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Sample records for reversible cerebellar syndrome

  1. Isolated cerebellar involvement in posterior reversible encephalopathy syndrome.

    PubMed

    Li, Dujuan; Lian, Lifei; Zhu, Suiqiang

    2015-10-15

    Posterior reversible encephalopathy syndrome (PRES) is a serious and increasingly recognized disorder in humans. However, isolated cerebellar involvement in PRES is extremely uncommon. In this study, we sought to investigate its clinical and radiological features by describing a cohort of cases with PRES and isolated cerebellar involvement. We report 2 patients with PRES with only cerebellar involvement and identified additional 9 cases using the PubMed database with the MeSH terms "posterior reversible encephalopathy syndrome", "hypertensive encephalopathy", "hypertension", "cerebellum", "encephalopathy", and "magnetic resonance imaging". We then collectively analyzed the clinical and imaging characteristics of these 11 cases. The average age was 28years, with 8 male and 3 female patients. All cases had severe acute hypertension and T2 hyperintensity on MRI exclusively centered within the cerebellum. Of 11 patients, 7 had hypertensive retinopathy, a favorable clinical course with only antihypertensive treatment, and resolution of the cerebellar lesions on follow-up imaging. A total of 5 of the 11 patients received external ventricular drainage due to obstructive hydrocephalus and only 2 of the 11 had a seizure. Isolated cerebellar involvement in PRES may be a unique variant that affects younger, male cases with severe acute hypertension and hypertensive retinopathy, but not necessarily seizure. Most patients have full recovery after fast control of blood pressure. Awareness of atypical neuroimaging features in PRES is critical for appropriate treatment. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Mild encephalitis/encephalopathy with reversible splenial and cerebellar lesions (MERS type II) in a patient with hemolytic uremic syndrome (HUS).

    PubMed

    Gawlitza, Matthias; Hoffmann, Karl-Titus; Lobsien, Donald

    2015-01-01

    The typical form of mild encephalitis/encephalopathy with a reversible splenial lesion— called MERS type I—is characterized by a singular, reversible lesion in the midline of the splenium. Very rarely, additional lesions with similar signal characteristics can occur in other brain areas, which is then referred to as MERS type II. We present the case of a patient with a reversible splenial lesion and concomitant reversible cerebellar lesions within the scope of an atypical hemolytic uremic syndrome (HUS).

  3. [Metronidazole-induced reversible cerebellar lesions and peripheral neuropathy].

    PubMed

    Toumi, S; Hammouda, M; Essid, A; Medimagh, L; Slamia, L Ben; Laouani-Kechrid, C

    2009-12-01

    Metronidazole is a widely prescribed treatment for amoebic and anaerobic germ infections. Its neurologic toxicity is rare but can be serious. We report the case of a 27-year-old male patient, treated with metronidazole for a cerebral abscess. He presented with a cerebellar syndrome and peripheral neuropathy at a cumulative metronidazole dose of 60g. The MRI aspect of the cerebellar lesions in addition to their reversibility after treatment cessation led to the diagnosis of metronidazole induced neurologic toxicity. The occurrence of neurologic disorders in patients treated with metronidazole must suggest drug toxicity and lead to cessation of treatment.

  4. [Cerebellar cognitive affective syndrome secondary to a cerebellar tumour].

    PubMed

    Domínguez-Carral, J; Carreras-Sáez, I; García-Peñas, J J; Fournier-Del Castillo, C; Villalobos-Reales, J

    2015-01-01

    Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  5. Altered cerebellar feedback projections in Asperger syndrome.

    PubMed

    Catani, Marco; Jones, Derek K; Daly, Eileen; Embiricos, Nitzia; Deeley, Quinton; Pugliese, Luca; Curran, Sarah; Robertson, Dene; Murphy, Declan G M

    2008-07-15

    It has been proposed that the biological basis of autism spectrum disorder includes cerebellar 'disconnection'. However, direct in vivo evidence in support of this is lacking. Here, the microstructural integrity of cerebellar white matter in adults with Asperger syndrome was studied using diffusion tensor magnetic resonance tractography. Fifteen adults with Asperger syndrome and 16 age-IQ-gender-matched healthy controls underwent diffusion tensor magnetic resonance imaging. For each subject, tract-specific measurements of mean diffusivity and fractional anisotropy were made within the inferior, middle, superior cerebellar peduncles and short intracerebellar fibres. No group differences were observed in mean diffusivity. However, people with Asperger syndrome had significantly lower fractional anisotropy in the short intracerebellar fibres (p<0.001) and right superior cerebellar (output) peduncle (p<0.001) compared to controls; but no difference in the input tracts. Severity of social impairment, as measured by the Autistic Diagnostic Interview, was negatively correlated with diffusion anisotropy in the fibres of the left superior cerebellar peduncle. These findings suggest a vulnerability of specific cerebellar neural pathways in people with Asperger syndrome. The localised abnormalities in the main cerebellar outflow pathway may prevent the cerebral cortex from receiving those cerebellar feedback inputs necessary for a successful adaptive social behaviour.

  6. Cerebellar degeneration following neuroleptic malignant syndrome.

    PubMed Central

    Lal, V.; Sardana, V.; Thussu, A.; Sawhney, I. M.; Prabhakar, S.

    1997-01-01

    A 55-year-old woman with a history of bipolar affective disorder developed hyperpyrexia, rigidity and depressed consciousness (neuroleptic malignant syndrome) after commencing neuroleptic therapy. On regaining consciousness, she was mute and had signs suggesting pancerebellar involvement. Hyperpyrexia, which is a cardinal feature of neuroleptic malignant syndrome, may have caused cerebellar damage. Neuroleptic malignant syndrome needs both early recognition and prompt treatment to obviate devastating complications. PMID:9519191

  7. Cerebellar mutism syndrome and its relation to cerebellar cognitive and affective function: Review of the literature

    PubMed Central

    Yildiz, Ozlem; Kabatas, Serdar; Yilmaz, Cem; Altinors, Nur; Agaoglu, Belma

    2010-01-01

    Tumors of the cerebellum and brainstem account for half of all brain tumors in children. The realization that cerebellar lesions produce clinically relevant intellectual disability makes it important to determine whether neuropsychological abnormalities occur in long-term survivors of pediatric cerebellar tumors. Little is known about the neurobehavioral sequale resulting specifically from the resection of these tumors in this population. We therefore reviewed neuropsychological findings associated with postoperative cerebellar mutism syndrome and discuss the further implications for cerebellar cognitive function. PMID:20436742

  8. Cerebellar mutism syndrome: cause and rehabilitation.

    PubMed

    Catsman-Berrevoets, Coriene E

    2017-04-01

    Mutism of cerebellar origin may occur in the context of various causes but is most frequent in children after resection of a large midline cerebellar tumour. In this review, the endeavour to reach a consensus on name and definition of postoperative mutism of cerebellar origin and associated symptoms is highlighted. In addition, progress in understanding of cause and risk factors for the syndrome is discussed as well as the rehabilitation issues. Consensus on the term cerebellar mutism syndrome (CMS) has been reached. The exact pathogenesis of CMS remains unclear. Recently, attention was drawn to the hypothesis that thermal injury might be an important mechanism in the pathogenesis of CMS. Diffusion tensor imaging tractography was found to visualize the damage to relevant pathways that are associated with persistent impairments after recovery of CMS. There is still no established treatment for CMS to date. By reaching a consensus on terminology and description of CMS, a firm basis has been created for future research. The pathogenesis of CMS seems multifactorial and important risk factors have been found. However, CMS cannot be effectively prevented yet and no established or specific treatment is available, apart from very general rehabilitation and cognitive interventions.

  9. Acute cerebellar ataxia, acute cerebellitis, and opsoclonus-myoclonus syndrome.

    PubMed

    Desai, Jay; Mitchell, Wendy G

    2012-11-01

    Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation. There is considerable overlap between these entities. The mildest cases of acute cerebellar ataxia represent a benign condition that is characterized by acute truncal and gait ataxia, variably with appendicular ataxia, nystagmus, dysarthria, and hypotonia. It occurs mostly in young children, presents abruptly, and recovers over weeks. Neuroimaging is normal. Severe cases of cerebellitis represent the other end of the spectrum, presenting with acute cerebellar signs often overshadowed by alteration of consciousness, focal neurological deficits, raised intracranial pressure, hydrocephalus, and even herniation. Neuroimaging is abnormal and the prognosis is less favorable than in acute cerebellar ataxia. Acute disseminated encephalomyelitis may be confused with acute cerebellitis when the clinical findings are predominantly cerebellar, but lesions on neuroimaging are usually widespread. Paraneoplastic opsoclonus-myoclonus syndrome is often initially misdiagnosed as acute cerebellar ataxia, but has very specific features, course, and etiopathogensis.

  10. The Cerebellar Mutism Syndrome and Its Relation to Cerebellar Cognitive Function and the Cerebellar Cognitive Affective Disorder

    ERIC Educational Resources Information Center

    Wells, Elizabeth M.; Walsh, Karin S.; Khademian, Zarir P.; Keating, Robert F.; Packer, Roger J.

    2008-01-01

    The postoperative cerebellar mutism syndrome (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa tumors. Although the mutism is transient, speech rarely normalizes and the syndrome is…

  11. The Cerebellar Mutism Syndrome and Its Relation to Cerebellar Cognitive Function and the Cerebellar Cognitive Affective Disorder

    ERIC Educational Resources Information Center

    Wells, Elizabeth M.; Walsh, Karin S.; Khademian, Zarir P.; Keating, Robert F.; Packer, Roger J.

    2008-01-01

    The postoperative cerebellar mutism syndrome (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa tumors. Although the mutism is transient, speech rarely normalizes and the syndrome is…

  12. Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model

    PubMed Central

    Bruinsma, Caroline F.; Schonewille, Martijn; Gao, Zhenyu; Aronica, Eleonora M.A.; Judson, Matthew C.; Philpot, Benjamin D.; Hoebeek, Freek E.; van Woerden, Geeske M.; De Zeeuw, Chris I.; Elgersma, Ype

    2015-01-01

    Angelman syndrome (AS) is a severe neurological disorder that is associated with prominent movement and balance impairments that are widely considered to be due to defects of cerebellar origin. Here, using the cerebellar-specific vestibulo-ocular reflex (VOR) paradigm, we determined that cerebellar function is only mildly impaired in the Ube3am–/p+ mouse model of AS. VOR phase-reversal learning was singularly impaired in these animals and correlated with reduced tonic inhibition between Golgi cells and granule cells. Purkinje cell physiology, in contrast, was normal in AS mice as shown by synaptic plasticity and spontaneous firing properties that resembled those of controls. Accordingly, neither VOR phase-reversal learning nor locomotion was impaired following selective deletion of Ube3a in Purkinje cells. However, genetic normalization of αCaMKII inhibitory phosphorylation fully rescued locomotor deficits despite failing to improve cerebellar learning in AS mice, suggesting extracerebellar circuit involvement in locomotor learning. We confirmed this hypothesis through cerebellum-specific reinstatement of Ube3a, which ameliorated cerebellar learning deficits but did not rescue locomotor deficits. This double dissociation of locomotion and cerebellar phenotypes strongly suggests that the locomotor deficits of AS mice do not arise from impaired cerebellar cortex function. Our results provide important insights into the etiology of the motor deficits associated with AS. PMID:26485287

  13. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Lee, R; Ramadan, H; Bamford, J

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an underdiagnosed condition which usually presents as severe headache with or without neurological deficit. We report the case of a 55-year-old woman who presented with headache and multifocal intracerebral haemorrhage. We review the literature regarding the presentation, pathophysiology and management of RCVS and discuss how to differentiate it from cerebral vasculitis.

  14. Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome

    PubMed Central

    Bodranghien, Florian; Bastian, Amy; Casali, Carlo; Hallett, Mark; Louis, Elan D.; Mariën, Peter; Nowak, Dennis A.; Schmahmann, Jeremy D.; Serrao, Mariano; Steiner, Katharina Marie; Strupp, Michael; Tilikete, Caroline; Timmann, Dagmar; van Dun, Kim

    2017-01-01

    The cerebellum is involved in sensorimotor operations, cognitive tasks and affective processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent advances in our understanding of cerebellar operations. The key symptoms and signs of cerebellar dysfunction, often grouped under the generic term of ataxia, are discussed. Vertigo, dizziness, and imbalance are associated with lesions of the vestibulo-cerebellar, vestibulo-spinal, or cerebellar ocular motor systems. The cerebellum plays a major role in the online to long-term control of eye movements (control of calibration, reduction of eye instability, maintenance of ocular alignment). Ocular instability, nystagmus, saccadic intrusions, impaired smooth pursuit, impaired vestibulo-ocular reflex (VOR), and ocular misalignment are at the core of oculomotor cerebellar deficits. As a motor speech disorder, ataxic dysarthria is highly suggestive of cerebellar pathology. Regarding motor control of limbs, hypotonia, a- or dysdiadochokinesia, dysmetria, grasping deficits and various tremor phenomenologies are observed in cerebellar disorders to varying degrees. There is clear evidence that the cerebellum participates in force perception and proprioceptive sense during active movements. Gait is staggering with a wide base, and tandem gait is very often impaired in cerebellar disorders. In terms of cognitive and affective operations, impairments are found in executive functions, visual-spatial processing, linguistic function, and affective regulation (Schmahmann’s syndrome). Nonmotor linguistic deficits including disruption of articulatory and graphomotor planning, language dynamics, verbal fluency, phonological, and semantic word retrieval, expressive and receptive syntax, and various aspects of reading and writing may be impaired after cerebellar damage. The cerebellum is organized into (a) a primary sensorimotor region in the anterior lobe and adjacent part of lobule VI, (b) a second sensorimotor

  15. Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome.

    PubMed

    Bodranghien, Florian; Bastian, Amy; Casali, Carlo; Hallett, Mark; Louis, Elan D; Manto, Mario; Mariën, Peter; Nowak, Dennis A; Schmahmann, Jeremy D; Serrao, Mariano; Steiner, Katharina Marie; Strupp, Michael; Tilikete, Caroline; Timmann, Dagmar; van Dun, Kim

    2016-06-01

    The cerebellum is involved in sensorimotor operations, cognitive tasks and affective processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent advances in our understanding of cerebellar operations. The key symptoms and signs of cerebellar dysfunction, often grouped under the generic term of ataxia, are discussed. Vertigo, dizziness, and imbalance are associated with lesions of the vestibulo-cerebellar, vestibulo-spinal, or cerebellar ocular motor systems. The cerebellum plays a major role in the online to long-term control of eye movements (control of calibration, reduction of eye instability, maintenance of ocular alignment). Ocular instability, nystagmus, saccadic intrusions, impaired smooth pursuit, impaired vestibulo-ocular reflex (VOR), and ocular misalignment are at the core of oculomotor cerebellar deficits. As a motor speech disorder, ataxic dysarthria is highly suggestive of cerebellar pathology. Regarding motor control of limbs, hypotonia, a- or dysdiadochokinesia, dysmetria, grasping deficits and various tremor phenomenologies are observed in cerebellar disorders to varying degrees. There is clear evidence that the cerebellum participates in force perception and proprioceptive sense during active movements. Gait is staggering with a wide base, and tandem gait is very often impaired in cerebellar disorders. In terms of cognitive and affective operations, impairments are found in executive functions, visual-spatial processing, linguistic function, and affective regulation (Schmahmann's syndrome). Nonmotor linguistic deficits including disruption of articulatory and graphomotor planning, language dynamics, verbal fluency, phonological, and semantic word retrieval, expressive and receptive syntax, and various aspects of reading and writing may be impaired after cerebellar damage. The cerebellum is organized into (a) a primary sensorimotor region in the anterior lobe and adjacent part of lobule VI, (b) a second sensorimotor

  16. [Reversible cerebral vasoconstriction syndrome].

    PubMed

    Laakso, Elina; Pekkola, Johanna; Soinne, Lauri; Putaala, Jukka

    2014-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is increasingly recognized. The condition is characterized by multifocal vasoconstriction lesions in cerebral arteries. Headache is the central symptom, with an acute onset and paroxysmal occurrence. Some of the patients develop intracranial hemorrhage, ischemic disturbance of the cerebral circulation, hypertensive encephalopathy (PRES) or epileptic seizures as complications. The disease is most common in middle-aged women. Most patients have an underlying predisposing factor, most commonly vasoactive medications, drugs or puerperium. There is no evidence-based practice.

  17. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Ducros, Anne

    2012-10-01

    Recurrent thunderclap headaches, seizures, strokes, and non-aneurysmal subarachnoid haemorrhage can all reveal reversible cerebral vasoconstriction syndrome. This increasingly recognised syndrome is characterised by severe headaches, with or without other symptoms, and segmental constriction of cerebral arteries that resolves within 3 months. Reversible cerebral vasoconstriction syndrome is supposedly due to a transient disturbance in the control of cerebrovascular tone. More than half the cases occur post partum or after exposure to adrenergic or serotonergic drugs. Manifestations have a uniphasic course, and vary from pure cephalalgic forms to rare catastrophic forms associated with several haemorrhagic and ischaemic strokes, brain oedema, and death. Diagnosis can be hampered by the dynamic nature of clinicoradiological features. Stroke can occur a few days after initial normal imaging, and cerebral vasoconstriction is at a maximum on angiograms 2-3 weeks after clinical onset. The calcium channel blocker nimodipine seems to reduce thunderclap headaches within 48 h of administration, but has no proven effect on haemorrhagic and ischaemic complications. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Calic, Z; Cappelen-Smith, C; Zagami, A S

    2015-06-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-radiological syndrome characterised by severe thunderclap headaches with or without other neurological symptoms and multifocal constriction of cerebral arteries that usually resolves spontaneously within 3 months. Most patients recover completely, but up to 10% have a permanent neurological disability and some even die. Previously RCVS has been described in many clinical contexts and under different names with the term RCVS first being suggested in 2007 to unify the group. The condition may be spontaneous, but in up to 60% of cases it is secondary to another cause, including vasoactive substances (medications and illicit drugs), blood products and the post-partum state. It is believed to have a similar pathophysiological mechanism to the posterior reversible encephalopathy syndrome (PRES), and both can occur in similar clinical contexts and are frequently associated. Treatment options include calcium channel antagonists. RCVS occurs in a broad range of clinical situations making it an increasingly recognised condition about which doctors in various specialties need to be aware. © 2014 Royal Australasian College of Physicians.

  19. [Reversible cerebral vasoconstriction syndrome].

    PubMed

    Néel, A; Guillon, B; Auffray-Calvier, E; Hello, M; Hamidou, M

    2012-10-01

    The reversible cerebral vasoconstriction syndrome (RCVS) is an under-estimated transient acute cerebrovascular disorder. It has long been mistaken as central nervous system vasculitis whereas it is now believed to result from an acute but prolonged vasospasm of cerebral arteries. This disorder can be precipitated by postpartum or vasoactive drug. However, it occurs spontaneously in a significant number of cases. The characteristic clinico-radiological presentation and disease course of the RCVS has been delineated only recently. Mean age at onset is 40-45 years, with a female predominance. A provocative factor can be identified in 12-60% out of the patients. Clinical presentation is predominantly marked by recurrent thunderclap headaches, but can be complicated with focal neurological deficit or seizures. Brain imaging is normal in most cases, but can reveal hemorrhagic or ischemic complications. Cortical subarachnoid hemorrhage is a suggestive finding. A posterior reversible encephalopathy syndrome (PRES) can be seen occasionally. Cerebral angiography reveals multifocal arterial narrowing with string and bead appearance. Cerebrospinal fluid reveals no or mild abnormalities. The disease resumes spontaneously within several days to weeks, whereas vasoconstriction reverses within 1 to 3 months. This clinico-radiological presentation should be promptly recognized in order to avoid unnecessary investigations and aggressive treatment, and lead to search for a triggering factor. Further studies are required in order to clarify the precipitating role of several drugs, and clinical trials are needed to reduce the occurrence of strokes. Copyright © 2012 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  20. Cerebellar cognitive affective syndrome presented as severe borderline personality disorder.

    PubMed

    Pesic, Danilo; Peljto, Amir; Lukic, Biljana; Milovanovic, Maja; Svetozarevic, Snezana; Lecic Tosevski, Dusica

    2014-01-01

    An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

  1. [Posterior reversible encephalopathy syndrome].

    PubMed

    Petrović, Branko; Kostić, Vladimir; Sternić, Nadezda; Kolar, Jovo; Tasić, Nebojsa

    2003-01-01

    Reversible Posterior Leukoencephalopathy Syndrome was introduced into clinical practice in 1996 in order to describe unique syndrome, clinically expressed during hypertensive and uremic encephalopathy, eclampsia and during immunosuppressive therapy [1]. First clinical investigations showed that leucoencephalopathy is major characteristic of the syndrome, but further investigations showed no significant destruction in white cerebral tissue [2, 3, 4]. In majority of cases changes are localise in posterior irrigation area of the brain and in the most severe cases anterior region is also involved. Taking into consideration all above mentioned facts, the suggested term was Posterior Reversible Encephalopathy Syndrome (PRES) for the syndrome clinically expressed by neurological manifestations derived from cortical and subcortical changes localised in posterior regions of cerebral hemispheres, cerebral trunk and cerebellum [5]. Patient, aged 53 years, was re-hospitalized in Cardiovascular Institute "Dediwe" two months after successful aorto-coronary bypass performed in June 2001 due to the chest bone infection. During the treatment of the infection (according to the antibiogram) in September 2001, patient in evening hours developed headache and blurred vision. The recorded blood pressure was 210/120 mmHg so antihypertensive treatment was applied (Nifedipin and Furosemid). After this therapy there was no improvement and intensive headache with fatigue and loss of vision developed. Neurological examination revealed cortical blindness and left hemiparesis. Manitol (20%, 60 ccm every 3 hours) and i.v. Nytroglicerin (high blood pressure). Brain CT revealed oedema of parieto-occipital regions of both hemispheres, more emphasized on the right. (Figure 1a, b, c). There was no sign of focal ischemia even in deeper sections (Figure 1d, e, f). Following three days enormous high blood pressure values were registered. On the fourth day the significant clinical improvement occurred

  2. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Ducros, Anne

    2014-01-01

    Reversible cerebral vasoconstriction syndrome is characterized by severe headaches with or without focal neurologic deficits and/or seizures, and segmental constriction of cerebral arteries that resolves within 3 months. This increasingly recognized syndrome is supposedly due to a transient disturbance in the control of cerebral vascular tone with sympathetic overactivity. It can cause stroke in the young. It affects mainly middle-aged women. More than half the cases occur after exposure to vasoactive substances or during postpartum. The manifestations have a monophasic course, without new clinical symptom after 4 weeks, and range from pure cephalalgic forms with recurrent thunderclap headaches over 1-2 weeks to rare catastrophic forms with multiple hemorrhagic and ischemic strokes, brain edema and death. Diagnosis may be hampered by the dynamic nature of clinicoradiological features. Convexity subarachnoid hemorrhage or stroke may occur a few days after initial normal imaging, and cerebral vasoconstriction is maximal on angiography 2-3 weeks after clinical onset. Symptomatic treatment includes rest and removal of vasoactive substances. Nimodipine has been proposed to reduce thunderclap headaches within 48 hours, but has no proven effect on the hemorrhagic and ischemic complications. © 2014 Elsevier B.V. All rights reserved.

  3. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Sampaio Rocha Filho, Pedro Augusto; Santos Barbosa, Janayna; Melo Correa-Lima, Ana Rosa

    2010-08-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache associated with multifocal vasoconstriction of cerebral arteries in patients without aneurysmal subarachnoid hemorrhage (SAH). The vasoconstriction reverts within three months. We report a 44-year-old man who had a thunderclap headache during sexual intercourse. A similar episode occurred at rest 36 hours later. The patient had already experienced a thunderclap headache 10 years earlier, during coitus. There were no abnormalities on examination. His brain computed tomography scan was normal and cerebrospinal fluid analysis showed no xanthochromia, 15 WBC/mm³ and 10 RBC/mm³. Lumbar puncture was repeated two days later (WBC = 3/mm³ and RBC = 43/mm³). An initial digital cerebral angiography showed a diffuse segmental intracerebral vasospasm. A new angiography after 15 days was normal. He remains headache-free after twenty six months. In conclusion, patients who have thunderclap headache with normal brain CT and cerebrospinal fluid without xantochromia should be investigated for this syndrome.

  4. Cerebellar and cortical abnormalities in paediatric opsoclonus-myoclonus syndrome.

    PubMed

    Anand, Geetha; Bridge, Holly; Rackstraw, Peter; Chekroud, Adam M; Yong, Jean; Stagg, Charlotte J; Pike, Michael

    2015-03-01

    Paediatric opsoclonus-myoclonus syndrome (OMS) is a poorly understood condition with long-term cognitive, behavioural, and motor sequelae. Neuroimaging has indicated cerebellar atrophy in the chronic phase, but this alone may not explain the cognitive sequelae seen in many children with OMS. This study aimed to determine the extent of structural change throughout the brain that may underpin the range of clinical outcomes. Nine participants with OMS (one male, eight females; mean age [SD] 14y, [6y 5mo], range 12-30y) and 10 comparison individuals (three males, seven females; mean age 12y 6mo, [4y 9mo], range 10-23y) underwent magnetic resonance imaging to acquire T1-weighted structural images, diffusion-weighted images, and magnetic resonance spectroscopy scans. Neuroblastoma had been present in four participants with OMS. Voxel-based morphometry was used to determine changes in grey matter volume, tract-based spatial statistics to analyze white matter integrity, and Freesurfer to analyze cortical thickness across visual and motor cortices. Whole-brain analysis indicated that cerebellar grey matter was significantly reduced in the patients with OMS, particularly in the vermis and flocculonodular lobe. A region-of-interest analysis indicated significantly lower cerebellar grey matter volume, particularly in patients with the greatest OMS scores. Diffusion-weighted images did not show effects at a whole brain level, but all major cerebellar tracts showed increased mean diffusivity when analysis was restricted to the cerebellum. Cortical thickness was reduced across the motor and visual areas in the OMS group, indicating involvement beyond the cerebellum. Across individuals with OMS, there is considerable cerebellar atrophy, particularly in the vermis and flocculonodular lobes with atrophy severity associated with persistent symptomatology. Differences in cerebral cortical thickness indicate disease effects beyond the cerebellum. © 2014 Mac Keith Press.

  5. Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Bernard, Kenneth R L; Rivera, Morris

    2015-07-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an underappreciated and poorly understood cause of thunderclap headache (TCH). Although self-limited in the majority of patients, incidence is increasing, with presentations overlapping considerably with life-threatening conditions, such as aneurysmal subarachnoid hemorrhage and stroke. In addition, radiographic findings seen in RCVS are also present in primary angiitis of the central nervous system (PACNS). Misdiagnosis of RCVS might subject patients to unnecessary invasive testing and immunosuppressive therapy. Furthermore, the recommended treatment of glucocorticoids used in PACNS can be harmful in RCVS. RCVS is not a benign condition, as patients can have ischemic or hemorrhagic complications leading to persistent neurologic deficits and even death. Current treatments, guided only by expert consensus, have no proven effect on these complications, which argues the need for accurate identification of patients with RCVS and prospective studies to validate treatment and inform prognoses. We describe a previously healthy male who presented to the emergency department after 2 episodes of TCH and angiography consistent with RCVS. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: RCVS is a common but underappreciated cause of TCH. The likelihood of misdiagnosing RCVS following the accepted diagnostic algorithm of acute headache in the emergency department is high due to a lack of clinical awareness and common features shared with other headache syndromes. Emergency department physicians must broaden the differential in patients presenting to the emergency department with TCH to include RCVS and be familiar with the accepted treatments and appropriate follow-up. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Surface-binding autoantibodies to cerebellar neurons in opsoclonus syndrome.

    PubMed

    Blaes, Franz; Fühlhuber, Verena; Korfei, Martina; Tschernatsch, Marlene; Behnisch, Wolfgang; Rostasy, Kevin; Hero, Barbara; Kaps, Manfred; Preissner, Klaus T

    2005-08-01

    Childhood opsoclonus-myoclonus syndrome can occur with or without associated neuroblastoma. An autoimmune pathogenesis has been discussed for both forms. We show here that the majority of children with opsoclonus-myoclonus syndrome (10/14) have autoantibodies binding to the surface of isolated rat cerebellar granular neurons. In some patients, these antibodies are masked by IgG binding to ubiquitous surface antigens, which could be removed by preincubation with the nonneuronal control cell line HEK 293. A newly introduced competitive binding assay showed that the surface binding is directed against the same autoantigen in different patients. Therefore, we hypothesize that opsoclonus-myoclonus syndrome may be the result of an autoimmune process against a neuronal surface protein.

  7. Increased cerebellar PET glucose metabolism corresponds to ataxia in Wernicke-Korsakoff syndrome.

    PubMed

    Fellgiebel, Andreas; Siessmeier, Thomas; Winterer, Georg; Lüddens, Hartmut; Mann, Klaus; Schmidt, Lutz G; Bartenstein, Peter

    2004-01-01

    To investigate a possible relationship between cerebellar glucose metabolism and recovery from ataxia in the first months of acute Wernicke-Korsakoff syndrome. Two cases of alcoholic Wernicke-Korsakoff syndrome were followed up with the clinical status and cerebral glucose metabolism over a 4- and 9-month period. Initially both patients showed severe ataxia and elevated cerebellar glucose metabolism that decreased corresponding to the restitution of stance and gait. Increased cerebellar glucose metabolism at the onset of the illness may reflect the reorganization process of disturbed motor skills and may indicate cerebellar plasticity.

  8. Recent Advances in Cerebellar Ischemic Stroke Syndromes Causing Vertigo and Hearing Loss.

    PubMed

    Kim, Hyun-Ah; Yi, Hyon-Ah; Lee, Hyung

    2016-12-01

    Cerebellar ischemic stroke is one of the common causes of vascular vertigo. It usually accompanies other neurological symptoms or signs, but a small infarct in the cerebellum can present with vertigo without other localizing symptoms. Approximately 11 % of the patients with isolated cerebellar infarction simulated acute peripheral vestibulopathy, and most patients had an infarct in the territory of the medial branch of the posterior inferior cerebellar artery (PICA). A head impulse test can differentiate acute isolated vertigo associated with PICA territory cerebellar infarction from more benign disorders involving the inner ear. Acute hearing loss (AHL) of a vascular cause is mostly associated with cerebellar infarction in the territory of the anterior inferior cerebellar artery (AICA), but PICA territory cerebellar infarction rarely causes AHL. To date, at least eight subgroups of AICA territory infarction have been identified according to the pattern of neurotological presentations, among which the most common pattern of audiovestibular dysfunction is the combined loss of auditory and vestibular functions. Sometimes acute isolated audiovestibular loss can be the initial symptom of impending posterior circulation ischemic stroke (particularly within the territory of the AICA). Audiovestibular loss from cerebellar infarction has a good long-term outcome than previously thought. Approximately half of patients with superior cerebellar artery territory (SCA) cerebellar infarction experienced true vertigo, suggesting that the vertigo and nystagmus in the SCA territory cerebellar infarctions are more common than previously thought. In this article, recent findings on clinical features of vertigo and hearing loss from cerebellar ischemic stroke syndrome are summarized.

  9. Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

    PubMed

    Romani, Marta; Micalizzi, Alessia; Valente, Enza Maria

    2013-09-01

    Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. Neurological signs are present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 21 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus. The primary cilium is a subcellular organelle that has key roles in development and in many cellular functions, making Joubert syndrome part of the expanding family of ciliopathies. Notable clinical and genetic overlap exists between distinct ciliopathies, which can co-occur even within families. Such variability is probably explained by an oligogenic model of inheritance, in which the interplay of mutations, rare variants, and polymorphisms at distinct loci modulate the expressivity of the ciliary phenotype. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. The posterior reversible encephalopathy syndrome.

    PubMed

    Sanjay, K Mandal; Partha, P Chakraborty

    2008-09-01

    The posterior/potentially reversible encephalopathy syndrome is a unique syndrome encountered commonly in hypertensive encephalopathy. A 13-year-old boy presented with of intermittent high grade fever, throbbing headache and non-projective vomiting for 5 days. The patient had a blood pressure of 120/80 mmHg but fundoscopy documented grade 3 hypertensive retinopathy. The patient improved symptomatically following conservative management. However, on the 5(th) post-admission day headache reappeared, and blood pressure measured at that time was 240/120 mmHg. Neuroimaging suggested white matter abnormalities. Search for the etiology of secondary hypertension led to the diagnosis of pheochromocytoma. Repeated MRI after successful surgical excision of the tumor patient showed reversal of white matter abnormalities. Reversible leucoencephalopathy due to pheochromocytoma have not been documented in literature previously.

  11. Clinical and neuroanatomical predictors of cerebellar mutism syndrome

    PubMed Central

    Law, Nicole; Greenberg, Mark; Bouffet, Eric; Taylor, Michael D.; Laughlin, Suzanne; Strother, Douglas; Fryer, Christopher; McConnell, Dina; Hukin, Juliette; Kaise, Caelyn; Wang, Frank; Mabbott, Donald J.

    2012-01-01

    Cerebellar mutism syndrome (CMS) is an important medical challenge in the management of pediatric posterior fossa brain tumors, because it occurs in a subset of children following tumor resection. A definitive clinical profile and neuroanatomical substrate associated with CMS remains unclear. We investigated the relationship between presurgical and clinical variables and the incidence of CMS, along with diffusion tensor imaging, to characterize the integrity of cerebello-thalamo-cerebral white matter pathways. Seventeen children with posterior fossa tumors and CMS, 34 children with posterior fossa tumors without CMS, and 28 healthy children were enrolled in this study. Bilateral cerebello-thalamo-cerebral pathways were delineated and segmented into anatomical regions. Mean integrity measures for each region were compared among children with CMS, children without CMS, and healthy children. Left-handedness, medulloblastoma histology, and larger tumor size distinguished between patients with CMS and patients without CMS (P < .04). Right cerebellar white matter within the cerebello-thalamo-cerebral pathway was compromised in children with CMS relative to children without CMS and healthy children (P < .02). We provide a potential schema for CMS risk among children treated for posterior fossa tumors. Left-handed children treated for medulloblastoma may be the most at risk for CMS, and unilateral, localized damage within the cerebello-thalamo-cerebral pathway at the level of the right cerebellum is implicated in the presentation of CMS. This disruption in communication between the right cerebellum and left frontal cortex may contribute to speech-language problems observed in children with CMS. Our findings may be relevant for surgical planning and speech-language therapy to mitigate symptoms of CMS. PMID:22952198

  12. [MRI and SPECT findings in a case of metronidazole-induced reversible acute cerebellar ataxia].

    PubMed

    Takase, Kei-ichiro; Santa, Yo; Ohta, Sumio; Yoshimura, Takeo

    2005-05-01

    A 69-year-old man was referred to our department because of acute onset nausea, vomiting, dysphagia, dysarthria and gait disturbance. He had a 50-day-history of amebic dysentery and had been treated with 1,500 mg metronidazole per day. Neurological examination revealed dysphagia, ataxic speech, ataxia of the left extremities and the trunk, and hyperactive deep tendon reflexes in all extremities. Sensory impairment of all modalities was apparent in a glove and stocking pattern, with mild paresthesia. Brain MRI showed T2 high signal lesions in the bilateral cerebellar dentate nuclei, more markedly on the left. On brain SPECT, obvious low blood perfusion was observed in the left cerebellar hemisphere. These findings well explained the ataxia of the left limbs. One month after discontinuing metronidazole, the cerebellar ataxia, dysphagia and MRI abnormalities completely cleared. Therefore, central nervous system damage induced by metronidazole is considered reversible. In spite of the presence of the MRI lesion in the right dentate nucleus, the patient had no ataxia of the right extremities and there was no hypoperfusion in the right cerebellar hemisphere. Thus, metronidazole does not appear to have a direct neurotoxic effect on the central nervous system. On the other hand, nerve conduction studies showed axonal polyneuropathy, which was not improved one month after cessation of the drug; thus metronidazole seems to exert more damage on peripheral nerves.

  13. Apraxia of speech and cerebellar mutism syndrome: a case report.

    PubMed

    De Witte, E; Wilssens, I; De Surgeloose, D; Dua, G; Moens, M; Verhoeven, J; Manto, M; Mariën, P

    2017-01-01

    Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear. This study investigates the speech and language symptoms following posterior fossa medulloblastoma surgery in a 12-year-old right-handed boy. An extensive battery of formal speech (DIAS = Diagnostic Instrument Apraxia of Speech) and language tests were administered during a follow-up of 6 weeks after surgery. Although the neurological and neuropsychological (affective, cognitive) symptoms of this patient are consistent with Schmahmann's syndrome, the speech and language symptoms were markedly different from what is typically described in the literature. In-depth analyses of speech production revealed features consistent with a diagnosis of apraxia of speech (AoS) while ataxic dysarthria was completely absent. In addition, language assessments showed genuine aphasic deficits as reflected by distorted language production and perception, wordfinding difficulties, grammatical disturbances and verbal fluency deficits. To the best of our knowledge this case might be the first example that clearly demonstrates that a higher level motor planning disorder (apraxia) may be the origin of disrupted speech in CMS. In addition, identification of non-motor linguistic disturbances during follow-up add to the view that the cerebellum not only plays a crucial role in the planning and execution of speech but also in linguistic processing. Whether the cerebellum has a direct or indirect role in motor speech planning needs to be further investigated.

  14. Cerebellar Degeneration as a Rare Paraneoplastic Syndrome in a Child With Hodgkin Lymphoma.

    PubMed

    Avramova, Boryana E; Hristova, Tanya; Yordanova, Maya; Vlahova, Irena; Muchinova, Albena; Bojinova, Veneta; Konstantinov, Dobrin

    2016-08-01

    We report a rare case of cerebellar degeneration as a paraneoplastic syndrome in an 8-year-old boy with Hodgkin lymphoma that presented during first-line treatment. Antibodies against Purkinje cells (anti-Tr antibodies) were detected in the serum of the patient. After successful treatment of the lymphoma, the cerebellar symptoms resolved partially. Childhood presentation of paraneoplastic cerebellar degeneration is extremely rare, with only a few reports in the literature. For this reason, the description of all such cases contributes to the enrichment of the medical knowledge and will improve the diagnosis and the treatment of this complication.

  15. Nonsurgical cerebellar mutism (anarthria) in two children.

    PubMed

    Mewasingh, Leena D; Kadhim, Hazim; Christophe, Catherine; Christiaens, Florence J; Dan, Bernard

    2003-01-01

    Cerebellar mutism (anarthria) is a well-described complication of posterior fossa tumor resection. It is accompanied by a characteristic behavior including irritability and autistic features. This syndrome is typically reversible within days to months. Underlying pathophysiology is unknown. We describe two children who presented with a similar clinical finding after nonsurgical cerebellar involvement, hemolytic-uremic syndrome in one and cerebellitis in the other. Postmortem pathologic findings in the first patient indicated cerebellar ischemic necrosis. Single-photon emission computed tomography in the second patient revealed diffuse cerebellar hypoperfusion with no supratentorial abnormalities, refuting a phenomenon of diaschisis between cerebellar and frontal connections. These findings confirm that this clinical syndrome may occur in a nonsurgical, nontraumatic context. They are consistent with recent integrative hypotheses explaining cerebellar anarthria.

  16. Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2.

    PubMed

    Manto, Mario; Jissendi, P

    2012-07-01

    Autoimmune polyglandular syndrome (APS) type 2 (Schmidt syndrome) is a disorder characterized by a combination of autoimmune adrenal insufficiency, autoimmune thyroid disease, and type 1 autoimmune diabetes mellitus. We describe the first case of subacute cerebellar syndrome associated with APS type 2. Brain magnetic resonance imaging showed atrophy of the cerebellum and the vermis, as well as of the anterior pituitary gland. Magnetic resonance spectroscopy showed decreased N-acetylaspartate/creatine ratio in the cerebellum and in the pons. Our findings expand the spectrum of neurological deficits in APS type 2 and underlines that cerebellar pathways may be a main target of the disorder. © 2010 by the American Society of Neuroimaging.

  17. A case report of patient with cerebellar variant of stiff person syndrome.

    PubMed

    Maludzińska, Ewa; Rudzińska, Monika; Stępień, Artur; Szczudlik, Andrzej

    2016-01-01

    Stiff person syndrome (SPS) is a rare autoimmune neurological disorder with antibodies against antigens involved in neurotransmission of gamma-aminobutyric acid (GABA). About 10% of patients with SPS may develop ataxia. This cerebellar variant is a distinct subset of SPS with more severe and complex clinical phenotype. We report the clinical, neuropsychological and neuroradiological findings in a 39-year-old female with cerebellar variant of SPS.

  18. A reversible cerebral vasoconstriction syndrome

    PubMed Central

    Ba, Fang; Giuliani, Fabrizio; Camicioli, Richard; Saqqur, Maher

    2012-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is typically presented with severe headaches where, vascular imaging demonstrates multiple intracranial arterial narrowing. Variable triggers are related to RCVS, such as serotonin agents and bromocriptine. Thus, a detailed medication history is important. Subarachnoid haemorrhage (SAH) is not uncommon in RCVS. Repeat vascular imaging at 2–3 months with complete reversal of the narrowed vessels confirms the diagnosis of RCVS. The authors present a case where use of triptan along with multiple psychotropic medications, was associated with RVCS. Neuroimaging demonstrated focal SAH and diffuse beaded appearance involving the intracranial vasculature. The patient improved clinically with oral nimodipine treatment. Repeat angiography and a follow-up transcranial Doppler showed complete resolution of vasoconstriction. In the setting of acute severe headache, with any ‘red flags’, it is important to evaluate the medication use and other precipitating risks for RVCS. Vascular imaging is the key for diagnosis. PMID:22787186

  19. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome associated with intracranial hypotension.

    PubMed

    Feil, Katharina; Forbrig, Robert; Thaler, Franziska S; Conrad, Julian; Heck, Suzette; Dorn, Franziska; Pfister, Hans-Walter; Straube, Andreas

    2017-02-01

    Reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) are both rare disorders. The pathophysiology of both diseases is not yet fully understood. We report the unique case of a 19-year-old comatose woman who was brought to the ER after a series of generalized tonic-clonic seizures 6 days post peridural anesthesia for cesarean section. Vital signs and initial laboratory testing including urine analysis and drug screening were unremarkable. Initial cranial CT scan showed an acute small subdural hematoma (17 mm length × 6 mm width × 30 mm height), cerebral edema with slit ventricles, and slight cerebellar tonsillar herniation as signs of intracranial hypotension. CT angiography depicted narrowing of the proximal intracranial vessels consistent with RCVS. MR imaging was also suggestive of both intracranial hypotension and RCVS and showed, in addition, vasogenic edema consistent with PRES. An extensive CSF leakage involving T1 to L2/L3 was confirmed by spinal MRI. The patient underwent conservative therapy for intracranial hypotension (e.g., head-down position) as well as epidural blood patch, which led to regression of the clinical symptoms within a few days. Follow-up MRI showed complete resolution of all radiological changes. In summary, our patient developed clinical and neuroradiological signs of intracranial hypotension and a combination of PRES and RCVS associated with a CSF leakage caused by peridural anesthesia; by treating the intracranial hypotension, the other syndromes resolved. From a clinical point of view, it is important to look for CSF leakage as a treatable possible cause of PRES and/or RCVS triggered by intracranial hypotension as in our patient postpartum. Moreover, it is vital to obtain a good history as, in cases of suspected CSF leakage with classic postural headache, a recent spinal/cranial procedure is typically present.

  20. Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.

    PubMed

    Cazzato, Daniele; Dalla Bella, Eleonora; Dacci, Patrizia; Mariotti, Caterina; Lauria, Giuseppe

    2016-02-01

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a newly described condition with onset in adulthood, characterized by progressive balance impairment and sensory disturbances in the lower limbs, which can severely affect patients' quality of life. Its pathogenesis remains obscure and the diagnosis challenging. We described four patients complaining of slowly progressive gait unbalance and sensory disturbances at the feet followed, after a period ranging 2-6 years, by cerebellar dysfunction. All patients showed gait and limb ataxia, positive Romberg sign, cerebellar dysarthria, gaze-evoked nystagmus, absent deep tendon reflexes, and impaired vibratory sensation. Nerve conduction studies revealed axonal sensory neuropathy, brain magnetic resonance imaging showed cerebellar atrophy, and otoneurological investigation demonstrated bilateral vestibular areflexia with impaired vestibulo-ocular reflexes. The diagnosis of CANVAS should be suspected on clinical ground based on homogeneous course of symptoms and signs, and addressed by video-oculography eye movement recording.

  1. Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations

    PubMed Central

    Heffner, Reid R.

    1970-01-01

    Two unique cases of the syndrome of absent abdominal muscles with central nervous system involvement are presented. Microcephaly, polymicrogyria, and cerebellar heterotopiae were present in both. In case 1 there was also absence of the corpus callosum and agenesis of the cerebellar vermis. In case 2 a count of anterior horn cells in the spinal cord showed a reduction of approximately 50% in the lower thoracic region. The pertinent literature is briefly discussed. The findings in the nervous system suggest that the syndrome is the result of defective embryogenesis during the first trimester. Images PMID:4250700

  2. Cerebellar Mutism Syndrome After Posterior Fossa Surgery: A Report of Two Cases of Pilocytic Astrocytoma

    PubMed Central

    GÜNDÜZ, Hasan Burak; YASSA, Mustafa İlker Kuntay; OFLUOĞLU, Ali Ender; POSTALCI, Lütfü; EMEL, Erhan

    2013-01-01

    Cerebellar mutism is a type of syndrome including decreased speech, hypotonia, ataxia and emotional instability which occurs after posterior fossa surgery. It has been first reported by Rekate et al. and Yonemasu in 1985. It is well known that long tract signs and lower cranial nerve involvement are not seen with this syndrome and understanding is preserved. However, the pathophysiology of cerebellar mutism has not been well clarified yet. It is mainly seen in patients with medulloblastoma and brainstem involvement. In this report, we present two extraordinary cases of cerebellar mutism after posterior fossa surgery. They were considered extraordinary because their hystopathological analysis results yielded pilocytic astrocytoma which is out of the predefined risk factors. PMID:28360572

  3. Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.

    PubMed

    Mariën, Peter; Brouns, Raf; Engelborghs, Sebastiaan; Wackenier, Peggy; Verhoeven, Jo; Ceulemans, Berten; De Deyn, Peter P

    2008-01-01

    Although previous studies of Gillespie syndrome have systematically reported a generalized delay of cognitive development (mental retardation or oligophrenia), psychometric data to substantiate this view are strikingly absent. In the present study two first degree relatives (mother and daughter) with Gillespie syndrome were neuropsychologically investigated. Aside from a marked asymmetry in the Wechsler-IQ profile, consisting of significantly better results on the verbal [Verbal IQ (VIQ)] than on the nonverbal part [Performance IQ (PIQ)] of the test, cognitive and behavioral assessments revealed a pattern of abnormalities that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS) (Schmahmann and Sherman, 1998). Aside from prefrontal dysexecutive dysfunctions such as disturbed cognitive planning and set-shifting, parietal lobe involvement was reflected by impaired visuo-spatial memory and visuo-spatial disorganization in constructional tasks. Within the linguistic domain involvement of the prefrontal and temporal language regions was indicated by impaired letter fluency, incidences of agrammatism, apraxia of speech and disrupted language dynamics. With regard to mood and behavior, a number of personality and affective characteristics were found that are typically associated with prefrontal lobe damage and dysfunction of limbic related regions in the cingulate and parahippocampal gyri. Disinhibited symptoms characterized behavior and affect of the mother while the daughter displayed a variety of inhibited symptoms. As a result, behavioral and cognitive findings in these patients do not support the prevailing view of a global mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry.

  4. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    ERIC Educational Resources Information Center

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  5. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    ERIC Educational Resources Information Center

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  6. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

    PubMed Central

    Rump, R; Hamel, B C; Pinckers, A J; van Dop, P A

    1997-01-01

    We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal recessive pattern of inheritance. The cases presented illustrate that this syndrome is still poorly recognised. We provide a review and analysis of previously reported cases and the differential diagnosis, which might aid in the identification of additional cases. Images PMID:9321767

  7. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    PubMed

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

  8. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.

    PubMed

    Aguilar, Andrea; Meunier, Alice; Strehl, Laetitia; Martinovic, Jelena; Bonniere, Maryse; Attie-Bitach, Tania; Encha-Razavi, Féréchté; Spassky, Nathalie

    2012-10-16

    Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia. Interestingly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cerebellar granule cell progenitors (GCPs) in response to Sonic hedgehog (SHH) is severely reduced. This suggests that Shh signaling defects could contribute to the vermis hypoplasia observed in the human syndromes. As existing JS/MKS mutant mouse models suggest apparently contradictory hypotheses on JS/MKS etiology, we investigated Shh signaling directly on human fetal samples. First, in an examination of human cerebellar development, we linked the rates of GCP proliferation to the different levels and localizations of active Shh signaling and showed that the GCP possessed a primary cilium with CEP290 at its base. Second, we found that the proliferation of GCPs and their response to SHH were severely impaired in the cerebellum of subjects with JS/MKS and Jeune syndrome. Finally, we showed that the defect in GCP proliferation was similar in the cerebellar vermis and hemispheres in all patients with ciliopathy analyzed, suggesting that the specific cause of vermal hypo-/aplasia precedes this defect. Our results, obtained from the analysis of human samples, show that the hemispheres and the vermis are affected in JS/MKS and provide evidence of a defective cellular mechanism in these pathologic processes.

  9. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

    PubMed

    Anttonen, Anna-Kaisa; Laari, Anni; Kousi, Maria; Yang, Yawei J; Jääskeläinen, Tiina; Somer, Mirja; Siintola, Eija; Jakkula, Eveliina; Muona, Mikko; Tegelberg, Saara; Lönnqvist, Tuula; Pihko, Helena; Valanne, Leena; Paetau, Anders; Lun, Melody P; Hästbacka, Johanna; Kopra, Outi; Joensuu, Tarja; Katsanis, Nicholas; Lehtinen, Maria K; Palvimo, Jorma J; Lehesjoki, Anna-Elina

    2017-03-01

    Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing. The identified mutation affects a highly conserved amino acid residue in the zinc finger domain of ZNHIT3. Both knockdown and genome editing of znhit3 in zebrafish embryos recapitulate the patients' cerebellar defects, microcephaly and oedema. These phenotypes are rescued by wild-type, but not mutant human ZNHIT3 mRNA, suggesting that the patient missense substitution causes disease through a loss-of-function mechanism. Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable. Immunohistochemical analysis of mouse cerebellar tissue demonstrated ZNHIT3 to be expressed in proliferating granule cell precursors, in proliferating and post-mitotic granule cells, and in Purkinje cells. Knockdown of Znhit3 in cultured mouse granule neurons and ex vivo cerebellar slices indicate that ZNHIT3 is indispensable for granule neuron survival and migration, consistent with the zebrafish findings and patient neuropathology. These results suggest that loss-of-function of a nuclear regulator protein underlies PEHO syndrome and imply that establishment of its spatiotemporal interaction targets will be the basis for developing therapeutic approaches and for improved understanding of cerebellar development.

  10. Diffuse large B-cell lymphoma of stomach presenting with paraneoplastic cerebellar degeneration syndrome.

    PubMed

    Nomani, Ali Zohair; Wazir, Marina; Kashmir, Saba Binte; Qureshi, Muhammad Saleem

    2014-03-01

    Paraneoplastic syndromes are most often diagnosed in the setting of a known malignancy. It is not uncommon for a paraneoplastic disorder to develop before a cancer is identified. While syndrome of cerebellar degeneration has been identified as a paraneoplastic manifestation of Hodgkin's lymphoma, thymoma, lung and breast cancer, ovarian and testicular tumors, melanoma, renal cell carcinoma, follicular lymphoma and adenocarcinoma of stomach, its association with non-Hodgkin's lymphoma and particularly diffuse large B-cell lymphoma has not been established previously. This case report describes the primary presentation with signs of paraneoplastic cerebellar degeneration as the only manifestation of an underlying diffuse large B-cell lymphoma making it the first of its kind to be formally reported. Furthermore, it also includes the identification of associated paraneoplastic antibodies for this particular syndrome.

  11. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

    PubMed

    Sohn, Young Bae; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Chae, Jong-Hee; Lee, Kyung-A

    2016-03-01

    CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7). We performed a phenotypic characterization and genetic analysis of CHD7 in 18 Korean patients with CHARGE syndrome. Eighteen unrelated Korean patients (10 females and 8 males; age range 0.0-19.6 years) with CHARGE syndrome were enrolled. Clinical data were collected by retrospective review of medical records. A serial analysis via sequencing and multiple ligation-dependent probe amplification of CHD7 was performed to determine the molecular genetic spectrum of the patients. The prevalence of cardinal symptoms was as follows: coloboma (13/18, 72.2%), heart defects (13/18, 72.2%), choanal atresia/stenosis (4/18, 22.2%), retarded growth (10/18, 55.6%), genital anomalies (15/18, 83.3%) and ear abnormalities (18/18, 100%). Five patients had cerebellar vermis hypoplasia (5/17, 29.4%) with no clinical symptoms or signs of cerebellar dysfunction. Furthermore, we identified genetic alterations in all 18 patients, including 10 novel mutations. Considering its frequency among patients with CHD7 mutations, cerebellar vermis hypoplasia may be a clinical diagnostic clue of CHARGE syndrome, although it is not included in the diagnostic criteria. And, the identification of CHD7 mutations may help the confirmative diagnosis.

  12. Neuropathology of a fatal case of posterior reversible encephalopathy syndrome.

    PubMed

    Kheir, John N; Lawlor, Michael W; Ahn, Edward S; Lehmann, Leslie; Riviello, James J; Silvera, V Michelle; McManus, Michael; Folkerth, Rebecca D

    2010-01-01

    The pathology of posterior reversible encephalopathy syndrome (PRES) is undefined, since it is rarely fatal and is biopsied in only exceptional circumstances. We describe rapidly progressive PRES following stem cell transplant for acute lymphoblastic leukemia. After development of altered mental status, this 8-year-old girl had T2 prolongation of the white matter in a posterior-dominant distribution, eventually developing cerebellar edema, hemorrhage, hydrocephalus, and herniation. Despite surgical and medical management, she died 36 hours later. At autopsy, the occipital and cerebellar white matter and focal occipital cortical gray matter showed a spectrum of microvascular changes, including dilated perivascular spaces containing proteinaceous exudates and macrophages, as well as fibrinoid necrosis and acute hemorrhage, in a distribution corresponding to the neuroimaging abnormalities and reminiscent of those seen in patients with acute hypertensive encephalopathy. Of note, similar microvascular changes were not seen in the kidney or other systemic sites. Thus, the findings indicate a brain-specific microvascular compromise as the substrate of PRES, at least in the rare instance of cases progressing to fatal outcome.

  13. Reversing the Effects of Fragile X Syndrome

    ERIC Educational Resources Information Center

    Ogren, Marilee P.; Lombroso, Paul J.

    2008-01-01

    A research on how synaptic plasticity is abnormally regulated in fragile X syndrome and how this abnormality can be reversed by therapeutic interventions is presented. Fragile X syndrome is a disorder of synaptic plasticity that contributes to abnormal development and interferes with normal learning and memory.

  14. [A case of cerebellar syndrome associated with HIV infection].

    PubMed

    Nakamura, Seika; Wate, Reika; Shinde, Akiyo; Asayama, Shinya; Nakano, Satoshi; Kusaka, Hirofumi

    2009-10-01

    A 36-year-old man was hospitalized because of subacutely progressive gait disturbance. Neurological examination disclosed severe ataxia of gait and trunk and moderate ataxia of the four limbs, without signs of cognitive impairment. There were no manifestations of systemic infections. Brain MRI showed mild atrophy of the cerebellar vermis and hemispheres. Extensive laboratory search failed to disclose the cause of subacute ataxia. Cerebellar ataxia progressed, leading to the patient becoming wheelchair-bound two months after admission, when PCR analysis of the cerebrospinal fluid was positive for Epstein-Barr, JC, and hepatitis B viruses. In addition, the quantity of serum HIV1-RNA was 2.9 x 10(4) copies, the absolute count of CD4+ lymphocyte was 28/mm3, and the CD4/CD8 ratio was 0.04, despite clear denials by both the patient and his wife regarding any apparent infectious opportunities. Accordingly thereafter, highly active antiretroviral therapy was initiated. Several weeks after the initiation of therapy, ataxia stabilized with disappearance of serum HIV and cerebrospinal fluid JCV viral load. He returned to his occupation 20 months after disease onset without progression of ataxia or development of other neurological dysfunctions including dementia. We could not establish the exact pathogenesis of ataxia in this patient It could have been primary cerebellar degeneration caused by HIV, or the other viruses detected (EBV, JCV) or autoimmune mechanisms caused by these viruses. However, HIV infection should be considered as an etiology in clinical setting of subacute ataxia, particularly in a young or immunocompromised patient.

  15. Diffusion Tensor Imaging Demonstrates Brainstem and Cerebellar Abnormalities in Congenital Central Hypoventilation Syndrome

    PubMed Central

    Kumar, Rajesh; Macey, Paul M.; Woo, Mary A.; Alger, Jeffry R.; Harper, Ronald M.

    2008-01-01

    Congenital central hypoventilation syndrome (CCHS) patients show reduced breathing drive during sleep, decreased hypoxic and hypercapnic ventilatory responses, and autonomic and affective deficits, suggesting both brainstem and forebrain injuries. Forebrain damage was previously described in CCHS, but methodological limitations precluded detection of brainstem injury, a concern because genetic mutations in CCHS target brainstem autonomic nuclei. To assess brainstem and cerebellar areas, we used diffusion tensor imaging-based measures, namely axial diffusivity, reflecting water diffusion parallel to fibers, and sensitive to axonal injury, and radial diffusivity, measuring diffusion perpendicular to fibers, and indicative of myelin injury. Diffusion tensor imaging was performed in 12 CCHS and 26 controls, and axial and radial diffusivity maps were compared between groups using analysis of covariance (covariates; age and gender). Increased axial diffusivity in CCHS appeared within the lateral medulla and clusters with injury extended from the dorsal midbrain through the periaqueductal gray, raphé, and superior cerebellar decussation, ventrally to the basal-pons. Cerebellar cortex and deep nuclei, and the superior and inferior cerebellar peduncles showed increased radial diffusivity. Midbrain, pontine, and lateral medullary structures, and the cerebellum and its fiber systems are injured in CCHS, likely contributing to the characteristics found in the syndrome. PMID:18458651

  16. Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome

    PubMed Central

    Arbib, Michael A.; Baldassarre, Gianluca

    2017-01-01

    Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i) reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii) suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii) furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area. PMID:28358814

  17. Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome.

    PubMed

    Caligiore, Daniele; Mannella, Francesco; Arbib, Michael A; Baldassarre, Gianluca

    2017-03-01

    Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i) reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii) suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii) furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area.

  18. Cerebellar Infarction Presenting with Acute Vestibular Syndrome in Two U.S. Air Force Pilots.

    PubMed

    Hesselbrock, Roger R

    2017-09-01

    Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset. Brain magnetic resonance imaging showed right inferomedial cerebellar infarction. Echocardiography discovered patent foramen ovale and atrial septal aneurysm. A 40-yr-old man developed severe vertigo, nausea, and vomiting during initial aircraft descent. Head computed tomography scan was performed acutely and was normal. Initial assessment was benign paroxysmal positional vertigo. Brain magnetic resonance imaging 1 mo after symptom onset showed a small right inferior cerebellar infarction. Patent foramen ovale and bilateral atrial enlargement were seen on echocardiography. Both pilots made full neurological recoveries and were eventually returned to flight status. Central causes of isolated acute vestibular symptoms are uncommon and are often not considered in otherwise healthy individuals. Cerebellar infarction is one of these uncommon but increasingly recognized causes of acute vestibular symptoms. As evaluation and management of central causes are much different from peripheral conditions, prompt localization confirmation is paramount. Accurate evidence-based bedside screening methods are available for rapid localization. Awareness of the possibility of central etiologies and careful clinical evaluation with application of bedside screening methods in patients with acute vestibular symptoms will reduce the number of inaccurate diagnoses.Hesselbrock RR. Cerebellar infarction presenting with acute vestibular syndrome in two U.S. Air Force pilots. Aerosp Med Hum Perform. 2017; 88(9):880-883.

  19. Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome.

    PubMed

    Mundaganur, Praveen M; Solwalkar, Pradeep; Nimbal, Vishal

    2014-01-01

    A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly). Though agenesis of cerebellum and brainstem were included in literature, in most of the cases we saw a hypoplasia or atrophy of cerebellum in lissencephaly syndrome. The CT scan findings of this patient shows features of lissencephaly with complete agenesis of brain stem and cerebellum associated with multiple congenital abnormalities.

  20. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

    PubMed Central

    Waterston, J.A.; Halmagyi, G.M.; Mossman, S.; Chancellor, A.M.; McLean, C.A.; Storey, E.

    2011-01-01

    Objective: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features. Methods: Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia. Results: The reported age at onset range was 39–71 years, and symptom duration was 3–38 years. The syndrome was identified in one sibling pair, suggesting that this may be a late-onset recessive disorder, although the other 16 cases were apparently sporadic. All 18 had sensory neuropathy with absent sensory nerve action potentials, although this was not apparent clinically in 2, and the presence of neuropathy was not a selection criterion. In 5, the loss of pinprick sensation was virtually global, mimicking a neuronopathy. However, findings in the other 11 with clinically manifest neuropathy suggested a length-dependent neuropathy. MRI scans showed cerebellar atrophy in 16, involving anterior and dorsal vermis, and hemispheric crus I, while 2 were normal. The inferior vermis and brainstem were spared. Conclusions: Sensory neuropathy is an integral component of this syndrome. It may result in severe sensory loss, which contributes significantly to the disability. The MRI changes are nonspecific, but, coupled with loss of sensory nerve action potentials, may aid diagnosis. We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Neurology® 2011;76:1903–1910 PMID:21624989

  1. Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

    PubMed

    Mimaki, Masakazu; Shiihara, Takashi; Watanabe, Mio; Hirakata, Kyoko; Sakazume, Satoru; Ishiguro, Akio; Shimojima, Keiko; Yamamoto, Toshiyuki; Oka, Akira; Mizuguchi, Masashi

    2015-08-01

    We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis.

  2. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

    PubMed Central

    Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-01-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS. PMID:26932191

  3. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

    PubMed

    Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-08-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.

  4. Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

    PubMed

    Szmulewicz, David J; Seiderer, Linda; Halmagyi, G Michael; Storey, Elsdon; Roberts, Leslie

    2015-04-01

    Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. This study was a neurophysiological investigation of 14 patients with CANVAS. Findings revealed uniformly absent sensory nerve action potentials in all limbs, abnormal blink reflexes in 13 of 14 patients, and abnormal masseter reflexes in 6 of 11 patients. Tibial H-reflexes were absent in 11 of 14 patients. Somatosensory evoked potentials were abnormal in 10 of the 11 patients tested, and brainstem auditory evoked responses were abnormal in 3 of 8. Cutaneous silent period responses were abnormal in 7 of 14 patients. We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction. © 2014 Wiley Periodicals, Inc.

  5. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation)

    SciTech Connect

    Glaser, T.; Maas, R.L. ); Ton, C.C.T.; Housman, D.E. ); Mueller, R.; Oliver, C. ); Petzl-Erler, M.L. ); Nevin, N.C. )

    1994-01-01

    The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. The authors have tested the role of PAX6 mutations in three families with Gillespie syndrome, a rare autosomal recessive condition consisting of partial aniridia, cerebellar ataxia, and mental retardation. Single-strand conformational polymorphism analysis of affected individuals revealed no alteration of PAX6 sequences. In two families, the disease trait segregates independently from chromosome 11p markers flanking PAX6. The authors conclude that Gillespie syndrome is genetically distinct from autosomal dominant aniridia. 28 refs., 2 figs., 1 tab.

  6. [Cerebellar hypoplasias].

    PubMed

    Safronova, Marta Maia; Barbot, Clara; Resende Pereira, Jorge

    2010-01-01

    Cerebellar hypoplasias are cerebellar malformations with small but completely formed cerebellum. They can be divided in focal and in diffuse or generalized. It is sometimes difficult to make distinction between cerebellar atrophy (progressive condition) and hipoplasia (not progressive condition). Focal hypoplasias are restricted to one cerebellar hemisphere or to the vermis. Diffuse hypoplasias refer to both cerebellar hemispheres and vermis. If there is associated IVth ventricle enlargement, hypoplasias occur in the context of Dandy-Walker complex, a continuum of posterior fossa cystic anomalies. A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO síndrome (progressive encephalopathy with oedema, hipsarrhythmia and optic atrophy), Joubert syndrome, congenital disorder of glycosylation type Ia, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia. The imaging finding of structural cerebellar anomalies frequently leads to diagnostic incertainty as the anomalies are mostly unspecific, implying an extenuating analytical and genetic workup. Their knowledge and classification may be useful to decide the patient adjusted laboratorial workup.

  7. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) - a case report and review of literature.

    PubMed

    Figura, Monika; Gaweł, Małgorzata; Kolasa, Anna; Janik, Piotr

    2014-01-01

    CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease.

  8. Altered Cerebellar Activity in Visceral Pain-Related Fear Conditioning in Irritable Bowel Syndrome.

    PubMed

    Claassen, J; Labrenz, F; Ernst, T M; Icenhour, A; Langhorst, J; Forsting, M; Timmann, D; Elsenbruch, S

    2017-04-01

    There is evidence to support a role of the cerebellum in emotional learning processes, which are demonstrably altered in patients with chronic pain. We tested if cerebellar activation is altered during visceral pain-related fear conditioning and extinction in irritable bowel syndrome (IBS). Cerebellar blood oxygenation level-dependent (BOLD) data from N = 17 IBS patients and N = 21 healthy controls, collected as part of a previous fMRI study, was reanalyzed utilizing an advanced normalizing method of the cerebellum. The differential fear conditioning paradigm consisted of acquisition, extinction, and reinstatement phases. During acquisition, two visual conditioned stimuli (CS) were presented either paired (CS+) or unpaired (CS-) with painful rectal distension as unconditioned stimulus (US). In the extinction phase, the CS+ and CS- were presented without US. For reinstatement, unpaired US presentations were followed by unpaired CS+ and CS- presentations. Group differences in cerebellar activation were analyzed for the contrasts CS+ > CS- and CS- > CS+. During acquisition, IBS patients revealed significantly enhanced cerebellar BOLD responses to pain-predictive (CS+) and safety (CS-) cues compared to controls (p < 0.05, family-wise error corrected). Increased activation was found in three main clusters, including the vermis (maximum in vermal lobule VI), intermediate cerebellum (maximum in lobule VIII), and the posterolateral cerebellar hemisphere (maximum in lobule VI). Areas overlapped for the contrasts CS+ > CS- and CS- > CS+. Group differences were most prominent in the contrast CS- > CS+. During extinction and reinstatement, no significant group differences were found. During visceral pain-related fear conditioning, IBS patients showed increased activations in circumscribed areas of the medial, intermediate, and lateral cerebellum. These areas are involved in autonomic, somatosensory, and cognitive functions and likely contribute to the different

  9. Reversible postural orthostatic tachycardia syndrome.

    PubMed

    Abdulla, Aza; Rajeevan, Thirumagal

    2015-07-16

    Postural orthostatic tachycardia syndrome (POTS) is a relatively rare syndrome recognised since 1940. It is a heterogenous condition with orthostatic intolerance due to dysautonomia and is characterised by rise in heart rate above 30 bpm from base line or to more than 120 bpm within 5-10 min of standing with or without change in blood pressure which returns to base line on resuming supine position. This condition present with various disabling symptoms such as light headedness, near syncope, fatigue, nausea, vomiting, tremor, palpitations and mental clouding, etc. However there are no identifiable signs on clinical examination and patients are often diagnosed to have anxiety disorder. The condition predominantly affects young female between the ages of 15-50 but is rarely described in older people. We describe an older patient who developed POTS which recovered over 12 mo. Recognising this condition is important as there are treatment options available to alleviate the disabling symptoms.

  10. Anti-Ri-associated paraneoplastic cerebellar and brainstem degenerative syndrome.

    PubMed

    Tay, J K; Miller, J; Joshi, A; Athey, R J

    2012-01-01

    We present the case of a female patient with a subacute paraneoplastic brainstem neurological syndrome associated with breast cancer and the development of anti-Ri antineuronal antibodies (ANNAs). It is an important syndrome to identify because of the need for urgent investigation and management to reduce progressive and irreversible neurological deterioration and to recognise the associated risks of bulbar and central respiratory failure. Diagnosis can be confounded if the anticipated normality of imaging and cerebrospinal fluid (CSF) studies is not appreciated. Positive antineuronal screening can provide rapid support for a paraneoplastic aetiology. Urgent and extensive investigation to identify the underlying tumour is imperative since neurological outcome is dependent on the rapidity of commencement and efficacy of tumour therapy. We discuss the symptoms, pathophysiology, diagnosis, treatment and prognosis of paraneoplastic neurological syndromes.

  11. Reversible cerebral vasoconstriction syndrome induced by adrenaline.

    PubMed

    Palma, Jose-Alberto; Fontes-Villalba, Ariadna; Irimia, Pablo; Garcia-Eulate, Reyes; Martinez-Vila, Eduardo

    2012-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute severe thunderclap headaches and evidence of multifocal, segmental, reversible vasoconstrictions of the cerebral arteries. Several precipitating factors have been identified and reported, including the use of recreational substances or sympathomimetic drugs and the postpartum state. Here we present the case of a woman who developed RCVS after the administration of adrenaline (epinephrine) in the setting of an anaphylactic reaction during antibiotic allergy testing. To our knowledge, this is the first reported case of RCVS following the administration of exogenous adrenaline. This case contributes to the understanding of the physiopathological mechanisms underlying reversible cerebral vasoconstriction.

  12. Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia.

    PubMed

    Manto, Mario U; Hampe, Christiane S; Rogemond, Véronique; Honnorat, Jérome

    2011-02-04

    To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects. Purified GAD65-Ab from neurological patients and monoclonal GAD65-Ab with distinct epitope specificities (b78 and b96.11) were administered in vivo to rat cerebellum. Effects of intra-cerebellar administration of GAD65-Ab were determined using neurophysiological and neurochemical methods. Intra-cerebellar administration of GAD65-Ab from a SPS patient (Ab SPS) impaired the NMDA-mediated turnover of glutamate, but had no effect on NMDA-mediated turnover of glycerol. By contrast, GAD65-Ab from a patient with cerebellar ataxia (Ab CA) markedly decreased the NMDA-mediated turnover of glycerol. Both GAD65-Ab increased the excitability of the spinal cord, as assessed by the F wave/M wave ratios. The administration of BFA, an inhibitor of the recycling of vesicles, followed by high-frequency stimulation of the cerebellum, severely impaired the cerebello-cortical inhibition only when Ab CA was used. Moreover, administration of transcranial direct current stimulation (tDCS) of the motor cortex revealed a strong disinhibition of the motor cortex with Ab CA. Monoclonal antibodies b78 and b96.11 showed distinct effects, with greater effects of b78 in terms of increase of glutamate concentrations, impairment of the adaptation of the motor cortex to repetitive peripheral stimulation, disinhibition of the motor cortex following tDCS, and increase of the F/M ratios. Ab SPS shared antibody characteristics with b78, both in epitope recognition and ability to inhibit enzyme activity, while Ab CA had no effect on GAD65 enzyme activity. These results suggest that, in vivo, neurological impairments caused by GAD65-Ab could vary according to epitope specificities. These results could explain the different neurological syndromes observed in patients with GAD65-Ab.

  13. Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia

    PubMed Central

    2011-01-01

    Background To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects. Methods Purified GAD65-Ab from neurological patients and monoclonal GAD65-Ab with distinct epitope specificities (b78 and b96.11) were administered in vivo to rat cerebellum. Effects of intra-cerebellar administration of GAD65-Ab were determined using neurophysiological and neurochemical methods. Results Intra-cerebellar administration of GAD65-Ab from a SPS patient (Ab SPS) impaired the NMDA-mediated turnover of glutamate, but had no effect on NMDA-mediated turnover of glycerol. By contrast, GAD65-Ab from a patient with cerebellar ataxia (Ab CA) markedly decreased the NMDA-mediated turnover of glycerol. Both GAD65-Ab increased the excitability of the spinal cord, as assessed by the F wave/M wave ratios. The administration of BFA, an inhibitor of the recycling of vesicles, followed by high-frequency stimulation of the cerebellum, severely impaired the cerebello-cortical inhibition only when Ab CA was used. Moreover, administration of transcranial direct current stimulation (tDCS) of the motor cortex revealed a strong disinhibition of the motor cortex with Ab CA. Monoclonal antibodies b78 and b96.11 showed distinct effects, with greater effects of b78 in terms of increase of glutamate concentrations, impairment of the adaptation of the motor cortex to repetitive peripheral stimulation, disinhibition of the motor cortex following tDCS, and increase of the F/M ratios. Ab SPS shared antibody characteristics with b78, both in epitope recognition and ability to inhibit enzyme activity, while Ab CA had no effect on GAD65 enzyme activity. Conclusions These results suggest that, in vivo, neurological impairments caused by GAD65-Ab could vary according to epitope specificities. These results could explain the different neurological syndromes observed in patients with GAD65-Ab. PMID:21294897

  14. Sheehan syndrome with reversible dilated cardiomyopathy.

    PubMed

    Laway, Bashir A; Alai, Mohammad S; Gojwari, Tariq; Ganie, Mohd A; Zargar, Abdul Hamid

    2010-01-01

    Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome.

  15. Crossed cerebro-cerebellar atrophy with Dyke Davidoff Masson syndrome.

    PubMed

    Algahtani, Hussein A; Aldarmahi, Ahmed A; Al-Rabia, Mohammed W; Young, G Bryan

    2014-01-01

    Dyke Davidoff Masson syndrome (DDMS) refers to atrophy or hypoplasia of one cerebral hemisphere following a prior fetal or childhood insult. It has characteristics of clinical and radiological changes. These changes include hemiparesis, seizures, facial-asymmetry, and mental retardation. We present a 25-year-old man with crossed cerebrocerebellar atrophy and DDMS. His seizures were well controlled using a combination of antiepileptic drugs.

  16. Magnetic resonance imaging depiction of acquired Dyke-Davidoff-Masson syndrome with crossed cerebro-cerebellar diaschisis: Report of two cases.

    PubMed

    Gupta, Ranjana; Joshi, Sandeep; Mittal, Amit; Luthra, Ishita; Mittal, Puneet; Verma, Vibha

    2015-01-01

    Acquired Dyke-Davidoff-Masson syndrome, also known as hemispheric atrophy, is characterized by loss of volume of one cerebral hemisphere from an insult in early life. Crossed cerebellar diaschisis refers to dysfunction/atrophy of cerebellar hemisphere which is secondary to contralateral supratentorial insult. We describe magnetic resonance imaging findings in two cases of acquired Dyke-Davidoff-Masson syndrome with crossed cerebro-cerebellar diaschisis.

  17. Magnetic resonance imaging depiction of acquired Dyke–Davidoff–Masson syndrome with crossed cerebro-cerebellar diaschisis: Report of two cases

    PubMed Central

    Gupta, Ranjana; Joshi, Sandeep; Mittal, Amit; Luthra, Ishita; Mittal, Puneet; Verma, Vibha

    2015-01-01

    Acquired Dyke–Davidoff–Masson syndrome, also known as hemispheric atrophy, is characterized by loss of volume of one cerebral hemisphere from an insult in early life. Crossed cerebellar diaschisis refers to dysfunction/atrophy of cerebellar hemisphere which is secondary to contralateral supratentorial insult. We describe magnetic resonance imaging findings in two cases of acquired Dyke–Davidoff–Masson syndrome with crossed cerebro-cerebellar diaschisis. PMID:26557182

  18. Breast cancer revealed by a paraneoplastic cerebellar syndrome: about one case and literature review.

    PubMed

    Adama, Dembélé; Moussa, Bambara; Emmanuel, Macoumi; Dennis, Ullmann

    2015-01-01

    To describe a case of breast cancer manifested by cerebellar syndrome and to establish a relationship between breast cancer and Paraneoplastic syndromes through the presence of anti- yo antibodies in serum and cerebrospinal fluid of a patient. Our patient was 52 years old, Multipara with 5 children alive. She had been 3 years post-menopausal under Hormonal Replacement Therapy. Weight: 46.7 Kg; Height: 1.60 m; Body Surface Area: 1.59 m(2). Nil history of alcohol or tobacco smoking. Nil history suggestive of malignancies or autoimmune diseases. Her Blood group was oRh positive, nil presence of irregular agglutinins. She was admitted to the neurology service for vertigo and it was determined an isolated cerebellar syndrome. All tests were negative including tumor markers and radiological imaging. The clinical gynecological examination was perfectly normal. The diagnosis hypothesis was "meningo-encephalocerebellitis of viral origin" but with persistence and aggravation of the cerebellar syndrome, despite treatment. We decided to search, antibodies, anti-Hu, anti-Yo, anti-Ri, and anti Ta. Anti Yo was positive + + + in the cerebrospinal fluid and serum of the patient. The search for a gynecological cancer included a mammography which revealed micro calcifications in the left breast + + +. A lumpectomy of the left breast accompanied with x-ray identification of the micro calcifications was done and the histology showed a High Grade Intraductal carcinoma of the left breast with two homes of 3mm and 1 mm, corresponding to an infiltrating carcinoma of the left breast, grade II tumor of Scarff and Bloom (SBRII, 21 N + / 26, RH +, low Ki 67) and Estrogen and progesterone receptor positive +: multifocal cancer. Following the lumpectomy, mastectomy with ganglion clearing was done with adjuvant chemotherapy (FEC 6 Cycles): histology still showed Infiltrating Intraductal Carcinoma of the left breast, grade II tumor of Scarff and Bloom. Radiotherapy was followed and he patient was

  19. Cerebellar ataxias.

    PubMed

    Manto, Mario; Marmolino, Daniele

    2009-08-01

    The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The clinical diagnosis of subtypes of ataxias is complicated by the salient overlap of the phenotypes between genetic subtypes. The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias. We describe the current classification of cerebellar ataxias and underline the recent discoveries in molecular pathogenesis. Cerebellar disorders can be divided into sporadic forms and inherited diseases. Inherited ataxias include autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias/spinocerebellar ataxia) and episodic ataxias, and X-linked ataxias. From a motor control point of view, the leading theories of ataxia are based on neural representations or 'internal models' to emulate fundamental natural processes such as body motion. Recent molecular advances have direct implications for research and daily practice. We provide a framework for the diagnosis of ataxias. For the first time, the therapeutic agents under investigation are targeted to deleterious pathways.

  20. Cyclophosphamide-induced reversible posterior leukoencephalopathy syndrome.

    PubMed

    Abenza-Abildua, Maria Jose; Fuentes, Blanca; Diaz, Domingo; Royo, Aranzazu; Olea, Teresa; Aguilar-Amat, Maria Jose; Diez-Tejedor, Exuperio

    2009-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical radiological syndrome, characterised by acute headache, altered consciousness, seizures and hypertension. The most frequent causes are hypertensive encephalopathy, eclampsia and some immunosuppressive therapies. The pathogenesis remains unclear, but it appears to be related to altered cerebral circulation, producing oedema that can be seen on MRI, and it resolves in 2 or 3 weeks. In the present report, a possible first reported case of cyclophosphamide-induced RPLS in a 27-year-old man with high blood pressure (HBP) and glomerulonephritis caused by Goodpasture syndrome, treated with cyclophosphamide during the last month and prednisone for glomerulonephritis resulting from Goodpasture syndrome without other immunosuppressive drugs, is described.Symptoms appeared during a hypertensive crisis, but when cyclophosphamide was replaced by rituximab and hypertension was controlled, the patient did not have neurological symptoms. Almost all reported cases induced by immunosuppressive therapy or other causes were associated with hypertension as well.

  1. Cyclophosphamide-induced reversible posterior leukoencephalopathy syndrome

    PubMed Central

    Abenza-Abildua, Maria Jose; Fuentes, Blanca; Diaz, Domingo; Royo, Aranzazu; Olea, Teresa; Aguilar-Amat, Maria Jose; Diez-Tejedor, Exuperio

    2009-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical radiological syndrome, characterised by acute headache, altered consciousness, seizures and hypertension. The most frequent causes are hypertensive encephalopathy, eclampsia and some immunosuppressive therapies. The pathogenesis remains unclear, but it appears to be related to altered cerebral circulation, producing oedema that can be seen on MRI, and it resolves in 2 or 3 weeks. In the present report, a possible first reported case of cyclophosphamide-induced RPLS in a 27-year-old man with high blood pressure (HBP) and glomerulonephritis caused by Goodpasture syndrome, treated with cyclophosphamide during the last month and prednisone for glomerulonephritis resulting from Goodpasture syndrome without other immunosuppressive drugs, is described. Symptoms appeared during a hypertensive crisis, but when cyclophosphamide was replaced by rituximab and hypertension was controlled, the patient did not have neurological symptoms. Almost all reported cases induced by immunosuppressive therapy or other causes were associated with hypertension as well. PMID:21686794

  2. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

    PubMed

    Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

    2014-11-06

    Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.

  3. Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study.

    PubMed

    Nicita, Francesco; Paiano, Milena; Liberatore, Mauro; Spalice, Alberto; Papoff, Paola; Ullo, Mariacristina; Piccirilli, Manolo; Clerico, Anna; Schiavetti, Amalia

    2017-03-01

    Post-operative pediatric cerebellar mutism syndrome (PPCMS) is a clinical syndrome arising from cerebellar injury and characterized by absence of speech and other possible symptoms and signs. Rare reports described some benefit after administration of dopamine agonist therapy, but no treatment has proven efficacy. In this paper, we report on the dramatic, sudden resolution of PPCMS induced by midazolam administration in a boy who underwent posterior fossa surgery for choroid plexus papilloma of the fourth ventricle. In addition to clinical improvement, post-midazolam single-photon emission computed tomography also demonstrated amelioration of brain perfusion.

  4. Reversible cerebral vasoconstriction syndrome: a comprehensive update.

    PubMed

    Mehdi, Ali; Hajj-Ali, Rula A

    2014-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature.

  5. Idiopathic reversible cerebral vasoconstriction syndrome (RCVS).

    PubMed

    Abkur, Tarig Mohammed; Saeed, Mamoun; Alfaki, Nidal Osman; O'Connor, Margaret

    2014-10-15

    Reversible cerebral vasoconstriction syndrome is characterised by severe thunderclap headache with associated characteristic transient, multifocal, segmental vasoconstriction of cerebral arteries lasting several weeks to months. We describe a 50-years old woman who presented with a severe sudden onset occipital headache. Neuroimaging revealed segmental vasospasm affecting the intracerebral arteries. The pain improved gradually over the next 6 weeks. Repeat brain MR angiography at 12 weeks showed complete resolution of the segmental narrowing. 2014 BMJ Publishing Group Ltd.

  6. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction

    PubMed Central

    Takata, Tadayuki; Kume, Kodai; Kokudo, Yohei; Ikeda, Kazuyo; Kamada, Masaki; Touge, Tetsuo; Deguchi, Kazushi; Masaki, Tsutomu

    2017-01-01

    A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator. Repeated MRI and magnetic resonance angiography revealed exacerbated PRES, part of which showed a small infarction, accompanied by progressive vasoconstriction. These findings suggest that the recovery of NO by heme replacement alone is insufficient for preventing brain damage during an AIP attack. PMID:28321076

  7. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    PubMed Central

    Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip; Esko, Jeffrey D.; Buschman, Matthew D.; Fields, Seth J.; Napolitano, Gennaro; Ozgul, R. Koksal; Sagiroglu, Mahmut Samil; Azam, Matloob; Ismail, Samira; Aglan, Mona; Selim, Laila; Gamal, Iman; Hadi, Sawsan Abdel; El Badawy, Amera; Sadek, Abdelrahim A.; Mojahedi, Faezeh; Kayserili, Hulya; Masri, Amira; Bastaki, Laila; Temtamy, Samia; Müller, Ulrich; Desguerre, Isabelle; Casanova, Jean-Laurent; Dursun, Ali; Gunel, Murat; Gabriel, Stacey B.; de Lonlay, Pascale; Gleeson, Joseph G.

    2015-01-01

    Pediatric-onset ataxias often present clinically with developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a novel clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in sorting nexin 14 (SNX14), encoding a ubiquitously expressed modular PX-domain-containing sorting factor. We found SNX14 localized to lysosomes, and associated with phosphatidyl-inositol (3,5)P2, a key component of late endosomes/lysosomes. Patient cells showed engorged lysosomes and slower autophagosome clearance rate upon starvation induction. Zebrafish morphants showed dramatic loss of cerebellar parenchyma, accumulated autophagosomes, and activation of apoptosis. Our results suggest a unique ataxia syndrome due to biallelic SNX14 mutations, leading to lysosome-autophagosome dysfunction. PMID:25848753

  8. Reversible cerebral vasoconstriction syndrome combined with posterior reversible encephalopathy syndrome after heart transplantation.

    PubMed

    Ban, Seung Pil; Hwang, Gyojun; Kim, Chang Hyeun; Kwon, O-Ki

    2017-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) combined with posterior reversible encephalopathy syndrome (PRES) is a rare complication in patients treated with immunosuppressants. A 52-year-old male patient presented with seizures after heart transplantation. The patient was suspected of having PRES on brain images. Despite the strict blood pressure control, the patient presented with altered mentality and the brain images showed a newly developed large acute infarction. Digital subtraction angiography (DSA) revealed the classic "sausage on a string" appearance of the cerebral arteries - potential feature of RCVS. To our knowledge, this is the first case report to describe RCVS combined with PRES after heart transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Posterior reversible encephalopathy syndrome in Guillain-Barré syndrome.

    PubMed

    Chen, Adam; Kim, Jennifer; Henderson, Galen; Berkowitz, Aaron

    2015-05-01

    Autonomic dysfunction is a well-known complication of Guillain-Barré syndrome (GBS) and may manifest as hemodynamic fluctuations. Posterior reversible encephalopathy syndrome (PRES) is commonly associated with acute hypertension, but is rarely reported to occur in association with GBS. We describe a patient with GBS who developed PRES in the setting of autonomic dysfunction and review the clinical features of all 12 previously reported patients with co-occurrence of GBS and PRES. Almost all cases have occurred in women over the age of 55, raising the possibility of increased sensitivity to dysautonomia in this patient group. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. [Posterior reversible encephalopathy syndrome: Report of a fatal case and analysis of predictive factors of a poor prognosis].

    PubMed

    Torres, Moisés Ulises; Delgado, Ligia Victoria; Giraldo, Natalia; Urueña, Piedad; Franco, Sergio; Hernández, Olga Helena

    2017-04-01

    Posterior reversible encephalopathy syndrome is an illness with multiple causes and distinctive clinicalradiological characteristics that should be known by intensivists and emergency room physicians for a timely diagnosis and treatment. A fatal case of posterior reversible encephalopathy syndrome is presented, and the risk factors related to the outcome are identified.A 60-year-old man without a relevant medical history arrived at the emergency room presenting with depressed consciousness, seizures, and high blood pressure. Tomographic images revealed a posterior cerebellar hematoma. Resonance images showed ischemic zones, vasogenic edema from the thalamus to the brain stem, middle cerebellar peduncles, deep white matter of the cerebral hemispheres, and zones of hemorrhagic transformation. Despite medical-surgical management, the patient died. The risk factors described as the cause of the fatal outcome were identified. This case demonstrates that posterior reversible encephalopathy syndrome can occur without triggering risk factors and highlights the need for early recognition to establish an appropriate intervention to avoid injury or a fatal outcome. Cases of posterior reversible encephalopathy syndrome provide opportunities to investigate the susceptibility for the development of this condition and to establish appropriate preventive measures.

  11. Posterior reversible encephalopathy syndrome(PRES).

    PubMed

    Sudulagunta, Sreenivasa Rao; Sodalagunta, Mahesh Babu; Kumbhat, Monica; Settikere Nataraju, Aravinda

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome characterized by a headache, seizures, altered mental status and visual loss and characterized by white matter vasogenic edema affecting the posterior occipital and parietal lobes of the brain predominantly. This clinical syndrome is increasingly recognized due to improvement and availability of brain imaging specifically magnetic resonance imaging (MRI). A 35-year-old female with the history of unsafe abortion and massive blood transfusion 10 days ago was brought to the emergency room with three episodes of generalized tonic-clonic seizures, urinary incontinence and altered sensorium since 3 hours. MRI brain showed bilateral occipital, parietal, frontal cortex and subcortical white matter T2/Fluid-attenuated inversion recovery hyperintensities, suggestive of PRES. The patient improved after management with intravenous fluids, antibiotics, antiepileptics and monitoring of blood pressure. If recognized and treated early, the clinical syndrome commonly resolves within a week. PRES can be a major problem in rapid and massive blood transfusion. A high index of suspicion and prompt treatment can reduce morbidity, mortality and pave the path for early recovery.

  12. Reverse mutations in fragile X syndrome

    SciTech Connect

    Brown, W.T.; Nolin, S.; Houck, G.E.

    1994-09-01

    The fragile X syndrome is the most common inherited form of mental retardation. Yet new mutations have not been described and no affected child has been born to a carrier mother having less than 60 FMR-1 CGG triplet repeats. Reverse mutations also appear to be very rare. We have previously identified the daughter of a premutation mother (95 CGGs) who inherited a normal repeat size of 35 as a reverse mutation. In the process of carrier testing by PCR, we have now identified two additional females with reverse mutations. All three of these reverse mutation women were previously tested by linkage as part of known fragile X families (subsequently confirmed by direct analysis), and assigned a > 99% risk as a carrier. In the second family, the mother carries a premutation allele of 95 repeats and the daughter inherited a 43 repeat allele. Prior to direct DNA testing, she had a positive prenatal diagnosis by linkage (> 99% risk) and cytogenetics with 3/450 cells apparently positive. Subsequent retesting of the products of conception by PCR now reveals a 43 repeat allele from her carrier mother with an 82 repeat allele. Testing with close CA markers (FRAXAC1 and DXS548) confirmed that these women inherited the same chromosome and their full mutation brothers. Further analysis is pending. These examples of reverse mutations are the only ones we have identified in our study of offspring of more than 200 carriers (400+ meioses) examined to date. Therefore, we conclude the frequency of fragile X back mutations is likely to be less than 1%. Retesting of linkage positive carriers is recommended to detect reverse mutations and assure accurate genetic counseling.

  13. Reversible Cerebral Vasoconstriction Syndrome and Posterior Reversible Encephalopathy Syndrome Presenting with Deep Intracerebral Hemorrhage in Young Women

    PubMed Central

    Lee, Won Jae; JO, Kyung-Il; Kim, Jong-Soo; Hong, Seung-Chyul

    2015-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a group of syndromes characterized by reversible segmental constriction of cerebral arteries. Posterior reversible encephalopathy syndrome (PRES) is another clinical-radiologic syndrome characterized by reversible, posterior-predominant brain edema. Although the exact causes of these reversible syndromes are poorly understood, these entities may share some common pathophysiologic elements leading to hemorrhagic strokes and rarely, deep intracerebral hemorrhage (ICH). Recent studies have suggested that endothelial dysfunction is a common pathophysiologic factor associated with these syndromes. We report on two young female patients who presented with deep ICH and were later diagnosed as RCVS and PRES. Both patients suffered from vasoconstriction and delayed ischemic stroke. Early detection of distinguishing clinical-radiologic features associated with these reversible syndromes and removing triggers would facilitate successful treatment with no complications. PMID:26523259

  14. Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

    PubMed Central

    Romani, Marta; Micalizzi, Alessia; Valente, Enza Maria

    2013-01-01

    Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hypotonia evolving into ataxia, global developmental delay, ocular motor apraxia and breathing dysregulation. These are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton and liver. To date, 21 causative genes have been identified, all encoding for proteins of the primary cilium or its apparatus. This is a subcellular organelle that plays key roles in development and in many cellular functions, making JS part of the expanding family of ciliopathies. There is marked clinical and genetic overlap among distinct ciliopathies, which may co-occur even within families. Such variability is likely explained by an oligogenic model of inheritance, in which mutations, rare variants and polymorphisms at distinct loci interplay to modulate the expressivity of the ciliary phenotype. PMID:23870701

  15. Successful neuropsychological rehabilitation in a patient with Cerebellar Cognitive Affective Syndrome.

    PubMed

    Ruffieux, N; Colombo, F; Gentaz, E; Annoni, J-M; Chouiter, L; Roulin Hefti, S; Ruffieux, A; Bihl, T

    2017-01-01

    The objective of this case study was to describe the neuropsychological rehabilitation of a 16-year-old patient who presented a Cerebellar Cognitive Affective Syndrome (CCAS) following a bilateral cerebellar hemorrhage. The patient presented severe and diffuse cognitive deficits, massive behavioral disorders, and emotion regulation difficulties. The cognitive rehabilitation was performed in the chronic phase (one year after the onset of the hemorrhage) using a transdisciplinary neurobehavioral approach based on the patient's favorite interest (soccer). A significant behavioral and cognitive improvement was observed. The patient became progressively independent in all activities of daily living and was discharged home. The Functional Independence Measure at discharge was 124/126 (vs. 37/126 at entry). The patient was able to complete his schooling despite the mild cognitive and behavioral sequelae. This first description of the use of neurobehavioral therapy in a case of chronic CCAS suggests that (a) major clinical improvement can occur more than one year after the onset of the CCAS, showing the importance of long-term and intensive neurorehabilitation; and (b) when the cerebellum cannot properly play its regulator role in cognition, neuropsychological intervention through a behavioral and cognitive approach can be of great help by acting as an external modulator to help the patient regain control over himself.

  16. Cerebellar involvement in motor speech planning: some further evidence from foreign accent syndrome.

    PubMed

    Mariën, Peter; Verhoeven, Jo

    2007-01-01

    Foreign accent syndrome (FAS) is a rare speech disorder that usually follows from damage to the motor speech areas of the language-dominant hemisphere. Recently, a vascular FAS patient was reported in whom a close parallelism was found between the infratentorial perfusional changes on SPECT and the regression of FAS symptoms. Based on the correlation between the near remission of a right cerebellar hypoperfusion and the near remission of FAS, it was hypothesized that the 'linguistic cerebellum' might be involved in the pathogenesis of motor speech planning disorders [Clin Neurol Neurosurg 2006;108:518-522]. In this article the presumed role of the cerebellum in FAS is further investigated on the basis of an additional FAS case. Phonetic, neurobehavioral and neuroimaging data were analyzed and clinical-anatomical correlations were investigated. In both patients, a close correspondence was found between the neurolinguistic findings and the functional neuroimaging data. (99m)Tc ECD SPECT follow-up studies demonstrated that clinical recovery of FAS symptoms was accompanied by a remission of a right cerebellar hypoperfusion. The present study, in which the data of a new FAS patient are discussed, corroborates the view that FAS may follow disruption of a close functional interplay between the supra- and infratentorial motor speech centers. Copyright 2007 S. Karger AG, Basel.

  17. Reversible Cerebral Vasoconstriction Syndrome: Recognition and Treatment.

    PubMed

    Cappelen-Smith, Cecilia; Calic, Zeljka; Cordato, Dennis

    2017-06-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare but increasingly recognized disorder with over 500 cases published in the literature. The condition is characterized by recurrent severe thunderclap headaches with or without other neurological symptoms and diffuse segmental narrowing of the cerebral arteries which is reversible within 3 months. RCVS may occur spontaneously but in over 50% of cases, it is associated with various other conditions, including vasoactive medications or illicit drugs and the post-partum state. One third to a half of cases develop hemorrhagic or ischemic brain lesions or a combination of both. Posterior reversible encephalopathy syndrome (PRES) often occurs in association with RCVS and the conditions are likely to share a common pathophysiology. The pathogenesis of RCVS remains uncertain but autonomic dysregulation, oxidative stress, and genetic predisposition are postulated. Significant differential diagnoses include subarachnoid hemorrhage (SAH) due to aneurysmal rupture, cervical artery dissection, and primary angiitis of the central nervous system (PACNS). Although there is no proven treatment, calcium channel antagonists including nimodipine and verapamil have been administered with reported reduction of headache intensity but without effect on the time course of cerebral vasoconstriction. Glucocorticoids have been reported as an independent predictor of worse outcome and should be avoided. The cornerstone of RCVS management remains largely supportive with bed rest and analgesics and removal of precipitating factors. Invasive neurointerventional techniques should be reserved for severe deteriorating cases. The condition is usually benign and self-limited and the majority of patients have a favorable outcome but around 5-10% are left with permanent neurological deficits and rare cases may die. This review details the importance of the early recognition of this increasingly described condition and current treatment

  18. Posterior reversible encephalopathy syndrome in a patient with hepatitis B induced type 1 membranoproliferative glomerulonephritis.

    PubMed

    Sathyanarayanan, Vishwanath; Razak, Abdul; Narayan, Girish; Prabhu, Mukhyaprana; Ramachandran, Balasubramanian; Ranjini, Kudva; Vidya, Monappa; Joshi, Kusum

    2010-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare complication of nephrotic syndrome and corticosteroid therapy. Here, we discuss an 18 year old man with type 1 membranoproliferative glomerulonephritis (MPGN) secondary to hepatitis B infection who developed posterior leukoencephalopathy while on therapy with lamivudine and prednisone. He developed seizures and vision loss. He also had hypertension, but no sudden elevation was recorded at any time. Magnetic resonance imaging revealed patchy areas of altered signal intensity involving cortical gray and subcortical white matter in the bilateral frontoparietal regions, occipital cortices, temporal cortices and cerebellar hemispheres, and hyperintensity on T2W and FLAIR sequences. Tapering of prednisone and controlling hypertension resulted in clinical improvement within a few days, and in a month MRI was normal. Diagnosing PRES requires a high index of suspicion when treating similarly susceptible patients. PRES as a complication during the treatment of MPGN secondary to hepatitis B has, to our knowledge, never been reported previously in the literature.

  19. Duloxetine-related posterior reversible encephalopathy syndrome

    PubMed Central

    Zappella, Nathalie; Perier, François; Pico, Fernando; Palette, Catherine; Muret, Alexandre; Merceron, Sybille; Girbovan, Andrei; Marquion, Fabien; Legriel, Stephane

    2016-01-01

    Abstract Background: Posterior reversible encephalopathy syndrome (PRES) has well-established links with several drugs. Whether a link also exists with serotonin–norepinephrine reuptake inhibitor such as duloxetine is unclear. Methods: We report on a patient who developed PRES with a coma and myoclonus related to hypertensive encephalopathy a few days after starting duloxetine treatment. Magnetic resonance imaging was performed and catecholamine metabolites assayed. Results: The patient achieved a full recovery after aggressive antihypertensive therapy and intravenous anticonvulsant therapy. Conclusions: The clinical history, blood and urinary catecholamine and serotonin levels, and response to treatment strongly suggest that PRES was induced by duloxetine. Duloxetine should be added to the list of causes of PRES. PMID:27537580

  20. Systematic review of reversible cerebral vasoconstriction syndrome

    PubMed Central

    Sattar, Ahsan; Manousakis, Georgios; Jensen, Matthew B

    2010-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal arterial constriction and dilation. RCVS is associated with nonaneurysmal subarachnoid hemorrhage, pregnancy and exposure to certain drugs. The primary clinical manifestation is recurrent sudden-onset and severe (‘thunderclap’) headaches over 1–3 weeks, often accompanied by nausea, vomiting, photophobia, confusion and blurred vision. The primary diagnostic dilemma is distinguishing RCVS from primary CNS arteritis. Diagnosis requires demonstration of the characteristic ‘string of beads’ on cerebral angiography with resolution within 1–3 months, although many patients will initially have normal vascular imaging. Many treatments have been reported to ameliorate the headaches of RCVS, but it is unclear whether they prevent hemorrhagic or ischemic complications. PMID:20936928

  1. Systematic review of reversible cerebral vasoconstriction syndrome.

    PubMed

    Sattar, Ahsan; Manousakis, Georgios; Jensen, Matthew B

    2010-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal arterial constriction and dilation. RCVS is associated with nonaneurysmal subarachnoid hemorrhage, pregnancy and exposure to certain drugs. The primary clinical manifestation is recurrent sudden-onset and severe (‘thunderclap’) headaches over 1–3 weeks, often accompanied by nausea, vomiting, photophobia, confusion and blurred vision. The primary diagnostic dilemma is distinguishing RCVS from primary CNS arteritis. Diagnosis requires demonstration of the characteristic ‘string of beads’ on cerebral angiography with resolution within 1–3 months, although many patients will initially have normal vascular imaging. Many treatments have been reported to ameliorate the headaches of RCVS, but it is unclear whether they prevent hemorrhagic or ischemic complications.

  2. Reversible cerebral vasoconstriction syndrome: case report.

    PubMed

    Oz, Oğuzhan; Demirkaya, Seref; Bek, Semai; Eroğlu, Erdal; Ulaş, Umit Hidir; Odabaşi, Zeki

    2009-08-01

    A 28-year-old woman had thunderclap headache (TCH), after 7 days she had left hemiparesis. She had a history of oral contraceptive and citalopram medications. Brain magnetic resonance (MR) angiography demonstrated multiple stenotic segments. Digital subtraction angiography (DSA) showed multiple segments of narrowing in vessel calibre. Two probable diagnoses performed; primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome (RCVS). Because of clinical characteristics and normal cerebrospinal fluid findings she was set on medication for probable RCVS. Follow-up MR angiography after 4 weeks and DSA after 7 weeks demonstrated improvement in vessel calibre. Thus, diagnosis RCVS was established. Diagnosis and management of TCH contain many potential difficulties. Clinicians should consider the imaging of cerebral arteries, even if computed tomography scan and lumbar puncture are normal in TCH. Potential precipitating factors and triggers should also be known and avoided.

  3. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.

    PubMed

    Szmulewicz, David J; Waterston, John A; MacDougall, Hamish G; Mossman, Stuart; Chancellor, Andrew M; McLean, Catriona A; Merchant, Saumil; Patrikios, Peter; Halmagyi, G Michael; Storey, Elsdon

    2011-09-01

    The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign--an absent visually enhanced vestibulo-ocular reflex--in 2004. We reviewed 27 patients with this syndrome and show that a non-length-dependent sensory deficit with absent sensory nerve action potentials is an integral component of this syndrome, which we now call "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" (CANVAS). All patients had brain MRI and 22/27 had evidence of cerebellar atrophy involving anterior and dorsal vermis, as well as the hemispheric crus I. Brain and temporal bone pathology in one patient showed marked loss of Purkinje cells and of vestibular, trigeminal, and facial ganglion cells, but not of spiral ganglion cells. There are two sets of sibling pairs, suggesting CANVAS is a late-onset recessive disorder. The characteristic clinical sign-the visual vestibulo-ocular reflex deficit-can be demonstrated and measured clinically using video-oculography.

  4. Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.

    PubMed

    Egawa, Kiyoshi; Kitagawa, Kyoko; Inoue, Koichi; Takayama, Masakazu; Takayama, Chitoshi; Saitoh, Shinji; Kishino, Tatsuya; Kitagawa, Masatoshi; Fukuda, Atsuo

    2012-12-05

    Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the UBE3A gene encoding a ubiquitin E3 ligase. Motor dysfunction is a characteristic feature of Angelman syndrome, but neither the mechanisms of action nor effective therapeutic strategies have yet been elucidated. We report that tonic inhibition is specifically decreased in cerebellar granule cells of Ube3a-deficient mice, a model of Angelman syndrome. As a mechanism underlying this decrease in tonic inhibition, we show that Ube3a controls degradation of γ-aminobutyric acid (GABA) transporter 1 (GAT1) and that deficiency of Ube3a induces a surplus of GAT1 that results in a decrease in GABA concentrations in the extrasynaptic space. Administering low doses of 4,5,6,7-tetrahydroisothiazolo-[5,4-c]pyridin-3-ol (THIP), a selective extrasynaptic GABA(A) receptor agonist, improves the abnormal firing properties of a population of Purkinje cells in cerebellar brain slices and reduces cerebellar ataxia in Ube3a-deficient mice in vivo. These results suggest that pharmacologically increasing tonic inhibition may be a useful strategy for alleviating motor dysfunction in Angelman syndrome.

  5. Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery.

    PubMed

    Pols, San Y C V; van Veelen, Marie Lise C; Aarsen, Femke K; Gonzalez Candel, Antonia; Catsman-Berrevoets, Coriene E

    2017-07-01

    OBJECTIVE Postoperative cerebellar mutism syndrome (pCMS) occurs in 7%-50% of children after cerebellar tumor surgery. Typical features include a latent onset of 1-2 days after surgery, transient mutism, emotional lability, and a wide variety of motor and neurobehavioral abnormalities. Sequelae of this syndrome usually persist long term. The principal causal factor is bilateral surgical damage (regardless of tumor location) to any component of the proximal efferent cerebellar pathway, which leads to temporary dysfunction of cerebral cortical regions as a result of diaschisis. Tumor type, cerebellar midline location, and brainstem involvement are risk factors for pCMS that have been identified repeatedly, but they do not explain its latent onset. Ambiguous or negative results for other factors, such as hydrocephalus, postoperative meningitis, length of vermian incision, and tumor size, have been reached. The aim of this study was to identify perioperative clinical, radiological, and laboratory factors that also increase risk for the development of pCMS. The focus was on factors that might explain the delayed onset of pCMS and thus might provide a time window for taking precautionary measures to prevent pCMS or reduce its severity. The study was focused specifically on children who had undergone surgery for medulloblastoma. METHODS In this single-center retrospective cohort study, the authors included 71 children with medulloblastoma, 28 of whom developed pCMS after primary resection. Clinical and laboratory data were collected prospectively and analyzed systematically. Variables were included for univariate and multivariate analysis. RESULTS Univariate regression analysis revealed 7 variables that had a significant influence on pCMS onset, namely, tumor size, maximum tumor diameter > 5 cm, tumor infiltration or compression of the brainstem, significantly larger decreases in hemoglobin (p = 0.010) and hematocrit (p = 0.003) in the pCMS group after surgery than in the

  6. Posterior reversible encephalopathy syndrome: a variant of hypertensive encephalopathy.

    PubMed

    Mirza, Ayoub

    2006-06-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described variant of hypertensive encephalopathy characterized by headache, visual disturbances and altered mental function. Its causes are diverse and in contrast to hypertensive encephalopathy, it can develop without significant elevation of blood pressure. This syndrome is mostly reversible when correctly managed; however, failure to recognize it can lead to cerebral infarction and death.

  7. Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias.

    PubMed

    Mitoma, Hiroshi; Adhikari, Keya; Aeschlimann, Daniel; Chattopadhyay, Partha; Hadjivassiliou, Marios; Hampe, Christiane S; Honnorat, Jérôme; Joubert, Bastien; Kakei, Shinji; Lee, Jongho; Manto, Mario; Matsunaga, Akiko; Mizusawa, Hidehiro; Nanri, Kazunori; Shanmugarajah, Priya; Yoneda, Makoto; Yuki, Nobuhiro

    2016-04-01

    In the last few years, a lot of publications suggested that disabling cerebellar ataxias may develop through immune-mediated mechanisms. In this consensus paper, we discuss the clinical features of the main described immune-mediated cerebellar ataxias and address their presumed pathogenesis. Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune cerebellar ataxia, gluten ataxia, Miller Fisher syndrome, ataxia associated with systemic lupus erythematosus, and paraneoplastic cerebellar degeneration. Humoral mechanisms, cell-mediated immunity, inflammation, and vascular injuries contribute to the cerebellar deficits in immune-mediated cerebellar ataxias.

  8. Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

    PubMed

    Wu, Teddy Y; Taylor, Jennifer M; Kilfoyle, Dean H; Smith, Andrew D; McGuinness, Ben J; Simpson, Mark P; Walker, Elizabeth B; Bergin, Peter S; Cleland, James C; Hutchinson, David O; Anderson, Neil E; Snow, Barry J; Anderson, Tim J; Paermentier, Laura A F; Cutfield, Nick J; Chancellor, Andrew M; Mossman, Stuart S; Roxburgh, Richard H

    2014-10-01

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms. We also found a higher rate of downbeat nystagmus (65%) than previously described in CANVAS. We confirmed that sensory findings on nerve conduction tests were consistent with a sensory ganglionopathy and describe two patients with loss of trigeminal sensation consistent with previous pathological descriptions of trigeminal sensory ganglionopathy. Our results suggest that autonomic dysfunction is a major feature of CANVAS. This has implications for the management of patients with CANVAS as the autonomic symptoms may be amenable to treatment. The findings also provide an important differential diagnosis from multiple system atrophy for patients who present with ataxia and autonomic failure.

  9. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

    PubMed Central

    Hills, L. Benjamin; Masri, Amira; Konno, Kotaro; Kakegawa, Wataru; Lam, Anh-Thu N.; Lim-Melia, Elizabeth; Chandy, Nandini; Hill, R. Sean; Partlow, Jennifer N.; Al-Saffar, Muna; Nasir, Ramzi; Stoler, Joan M.; Barkovich, A. James; Watanabe, Masahiko; Yuzaki, Michisuke

    2013-01-01

    Objective: To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. Methods: We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphism genotyping, linkage analysis, array comparative genomic hybridization, quantitative PCR, and Sanger sequencing. We obtained eye movement recordings of mutant mice deficient for the ortholog of the identified candidate gene, and performed immunohistochemistry using human and mouse brain specimens. Results: All affected individuals had ataxia, eye movement abnormalities, most notably tonic upgaze, and delayed speech and cognitive development. Homozygosity mapping identified the disease locus on chromosome 4q. Within this region, a homozygous deletion of GRID2 exon 4 in the index family and compound heterozygous deletions involving GRID2 exon 2 in the second family were identified. Grid2-deficient mice showed larger spontaneous and random eye movements compared to wild-type mice. In developing mouse and human cerebella, GRID2 localized to the Purkinje cell dendritic spines. Brain MRI in 2 affected children showed progressive cerebellar atrophy, which was more severe than that of Grid2-deficient mice. Conclusions: Biallelic deletions of GRID2 lead to a syndrome of cerebellar ataxia and tonic upgaze in humans. The phenotypic resemblance and similarity in protein expression pattern between humans and mice suggest a conserved role for GRID2 in the synapse organization between parallel fibers and Purkinje cells. However, the progressive and severe cerebellar atrophy seen in the affected individuals could indicate an evolutionarily unique role for GRID2 in the human cerebellum. PMID:24078737

  10. Anti-Hu paraneoplastic syndrome presenting with brainstem-cerebellar symptoms and Lambert-Eaton myasthenic syndrome.

    PubMed

    Nagashima, Toshiko; Mizutani, Yasuyuki; Kawahara, Hiromasa; Maguchi, Shiro; Terayama, Yoshihiko; Shinohara, Toshiya; Orba, Yasuko; Chuma, Takayo; Mano, Yukio; Itoh, Tomoo; Sawa, Hirofumi; Sakai, Koichiro; Motomura, Masakatsu; Nagashima, Kazuo

    2003-09-01

    Paraneoplastic syndrome (PNS) with two distinct neurological features was reported in a 50-year-old man who presented initially with vertigo, ataxia, dysarthria, tremor, confusion, urinary retention and hypotension. Pulmonary X-ray findings, class IIIb sputum cytology, and positive anti-Hu antibody established the diagnosis of PNS associated with small-cell lung cancer (SCLC). Two cycles of combined chemotherapy resulted in shrinkage of the lung tumor together with complete recovery of neurological symptoms and disappearance of anti-Hu antibody. Relapse of SCLC 4 months later with re-appearance of anti-Hu antibody required additional chemotherapy and irradiation. Eight months later, when multiple liver metastasis of SCLC was noticed, muscular weakness with positive waxing phenomenon compatible with Lambert-Eaton myasthenic syndrome (LEMS) developed. Postmortem examinations revealed residual SCLC in the primary lung, and massive liver metastasis with generalized lymph node involvement, but no tumors in the CNS. In the cerebellum, there was a slight loss of Purkinje cells with torpedo formation but without apparent lymphocytic infiltration. The present PNS was unique in that the relapse of SCLC was accompanied by the appearance of anti-Hu antibody, and that initial signs of brainstem-cerebellar symptoms, encephalopathy and autonomic failure were replaced by LEMS coinciding with the tumor recurrence.

  11. Reversible metronidazole-induced cerebellar toxicity in a multiple transplant recipient.

    PubMed

    Graves, Tracey D; Condon, Marie; Loucaidou, Marina; Perry, Richard J

    2009-10-15

    Metronidazole-induced central nervous system (CNS) toxicity causes a spectrum of neurological symptoms including ataxia, encephalopathy and peripheral neuropathy. It is associated with characteristic MRI changes of high signal intensity in the dentate nuclei. Given the increasing use of metronidazole, it is import to recognise this drug as a cause of ataxia, as it is entirely reversible on drug withdrawal.

  12. Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome.

    PubMed

    Galante, Micaela; Jani, Harsha; Vanes, Lesley; Daniel, Hervé; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Bliss, Timothy V P; Morice, Elise

    2009-04-15

    Down syndrome (DS) is a genetic disorder arising from the presence of a third copy of human chromosome 21 (Hsa21). Recently, O'Doherty et al. [An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309 (2005) 2033-2037] generated a trans-species aneuploid mouse line (Tc1) that carries an almost complete Hsa21. The Tc1 mouse is the most complete animal model for DS currently available. Tc1 mice show many features that relate to human DS, including alterations in memory, synaptic plasticity, cerebellar neuronal number, heart development and mandible size. Because motor deficits are one of the most frequently occurring features of DS, we have undertaken a detailed analysis of motor behaviour in cerebellum-dependent learning tasks that require high motor coordination and balance. In addition, basic electrophysiological properties of cerebellar circuitry and synaptic plasticity have been investigated. Our results reveal that, compared with controls, Tc1 mice exhibit a higher spontaneous locomotor activity, a reduced ability to habituate to their environments, a different gait and major deficits on several measures of motor coordination and balance in the rota rod and static rod tests. Moreover, cerebellar long-term depression is essentially normal in Tc1 mice, with only a slight difference in time course. Our observations provide further evidence that support the validity of the Tc1 mouse as a model for DS, which will help us to provide insights into the causal factors responsible for motor deficits observed in persons with DS.

  13. Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome.

    PubMed

    Lodish, Maya; Patronas, Nicholas J; Stratakis, Constantine A

    2010-01-01

    We report a 6-year-old girl with ACTH-independent Cushing syndrome secondary to bilateral adrenal hyperplasia; she presented with hypertension and seizures, and magnetic resonance imaging shows changes consistent with posterior reversible encephalopathy syndrome.

  14. Reversible cerebral vasoconstriction syndrome 3 months after blood transfusion.

    PubMed

    Braun, Charles N; Hughes, Richard L; Bosque, Patrick J

    2012-11-01

    Reversible cerebral vasoconstriction syndrome is characterized by the prolonged but reversible constriction of cerebral arteries accompanied by a sudden onset of severe headache, and is sometimes complicated by subarachnoid hemorrhage or cerebral infarction. It is associated with various clinical conditions and treatments, although the precise pathophysiology is not understood. In particular, several cases of this syndrome have been described to occur in middle-aged women within 1 week of a blood transfusion. We encountered a patient with a reversible cerebral vasoconstriction syndrome who became symptomatic 3 months after a blood transfusion. No other cause for the syndrome was found. This case suggests that the risk for the reversible cerebral vasoconstriction may persist for months after blood transfusion. Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  15. Autonomic dysfunction in reversible cerebral vasoconstriction syndromes

    PubMed Central

    2013-01-01

    Background Autonomic imbalance may play an important role in the pathogenesis of reversible cerebral vasoconstriction syndromes (RCVS). This study aimed to assess the autonomic function by analyzing heart rate variability (HRV) in patients with RCVS. Methods Patients with RCVS and age- and gender-matched controls were consecutively recruited. All patients (both ictal and remission stage) and controls underwent 24-hour ambulatory electrocardiographic (ECG) recordings. HRV measures covering time and frequency domains were used to assess autonomic functioning. Results Thirty-nine patients with RCVS and 39 controls completed the study. Compared to the controls, RCVS patients during the ictal stage showed reductions in parasympathetic-related indices, including the root mean square of difference of consecutive interbeat intervals (RMSSD) (22.1 ± 7.0 vs. 35.2 ± 14.2, p < 0.001), the percentage of adjacent intervals that varied by more than 50 ms (pNN50) (3.7 ± 3.4 vs. 10.6 ± 8.1, p < 0.001), and high-frequency power (HF) (5.82 ± 0.73 vs. 6.77 ± 0.74; p < 0.001), and increased low-frequency/high-frequency (LF/HF) ratio (index of sympathovagal balance) (3.38 ± 1.32 vs. 2.48 ± 1.07; p =0.001). These HRV indices improved partially but remained significantly different from controls during remission. Conclusions Decreased parasympathetic modulations and accentuated sympathetic activity might be a biological trait in patients with RCVS. PMID:24274860

  16. Reversal of deafness after renal transplantation in Alport's syndrome.

    PubMed

    McDonald, T J; Zincke, H; Anderson, C F; Ott, N T

    1978-01-01

    Six patients (five men and one woman) with Alport's syndrome underwent successful renal transplantation (four received kidneys from cadaver donors and two received allografts from living, related donors). One patient who had received a cadaver kidney had substantial hearing improvement and the others had stabilization of hearing. Hearing loss in Alport's syndrome is progressive. The reversal of deafness in one of our patients and stabilization in the others made us wonder whether an inherited enzymopathy had been reversed, which then mitigated the deafness.

  17. Assessment of Noninvasive Regional Brain Oximetry in Posterior Reversible Encephalopathy Syndrome and Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Chung, David Y; Claassen, Jan; Agarwal, Sachin; Schmidt, J Michael; Mayer, Stephan A

    2016-07-01

    Posterior reversible encephalopathy syndrome (PRES) leads to small- and large-vessel circulatory dysfunction. While aggressive lowering of elevated blood pressure is the usual treatment for PRES, excessive blood pressure reduction may lead to ischemia or infarction, particularly when PRES is accompanied by reversible cerebral vasoconstriction syndrome (RCVS). Regional cerebral oximetry using near-infrared spectroscopy is a noninvasive modality that is commonly used intraoperatively and in intensive care settings to monitor regional cerebral oxygenation (rSO2) and may be useful in guiding treatment in select cases of PRES and RCVS. We report a case of a patient with PRES complicated by infarction and RCVS where the optimal blood pressure management was unclear. A decision was made to decrease blood pressure which resulted in an improved neurological examination and increase in rSO2 from 40% to 55% in at-risk brain. Infarcted brain as determined by diffusion-weighted magnetic resonance imaging and computed tomography perfusion imaging showed no change in rSO2 during the same time period. Furthermore, there was a qualitative change in the rSO2-mean arterial pressure (MAP) relationship, suggesting an alteration in cerebrovascular autoregulation as a result of lowering blood pressure. Regional cerebral oximetry can provide valuable diagnostic feedback in complicated cases of PRES and RCVS. © The Author(s) 2016.

  18. Cerebellar Ataxia.

    PubMed

    Perlman

    2000-05-01

    There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and

  19. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

    PubMed

    Akazawa, Yohei; Inaba, Yuji; Hachiya, Akira; Motoki, Noriko; Matsuzaki, Satoshi; Minatoya, Kenji; Morisaki, Takayuki; Morisaki, Hiroko; Kosaki, Kenjiro; Kosho, Tomoki; Koike, Kenichi

    2015-10-01

    Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular complications (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations. We here report the first patient with LDS presenting with reversible cerebral vasoconstriction syndrome (RCVS), a clinico-radiological condition characterized by recurrent thunderclap headaches, with or without neurological symptoms, and reversible vasoconstriction of cerebral arteries. The patient was a 9-year-old boy with a heterozygous TGFBR2 mutation, manifesting camptodactyly, talipes equinovarus, and lamboid craniosynostosis. He complained of severe recurrent headaches 2 months after total aortic replacement for aortic root dilatation and a massive Stanford type B aortic dissection. A thoracic CT scan revealed a left subclavian artery dissection. Brain MRI and MRA detected bilateral internal carotid artery constriction along with a cortical subarachnoid hemorrhage without intracranial aneurysms. Subsequently, he developed visual disturbance and a generalized seizure associated with multiple legions of cortical and subcortical increased signals including the left posterior lobe, consistent with posterior reversible encephalopathy syndrome (PRES), a condition characterized by headaches, visual disorders, seizures, altered mentation, consciousness disturbances, focal neurological signs, and vasogenic edema predominantly in the white matter of the posterior lobe. Vasoconstriction of the internal carotid artery was undetectable 2 months later, and he was diagnosed as having RCVS. Endothelial dysfunction, associated with impaired TGF-β signaling, might have been attributable to the development of RCVS and PRES. © 2015 Wiley Periodicals, Inc.

  20. Neurocognitive outcome 12 months following cerebellar mutism syndrome in pediatric patients with medulloblastoma

    PubMed Central

    Palmer, Shawna L.; Hassall, Tim; Evankovich, Karen; Mabbott, Donald J.; Bonner, Melanie; Deluca, Cinzia; Cohn, Richard; Fisher, Michael J.; Morris, E. Brannon; Broniscer, Alberto; Gajjar, Amar

    2010-01-01

    The aim is to prospectively assess early neurocognitive outcome of children who developed cerebellar mutism syndrome (CMS) following surgical resection of a posterior fossa embryonal tumor, compared with carefully matched control patients. Children who were enrolled on an ongoing IRB-approved protocol for treatment of embryonal tumors, were diagnosed with postoperative CMS, and had completed prospectively planned neuropsychological evaluation at 12 months postdiagnosis were considered eligible. The cognitive outcomes of these patients were examined in comparison to patients without CMS from the same treatment protocol and matched with regard to primary diagnosis, age at diagnosis, and risk/corresponding treatment (n = 22 pairs). Seventeen were also matched according to gender, and 14 were also matched according to race. High-risk patients received 36–39.6 Gy CSI and 3D conformal boost to the primary site to 55.8–59.4 Gy. Average-risk patients received 23.4 Gy CSI and 3D conformal boost to the primary site to 55.8 Gy. Significant group differences were found on multiple cognitive outcomes. While the matched control patients exhibited performance in the average range, patients who developed CMS postsurgery were found to have significantly lower performance in processing speed, attention, working memory, executive processes, cognitive efficiency, reading, spelling, and math. Patients treated for medulloblastoma who experience postoperative CMS show an increased risk for neurocognitive impairment, evident as early as 12 months following diagnosis. This study highlights the need for careful follow-up with neuropsychological evaluation and for obtaining critical support for patients and their families. PMID:20713408

  1. Widespread cerebellar transcriptome changes in Ts65Dn Down syndrome mouse model after lifelong running.

    PubMed

    Walus, Marius; Kida, Elizabeth; Rabe, Ausma; Albertini, Giorgio; Golabek, Adam A

    2016-01-01

    Our previous study showed an improvement in locomotor deficits after voluntary lifelong running in Ts65Dn mice, an animal model for Down syndrome (DS). In the present study, we employed mouse microarrays printed with 55,681 probes in an attempt to identify molecular changes in the cerebellar transcriptome that might contribute to the observed behavioral benefits of voluntary long-term running in Ts65Dn mice. Euploid mice were processed in parallel for comparative purposes in some analyses. We found that running significantly changed the expression of 4,315 genes in the cerebellum of Ts65Dn mice, over five times more than in euploid animals, up-regulating 1,991 and down-regulating 2,324 genes. Functional analysis of these genes revealed a significant enrichment of 92 terms in the biological process category, including regulation of biosynthesis and metabolism, protein modification, phosphate metabolism, synaptic transmission, development, regulation of cell death/apoptosis, protein transport, development, neurogenesis and neuron differentiation. The KEGG pathway database identified 18 pathways that are up-regulated and two that are down-regulated by running that were associated with learning, memory, cell signaling, proteolysis, regeneration, cell cycle, proliferation, growth, migration, and survival. Of six mRNA protein products we tested by immunoblotting, four showed significant running-associated changes in their levels, the most prominent in glutaminergic receptor metabotropic 1, and two showed changes that were close to significant. Thus, unexpectedly, our data point to the high molecular plasticity of Ts65Dn mouse cerebellum, which translated into humans with DS, suggests that the motor deficits of individuals with DS could markedly benefit from prolonged exercise.

  2. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

    PubMed Central

    Schmidt, Wolfgang M.; Rutledge, S. Lane; Schüle, Rebecca; Mayerhofer, Benjamin; Züchner, Stephan; Boltshauser, Eugen; Bittner, Reginald E.

    2015-01-01

    Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by involvement of other organ systems. The molecular underpinnings for many of these diseases are widely unknown. Previously, we discovered the disruption of Scyl1 as the molecular basis of the mouse mutant mdf, which is affected by neurogenic muscular atrophy, progressive gait ataxia with tremor, cerebellar vermis atrophy, and optic-nerve thinning. Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of acute liver failure in early infancy and are affected by cerebellar vermis atrophy, ataxia, and peripheral neuropathy. By whole-exome sequencing, compound-heterozygous mutations within SCYL1 were identified in all affected individuals. We further show that in SCYL1-deficient human fibroblasts, the Golgi apparatus is massively enlarged, which is in line with the concept that SCYL1 regulates Golgi integrity. Thus, our findings define SCYL1 mutations as the genetic cause of a human hepatocerebellar neuropathy syndrome. PMID:26581903

  3. Reversible cerebral vasoconstriction syndrome presenting as subarachnoid hemorrhage, reversible posterior leukoencephalopathy, and cerebral infarction.

    PubMed

    Noda, Kazuyuki; Fukae, Jiro; Fujishima, Kenji; Mori, Kentaro; Urabe, Takao; Hattori, Nobutaka; Okuma, Yasuyuki

    2011-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute severe headache with or without additional neurological symptoms and reversible cerebral vasoconstriction. Unruptured aneurysm has been reported in some cases with RCVS. We report a severe case of a 53-year-old woman with RCVS having an unruptured cerebral aneurysm and presenting as cortical subarachnoid hemorrhage, reversible posterior leukoencephalopathy syndrome, and cerebral infarction. She was successfully treated with corticosteroids and a calcium channel blocker and the aneurysm was clipped. Her various complications are due to the responsible vasoconstriction that started distally and progressed towards proximal arteries. This case demonstrates the spectrum of presentations of RCVS, a clinically complicated condition.

  4. Evidence for "Uner Tan Syndrome" as a human model for reverse evolution.

    PubMed

    Tan, Uner

    2006-12-01

    "Uner Tan Syndrome" was further studied in a second family. There was no cerebellar atrophy, except a mild vermial atrophy in MRI scans of the affected individuals. This is not, however, the pathogenesis of the "Uner Tan Syndrome", since in the first and second families there were bipedal men exhibiting very similar MRI scans. The second family may also be considered a live model for reverse evolution in human beings. The present work provided evidence for a reverse evolution: (i) quadrupedality; (ii) primitive mental abilities including language; (iii) curved fingers during wrist-walking of the quadrupedal woman; (iv) arm to leg ratios being close to those of the human-like apes. The quadrupedal individuals were raised in separate places, so that they could not imitate each other, excluding the socio-cultural factors contributing to the habitual quadrupedal gait. The results are consistent with the single gene theory, suggesting a single gene controlling multiple behavioral traits, and the psychomotor theory, and a co-evolution of the human mind, an emergent property of the motor system expressed by human language.

  5. Reversible cerebral vasoconstriction syndrome with concurrent bilateral carotid artery dissection.

    PubMed

    Bayer-Karpinska, Anna; Patzig, Maximilian; Adamczyk, Christopher; Dimitriadis, Konstantinos; Wollenweber, Frank A; Dichgans, Martin; Jahn, Klaus; Opherk, Christian

    2013-05-01

    The pathophysiological basis of reversible cerebral vasoconstriction syndrome is poorly understood but carotid artery dissection has been discussed as a rare possible cause. So far, only single cases of unilateral carotid artery dissection and reversible cerebral vasoconstriction syndrome have been reported. Here, we describe the case of a 54-year old patient presenting to the emergency department with right hemiparesis, hypaesthesia and dysarthria. Furthermore, he reported two episodes of thunderclap headache after autosexual activity. Cerebral imaging showed ischaemic infarcts, slight cortical subarachnoid haemorrhage, bilateral carotid artery dissection and fluctuating intracranial vessel irregularities, compatible with reversible cerebral vasoconstriction syndrome. An extensive diagnostic work-up was normal. No typical trigger factors of reversible cerebral vasoconstriction syndrome could be found. The patient received intravenous heparin and the calcium channel blocker nimodipine. Follow-up imaging revealed no vessel irregularities, the left internal carotid artery was still occluded. This case supports the assumption that carotid artery dissection should be considered as a potential trigger of reversible cerebral vasoconstriction syndrome, possibly by altering sympathetic vascular tone.

  6. Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome

    PubMed Central

    Galante, Micaela; Jani, Harsha; Vanes, Lesley; Daniel, Hervé; Fisher, Elizabeth M.C.; Tybulewicz, Victor L.J.; Bliss, Timothy V.P.; Morice, Elise

    2009-01-01

    Down syndrome (DS) is a genetic disorder arising from the presence of a third copy of human chromosome 21 (Hsa21). Recently, O'Doherty et al. [An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309 (2005) 2033–2037] generated a trans-species aneuploid mouse line (Tc1) that carries an almost complete Hsa21. The Tc1 mouse is the most complete animal model for DS currently available. Tc1 mice show many features that relate to human DS, including alterations in memory, synaptic plasticity, cerebellar neuronal number, heart development and mandible size. Because motor deficits are one of the most frequently occurring features of DS, we have undertaken a detailed analysis of motor behaviour in cerebellum-dependent learning tasks that require high motor coordination and balance. In addition, basic electrophysiological properties of cerebellar circuitry and synaptic plasticity have been investigated. Our results reveal that, compared with controls, Tc1 mice exhibit a higher spontaneous locomotor activity, a reduced ability to habituate to their environments, a different gait and major deficits on several measures of motor coordination and balance in the rota rod and static rod tests. Moreover, cerebellar long-term depression is essentially normal in Tc1 mice, with only a slight difference in time course. Our observations provide further evidence that support the validity of the Tc1 mouse as a model for DS, which will help us to provide insights into the causal factors responsible for motor deficits observed in persons with DS. PMID:19181682

  7. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

    PubMed Central

    Hoveyda, N.; Shield, J.; Garrett, C.; Chong, W; Beardsall, K.; Bentsi-Enchill, E.; Mallya, H.; Thompson, M.

    1999-01-01

    Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.


Keywords: cerebellar agenesis/hypoplasia; neonatal diabetes mellitus; dysmorphic features; autosomal recessive PMID:10507728

  8. The Floccular Syndrome: Dynamic Changes in Eye Movements and Vestibulo-ocular Reflex in Isolated Infarction of the Cerebellar Flocculus.

    PubMed

    Yacovino, Dario Andres; Akly, Manuel Perez; Luis, Leonel; Zee, David S

    2017-08-26

    The cerebellar flocculus is a critical structure involved in the control of eye movements. Both static and dynamic abnormalities of the vestibulo-ocular reflex (VOR) have been described in animals with experimental lesions of the flocculus/paraflocculus complex. In humans, lesions restricted to the flocculus are rare so they can become an exceptional model to contrast with the clinical features in experimental animals or in patients with more generalized cerebellar diseases. Here, we examined a 67-year-old patient with an acute vestibular syndrome due to an isolated infarct of the right flocculus. We evaluated him multiple times over 6 months-to follow the changes in eye movements and vestibular function-with caloric testing, video-oculography and head-impulse testing, and the anatomical changes on imaging. Acutely, he had an ipsilateral-beating spontaneous nystagmus, bilateral gaze-evoked nystagmus, borderline impaired smooth pursuit, and a complete contraversive ocular tilt reaction. The VOR gain was reduced for head impulses directed contralateral to the lesion, and there was also an ipsilesional caloric weakness. All abnormalities progressively improved at follow-up visits but with a considerable reduction in volume of the affected flocculus on imaging. The vestibular and ocular motor findings, qualitatively similar to a previously reported patient, further clarify the "acute floccular syndrome" in humans. We also add new information about the pattern of recovery from such a lesion with corresponding changes in the size of the affected flocculus on imaging.

  9. LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders.

    PubMed

    Soós, Zsuzsanna; Salamon, Mónika; Erdei, Katalin; Kaszás, Nóra; Folyovich, András; Szücs, Anna; Barcs, Gábor; Arányi, Zsuzsanna; Skaliczkis, József; Vadasdi, Károly; Winkler, Gábor

    2014-05-30

    Celiac disease--in its typical form--is a chronic immune-mediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.

  10. Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome.

    PubMed

    Mouton-Liger, François; Sahún, Ignasi; Collin, Thibault; Lopes Pereira, Patricia; Masini, Debora; Thomas, Sophie; Paly, Evelyne; Luilier, Sabrina; Même, Sandra; Jouhault, Quentin; Bennaï, Soumia; Beloeil, Jean-Claude; Bizot, Jean-Charles; Hérault, Yann; Dierssen, Mara; Créau, Nicole

    2014-03-01

    PCP4/PEP19 is a modulator of Ca(2+)-CaM signaling. In the brain, it is expressed in a very specific pattern in postmitotic neurons. In particular, Pcp4 is highly expressed in the Purkinje cell, the sole output neuron of the cerebellum. PCP4, located on human chromosome 21, is present in three copies in individuals with Down syndrome (DS). In a previous study using a transgenic mouse model (TgPCP4) to evaluate the consequences of 3 copies of this gene, we found that PCP4 overexpression induces precocious neuronal differentiation during mouse embryogenesis. Here, we report combined analyses of the cerebellum at postnatal stages (P14 and adult) in which we identified age-related molecular, electrophysiological, and behavioral alterations in the TgPCP4 mouse. While Pcp4 overexpression at P14 induces an earlier neuronal maturation, at adult stage it induces increase in cerebellar CaMK2alpha and in cerebellar LTD, as well as learning impairments. We therefore propose that PCP4 contributes significantly to the development of Down syndrome phenotypes through molecular and functional changes. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Ethanol impairs Rho GTPase signaling and differentiation of cerebellar granule neurons in a rodent model of fetal alcohol syndrome.

    PubMed

    Joshi, S; Guleria, R S; Pan, J; Bayless, K J; Davis, G E; Dipette, D; Singh, U S

    2006-12-01

    Developmental exposure to ethanol impairs fetal brain development and causes fetal alcohol syndrome. Although the cerebellum is one of the most alcohol-sensitive brain areas, signaling mechanisms underlying the deleterious effects of ethanol on developing cerebellar granule neurons (CGNs) are largely unknown. Here we describe the effects of in vivo ethanol exposure on neurite formation in CGNs and on the activation of Rho GTPases (RhoA and Rac1), regulators of neurite formation. Exposure of 7-day-old rat pups to ethanol for 3 h moderately increased blood alcohol concentration (BAC) ( approximately 40 mM) and inhibited neurite formation and Rac1 activation in CGNs. Longer exposure to ethanol for 5 h resulted in higher BAC ( approximately 80 mM), induced apoptosis, inhibited Rac1, and activated RhoA. Studies demonstrated a regulatory role of Rho GTPases in differentiation of cerebellar neurons, and indicated that ethanol-associated impairment of Rho GTPase signaling might contribute to brain defects observed in fetal alcohol syndrome.

  12. Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

    PubMed

    Shimbo, Hiroko; Yokoi, Takayuki; Aida, Noriko; Mizuno, Seiji; Suzumura, Hiroshi; Nagai, Junichi; Ida, Kazumi; Enomoto, Yumi; Hatano, Chihiro; Kurosawa, Kenji

    2017-07-01

    Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH). Clinical characteristics and brain magnetic resonance imaging features of these patients were also reviewed. We identified four patients with ID, neurodevelopmental delay, brain malformations, and dysmorphic features; two patients with 2p15p16.1 deletions (3.24 Mb, 5.04 Mb), one patient with 2p16.1 deletion (1.12 Mb), and one patient with 2p14p16.1 deletion (5.12 Mb). Three patients with 2p15p16.1 deletions or 2p16.1 deletions encompassing BCL11A,PAPOLG, and REL showed hypoplasia of the pons and cerebellum. The patient with 2p14p16.1 deletion, which did not include three genes showed normal size and shape of the cerebellar hemispheres and pons. The zinc finger transcription factor BCL11A associated with the BAF chromatin remodeling complex has been identified to be critical for neural development and BCL11A haploinsufficiency is closely related to cerebellar abnormalities.

  13. Persistent cerebellar dysfunction following acute lithium toxicity: A report of two cases.

    PubMed

    Banwari, Girish; Chaudhary, Pradhyuman; Panchmatia, Ankit; Patel, Nisheet

    2016-01-01

    Neurological disturbances caused by lithium range from simple side effects such as benign tremor to acute reversible neurotoxicity. Rarely, lithium is reported to cause irreversible, permanent neurological sequelae most commonly manifested as cerebellar dysfunction, although other presentations have also been described. We report two cases of persistent cerebellar syndrome following acute lithium toxicity and discuss them in the light of existing literature on the subject.

  14. Cerebellar mutism syndrome in children with brain tumours of the posterior fossa.

    PubMed

    Wibroe, Morten; Cappelen, Johan; Castor, Charlotte; Clausen, Niels; Grillner, Pernilla; Gudrunardottir, Thora; Gupta, Ramneek; Gustavsson, Bengt; Heyman, Mats; Holm, Stefan; Karppinen, Atte; Klausen, Camilla; Lönnqvist, Tuula; Mathiasen, René; Nilsson, Pelle; Nysom, Karsten; Persson, Karin; Rask, Olof; Schmiegelow, Kjeld; Sehested, Astrid; Thomassen, Harald; Tonning-Olsson, Ingrid; Zetterqvist, Barbara; Juhler, Marianne

    2017-06-21

    Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined. This observational, prospective, multicentre study will include 500 children with posterior fossa tumours. It opened late 2014 with participation from 20 Nordic and Baltic centres. From 2016, five British centres and four Dutch centres will join with a total annual accrual of 130 patients. Three other major European centres are invited to join from 2016/17. Follow-up will run for 12 months after inclusion of the last patient. All patients are treated according to local practice. Clinical data are collected through standardized online registration at pre-determined time points pre- and postoperatively. Neurological status and speech functions are examined pre-operatively and postoperatively at 1-4 weeks, 2 and 12 months. Pre- and postoperative speech samples are recorded and analysed. Imaging will be reviewed centrally. Pathology is classified according to the 2007 WHO system. Germline DNA will be collected from all patients for associations between CMS characteristics and host genome variants including pathway profiles. Through prospective and detailed collection of information on 1) differences in incidence and clinical course of CMS for different patient and tumour characteristics, 2) standardized surgical data and their association with CMS, 3) diversities and results of other therapeutic interventions

  15. Ischaemic strokes with reversible vasoconstriction and without thunderclap headache: a variant of the reversible cerebral vasoconstriction syndrome?

    PubMed

    Wolff, Valérie; Armspach, Jean-Paul; Lauer, Valérie; Rouyer, Olivier; Ducros, Anne; Marescaux, Christian; Gény, Bernard

    2015-01-01

    Reversible vasoconstriction (RV) may cause ischaemic stroke (IS) in the absence of any other defined stroke aetiology. The three objectives of our study were to evaluate the frequency of RV in a prospective series of young IS patients, to describe the detailed clinical-radiological features in the patients with RV and IS, and to compare these characteristics with those of reversible cerebral vasoconstriction syndrome (RCVS). We identified between October 2005 and December 2010, 159 consecutive young patients (<45 years) hospitalized for an acute IS confirmed by cerebral magnetic resonance imaging. An extensive diagnostic work-up was performed including toxicological urinary screening for cannabis, cocaine and amphetamines, and the usual biological, cardiac and vascular investigations for an IS in the young. We specifically studied patients with IS and RV, which was defined as multifocal intracranial arterial stenoses confirmed by intracranial arterial imaging that resolved within 3-6 months. Out of 159 patients with IS, 21 (13%, 12 males, 9 females; mean age 32 years) had multifocal cerebral arterial stenoses that were fully reversible at 3-6 months, and no other cause for stroke. IS were located on posterior territory in 71% of cases, and vasoconstriction predominated on posterior cerebral and superior cerebellar arteries. Precipitating factors of IS and RV were the use of cannabis resin (n = 14), nasal decongestants (n = 2) and triptan (n = 1). Most cases (74%) had unusual severe headache, but none had thunderclap headache. None of 21 cases had reversible posterior leukoencephalopathy, cortical subarachnoid or intracerebral haemorrhage. RV was the sole identified cause of IS in 13% of our cohort. These young patients with IS and RV may have a variant of RCVS, related to an increased susceptibility to vasoactive agents in some individuals. RV in our patients differs from the classical characteristics of RCVS by the absence of thunderclap headache, reversible brain

  16. Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

    PubMed

    Zhao, Bi; Wei, QianQian; Wang, YunHan; Chen, YongPing; Shang, HuiFang

    2014-09-01

    Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. We report a child with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome. A 9-year-old girl underwent an appendectomy after developing abdominal pain. She subsequently developed bilateral visual disturbance, confusion, seizures, hypertension, tachycardia, nausea, vomiting, constipation, dark tea-colored urine, and recurrent abdominal pain. Initial brain magnetic resonance imaging revealed hyperintense gyriform lesions on T2-weighted images and hypointense to isointense lesions on T1-weighted images in both parieto-occipital lobes with mild enhancement. The diagnosis of acute intermittent porphyria was confirmed by increased urinary excretion of porphyrin precursors. Her clinical signs gradually improved after intravenous high-dose glucose treatment and symptomatic therapies. A repeat magnetic resonance imaging confirmed complete resolution of the parieto-occipital lesions, suggesting with posterior reversible encephalopathy syndrome. The association of abdominal pain, mental status changes, and autonomic dysfunction should arouse the suspicion of acute intermittent porphyria. Acute intermittent porphyria can be associated with posterior reversible encephalopathy syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Brainstem variant of posterior reversible encephalopathy syndrome: A case report

    PubMed Central

    Caranci, Ferdinando; Belfiore, Maria Paola; Manzi, Francesca; Pagliano, Pasquale; Cirillo, Sossio

    2015-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition, generally observed in conjunction with severe and acute hypertension, that involves mainly the posterior head areas (occipital and temporal lobes) and anterior “watershed” areas. In this syndrome it is rare to observe a predominant involvement of the brainstem. We describe the clinical and radiological findings in a patient with brainstem involvement, discussing its pathophysiological features and possible differential diagnosis. PMID:26515750

  18. Brainstem variant of posterior reversible encephalopathy syndrome: A case report.

    PubMed

    Tortora, Fabio; Caranci, Ferdinando; Belfiore, Maria Paola; Manzi, Francesca; Pagliano, Pasquale; Cirillo, Sossio

    2015-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition, generally observed in conjunction with severe and acute hypertension, that involves mainly the posterior head areas (occipital and temporal lobes) and anterior "watershed" areas. In this syndrome it is rare to observe a predominant involvement of the brainstem. We describe the clinical and radiological findings in a patient with brainstem involvement, discussing its pathophysiological features and possible differential diagnosis.

  19. Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies.

    PubMed

    Stasi, K; Mitsacos, A; Triarhou, L C; Kouvelas, E D

    1997-01-01

    We used quantitative autoradiography of [3H]CNQX (200 nM), [3H]muscimol (13 nM), and [3H]flunitrazepam (10 nM) binding to study the distribution of non-NMDA and GABA(A) receptors in the cerebellum of pcd mutant mice with unilateral cerebellar grafts. Nonspecific binding was determined by incubation with 1 mM Glu, 200 microM GABA, or 1 microM clonazepam, respectively. Saturation parameters were defined in wild-type and mutant cerebella. In mutants, non-NMDA receptors were reduced by 38% in the molecular layer and by 47% in the granule cell layer. The reduction of non-NMDA receptors in the pcd cerebellar cortex supports their localization on Purkinje cells. [3H]CNQX binding sites were visualized at higher density in grafts that had migrated to the cerebellar cortex of the hosts (4.1 and 11.0 pmol/mg protein, respectively, at 23 and 37 days after grafting) than in grafts arrested intraparenchymally (2.6 and 6.2 pmol/mg protein, respectively, at 23 and 37 days after grafting). The pattern of expression of non-NMDA receptors in cortical vs. parenchymal grafts suggests a possible regulation of their levels by transacting elements from host parallel fibers. GABA(A) binding levels in the grafts for both ligands used were similar to normal molecular layer. Binding was increased in the deep cerebellar nuclei of pcd mutants: the increase in [3H]muscimol binding over normal was 215% and the increase in [3H]flunitrazepam binding was 89%. Such increases in the pcd deep cerebellar nuclei may reflect a denervation-induced supersensitivity subsequent to the loss of Purkinje axon terminal innervation. In the deep nuclei of pcd mutants with unilateral cerebellar grafts, [3H]muscimol binding was 31% lower in the grafted side than in the contralateral nongrafted side at 37 days after transplantation; [3H]flunitrazepam binding was also lower in the grafted side by 15% compared to the nongrafted side. Such changes in GABA(A) receptors suggest a significant, albeit partial, normalizing

  20. Reversible Cerebral Vasoconstriction Syndrome: A Report on Three Cases.

    PubMed

    Roongpiboonsopit, Duangnapa; Kongbunkiat, Kannikar; Phanthumchinda, Kammant

    2016-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome, is defined as an intermittent segmental vasospasm of cerebral arteries accompanied by thunderclap headache. The major complications of RCVS include ischemic or hemorrhagic stroke, which may cause morbidity and mortality. It is important to detect RCVS in clinical practice because misdiagnosis may lead to inappropriate treatment. In Thailand, there are only two reported cases of RCVS, which may reflect an underdiagnosis of this syndrome. To raise awareness of RCVS, we reported a case series of three RCVS cases. Two of the presented cases had interesting precipitating factors, and two cases had an unusual delayed clinical course.

  1. Reverse mutations in the fragile X syndrome

    SciTech Connect

    Brown, W.T.; Houck, G.E. Jr.; Ding, Xiaohua

    1996-08-09

    Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMR1 repeat alleles. The changes in repeat sizes from mother to daughter was 95 to 35 in the first, 145 to 43 in the second, and 82 to 33 in the third. In the first family, mutations of the nearby microsatellites FRAXAC2 and DXS548 were also observed. In the other two, only mutations involving the FMR1 repeats were found. We suggest differing mutational mechanisms such as gene conversion versus DNA replication slippage may underlie such reversions. We estimate that such revertants may occur among 1% or less of premutation carrier offspring. Our results indicate that women identified to be carriers by linkage should be retested by direct DNA analysis. 35 refs., 5 figs.

  2. Clinical and methodological confounders in assessing the cerebellar cognitive affective syndrome in adult patients with posterior fossa tumours.

    PubMed

    Omar, Dashne; Ryan, Tracy; Carson, Alan; Bak, Thomas H; Torrens, Lorna; Whittle, Ian

    2014-12-01

    The cerebellar cognitive affective syndrome (CCAS) was first described by Schmahmann and Sherman as a constellation of symptoms including dysexecutive syndrome, spatial cognitive deficit, linguistic deficits and behavioural abnormalities in patients with a lesion in the cerebellum with otherwise normal brain. Neurosurgical patients with cerebellar tumours constitute one of the cohorts in which the CCAS has been described. In this paper, we present a critical review of the literature of this syndrome in neurosurgical patients. Thereafter, we present a prospective clinical study of 10 patients who underwent posterior fossa tumour resection and had a detailed post-operative neuropsychological, neuropsychiatric and neuroradiological assessment. Because our findings revealed a large number of perioperative neuroradiological confounding variables, we reviewed the neuroimaging of a further 20 patients to determine their prevalence. Our literature review revealed that study design, methodological quality and sometimes both diagnostic criteria and findings were inconsistent. The neuroimaging study (pre-operative, n = 10; post-operative, n = 10) showed very frequent neuroradiological confounding complications (e.g. hydrocephalus; brainstem compression; supratentorial lesions and post-operative subdural hygroma); the impact of such features had largely been ignored in the literature. Findings from our clinical study showed various degree of deficits in neuropsychological testing (n = 1, memory; n = 3, verbal fluency; n = 3, attention; n = 2, spatial cognition deficits; and n = 1, behavioural changes), but no patient had full-blown features of CCAS. Our study, although limited, finds no robust evidence of the CCAS following surgery. This and our literature review highlight a need for guidelines regarding study design and methodology when attempting to evaluate neurosurgical cases with regard to the potential CCAS.

  3. Age-related decline in the responsiveness of motor cortex to plastic forces reverses with levodopa or cerebellar stimulation.

    PubMed

    Kishore, Asha; Popa, Traian; James, Praveen; Yahia-Cherif, Lydia; Backer, Febina; Varughese Chacko, Lijo; Govind, Preetha; Pradeep, Salini; Meunier, Sabine

    2014-11-01

    The plasticity of motor cortex is integral for motor memory and skills acquisition but it declines with aging. Forty healthy volunteers, across 6 decades, were tested to examine the (a) age-dependency of motor cortex responsiveness to plasticity induction, as measured from the response to paired associative stimulation (PAS) and the (b) effect of aging on the cerebellar modulation of motor cortex response to PAS. We examined if reduced dopaminergic transmission was involved in the age-related decline of response to PAS by retesting 10 of the older subjects after a single dose of levodopa. There was a substantial decline in the motor cortex response to PAS with aging, which was restored by levodopa in the older subjects. The cerebellar modulation of motor cortex response to PAS was less vulnerable to aging and a single session of cerebellar inhibition reinstated the cortical responsiveness in older subjects. Both levodopa and cerebellar inhibition can be tested for their ability to enhance motor skills acquisition and motor performance in the elderly individuals.

  4. Posterior reversible encephalopathy syndrome in children with kidney disease.

    PubMed

    Gera, D N; Patil, S B; Iyer, A; Kute, V B; Gandhi, S; Kumar, D; Trivedi, H L

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. This case series included 11 patients (8 males, 3 females, age 3-15 years) of PRES during September 2010 to February 2012 out of a total 660 renal pediatric patients (1.66%). We studied their clinical profile, contributory factors, and outcome. Presenting symptoms were headache in 73%, dimness of vision or cortical blindness in 36%, seizures in 91%, and altered mentation in 55%. The associated renal diseases were acute renal failure (55%), chronic renal failure (9%), and 36% had normal renal function. The contributory factors were uncontrolled hypertension (100%), severe hypoproteinemia (9%), persistent hypocalcemia (9%), hemolytic uremic syndrome (36%), cyclosporine toxicity (9%), lupus nephritis (9%), high hematocrit (9%), and pulse methylprednisolone (9%). Brain imaging showed involvement of occipito-parietal area (100%) and other brain areas (63%). All but one patient of hemolytic uremic syndrome had complete clinical neurological recovery in a week, and all had normal neurological imaging after 4-5 weeks. PRES is an underdiagnosed entity in pediatric renal disease patients. Associated hypertension, renal disease, and immunosuppressive treatment are important triggers. Early diagnosis and treatment of comorbid conditions is of prime importance for early reversal of syndrome.

  5. Posterior reversible encephalopathy syndrome in children with kidney disease

    PubMed Central

    Gera, D. N.; Patil, S. B.; Iyer, A.; Kute, V. B.; Gandhi, S.; Kumar, D.; Trivedi, H. L.

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. This case series included 11 patients (8 males, 3 females, age 3-15 years) of PRES during September 2010 to February 2012 out of a total 660 renal pediatric patients (1.66%). We studied their clinical profile, contributory factors, and outcome. Presenting symptoms were headache in 73%, dimness of vision or cortical blindness in 36%, seizures in 91%, and altered mentation in 55%. The associated renal diseases were acute renal failure (55%), chronic renal failure (9%), and 36% had normal renal function. The contributory factors were uncontrolled hypertension (100%), severe hypoproteinemia (9%), persistent hypocalcemia (9%), hemolytic uremic syndrome (36%), cyclosporine toxicity (9%), lupus nephritis (9%), high hematocrit (9%), and pulse methylprednisolone (9%). Brain imaging showed involvement of occipito-parietal area (100%) and other brain areas (63%). All but one patient of hemolytic uremic syndrome had complete clinical neurological recovery in a week, and all had normal neurological imaging after 4-5 weeks. PRES is an underdiagnosed entity in pediatric renal disease patients. Associated hypertension, renal disease, and immunosuppressive treatment are important triggers. Early diagnosis and treatment of comorbid conditions is of prime importance for early reversal of syndrome. PMID:24574628

  6. Reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage.

    PubMed

    Kazato, Yuko; Fujii, Katsunori; Oba, Hiroshi; Hino, Moeko; Ochiai, Hidemasa; Uchikawa, Hideki; Kohno, Yoichi

    2012-09-01

    We described a 7-year-old girl with reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage. She initially presented with high fever and pancytopenia, leading to a diagnosis of most severe type aplastic anemia. We treated her with cyclosporine, methylprednisolone and anti-thymocyte globulin. Thereafter she recurrently complained of a very severe headache called as thunderclap, and finally exhibited loss of consciousness. Brain imaging revealed massive parenchymal hemorrhage between the left occipital and parietal lobes on computed tomography, and diffuse cerebral vasoconstriction on magnetic resonance angiography. The cerebral vasoconstriction resolved within two months, and thus we diagnosed her as having reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage. This syndrome has been frequently reported in adult females, but rarely in children. However, even in children, a so called thunderclap headache may become a clue for the diagnosis of reversible cerebral vasoconstriction syndrome, especially in cases taking immunosuppressive agents. Immediate magnetic resonance angiography is essential to diagnose this syndrome, and a prompt application of calcium channel inhibitors should be considered to resolve constriction of the vessels and to prevent subsequent brain damage. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Dyke-Davidoff-Masson Syndrome With Cerebral Hypometabolism and Unique Crossed Cerebellar Diaschisis in 18F-FDG PET/CT.

    PubMed

    Demir, Yusuf; Sürücü, Erdem; Çilingir, Vedat; Bulut, Mehmet Deniz; Tombul, Temel

    2015-09-01

    A 23-year-old man with Dyke-Davidoff-Masson syndrome (DDMS) was admitted to the hospital with increasing frequency of epileptic seizures. Physical examination revealed mental retardation, left facial asymmetry, and left-sided spastic hemiparesis. Dysdiadochokinesia on the left upper limb was detected, and there was no dysmetria. MRI confirmed the well-known radiological features of DDMS. PET/CT demonstrated cerebral and contralateral cerebellar hypometabolism. We present DDMS with crossed cerebellar diaschisis, which was demonstrated by PET/CT.

  8. Acute Cerebellar Syndrome in Infectious Mononucleosis: Documentation of Two Cases With Epstein-Barr Virus Infection

    PubMed Central

    Kramer, David S.; Smitnik, Loretta M.; John, Kuruvilla; Drake, Miles E.

    1985-01-01

    Acute cerebellar ataxia has been described occasionally with infectious mononucleosis. Two additional cases are reported with serologic identification of Epstein-Barr virus (EBV) infection in blood and cerebrospinal fluid. As with previously described cases, the outcome was benign, and examination and laboratory studies did not indicate diffuse neurologic involvement. Visual and brainstem auditory-evoked responses were normal. Electroencephalograms (EEG) demonstrated 14 and 6 per second positive spikes in both patients. This pattern is considered a normal variant and has been recorded from depth electrodes and reported with deep midline lesions. These cases support the prognosis of benign cerebellar involvement in infectious mononucleosis and suggest that evidence of EBV infection be sought in patients with acute ataxia. The significance of 14/sec and 6/sec positive EEG spikes is uncertain. PMID:2987517

  9. Reverse mutation in fragile X syndrome

    SciTech Connect

    Antinolo, G.; Borrego, S.; Cabeza, J.C.

    1996-01-01

    The fragile X syndrome is the most common cause of familial mental retardation, with an incidence of {approximately}1/1,500 in males and 1/2,500 in females. The clinical expression includes moderate to severe mental retardation, macroorchidism, dysmorphic facial features and behavior disturbances. In 1991, the FMR-1 gene was isolated from the region of the fragile X site. The fragile X phenotype has been found, in most cases, to be characterized at the molecular level by expansion of a (CGG){sub n} repeat and hypermethylation of a CpG island identified in the 5{prime}-UTR of the FMR-1 gene. It has been proposed, and some evidence has been shown, that germ cells carry only premutation alleles and that expansion occurs at a postzygotic stage. A few cases of reduction of the (CGG){sub n} repeat in fragile X syndrome have been reported. These reductions were from a larger premutation to a smaller premutation, in female-to-male transmission, from full mutation to a mosaic pattern, reduction from mosaic full-mutation/premutation females or regression from premutation to normal. We present here the novel observation of a phenotypically normal female carrying a nonmosaic full-mutation allele in somatic cells who transmits a premutation allele to her daughter. This daughter has three mosaic offspring with the full mutation and the premutation. Two of them are monozygotic (MZ) twins sharing a concordant mutation pattern. They are monoamniotic monochorionic, which indicates a late form of twinning. 20 refs., 1 fig.

  10. Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome.

    PubMed

    Braga-Neto, Pedro; Pedroso, José Luiz; Gadelha, Ary; Laureano, Maura Regina; de Souza Noto, Cristiano; Garrido, Griselda Jara; Barsottini, Orlando Graziani Povoas

    2016-08-01

    Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide with a broad range of clinical manifestations, but psychotic symptoms were not previously characterized. We investigated the psychiatric manifestations of a large cohort of Brazilian patients with MJD in an attempt to characterize the presence of psychotic symptoms. We evaluated 112 patients with clinical and molecular diagnosis of MJD from February 2008 to November 2013. Patients with psychotic symptoms were referred to psychiatric evaluation and brain perfusion single-photon emission computed tomography (SPECT) analysis. A specific scale-Positive and Negative Syndrome Scale (PANSS)-was used to characterize psychotic symptoms in MJD patients. We also performed an autopsy from one of the patients with MJD and psychotic symptoms. Five patients presented psychotic symptoms. Patients with psychotic symptoms were older and had a late onset of the disease (p < 0.05). SPECT results showed that MJD patients had significant regional cerebral blood flow (rCBF) decrease in the cerebellum bilaterally and vermis compared with healthy subjects. No significant rCBF differences were found in patients without psychotic symptoms compared to patients with psychotic symptoms. The pathological description of a patient with MJD and psychotic symptoms revealed severe loss of neuron bodies in the dentate nucleus and substantia nigra. MJD patients with a late onset of the disease and older ones are at risk to develop psychotic symptoms during the disease progression. These clinical findings may be markers for an underlying cortical-cerebellar disconnection or degeneration of specific cortical and subcortical regions that may characterize the cerebellar cognitive affective syndrome.

  11. Targeted estrogen delivery reverses the metabolic syndrome

    PubMed Central

    Finan, Brian; Yang, Bin; Ottaway, Nickki; Stemmer, Kerstin; Müller, Timo D; Yi, Chun-Xia; Habegger, Kirk; Schriever, Sonja C; García-Cáceres, Cristina; Kabra, Dhiraj G; Hembree, Jazzminn; Holland, Jenna; Raver, Christine; Seeley, Randy J; Hans, Wolfgang; Irmler, Martin; Beckers, Johannes; de Angelis, Martin Hrabě; Tiano, Joseph P; Mauvais-Jarvis, Franck; Perez-Tilve, Diego; Pfluger, Paul; Zhang, Lianshan; Gelfanov, Vasily; DiMarchi, Richard D; Tschöp, Matthias H

    2013-01-01

    We report the development of a new combinatorial approach that allows for peptide-mediated selective tissue targeting of nuclear hormone pharmacology while eliminating adverse effects in other tissues. Specifically, we report the development of a glucagon-like peptide-1 (GLP-1)-estrogen conjugate that has superior sex-independent efficacy over either of the individual hormones alone to correct obesity, hyperglycemia and dyslipidemia in mice. The therapeutic benefits are driven by pleiotropic dual hormone action to improve energy, glucose and lipid metabolism, as shown by loss-of-function models and genetic action profiling. Notably, the peptide-based targeting strategy also prevents hallmark side effects of estrogen in male and female mice, such as reproductive endocrine toxicity and oncogenicity. Collectively, selective activation of estrogen receptors in GLP-1–targeted tissues produces unprecedented efficacy to enhance the metabolic benefits of GLP-1 agonism. This example of targeting the metabolic syndrome represents the discovery of a new class of therapeutics that enables synergistic co-agonism through peptide-based selective delivery of small molecules. Although our observations with the GLP-1–estrogen conjugate justify translational studies for diabetes and obesity, the multitude of other possible combinations of peptides and small molecules may offer equal promise for other diseases. PMID:23142820

  12. 4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6

    PubMed Central

    Jayabal, Sriram; Chang, Hui Ho Vanessa; Cullen, Kathleen E.; Watt, Alanna J.

    2016-01-01

    Spinocerebellar ataxia type 6 (SCA6) is a devastating midlife-onset autosomal dominant motor control disease with no known treatment. Using a hyper-expanded polyglutamine (84Q) knock-in mouse, we found that cerebellar Purkinje cell firing precision was degraded in heterozygous (SCA684Q/+) mice at 19 months when motor deficits are observed. Similar alterations in firing precision and motor control were observed at disease onset at 7 months in homozygous (SCA684Q/84Q) mice, as well as a reduction in firing rate. We further found that chronic administration of the FDA-approved drug 4-aminopyridine (4-AP), which targets potassium channels, alleviated motor coordination deficits and restored cerebellar Purkinje cell firing precision to wildtype (WT) levels in SCA684Q/84Q mice both in acute slices and in vivo. These results provide a novel therapeutic approach for treating ataxic symptoms associated with SCA6. PMID:27381005

  13. Management of Posterior Reversible Syndrome in Preeclamptic Women

    PubMed Central

    Poma, S.; Delmonte, M. P.; Gigliuto, C.; Imberti, R.; Delmonte, M.; Arossa, A.; Iotti, G. A.

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological syndrome associated with a number of conditions including preeclampsia. It is characterized by seizures, alteration of consciousness, visual disturbances, and symmetric white matter abnormalities, typically in the posterior parietooccipital regions of the cerebral hemispheres, at computed tomography (CT) and magnetic resonance (MRI). We report three new cases of PRES in preeclamptic patients and describe the management of these patients. We present a brief review of other cases in the literature, with particular attention to the anesthetic management. PMID:25506009

  14. A Pediatric Case of Reversible Cerebral Vasoconstriction Syndrome With Similar Radiographic Findings to Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Kamide, Tomoya; Tsutsui, Taishi; Misaki, Kouichi; Sano, Hiroki; Mohri, Masanao; Uchiyama, Naoyuki; Nakada, Mitsutoshi

    2017-06-01

    Reversible cerebral vasoconstriction syndrome occurs predominantly in middle-aged women. Only nine pediatric patients with this syndrome have been reported. We present a ten-year-old boy with reversible cerebral vasoconstriction syndrome with radiographic findings similar to those of posterior reversible encephalopathy syndrome (PRES). He presented with a thunderclap headache without a neurological deficit. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) with diffusion-weighted imaging and fluid-attenuated inversion recovery demonstrated hyperintense lesions in the occipital lobes and the left cerebellum. The patient's symptoms resolved spontaneously after a few hours with no recurrence. MRA on the second day showed a complete normalization of the affected arteries, and MRI after one month demonstrated improvement in the abnormal findings, leading to a diagnosis of RCVS with radiographic findings similar to those of PRES. This child's findings suggests that, RCVS, with or without PRES, may occur in children who present with a thunderclap headache. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Gocmen, Rahsan; Ardicli, Didem; Erarslan, Yasin; Duzova, Ali; Anlar, Banu

    2017-04-01

    The posterior reversible encephalopathy syndrome (PRES) is a well-known clinical and radiologic entity mainly affecting the territory of the posterior cerebral circulation. Spinal cord involvement is extremely rare, and as of yet, only a few cases have been reported in the literature. The present case describes a reversible, longitudinal spinal cord lesion in a patient with high blood pressure. We discuss the differential diagnosis of longitudinal myelopathy and focus on the clinical presentation, diagnosis, and management of the "spinal cord variant of PRES." Georg Thieme Verlag KG Stuttgart · New York.

  16. Reversible electrocardiogram changes and cardiomyopathy secondary to baclofen withdrawal syndrome.

    PubMed

    Kireyev, Dmitriy; Poh, Kian-Keong

    2010-01-01

    Baclofen withdrawal syndrome is a rare and potentially life-threatening condition manifesting with autonomic dysreflexia, high fevers, spasticity, seizures, and multiorgan failure. Reversible cardiomyopathy due to this condition is extremely rare. A high level of suspicion is needed to recognize this condition and start an early intervention to improve patient outcome. Electrocardiographic ST-segment elevation in lead aVR was previously described in association with left main, left anterior descending, and triple-vessel coronary artery disease as well as Takotsubo cardiomyopathy. In this article we present a rare case of reversible cardiomyopathy due to baclofen withdrawal syndrome associated with diffuse ST-segment depressions and ST-segment elevation in lead aVR.

  17. Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation.

    PubMed

    Teive, H A; Brandi, I V; Camargo, C H; Bittencourt, M A; Bonfim, C M; Friedrich, M L; de Medeiros, C R; Werneck, L C; Pasquini, R

    2001-09-01

    Reversible posterior leucoencephalopathy syndrome (RPLS) has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA) after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA) who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity.

  18. Reversible cerebral vasoconstriction syndrome: rare or underrecognized in children?

    PubMed

    Probert, Rebecca; Saunders, Dawn E; Ganesan, Vijeya

    2013-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinicoradiological diagnosis comprising 'thunderclap' headaches and reversible segmental vasoconstriction of cerebral arteries, occasionally complicated by ischaemic or haemorrhagic stroke. We report a case of RCVS in a 13-year-old male with severe thunderclap headaches and no focal neurological signs. Brain imaging showed multiple posterior circulation infarcts; cerebral computed tomography, magnetic resonance imaging, and catheter angiography showed multifocal irregularity and narrowing, but in different arterial segments. Laboratory studies did not support a diagnosis of vasculitis. Symptoms resolved over 3 weeks; magnetic resonance angiography 3 months later was normal and remained so after 2 years. We highlight the typical clinical features of RCVS in this case and suggest that the diagnosis should be considered in children with thunderclap headaches or stroke syndromes where headache is a prominent feature, especially if cerebrovascular imaging studies appear to be evolving or discrepant. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  19. Reversible cerebral vasoconstriction in Guillain-Barré syndrome.

    PubMed

    Wei, Diana Y; Kao, Justin; Wu, Teddy Y; Pereira, Jennifer A; Anderson, Neil E; Alan Barber, P

    2015-07-01

    We present a 51-year-old woman with clinical and neurophysiological evidence of Guillain-Barré syndrome (GBS) who developed a generalised headache and autonomic dysfunction with sinus tachycardia, hypertension, gastrointestinal motility symptoms and urinary retention. MRI/MRA demonstrated cerebral vasoconstriction and a small convexity subarachnoid haemorrhage which resolved after 3 months. Reversible cerebral vasoconstriction syndrome (RCVS) is characterised by headache, focal neurological deficits or seizures, and reversible cerebral vasoconstriction. To our knowledge, this is the first reported case of RCVS complicating autonomic dysfunction in GBS. This case depicts a rare complication of a common condition and also sheds light on the potential mechanism of RCVS. Neurologists should be aware that autonomic dysfunction can lead to RCVS in GBS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Epinephrine-induced posterior reversible encephalopathy syndrome: a case report.

    PubMed

    Gharabawy, Ramez; Pothula, Vijayasimha R; Rubinshteyn, Vladimir; Silverberg, Michael; Gave, Asaf A

    2011-09-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare disorder that is usually associated with hypertensive crises. It is often missed but may be diagnosed by head computed tomographic (CT) scan or magnetic resonance imaging. An adolescent man presented for elective right shoulder arthroscopic bankart repair. Arthroscopy was performed using a solution of normal saline with 3.3 mg/L of epinephrine for irrigation. Postoperatively, the patient presented with hypertension and epileptiform activity. A CT scan of the head showed PRES.

  1. Posterior reversible encephalopathy syndrome in children: a case series

    PubMed Central

    Emeksiz, Serhat; Kutlu, Nurettin Onur; Çaksen, Hüseyin; Alkan, Gülsüm; Yıkmaz, Hülya Şeker; Tokgöz, Hüseyin

    2016-01-01

    Posterior reversible encephalopathy syndrome is characterized by hypertension, seizure, headache, clouding of consciousness, and visual disturbance, and is diagnosed in the presence of typical lesions on magnetic resonance imaging. We retrospectively evaluated five patients who were diagnosed as having posterior reversible encephalopathy syndrome and followed up in Meram Medical Faculty, Pediatric Intensive Care and Hematology wards, between January 2010 and January 2014. We reviewed the demographic and clinical data, and neuroimaging findings. The primary diseases of the subjects included acute lymphocytic leukemia (n=2), Henoch-Schönlein purpura (n=1), systemic lupus erythematous (n=1), and acute poststreptococcal glomerulonephritis (n=1). The mean age was 10±4.58 years (range, 5–14 years). Acute elevation of blood pressure was found in all patients (n=5). Initial neurologic manifestations included seizure, clouding of consciousness, headache, and visual disturbance. After the diagnosis was made through clinical evaluations and magnetic resonance imaging, complete clinical recovery was obtained in all patients with the appropriate therapeutic approach. In conclusion, posterior reversible encephalopathy syndrome should be considered in the differential diagnosis of patients who present with encephalopathy and underlying diseases such as nephritis, vasculitis, malignancy accompanied by hypertension, and a history of use of medication. PMID:28123335

  2. Reversible Cerebral Vasoconstriction Syndrome, Part 1: Epidemiology, Pathogenesis, and Clinical Course.

    PubMed

    Miller, T R; Shivashankar, R; Mossa-Basha, M; Gandhi, D

    2015-08-01

    Reversible cerebral vasoconstriction syndrome is a clinical and radiologic syndrome that represents a common presentation of a diverse group of disorders. The syndrome is characterized by thunderclap headache and reversible vasoconstriction of cerebral arteries, which can either be spontaneous or related to an exogenous trigger. The pathophysiology of reversible cerebral vasoconstriction syndrome is unknown, though alterations in cerebral vascular tone are thought to be a key underlying mechanism. The syndrome typically follows a benign course; however, reversible cerebral vasoconstriction syndrome may result in permanent disability or death in a small minority of patients secondary to complications such as ischemic stroke or intracranial hemorrhage. © 2015 by American Journal of Neuroradiology.

  3. A case of cerebellar psychopathology.

    PubMed

    Rosinski, Amy; Goldman, Mona; Cameron, Oliver

    2010-01-01

    Pathology of the cerebellum has traditionally been associated with motor symptoms, vertigo, and nystagmus. Patients with cerebellar disorders do not usually receive psychiatric evaluations. The authors seek to alert clinicians to the association between cerebellar disease and psychiatric symptoms. The authors describe a patient with uncommon psychiatric morbidity associated with cerebellar dysfunction, and provide a brief review of previous research on this phenomenon. Neurology consultants suggested that physical exam findings and behavioral changes could be accounted for by cerebellar cognitive affective syndrome. This syndrome involves dysfunction of the cerebellum, including classic cerebellar findings, in addition to cognitive difficulties and affective/personality changes. The suspected etiology was post-infectious cerebellitis from Epstein-Barr virus infection.

  4. Cerebellar Development and Disease

    PubMed Central

    Gleeson, Joseph G.

    2008-01-01

    Recent Advances The molecular control of cell type specification within the developing cerebellum as well as the genetic causes of the most common human developmental cerebellar disorders have long remained mysterious. Recent genetic lineage and loss-of-function data from mice have revealed unique and non-overlapping anatomical origins for GABAergic neurons from ventricular zone precursors and glutamatergic cell from rhombic lip precursors, mirroring distinct origins for these neurotransmitter-specific cell types in the cerebral cortex. Mouse studies elucidating the role of Ptf1a as a cerebellar ventricular zone GABerigic fate switch were actually preceded by the recognition that PTF1A mutations in humans cause cerebellar agenesis, a birth defect of the human cerebellum. Indeed, several genes for congenital human cerebellar malformations have recently been identified, including genes causing Joubert syndrome, Dandy-Walker malformation and Ponto-cerebellar hypoplasia. These studies have pointed to surprisingly complex roles for transcriptional regulation, mitochondrial function and neuronal cilia in patterning, homeostasis and cell proliferation during cerebellar development. Together mouse and human studies are synergistically advancing our understanding of the developmental mechanisms that generate the uniquely complex mature cerebellum. PMID:18513948

  5. Differences in cortico-striatal-cerebellar activation during working memory in syndromal and nonsyndromal children with prenatal alcohol exposure.

    PubMed

    Diwadkar, Vaibhav A; Meintjes, Ernesta M; Goradia, Dhruman; Dodge, Neil C; Warton, Christopher; Molteno, Christopher D; Jacobson, Sandra W; Jacobson, Joseph L

    2013-08-01

    Although children with heavy prenatal alcohol exposure may exhibit the distinctive facial dysmorphology seen in full or partial fetal alcohol syndrome (FAS/PFAS), many lack that dysmorphology. This study examined the functional organization of working memory in the brain in three groups of children-those meeting diagnostic criteria for FAS or PFAS, heavily exposed (HE) nonsyndromal children, and healthy controls. A verbal n-back task (1-back and 0-back) was administered to 47 children (17 with FAS/PFAS, 13 HE, and 17 controls) during fMRI. Intra-group one-sample t-tests were used to identify activity regions of interest central to verbal working memory including the dorsal prefrontal cortex (dPFC), inferior frontal gyrus, caudate/putamen, parietal cortex, and cerebellar Crus I/lobule VI and lobule VIIB-IX. Whereas groups did not differ in task sensitivity, fMRI analyses suggested different patterns of sub-network recruitment across groups. Controls primarily recruited left inferior frontal gyrus (Broca's area). By contrast, HE primarily recruited an extensive set of fronto-striatal regions, including left dPFC and left caudate, and the FAS/PFAS group relied primarily on two cerebellar subregions and parietal cortex. This study is, to our knowledge, the first to demonstrate differential recruitment of critical brain regions that subserve basic function in children with different fetal alcohol spectrum disorders compared to controls. The distinct activation patterns seen in the two exposed groups may be related to substantial differences in alcohol dose/occasion to which these groups were exposed in utero.

  6. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

    PubMed Central

    Zaki, Maha S; Salam, Ghada M H Abdel; Saleem, Sahar N; Dobyns, William B; Issa, Mahmoud Y; Sattar, Shifteh; Gleeson, Joseph G

    2011-01-01

    We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc. PMID:22002884

  7. Post-operative pediatric cerebellar mutism syndrome and its association with hypertrophic olivary degeneration

    PubMed Central

    Spiteri, Michaela; Kumar, Ram; Lewis, Emma; Harave, Srikrishna; Windridge, David; Ong, Chan; Pizer, Barry

    2016-01-01

    Background The dentato-thalamo-cortical (DTC) pathway is recognized as the anatomical substrate for postoperative pediatric cerebellar mutism (POPCMS), a well-recognized complication affecting up to 31% of children undergoing posterior fossa brain tumour resection. The proximal structures of the DTC pathway also form a segment of the Guillain and Mollaret triangle, a neural network which when disrupted causes hypertrophic olivary degeneration (HOD) of the inferior olivary nucleus (ION). We hypothesize that there is an association between the occurrence of POPCMS and HOD and aim to evaluate this on MR imaging using qualitative and quantitative analysis of the ION in children with and without POPCMS. Methods In this retrospective study we qualitatively analysed the follow up MR imaging in 48 children who underwent posterior fossa tumour resection for presence of HOD. Quantitative analysis of the ION was possible in 28 children and was performed using semi-automated segmentation followed by feature extraction and feature selection techniques and relevance of the features to POPCMS were evaluated. The diagnosis of POPCMS was made independently based on clinical and nursing assessment notes. Results There was significant association between POPCMS and bilateral HOD (P=0.002) but not unilateral HOD. Quantitative analysis showed that hyperintensity in the left ION was the most relevant feature in children with POPCMS. Conclusions Bilateral HOD can serve as a reliable radiological indicator in establishing the diagnosis of POPCMS particularly in equivocal cases. The strong association of signal change due to HOD in the left ION suggests that injury to the right proximal efferent cerebellar pathway plays an important role in the causation of POPCMS. PMID:27942473

  8. Multiple cavitations in posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome.

    PubMed

    Fujii, Katsunori; Matsuo, Kaoru; Takatani, Tomozumi; Uchikawa, Hideki; Kohno, Yoichi

    2012-04-01

    We describe a 4-year-old boy with posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome. He exhibited bloody stool by Escherichia coli O157: H7 infection with acute renal failure. He subsequently presented high blood pressure, followed by visual disturbance and loss of consciousness. Brain MRI revealed bilateral occipital high intensities by T2-weighted images and high value by apparent diffusion coefficient map, thus we made a diagnosis of posterior reversible leukoencephaly syndrome associated with hemolytic-uremic syndrome. In spite of immediate blood pressure control, occipital lesions developed day by day, resulting in multiple subcortical cavitations. Although posterior reversible leukoencephalopathy syndrome is originally characterized by reversible vasogenic edema, this case rarely resulted in irreversible changes with cystic formation. We concluded that precipitating factors, i.e., clotting abnormalities, Shiga toxin, vasospasms and endothelial dysfunction might have synergistically induced irreversible brain infarcts, and caused unusual cavitations. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  9. Reversible cerebral vasoconstriction syndrome in association with fingolimod use.

    PubMed

    Belliston, Scott; Sundararajan, Jayshree; Hammond, Nancy; Newell, Kathy; Lynch, Sharon

    2017-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS), also known as Call-Fleming syndrome, is characterized by thunderclap headaches, non-aneurysmal segmental cerebral vasoconstriction seen on arteriogram, and spontaneously resolves within 12 weeks. Fingolimod has been reported to cause posterior reversible encephalopathy syndrome (PRES) and one case of RCVS. We report a case of RCVS possibly related to fingolimod use, and compare to cases of adverse outcomes in fingolimod use. This is a single observational study without controls; therefore, level of evidence is IV. A literature review in pubmed with keywords, fingolimod, vasospasm, RCVS, Call-Fleming, stroke, PRES and hemorrhage. One case of RCVS on fingolimod in the post-partum period. Two other cases in the literature were found one with hemorrhagic encephalitis and the other critical vasospasm in the upper extremity associated with fingolimod 1.25 mg daily in the FREEDOMS II trial and TRANSFORMS study, respectively. Additionally, Novartis reports nine cases of PRES related to fingolimod use. Fingolimod has the potential to cause vasoconstriction however appears to be rare and more likely on doses higher than 0.5 mg daily. Fingolimod may be associated in RCVS and should be considered in patients with severe headache on fingolimod.

  10. Reversible Cerebral Vasoconstriction Syndrome Without Typical Thunderclap Headache.

    PubMed

    Wolff, Valérie; Ducros, Anne

    2016-04-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe headache and diffuse segmental intracranial arterial constriction that resolve within three months. Stroke, which is the major complication of RCVS, can result in persistent neurological disability, and rarely causes death. Diagnosis of RCVS early in the clinical course might improve outcomes. Although recurrent thunderclap headache is the clinical hallmark of RCVS, the absence of such a pattern should not lead to discard the diagnosis. Our literature review shows that RCVS can also manifest as an unspecific headache, such as a single severe headache episode, a mild or a progressive headache. Moreover, a subset of patients with severe RCVS presents without any headache, but frequently with seizures, focal neurological deficits, confusion or coma, in the setting of stroke or posterior reversible encephalopathy syndrome. These patients may be aphasic or in comatose state, explaining their inability to give their own medical history. They may have forgotten the headache they had a few days before more dramatic symptoms, or may have a variant of the classical RCVS. By consequence, an RCVS should be suspected in patients with any unusual headache, whether thunderclap or not, and in patients with cryptogenic stroke or convexity subarachnoid hemorrhage, whether the patient also has headache or not. Diagnosis in such cases relies on the demonstration of reversible multifocal intracranial arterial stenosis and the exclusion of other causes.

  11. [Synchronous appearance and improvement with anticancer chemotherapy of paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome complicated with small cell lung cancer].

    PubMed

    Koriyama, Haruki; Kyoraku, Itaru; Yamashita, Shuichi; Shiomi, Kazutaka; Matsumoto, Nobuhiro; Nakazato, Masamitsu

    2013-01-01

    A 62-year-old man who had suffered from instability of gait and double vision for two months was admitted to our hospital because of weakness of the extremities and ataxia of the extremities and trunk. Chest X-rays and CT scans showed enlargement of the left hilar lymph nodes and a nodular shadow in the left lung. Transbronchial biopsy revealed small cell lung cancer. We diagnosed the patient with two conditions: paraneoplastic cerebellar degeneration (PCD), based on cerebellar ataxia, the presence of Hu antineuronal antibodies, and the absence of cerebellar atrophy and malignancy; and Lambert-Eaton myasthenic syndrome (LEMS), based on weakness of the extremities, the presence of P/Q-type voltage-gated calcium channel antibodies, and waxing in the evoked electromyogram. Anticancer chemoradiation therapy that was started within three months of symptom onset resulted in reductions in size of the hilar lymph nodes and the nodule. Concurrently, cerebellar ataxia, weakness of the extremities, and double vision all disappeared. Anticancer chemotherapy is effective against LEMS while usually less effective against PCD. Early commencement of anticancer chemotherapy is recommended for the treatment of PCD with LEMS.

  12. Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome: A Case Report.

    PubMed

    Magno Pereira, Vítor; Marote Correia, Luís; Rodrigues, Tiago; Serrão Faria, Gorete

    2016-09-01

    The posterior reversible encephalopathy syndrome is a neurological syndrome characterized by headache, confusion, visual disturbances and seizures associated with identifiable areas of cerebral edema on imaging studies. The authors report the case of a man, 33 years-old, leukodermic with a history of chronic alcohol and tobacco consumption, who is admitted to the emergency department for epigastric pain radiating to the back and vomiting with about six hours of evolution and an intense holocranial headache for two hours. His physical examination was remarkable for a blood pressure of 190/100 mmHg and tenderness in epigastrium. His analytical results revealed emphasis on amylase 193 U/L and lipase 934 U/L. During the observation in the emergency department,he presented a generalized tonic-clonic seizure. Abdominal ultrasonography was performed and suggestive of pancreatitis withoutgallstones signals. Head computed tomography showed subarachnoid haemorrhage and a small right frontal cortical haemorrhage. The brain magnetic resonance imaging done one week after admission showed areas of a bilateral and symmetrical T2 / FLAIR hyperintensities in the subcortical white matter of the parietal and superior frontal regions, suggesting a diagnosis of posterior reversible encephalopathy syndrome. Abdominal computed tomography (10 days after admission) demonstrated a thickened pancreas in connection with inflammation and two small hypodense foci in the anterior part of the pancreas body, translating small foci of necrosis. The investigation of a thrombophilic defect revealed a heterozygous G20210A prothrombin gene mutation. The patient was discharged without neurological sequelae and asymptomatic. The follow-up brain magnetic resonance imaging confirmed the reversal of the lesions, confirming the diagnosis.

  13. Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome.

    PubMed

    Kapina, Viktoria; Vargas, Maria-Isabel; Wohlrab, Gabriele; Vulliemoz, Serge; Fluss, Joel; Seeck, Margitta

    2013-12-01

    Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented with focal complex seizures and cerebral MRI showed posterior encephalopathy and no hippocampal sclerosis. MRI after one month confirmed the diagnosis of PRES. The seizures recurred and the girl developed pharmacoresistant epilepsy and was admitted to our hospital for further investigation. Cerebral MRI three years after the diagnosis of PRES showed hippocampal sclerosis which was not present on the initial MRI. We conclude that there is a triggering role of PRES in the development of hippocampal sclerosis. Hippocampal sclerosis may have resulted from seizure-associated damage, alternatively, hypertensive encephalopathy may have led to hippocampal damage via a vascular mechanism.

  14. Posterior reversible encephalopathy syndrome following a scorpion sting.

    PubMed

    Porcello Marrone, Luiz Carlos; Marrone, Bianca Fontana; Neto, Felipe Kalil; Costa, Francisco Cosme; Thomé, Gustavo Gomes; Aramburu, Martin Brandolt; Schilling, Lucas Porcello; Pascoal, Tharick Ali; Gadonski, Giovani; Huf Marrone, Antônio Carlos; da Costa, Jaderson Costa

    2013-10-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity not yet understood, that is present with transient neurologic symptoms and particular radiological findings. The most common imaging pattern in PRES is the presence of edema in the white matter of the posterior portions of both cerebral hemispheres. The cause of PRES is unclear. We report a case of 13-year-old male who was stung by a scorpion and developed a severe headache, visual disturbance, and seizures and had the diagnosis of PRES with a good outcome. Numerous factors can trigger this syndrome, most commonly: acute elevation of blood pressure, abnormal renal function, and immunosuppressive therapy. There are many cases described showing the relationship between PRES and eclampsia, transplantation, neoplasia and chemotherapy treatment, systemic infections, renal disease acute, or chronic. However, this is the first case of PRES following a scorpion sting.

  15. A reversible posterior leucoencephalopathy syndrome including blindness caused by preeclampsia

    PubMed Central

    Vandenbossche, G; Maquet, J; Vroonen, P; Lambert, G; Nisolle, M; Kridelka, F; Emonts, E

    2016-01-01

    Complications of (pre)eclampsia may involve multiple systems and organs. Neurological symptoms may occur. Visual symptoms concern up to 25% the of patients with severe preeclampsia and 50% of the patients with eclampsia. An uncommon effect of severe preeclampsia is sudden blindness. Blindness may be part of a clinical and radiological presentation named Posterior Reversible Encephalopathy Syndrome (PRES). PRES may lead to permanent neurological deficit, recurrences or death. We report the case of a 24-year-old Caucasian patient, gravida 5 para 2 who developed preeclampsia and PRES complicated with blindness at 32 weeks of gestation. Optimal care allowed visual symptoms to resolve within 24 hours and a favourable maternal outcome and no long- term sequelae. We describe different causes and manifestations of PRES and highlight the need for immediate care in order to optimize the chance of symptoms reversibility. PMID:28003872

  16. Posterior reversible encephalopathy syndrome associated with left horizontal gaze palsy

    PubMed Central

    Studyvin, Sarah; Al-Halawani, Moh’d; Amireh, Sawsan; Thawabi, Mohammad

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by rapid onset of symptoms including headache, seizures, altered consciousness, and visual disturbance, as well as radiologic findings of focal reversible vasogenic edema. Multiple visual disturbances have been described in PRES, such as hemianopia, visual neglect, auras, visual hallucinations, and cortical blindness. However, horizontal gaze palsy has not been previously reported. We report a 72-year-old female who presented with blurred vision, severe headache, lethargy, and later developed seizures. She was found to have left horizontal gaze palsy with intact vestibulo-ocular reflex. Brain magnetic resonance imaging (MRI) showed severe edema throughout the subcortical white matter, and signal in the posterior parietal and occipital lobes. She was diagnosed with PRES associated with supranuclear gaze palsy. PMID:28361069

  17. Study of Posterior Reversible Encephalopathy Syndrome in Children With Acute Lymphoblastic Leukemia After Induction Chemotherapy.

    PubMed

    Tang, Ji-Hong; Tian, Jian-Mei; Sheng, Mao; Hu, Shao-Yan; Li, Yan; Zhang, Li-Ya; Gu, Qing; Wang, Qi

    2016-03-01

    Increasing occurrence of posterior reversible encephalopathy syndrome has been reported in children with acute lymphoblastic leukemia. However, the etiology of posterior reversible encephalopathy syndrome is not clear. To study the possible pathogenetic mechanisms and treatment of this complication, we reported 11 cases of pediatric acute lymphoblastic leukemia who developed posterior reversible encephalopathy syndrome after induction chemotherapy. After appropriate treatment, the clinical symptoms of posterior reversible encephalopathy syndrome in most cases disappeared even though induction chemotherapy continued. During the 1-year follow-up, no recurrence of posterior reversible encephalopathy syndrome was observed. Although the clinical and imaging features of posterior reversible encephalopathy syndrome may be diverse, posterior reversible encephalopathy syndrome should be recognized as a possible important complication of acute lymphoblastic leukemia when neurologic symptoms appear. In line with previous reports, our study also indicated that posterior reversible encephalopathy syndrome was reversible when diagnosed and treated at an early stage. Thus, the occurrence of posterior reversible encephalopathy syndrome should be considered and investigated to optimize the early induction scheme of acute lymphoblastic leukemia treatment.

  18. Reversible hypertensive encephalomyelopathy - the spinal variant of the posterior reversible encephalopathy syndrome.

    PubMed

    Wu, Teddy Y; Wei, Diana Y; Jordan, Anthony; Kenedi, Chris; Smith, Andrew D; Kilfoyle, Dean H

    2015-05-01

    Posterior reversible encephalopathy syndrome (PRES) is characterised clinically by encephalopathy, headache, visual disturbance and/or focal neurological symptoms. Bilateral cerebral oedema on T2 MRI sequences within the posterior cerebral white matter is the radiological hallmark, although involvement of the frontal lobe, basal ganglia and brainstem can occur. PRES with spinal cord involvement has been rarely reported and is under-recognised due to lack of myelopathic features in nearly half of the reported cases. We report a patient with PRES with spinal cord involvement and review the literature.

  19. [Reversible cerebral vasoconstriction syndrome (RCVS) triggered by nicotine patches].

    PubMed

    Hijikata, Yasuhiro; Watanabe, Hirohisa; Ito, Mizuki; Yoneyama, Noritaka; Atsuta, Naoki; Sobue, Gen

    2013-01-01

    We present a case of a patient with reversible cerebral vasoconstriction syndrome (RCVS) triggered by nicotine patches. A-50-year-old woman had no medical history and no regular medication. She smoked 20 cigarettes a day for 30 years. Six days after using nicotine patches, she had recurrent severe headaches of sudden onset (thunderclap headaches). On examination, the blood pressure was 142/88 mmHg. Her neurological and general examination, laboratory serum investigations, and cerebrospinal fluid examination were normal. Magnetic resonance imaging (MRI) including magnetic resonance angiography (MRA) on admission, day 10 after the first episode showed severe multifocal segmental narrowing of the bilateral posterior cerebral artery (PCA). Cessation of nicotine patches and administration of calcium-channel antagonist amlodipine 5 mg daily ameliorated her headache. Follow-up MRA, 37 days after the first episode, showed improvement of PCA stenosis. We diagnosed her as reversible cerebral vasoconstriction syndrome (RCVS) due to nicotine patches. It is important to recognize nicotine patches as a trigger of RCVS.

  20. Antepartum reversible cerebral vasoconstriction syndrome with pre-eclampsia and reversible posterior leukoencephalopathy.

    PubMed

    Tanaka, Kei; Matsushima, Miho; Matsuzawa, Yukiko; Wachi, Yuichi; Izawa, Tomoko; Sakai, Keiji; Kobayashi, Yoichi; Iwashita, Mitsutoshi

    2015-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe headache and diffuse segmental constriction of the cerebral arteries that resolves spontaneously within a few months. Pregnancy is one of the precipitating factors of RCVS and most of the reported cases occurred in the post-partum period. We report a case of RCVS that occurred in a pregnant women with pre-eclampsia during her antepartum period. A 34-year-old woman in full-term pregnancy presented with a severe and acute headache. Magnetic resonance angiography (MRA) showed multiple segmental constrictions of the cerebral arteries. Magnetic resonance imaging revealed a high-intensity lesion in the left occipital lobe, consistent with reversible posterior leukoencephalopathy syndrome, on fluid attenuated inversion recovery sequences. The case was also complicated by severe pre-eclampsia and the patient underwent emergency cesarean section. Although her symptoms resolved rapidly, MRA revealed new lesions of arterial constriction 4 days after onset. The vasoconstriction completely resolved on MRA after 10 days and the patient was discharged without neurological sequelae. © 2015 Japan Society of Obstetrics and Gynecology.

  1. Reversible cerebral vasoconstriction syndrome identification of prognostic factors.

    PubMed

    Robert, Th; Kawkabani Marchini, A; Oumarou, G; Uské, A

    2013-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is described as a clinical and radiological entity characterized by thunderclap headaches, a reversible segmental or multifocal vasoconstriction of cerebral arteries with or without focal neurological deficits or seizures. The purpose of this study is to determine risk factors of poor outcome in patients presented a RCVS. A retrospective multi-center review of invasive and non-invasive neurovascular imaging between January 2006 and January 2011 has identified 10 patients with criterion of reversible segmental vasoconstriction syndrome. Demographics data, vascular risks and evolution of each of these patients were analyzed. Seven of the ten patients were females with a mean age of 46 years. In four patients, we did not found any causative factors. Two cases presented RCVS in post-partum period between their first and their third week after delivery. The other three cases were drug-induced RCVS, mainly vaso-active drugs. Cannabis was found as the causative factor in two patient, Sumatriptan identified in one patient while cyclosporine was the causative agent in also one patient. The mean duration of clinical follow-up was 10.2 months (range: 0-28 months). Two patients had neurological sequelae: one patient kept a dysphasia and the other had a homonymous lateral hemianopia. We could not find any significant difference of the evolution between secondary RCVS and idiopathic RCVS. The only two factors, which could be correlated to the clinical outcome were the neurological status at admission and the presence of intraparenchymal abnormalities (ischemic stroke, hematoma) in brain imaging. Fulminant vasoconstriction resulting in progressive symptoms or death has been reported in exceptional frequency. Physicians had to remember that such evolution could happen and predict them by identifying all factors of poor prognosis (neurological status at admission, the presence of intraparenchymal abnormalities). Published by

  2. Reversible posterior leukoencephalopathy in the course of Goodpasture syndrome.

    PubMed

    Ozkok, Abdullah; Elcioglu, Omer Celal; Bakan, Ali; Atilgan, Kadir Gokhan; Alisir, Sabahat; Odabas, Ali Riza

    2012-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is characterized by headache, altered consciousness, seizures, and cortical blindness. The most frequent etiological factors are hypertension, kidney diseases, and immunosuppressive drugs such as steroids and cyclophosphamide. Herein we present a case of a 22-year-old female patient presented with alveolar hemorrhage and acute renal failure necessitating hemodialysis. In renal biopsy, necrotizing crescentic glomerulonephritis and immunofluorescence pattern compatible with Goodpasture syndrome were found. Anti-glomerular basement membrane antibody result was positive. At follow-up, respiratory failure ensued, steroid pulse treatment was started, and she was transferred to intensive care unit (ICU). In the ICU, she had visual disturbances and blindness together with seizures. Cranial magnetic resonance imaging (MRI) revealed irregular T2- and fluid-attenuated inversion recovery (FLAIR)-weighted lesions in bilateral occipital lobes. On clinical and radiological grounds, RPLS was diagnosed. With the supportive and anti-hypertensive treatment, RPLS was resolved without a sequela. Subsequent cranial MRI was totally normal. In the literature, RPLS associated with Goodpasture syndrome was reported only once. Hypertension and methylprednisolone might be the responsible etiologies in this case.

  3. Reversible splenial lesion syndrome associated with lobar pneumonia

    PubMed Central

    Li, Chunrong; Wu, Xiujuan; Qi, Hehe; Cheng, Yanwei; Zhang, Bing; Zhou, Hongwei; Lv, Xiaohong; Liu, Kangding; Zhang, Hong-Liang

    2016-01-01

    Abstract Background: Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder with unclear pathophysiology. Clinically, RESLES is defined as reversible isolated splenial lesions in the corpus callosum, which can be readily identified by magnetic resonance imaging (MRI) and usually resolve completely over a period of time. RESLES could be typically triggered by infection, antiepileptic drugs (AEDs), poisoning, etc. More factors are increasingly recognized. Methods and results: We reported herein an 18-year-old female patient with lobar pneumonia who developed mental abnormalities during hospitalization. An isolated splenial lesion in the corpus callosum was found by head MRI and the lesion disappeared 15 days later. Based on her clinical manifestations and radiological findings, she was diagnosed with lobar pneumonia associated RESLES. We further summarize the up-to-date knowledge about the etiology, possible pathogenesis, clinical manifestations, radiological features, treatment, and prognosis of RESLES. Conclusion: This report contributes to the clinical understanding of RESLES which may present with mental abnormalities after infection. The characteristic imaging of reversible isolated splenial lesions in the corpus callosum was confirmed in this report. The clinical manifestations and lesions on MRI could disappear naturally after 1 month without special treatment. PMID:27684805

  4. Posterior Reversible Encephalopathy Syndrome (PRES) in 5-year-old girl with nephrotic syndrome.

    PubMed

    Kabicek, Pavel; Sulek, Stepan; Seidl, Zdenek; Vaneckova, Manuela; Kabickova, Edita; Vobruba, Vaclav; Wenchich, Laszlo; Zeman, Jiri

    2010-01-01

    Posterior Reversible Encephalopathy Syndrome (PRES) is a rare complication of nephrotic syndrome in children. This clinical condition is caused by localized brain angioedema mostly in parieto-occipital region and results in dramatic and acute features as sudden loss of consciousness, epileptic paroxysms, strong headache or visual disturbances. Uncontrolled hypertension often participates in PRES development. We present the case of a 5-year-old girl treated for relapse of nephrotic syndrome. At the time of edema regression and weight reduction, a sudden loss of consciousness and worsening of hypertension occurred. Brain MRI demonstrated extended multifocal changes strongly suspicious of encephalitis. After exclusion of herpetic encephalitis, the clinical picture was classified as PRES. Successful antihypertensive treatment led to general improvement of the girl's health within 48 hours and resolution of MRI brain hyperintensities occurred within the next three months. The aim of our case report is to us remind of possible development of PRES at the time of edema regression in nephrotic syndrome.

  5. Neurotransplantation therapy and cerebellar reserve.

    PubMed

    Cendelin, Jan; Mitoma, Hiroshi; Manto, Mario

    2017-08-10

    Neurotransplantation has been recently the focus of interest as a promising therapy to substitute lost cerebellar neurons and improve cerebellar ataxias. However, since cell differentiation and synaptic formation are required to obtain a functional circuitry, highly integrated reproduction of cerebellar anatomy is not a simple process. Rather than a genuine replacement, recent studies have shown that grafted cells rescue surviving cells from neurodegeneration by exerting trophic effects, supporting mitochondrial function, modulating neuroinflammation, stimulating endogenous regenerative processes, and facilitating cerebellar compensatory properties thanks to neural plasticity. On the other hand, accumulating clinical evidence suggests that the self-recovery capacity is still preserved even if the cerebellum is affected by a diffuse and progressive pathology. We put forward the period with intact recovery capacity as "restorable stage" and the notion of reversal capacity as "cerebellar reserve". The concept of cerebellar reserve is particularly relevant, both theoretically and practically, to target recovery of cerebellar deficits by neurotransplantation. Reinforcing the cerebellar reserve and prolonging the restorable stage can be envisioned as future endpoints of neurotransplantation. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  6. Cerebellar Degeneration

    MedlinePlus

    ... is a process in which neurons in the cerebellum - the area of the brain that controls coordination ... body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include: ischemic ...

  7. Reversible operculum syndrome caused by progressive epilepsia partialis continua in a child with left hemimegalencephaly.

    PubMed Central

    Fusco, L; Vigevano, F

    1991-01-01

    In a child with left hemimegalencephaly and seizures, a reversible operculum syndrome developed when continuous epileptic discharges spread from the left hemisphere to the contralateral central regions. The operculum syndrome lasted for three months until left hemispherectomy was performed. Soon after surgery the seizures and the operculum syndrome resolved. The operculum syndrome is a facio-pharyngo-glosso-masticatory diplegia usually due to structural lesions in both opercular regions. The reversibility of the syndrome in the reported case demonstrates that the operculum syndrome is sometimes functional rather than lesional. Images PMID:1908890

  8. Posterior reversible encephalopathy syndrome in patient of severe preeclampsia with Hellp syndrome immediate postpartum.

    PubMed

    Babahabib, Moulay Abdellah; Abdillahi, Ibrahima; Kassidi, Farid; Kouach, Jaouad; Moussaoui, Driss; Dehayni, Mohammed

    2015-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an association of HELLP syndrome presenting with status-epileptics. Early diagnosis along with timely supportive therapy resulted in the successful management of this challenging case. Recent understanding on the pathophysiology of this uncommon condition is discussed. We highlight the importance to obstetricians, intensive-care physicians and anesthesiologists of recognizing such cases.

  9. Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS).

    PubMed

    Goji, Aya; Ito, Hiromichi; Mori, Kenji; Harada, Masafumi; Hisaoka, Sonoka; Toda, Yoshihiro; Mori, Tatsuo; Abe, Yoko; Miyazaki, Masahito; Kagami, Shoji

    2017-01-01

    Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear. The present study used proton magnetic resonance spectroscopy (1H MRS) to investigate whether pediatric AS is associated with measurable neurometabolic abnormalities that can contribute new information on the neurobiological underpinnings of the disorder. Study participants consisted of 34 children with AS (2-12 years old; mean age 5.2 (±2.0); 28 boys) and 19 typically developed children (2-11 years old; mean age 5.6 (±2.6); 12 boys) who served as the normal control group. The 1H MRS data were obtained from two regions of interest: the anterior cingulate cortex (ACC) and left cerebellum. In the ACC, levels of N-acetylaspartate (NAA), total creatine (tCr), total choline-containing compounds (tCho) and myo-Inositol (mI) were significantly decreased in children with AS compared to controls. On the other hand, no significant group differences in any of the metabolites were found in the left cerebellum. Neither age nor sex accounted for the metabolic findings in the regions. The finding of decreased levels of NAA, tCr, tCho, and mI in the ACC but not in left cerebellar voxels in the AS, suggests a lower ACC neuronal density in the present AS cohort compared to controls.

  10. Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS)

    PubMed Central

    Goji, Aya; Ito, Hiromichi; Mori, Kenji; Harada, Masafumi; Hisaoka, Sonoka; Toda, Yoshihiro; Mori, Tatsuo; Abe, Yoko; Miyazaki, Masahito; Kagami, Shoji

    2017-01-01

    Purpose Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger’s syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear. The present study used proton magnetic resonance spectroscopy (1H MRS) to investigate whether pediatric AS is associated with measurable neurometabolic abnormalities that can contribute new information on the neurobiological underpinnings of the disorder. Methods Study participants consisted of 34 children with AS (2–12 years old; mean age 5.2 (±2.0); 28 boys) and 19 typically developed children (2–11 years old; mean age 5.6 (±2.6); 12 boys) who served as the normal control group. The 1H MRS data were obtained from two regions of interest: the anterior cingulate cortex (ACC) and left cerebellum. Results In the ACC, levels of N-acetylaspartate (NAA), total creatine (tCr), total choline-containing compounds (tCho) and myo-Inositol (mI) were significantly decreased in children with AS compared to controls. On the other hand, no significant group differences in any of the metabolites were found in the left cerebellum. Neither age nor sex accounted for the metabolic findings in the regions. Conclusion The finding of decreased levels of NAA, tCr, tCho, and mI in the ACC but not in left cerebellar voxels in the AS, suggests a lower ACC neuronal density in the present AS cohort compared to controls. PMID:28060873

  11. Reversibility of functional deficits in experimental models of Rett syndrome.

    PubMed

    Cobb, Stuart; Guy, Jacky; Bird, Adrian

    2010-04-01

    Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). Deletion of Mecp2 in mice recapitulates many of the overt neurological features seen in humans, and the delayed onset of symptoms is accompanied by deficits in neuronal morphology and synaptic physiology. Recent evidence suggests that reactivation of endogenous Mecp2 in young and adult mice can reverse aspects of RTT-like pathology. In the current perspective, we discuss these findings as well as other genetic, pharmacological and environmental interventions that attempt phenotypic rescue in RTT. We believe these studies provide valuable insights into the tractability of RTT and related conditions and are useful pointers for the development of future therapeutic strategies.

  12. Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis

    PubMed Central

    Lee, Ki Wuk; Lee, Sang Taek

    2016-01-01

    Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in TA can cause PRES. We report of a 5-year-old girl with presumed TA who presented with PRES and chronic total occlusion in the renal artery. The findings on magnetic resonance imaging suggested PRES. Left nephrectomy was performed for total occlusion of the left renal artery, and the confirmatory diagnosis of TA was based on the pathologic findings of the renal artery. PMID:28018468

  13. Reversible Cerebral Vasoconstriction Syndrome Presenting with Transient Global Amnesia

    PubMed Central

    Isahaya, Kenji; Shinohara, Kensuke; Akamatu, Masashi; Shimizu, Takahiro; Sakurai, Kenzo; Shiraishi, Makoto; Akiyama, Hisanao; Hasegawa, Yasuhiro

    2017-01-01

    A 65-year-old man who had been diagnosed with transient global amnesia (TGA) 15 years previously was admitted to hospital with complaints of amnesia and headache. His symptoms improved on day-2. The initial brain MRI and electroencephalography findings were normal. He was diagnosed with a recurrence of TGA and discharged. However, he returned with right leg weakness and complained of a thunderclap headache. MRI demonstrated subarachnoid hemorrhage and multifocal segmental narrowing of the left posterior cerebral artery (PCA) and large intracranial arteries, and he was diagnosed with reversible cerebral vasoconstriction syndrome (RCVS). He was discharged on day-30 without any neurological deficits. This case suggested that TGA should be interpreted as one of the symptoms of RCVS or a prodromal symptom of RCVS. PMID:28626186

  14. Reversible cerebral vasoconstriction syndrome: a review of recent research.

    PubMed

    Velez, Arnaldo; McKinney, James S

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a collective term used for transient noninflammatory, nonatherosclerotic segmental constriction of cerebral arteries. The angiopathies of RCVS have previously been defined by several nomenclatures. Current opinion favors the unification of these pathophysiologically related angiopathies because of their similar angiographic features and clinical course. RCVS typically presents acutely as headache, delirium, seizure, cerebral ischemia, and/or hemorrhage. The angiographic features make RCVS an important mimic of CNS vasculitides. In contrast to CNS vasculitis, RCVS is typically a transient condition with relatively good clinical outcomes. Although a complete understanding of the etiological and pathological features of RCVS has not yet been achieved, alterations in vascular tone lead to the observed arterial changes. In this review, we aim to provide a summary of RCVS and provide insight into current perspectives of the underlying pathophysiological processes, diagnosis, and treatment.

  15. Reversible cerebral vasoconstriction syndrome precipitated by airplane descent: Case report.

    PubMed

    Hiraga, Akiyuki; Aotsuka, Yuya; Koide, Kyosuke; Kuwabara, Satoshi

    2016-08-12

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by segmental vasospasm. Vasoactive agents and childbirth have been reported as precipitating factors for RCVS; however, RCVS induced by altitude change or air travel has rarely been reported. We present a case of a 74-year-old woman who presented with thunderclap headache during airplane descent. Magnetic resonance angiography demonstrated segmental vasoconstriction that improved 9 days after onset. These findings indicate that airplane descent may be a trigger of RCVS. The time course of headache in the present case was similar to that of prolonged headache attributed to airplane travel, indicating that RCVS during air travel may have previously been overlooked and that some headache attributed to airplane travel cases may represent a milder form of RCVS. © International Headache Society 2016.

  16. Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome.

    PubMed

    Oikawa, Yoshitsugu; Okubo, Yukimune; Numata-Uematsu, Yurika; Aihara, Yu; Kitamura, Taro; Takayanagi, Masaru; Takahashi, Yukitoshi; Kure, Shigeo; Uematsu, Mitsugu

    2017-05-01

    We describe the case of a 10-year-old boy who developed reversible cerebral vasoconstriction syndrome (RCVS) after cerebellitis. He received intravenous immunoglobulin and methylprednisolone to treat the cerebellitis. However, he then presented with a sudden severe headache, vomiting, and generalized tonic-clonic seizure. Brain magnetic resonance angiography (MRA) initially revealed diffuse cerebral vasodilatations, and diffuse multifocal segmental vasoconstrictions developed several days later. His clinical symptoms gradually resolved after several days, in the absence of any specific therapy. MRA performed 46days after symptom onset showed that the multifocal segmental vasoconstrictions had resolved, suggesting a diagnosis of RCVS. The imaging features of RCVS include multifocal segmental vasoconstriction. However, our case suggests that diffuse cerebral vasodilatation may in fact be evident during the early stage of disease. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Posterior reversible encephalopathy syndrome and association with systemic lupus erythematosus.

    PubMed

    Ferreira, T S; Reis, F; Appenzeller, S

    2016-10-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological complex disorder with many clinical associations and causative factors. It is important to recognize this condition because early diagnosis and treatment usually result in its complete resolution, radiological imaging becoming the key for the correct diagnosis. We retrospectively reviewed charts and magnetic resonance imaging findings in the University of Campinas from January 2005 to July 2015, selecting three cases of patients with systemic lupus erythematosus syndrome who developed PRES, for whom risk factors, characteristics, magnetic resonance imaging findings and neurological resolution were analyzed. We also conducted a review of the English-language literature. The three cases had neurological symptoms like acute onset of headache, altered mental status, cortical blindness and seizures. Brain magnetic resonance imaging demonstrated posterior cortical and white matter alterations involving posterior brain territories, which were more conspicuous on T2-weighted and fluid-attenuated inversion recovery. Spectroscopy, diffusion-weighted imaging and susceptibility-weighted imaging were also important for neuroradiological evaluation. Immunosuppressive drugs were taken in all cases. Partial clinical and radiological recovery was observed in two cases, and complete resolution was observed in the third patient. We found 52 cases of PRES in systemic lupus erythematosus patients. Almost all patients were women 94%, ranging from 8 to 62 years old. Posterior brain territory involvements were found in 98% of patients. Hemorrhagic complications involved 26% of patients, becoming a risk factor for clinical sequels. The total percentage of patients with no complete resolution of radiological findings on follow-up images was 27.5%. In patients with autoimmune disorders, endothelial dysfunction may occur secondary to autoimmunity and the use of cytotoxic drugs, supposedly facilitating the occurrence of more

  18. Hyperintense vessels on flair imaging in reversible cerebral vasoconstriction syndrome.

    PubMed

    Chen, Shih-Pin; Fuh, Jong-Ling; Lirng, Jiing-Feng; Wang, Shuu-Jiun

    2012-03-01

    To study the frequency and significance of distal hyperintense vessels (HVs) on fluid-attenuated inversion recovery (FLAIR) imaging in patients with reversible cerebral vasoconstriction syndrome (RCVS). Patients with RCVS were recruited during 2002 through 2009. Prominence and location of HVs on FLAIR images during the acute and recovery stages were documented. Clinical profiles, vasoconstriction scores, mean flow velocities of the middle cerebral artery (V(MCA)) and posterior cerebral artery (V(PCA)), and the Lindegaard index (LI) were collected for analysis. Ninety-five patients with RCVS (11M/84F, mean age 47.8 ± 10.9 years) were recruited. Twenty-one (22.1%) had FLAIR HVs, which were noted at a mean of 14.3 ± 12.7 days and resolved by 44.9 ± 18.8 days. Compared with patients without HVs, patients with this finding had higher vasoconstriction scores for all arterial segments; higher V(MCA) (121.0 ± 39.5 cm/s vs. 93.3 ± 27.8, p = 0.002), V(PCA) (73.3 ± 35.0 vs. 50.5 ± 17.8 cm/s, p = 0.010), and LI (2.8 ± 1.2 vs. 1.9 ± 0.5, p = 0.018), and complications such as posterior reversible encephalopathy syndrome (PRES) [8/21 (38%) vs. 0/74 (0%), p < 0.001] or ischemic stroke [5/21 (24%) vs. 1/74 (1%), p = 0.002]. HVs in patients with RCVS might be attributed to the failure of cerebrospinal fluid (CSF) signal nulling on FLAIR imaging due to severe cerebral hemodynamic derangements and were associated with more frequent ischemic complications.

  19. Posterior reversible encephalopathy and cerebral vasoconstriction in a patient with hemolytic uremic syndrome.

    PubMed

    Agarwal, Rajkumar; Davis, Cresha; Altinok, Deniz; Serajee, Fatema J

    2014-05-01

    We report a patient with hemolytic uremic syndrome who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome. A 13-year-old girl presented with fever and bloody diarrhea and progressed to develop hemolytic uremic syndrome. She subsequently developed encephalopathy, aphasia, and right-sided weakness. Brain magnetic resonance imaging showed presence of vasogenic edema in the left frontal lobe, in addition to T2 and fluid-attenuated inversion recovery changes in white matter bilaterally, compatible with posterior reversible encephalopathy syndrome. Magnetic resonance angiography showed beading of the cerebral vessels. Neurological deficits reversed 8 days after symptom onset, with resolution of the beading pattern on follow-up magnetic resonance angiography after 3 weeks, suggesting reversible cerebral vasoconstriction syndrome. Both posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome may represent manifestations of similar underlying pathophysiologic mechanisms. Recognition of the co-existence of these processes in patients with hemolytic uremic syndrome may aid in judicious management of these patients and avoidance of inappropriate therapeutic interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Congenital subclavian steal syndrome with multiple cerebellar infarctions caused by an atypical circumflex retroesophageal right aortic arch with atretic aberrant left subclavian artery.

    PubMed

    Mamopoulos, Apostolos T; Luther, Bernd

    2014-09-01

    A right-sided aortic arch is a rare anomaly with an incidence of 0.1% worldwide and is usually associated with a mirror image of all supra-aortic branches or an aberrant left subclavian artery. The latter is often associated with a Kommerell diverticulum, although it can rarely be hypoplastic or atretic and lead to congenital subclavian steal. In most patients, the situation is well-tolerated. In this report, we present a case of subclavian steal syndrome with multiple cerebellar infarcts in a patient with an atypical right-sided aortic arch and an atretic aberrant left subclavian artery arising from a left-sided descending thoracic aorta.

  1. Reversible cerebral vasoconstriction syndrome: updates and new perspectives.

    PubMed

    Sheikh, Huma U; Mathew, Paul G

    2014-05-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is an important cause of headaches that can lead to other neurological complications, including stroke, if not recognized early. Over the past few years, there has been great progress in the recognition of this entity. However, there is still much to be learned about its pathophysiology and optimal treatment strategies. RCVS occurs mostly in middle-aged adults, and there is a female preponderance with an increased incidence during the postpartum period. A consistent, predominating feature is a sudden-onset, severe headache that is frequently recurrent, usually over the span of a week. Less common presentations include seizures or focal neurological symptoms. Important causative factors include vasoactive medications, as well as illicit drugs like marijuana and cocaine. The current underlying pathophysiology is thought to be a disturbance in cerebrovascular tone leading to vasoconstriction. The diagnosis is based on history, physical examination, and cerebrovascular imaging findings that demonstrate multifocal, segmental areas of vasoconstriction in large- and medium-sized arteries. An important criterion for making the diagnosis is the eventual reversibility of symptoms and imaging findings.

  2. Microcirculation Approach in HELLP Syndrome Complicated by Posterior Reversible Encephalopathy Syndrome and Massive Hepatic Infarction

    PubMed Central

    Sarmento, Stephanno Gomes Pereira; Santana, Eduardo Feliz Martins; Campanharo, Felipe Favorette; Machado, Flavia Ribeiro; Moron, Antonio Fernandes

    2014-01-01

    HELLP syndrome is a complication of severe forms of preeclampsia and occurs mainly in the third trimester of pregnancy. In extreme cases, it may evolve unfavorably and substantially increase maternal mortality. We present the case of an 18-year-old pregnant woman who was admitted to our emergency service in her 31st week, presenting with headache, visual disturbances, and epigastralgia, with progression to a severe condition of HELLP syndrome followed by posterior reversible encephalopathy syndrome (PRES) and hepatic infarction. We highlight the approach taken towards this patient and the case management, in which, in addition to the imaging examinations routinely available, we also used the sidestream dark field (SDF) technique to evaluate the systemic microcirculation. PMID:25485160

  3. The Complex Diagnostic Challenge in Children With Non-Central Nervous System Cancer and Cerebellar Mutism.

    PubMed

    Helton, Kathleen; Patterson, Amy L; Khan, Raja B; Sadighi, Zsila S

    2017-08-01

    Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical posterior reversible encephalopathy syndrome; and acute disseminated encephalomyelitis may all cause mutism in such patients. This condition warrants prompt recognition and may require treatment with immunotherapy, as it may be an immune-mediated process. We present 2 patients with leukemia and viral illness who developed cerebellar mutism in the setting of acute cerebellitis and responded to immunotherapy, suggesting that the condition involved a parainfectious immune-mediated response.

  4. Tumour type and size are high risk factors for the syndrome of "cerebellar" mutism and subsequent dysarthria

    PubMed Central

    Catsman-Berrevoet..., C.; Van Dongen, H. R; Mulder, P.; y, G; Paquier, P.; Lequin, M.

    1999-01-01

    OBJECTIVE—"Cerebellar mutis" and subsequent dysarthria (MSD) is a documented complication of posterior fossa surgery in children. In this prospective study the following risk factors for MSD were assessed: type, size and site of the tumour; hydrocephalus at presentation and after surgery, cerebellar incision site, postoperative infection, and cerebellar swelling.
METHODS—In a consecutive series of 42 children with a cerebellar tumour, speech and neuroradiological studies (CT and MRI) were systematically analysed preoperatively and postoperatively. Speech was assessed using the Mayo Clinic lists and the severity of dysarthria using the Michigan rating scale.
RESULTS—Twelve children (29%) developed MSD postoperatively. The type of tumour, midline localisation, and vermal incision were significant single independent risk factors. In addition, an interdependency of possible risk factors (tumour>5 cm, medulloblastoma) was found.
CONCLUSION—MSD often occurs after paediatric cerebellar tumour removal and is most likely after removal of a medulloblastoma with a maximum lesion diameter>5 cm.

 PMID:10567492

  5. Anti-Ri-associated paraneoplastic brainstem cerebellar syndrome with coexisting limbic encephalitis in a patient with mixed large cell neuroendocrine lung carcinoma.

    PubMed

    Mitchell, Amber N; Bakhos, Charles T; Zimmerman, Earl A

    2015-02-01

    Paraneoplastic neurologic syndromes (PNS) can be the first manifestations of occult malignancies. If left untreated, PNS often lead to significant morbidity and mortality. Anti-Ri (anti-neuronal nuclear antibody type 2 [ANNA-2]) autoantibodies are commonly associated with breast and small cell lung cancers. Cases of anti-Ri paraneoplastic cerebellar degeneration are reported, but few describe severe nausea and coexisting limbic encephalitis as the major presenting features. We report a 75-year-old woman with medically-intractable emesis, encephalopathy, diplopia, vertigo, and gait ataxia for 3 months. Examination revealed rotary nystagmus, ocular skew deviation, limb dysmetria, and gait ataxia. After two courses of intravenous immunoglobulin, there was minimal improvement. Anti-Ri antibodies were positive in serum only. CT scan identified a 2.0 cm left lung mass, and histopathology revealed large cell neuroendocrine carcinoma with admixed adenocarcinoma non-small cell lung carcinoma (NCSLC). Though the patient achieved nearly complete clinical recovery after tumor resection, anti-Ri levels remained high at 20 months post-resection. To our knowledge this is the first report of a paraneoplastic brainstem cerebellar syndrome with coexisting limbic encephalitis involving anti-Ri positivity and associated mixed neuroendocrine/NSCLC of the lung with marked improvement after tumor resection.

  6. Cerebral vasomotor reactivity in reversible cerebral vasoconstriction syndrome.

    PubMed

    Topcuoglu, Mehmet Akif; Chan, Suk-Tak; Silva, Gisele Sampaio; Smith, Eric Edward; Kwong, Kenneth K; Singhal, Aneesh Bhim

    2017-05-01

    Background Altered cerebrovascular tone is implicated in reversible cerebral vasoconstriction syndrome (RCVS). We evaluated vasomotor reactivity using bedside transcranial Doppler in RCVS patients. Methods In this retrospective case-control study, middle cerebral artery (MCA) blood flow velocities were compared at rest and in response to breath-hold in RCVS ( n = 8), Migraineurs ( n = 10), and non-headache Controls ( n = 10). Hyperventilation response was measured in RCVS. Results In RCVS, Breath Holding Index (BHI) was severely reduced in seven of eight patients and 14/16 MCAs; seven of 16 MCAs showed exhausted (BHI < 0.1) or inverted (BHI < 0) vasomotor reactivity. Mean BHI in RCVS (0.23 ± 0.5) was significantly lower than Migraine (1.52 ± 0.57) and Controls (1.51 ± 0.32), p < 0.001. Triphasic velocity responses were seen in all groups. The maximum Vmean decline during the middle negative phase was -15.5 ± 9.2% in RCVS, -15.4 ± 7% in Migraine, and -10.3 ± 5% in Controls ( p = 0.04). In the late positive phase, average Vmean increase was 6.2 ± 14% in RCVS, which was significantly lower ( p < 0.001) than Migraine (30.5 ± 11%) and Controls (30.2 ± 6%). With hyperventilation, RCVS patients showed 23% decrease in Vmean. Conclusion Cerebral arterial tone is abnormal in RCVS, with proximal vasoconstriction and abnormally reduced capacity for vasodilation. Further studies are needed to determine the utility of BHI to diagnose RCVS before angiographic reversibility is established, and to estimate prognosis.

  7. KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.

    PubMed

    Furio, Laetitia; Pampalakis, Georgios; Michael, Iacovos P; Nagy, Andras; Sotiropoulou, Georgia; Hovnanian, Alain

    2015-09-01

    Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 encoding the LEKTI serine protease inhibitor. LEKTI deficiency results in unopposed activities of kallikrein-related peptidases (KLKs) and aberrantly increased proteolysis in the epidermis. Spink5⁻/⁻ mice recapitulate the NS phenotype, display enhanced epidermal Klk5 and Klk7 protease activities and die within a few hours after birth because of a severe skin barrier defect. However the contribution of these various proteases in the physiopathology remains to be determined. In this study, we developed a new murine model in which Klk5 and Spink5 were both knocked out to assess whether Klk5 deletion is sufficient to reverse the NS phenotype in Spink5⁻/⁻ mice. By repeated intercrossing between Klk5⁻/⁻ mice with Spink5⁻/⁻ mice, we generated Spink5⁻/⁻Klk5⁻/⁻ animals. We showed that Klk5 knock-out in Lekti-deficient newborn mice rescues neonatal lethality, reverses the severe skin barrier defect, restores epidermal structure and prevents skin inflammation. Specifically, using in situ zymography and specific protease substrates, we showed that Klk5 knockout reduced epidermal proteolytic activity, particularly its downstream targets proteases KLK7, KLK14 and ELA2. By immunostaining, western blot, histology and electron microscopy analyses, we provide evidence that desmosomes and corneodesmosomes remain intact and that epidermal differentiation is restored in Spink5⁻/⁻Klk5⁻/⁻. Quantitative RT-PCR analyses and immunostainings revealed absence of inflammation and allergy in Spink5⁻/⁻Klk5⁻/⁻ skin. Notably, Il-1β, Il17A and Tslp levels were normalized. Our results provide in vivo evidence that KLK5 knockout is sufficient to reverse NS-like symptoms

  8. Reverse Genetics System for Severe Fever with Thrombocytopenia Syndrome Virus

    PubMed Central

    Brennan, Benjamin; Li, Ping; Zhang, Shuo; Li, Aqian; Liang, Mifang; Li, Dexin

    2014-01-01

    ABSTRACT Severe fever with thrombocytopenia syndrome virus (SFTSV) is an emerging tick-borne pathogen that was first reported in China in 2009. Phylogenetic analysis of the viral genome showed that SFTS virus represents a new lineage within the Phlebovirus genus, distinct from the existing sandfly fever and Uukuniemi virus groups, in the family Bunyaviridae. SFTS disease is characterized by gastrointestinal symptoms, chills, joint pain, myalgia, thrombocytopenia, leukocytopenia, and some hemorrhagic manifestations with a case fatality rate of about 2 to 15%. Here we report the development of reverse genetics systems to study STFSV replication and pathogenesis. We developed and optimized functional T7 polymerase-based M- and S-segment minigenome assays, which revealed errors in the published terminal sequences of the S segment of the Hubei 29 strain of SFTSV. We then generated recombinant viruses from cloned cDNAs prepared to the antigenomic RNAs both of the minimally passaged virus (HB29) and of a cell culture-adapted strain designated HB29pp. The growth properties, pattern of viral protein synthesis, and subcellular localization of viral N and NSs proteins of wild-type HB29pp (wtHB29pp) and recombinant HB29pp viruses were indistinguishable. We also show that the viruses fail to shut off host cell polypeptide production. The robust reverse genetics system described will be a valuable tool for the design of therapeutics and the development of killed and attenuated vaccines against this important emerging pathogen. IMPORTANCE SFTSV and related tick-borne phleboviruses such as Heartland virus are emerging viruses shown to cause severe disease in humans in the Far East and the United States, respectively. Study of these novel pathogens would be facilitated by technology to manipulate these viruses in a laboratory setting using reverse genetics. Here, we report the generation of infectious SFTSV from cDNA clones and demonstrate that the behavior of recombinant viruses

  9. [Reversible posterior leukoencephalopathy syndrome associated with carbamazepine-induced hypertension].

    PubMed

    Furuta, Natsumi; Fujita, Yukio; Sekine, Akiko; Ikeda, Masaki; Okamoto, Koichi

    2009-04-01

    A 21-year-old man developed idiopathic trigeminal neuralgia, and was admitted to our hospital. Although neuralgia was promptly resolved after oral carbamazepine (CBZ) administration, he developed arterial hypertension (from 110/60 mmHg to 170/126 mmHg) followed by consciousness disturbance several days after the initiation of carbamazepine. MRI T2-weighted, FLAIR and ADC images demonstrated transient hyperintense lesions of the bilateral fronto-parieto-occipital subcortical white matter. These lesions showed isointensity on diffusion-weighted images. Since these alterations suggested the presence of vasogenic edema induced by hypertension, we diagnosed him as having reversible posterior leukoencephalopathy syndrome (RPLS) induced by hypertension. Persistent hypertension despite the administration of various anti-hypertension drugs finally improved after oral CBZ therapy was discontinued. Therefore, we considered that hypertension was induced by oral CBZ therapy. This is a rare case in which high blood pressure was caused by CBZ. There is no previous report of RPLS induced by CBZ administration. Further investigation to determine whether CBZ is capable of causing arterial hypertension is warranted.

  10. Posterior reversible encephalopathy syndrome in a patient with lupus nephritis.

    PubMed

    Kadikoy, Huseyin; Haque, Waqar; Hoang, Vu; Maliakkal, Joseph; Nisbet, John; Abdellatif, Abdul

    2012-05-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by acute onset of headache, nausea, focal neurological deficits or seizures along with radiological findings of white matter defects in the parietal and occipital lobes. Causes of PRES include uremia, hypertensive encephalopathy, eclampsia and immunosuppressive medications. Usually, the treatment of choice involves correcting the underlying abnormality. We describe an unusual case of recurrent PRES caused by uremia during a lupus flare in a patient with biopsy-proven Class IV Lupus Nephritis (LN) with vasculitis. PRES in systemic lupus erythematosis (SLE) is a rare clinical phenomenon and, when reported, it is associated with hypertensive encephalopathy. Our patient did not have hypertensive crisis, but had uremic encephalopathy. The patient's PRES-related symptoms resolved after initiation of hemodialysis. The temporal correlation of the correction of the uremia and the resolution of the symptoms of PRES show the etiology to be uremic encephalopathy, making this the first reported case of uremia-induced PRES in Class IV LN with vasculitis.

  11. Reversed Robin Hood syndrome in acute ischemic stroke patients.

    PubMed

    Alexandrov, Andrei V; Sharma, Vijay K; Lao, Annabelle Y; Tsivgoulis, Georgios; Malkoff, Marc D; Alexandrov, Anne W

    2007-11-01

    Recurrent hemodynamic and neurological changes with persisting arterial occlusions may be attributable to cerebral blood flow steal from ischemic to nonaffected brain. Transcranial Doppler monitoring with voluntary breath-holding and serial NIH Stroke Scale (NIHSS) scores were obtained in patients with acute middle cerebral artery or internal carotid artery occlusions. The steal phenomenon was detected as transient, spontaneous, or vasodilatory stimuli-induced velocity reductions in affected arteries at the time of velocity increase in normal vessels. The steal magnitude (%) was calculated as [(MFVm-MFVb)/MFVb]x100, where m=minimum and b=baseline mean flow velocities (MFV) during the 15- to 30-second period of a total 30 second of breath-holding. Six patients had steal phenomenon on transcranial Doppler (53 to 73 years, NIHSS 4 to 15 points). Steal magnitude ranged from -15.0% to -43.2%. All patients also had recurrent neurological worsening (>2 points increase in NIHSS scores) at stable blood pressure. In 3 of 5 patients receiving noninvasive ventilatory correction for snoring/sleep apnea, no further velocity or NIHSS score changes were noted. Our descriptive study suggests possibility to detect and quantify the cerebral steal phenomenon in real-time. If the steal is confirmed as the cause of neurological worsening, reversed Robin Hood syndrome may identify a target group for testing blood pressure augmentation and noninvasive ventilatory correction in stroke patients.

  12. Posterior reversible encephalopathy syndrome (PRES) and hypomagnesemia: A frequent association?

    PubMed

    Chardain, A; Mesnage, V; Alamowitch, S; Bourdain, F; Crozier, S; Lenglet, T; Psimaras, D; Demeret, S; Graveleau, P; Hoang-Xuan, K; Levy, R

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a serious neurological condition encountered in various medical fields. Pathophysiological factor(s) common to PRES cases of apparently unrelated etiologies are yet to be found. Based on the hypothesis that hypomagnesemia might participate in the cascade leading to PRES, our study sought to verify whether hypomagnesemia is frequently associated with PRES regardless of etiology. From a retrospective study of a cohort of 57 patients presenting with PRES of different etiologies, presented here are the findings of 19 patients with available serum magnesium levels (SMLs) during PRES. In the acute phase of PRES, hypomagnesemia was present in all 19 patients in spite of differences in etiology (including immunosuppressive drugs, hypertensive encephalopathy, eclampsia, systemic lupus erythematosus, iatrogenic etiology and unknown). SMLs were within normal ranges prior to PRES and below normal ranges during the first 48h of PRES, with a significant decrease in SMLs during the acute phase. In this retrospective study, constant hypomagnesemia was observed during the acute phase of PRES regardless of its etiology. These results now require larger studies to assess the particular importance of acute hypomagnesemia in PRES and especially the possible need to treat PRES with magnesium sulfate.

  13. [Reversible cerebral vasoconstriction syndrome associated with stroke: three case reports].

    PubMed

    Ishi, Yukitomo; Sugiyama, Taku; Echizenya, Sumire; Yokoyama, Yuka; Asaoka, Katsuyuki; Itamoto, Koji

    2014-02-01

    Reversible cerebral vasoconstriction syndrome(RCVS)is characterized by severe headache and diffuse segmental constriction of cerebral arteries that resolves spontaneously within a few months. Although manifestations of stroke are not included in diagnostic criteria of RCVS, it is known that some cases may be associated with stroke, including intracerebral hemorrhage, subarachnoid hemorrhage, or cerebral infarction. We present three cases of RCVS associated with various types of stroke, and then review the literature. Case 1:A 49-year-old woman presented with a headache followed by left hemiparesis and dysarthria. One month before the onset, she was transfused for severe anemia caused by uterus myoma. CT images revealed intracerebral hemorrhages in the right putamen and right occipital lobe. Angiography revealed multiple segmental constrictions of the cerebral arteries. One month after the onset, these vasoconstrictions improved spontaneously. Case 2:A postpartum 38-year-old woman who had a history of migraine presented with thunderclap headache. Imaging revealed a focal subarachnoid hemorrhage in the right postcentral sulcus and segmental vasoconstriction of the right middle cerebral artery. One week after the onset, this vasoconstriction improved spontaneously. Case 3:A 32-year-old woman who had a history of migraine presented with headache followed by left homonymous hemianopsia. Imaging revealed a cerebral infarction of the right occipital lobe and multiple constrictions of the right posterior cerebral artery. These vasoconstrictions gradually improved spontaneously.

  14. Reversible dropped head syndrome after hemispheric striatal infarction.

    PubMed

    Funabe, Sayaka; Tanaka, Ryota; Hayashi, Akito; Yamashiro, Kazuo; Shimura, Hideki; Hattori, Nobutaka

    2014-04-01

    We report a rare case of transient "dropped head syndrome" (DHS) after acute ischemic stroke. A 64-year-old man noticed a sudden onset of mild weakness in his left hand and also difficulty in preventing his head from dropping onto his chest without weakness of the neck extensor muscles. Magnetic resonance images showed acute ischemic changes at the right putamen and caudate nucleus. Surface electromyography (EMG) performed 3 days after the stroke showed that both trapeziuses were hypertonic at rest, whereas the activity of the sternocleidomastoids was gradually increased on passive head lifting, indicating dystonia of the neck muscles. His dropped head fully improved by 9 days after the stroke. Re-examination by surface EMG 30 days after the stroke showed no hypertonic activity in the neck muscles. DHS is characterized by an abnormal ante-fixed posture of the neck, usually observed in patients with neurodegenerative disorders such as multiple system atrophy and Parkinson disease. This is the first case of reversible DHS after acute ischemic stroke, and the accumulation of similar cases will be important to elucidate the mechanisms underlying the development of DHS and stroke-associated movement disorders.

  15. Rare Case of Posterior Reversible Leukoencephalopathy Syndrome Secondary to Acute Chest Syndrome

    PubMed Central

    Klein, Daniel; El-Sherif, Yasir

    2016-01-01

    We present a case of 29/m with a history of sickle cell disease who presented to the emergency department with sudden onset of chest, trunk, extremity, and back pain, consistent in quality and severity with the patient's usual pain crises. Soon after admission to the medical unit for acute chest syndrome (ACS), the patient developed sudden onset of hypertension associated with left sided hemiplegia, lethargy, dysarthria, aphasia, and left sided facial droop. Neuroimaging revealed that on MRI Brain there was multifocal extensive signal abnormality and a small focal areas of hemorrhage compatible with posterior reversible leukoencephalopathy syndrome (PRES). Patient was treated with levetiracetam and phenytoin and improved soon afterwards, with resolution seen on follow-up MRI two months later. PMID:27957377

  16. Posterior Reversible Encephalopathy Syndrome in Henoch-Schonlein Purpura and Hemolytic Uremic Syndrome

    PubMed Central

    Fidan, Kibriya; Kandur, Yasar; Ucar, Murat; Gucuyener, Kivilcim; Soylemezoglu, Oguz

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome, composed of symptoms such as headache, seizures, visual disturbances, lethargy, confusion, stupor, focal neurologic findings and radiological findings of bilateral gray and white matter abnormalities suggestive of edema in the posterior regions of the cerebral hemispheres. PRES is associated with significant morbidity and mortality if it is not expeditiously recognized. Magnetic resonance image (MRI) represents the most sensitive imaging technique for recognizing PRES. PRES has been seen in various clinical settings including renal disorders such as acute glomerulonephritis, lupus nephritis, nephrotic syndrome, and drug usage such as calcineurin inhibitors. We aimed to present two study cases for such clinical setting. In this report, we present two patients with PRES in whom the primary diagnosis was hemolytic uremic syndrome (HUS) and Henoch-Schonlein purpura (HSP). Both of them were treated with anticonvulsant and proper antihypertensive drugs. A repeated MRI scan of the head, an ophthalmologic assessment, and a follow-up electroencephalogram produced normal results with no sequelae. Early recognition of PRES as a complication during different diseases and therapies in childhood may facilitate the appropriate treatment, so that intensive treatment should be performed as soon as possible to avoid neurological sequelae. PMID:27298664

  17. Posterior Reversible Encephalopathy Syndrome in Henoch-Schonlein Purpura and Hemolytic Uremic Syndrome.

    PubMed

    Fidan, Kibriya; Kandur, Yasar; Ucar, Murat; Gucuyener, Kivilcim; Soylemezoglu, Oguz

    2016-07-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome, composed of symptoms such as headache, seizures, visual disturbances, lethargy, confusion, stupor, focal neurologic findings and radiological findings of bilateral gray and white matter abnormalities suggestive of edema in the posterior regions of the cerebral hemispheres. PRES is associated with significant morbidity and mortality if it is not expeditiously recognized. Magnetic resonance image (MRI) represents the most sensitive imaging technique for recognizing PRES. PRES has been seen in various clinical settings including renal disorders such as acute glomerulonephritis, lupus nephritis, nephrotic syndrome, and drug usage such as calcineurin inhibitors. We aimed to present two study cases for such clinical setting. In this report, we present two patients with PRES in whom the primary diagnosis was hemolytic uremic syndrome (HUS) and Henoch-Schonlein purpura (HSP). Both of them were treated with anticonvulsant and proper antihypertensive drugs. A repeated MRI scan of the head, an ophthalmologic assessment, and a follow-up electroencephalogram produced normal results with no sequelae. Early recognition of PRES as a complication during different diseases and therapies in childhood may facilitate the appropriate treatment, so that intensive treatment should be performed as soon as possible to avoid neurological sequelae.

  18. [A case of cerebellar degeneration with schizophrenia-like psychosis, severe iron deficiency, hypoceruloplasminemia and abnormal electroretinography: a new syndrome?].

    PubMed

    Kimura, A; Yoshino, H; Yuasa, T

    2001-08-01

    A 33-year-old male patient began to develop schizophrenia-like symptoms and slowly progressive cerebellar ataxia. He was 170 cm tall and he had mild frontal baldness. Psychiatrically he was aconative, only willing to do nothing all day long after admission. He had neither hallucinations nor delusions, and his mental acuity was normal. Neurological examination revealed positive cerebellar signs including clumsiness in F-N-T and K-H-T and dysdiadochokinesis. He could neither stand up nor walk because of ataxia. The brain MRI showed severe cerebellar atrophy with normal basal ganglia. His EEG and the value of NCV were within normal range, whereas electroretinography showed a notable abnormality, pointing to the extremely small b-wave, resulting in a negative shape of the ERG. Although he was eating sufficiently, the level of serum iron and ferritin remained constantly low. The serum copper level was within normal range, whereas the serum ceruloplasmin level was mildly decreased. A hepatic biopsy indicated no accumulation of copper or iron. This case suggests the importance of the investigation of the serum iron and ceruloplasmin levels in patients who have cerebellar degeneration with psychosis.

  19. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

    PubMed

    Damerla, Rama Rao; Cui, Cheng; Gabriel, George C; Liu, Xiaoqin; Craige, Branch; Gibbs, Brian C; Francis, Richard; Li, You; Chatterjee, Bishwanath; San Agustin, Jovenal T; Eguether, Thibaut; Subramanian, Ramiah; Witman, George B; Michaud, Jacques L; Pazour, Gregory J; Lo, Cecilia W

    2015-07-15

    Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as a major cause of Joubert syndrome (JBTS), a ciliopathy associated with cerebellar abnormalities and other birth defects. Here we report the first Jbts17 mutant mouse model, Heart Under Glass (Hug), recovered from a forward genetic screen. Exome sequencing identified Hug as a S235P missense mutation in the mouse homolog of JBTS17 (2410089e03rik). Hug mutants exhibit multiple birth defects typical of ciliopathies, including skeletal dysplasia, polydactyly, craniofacial anomalies, kidney cysts and eye defects. Some Hug mutants exhibit congenital heart defects ranging from mild pulmonary stenosis to severe pulmonary atresia. Immunostaining showed JBTS17 is localized in the cilia transition zone. Fibroblasts from Hug mutant mice and a JBTS patient with a JBTS17 mutation showed ciliogenesis defects. Significantly, Hug mutant fibroblasts showed loss of not only JBTS17, but also NPHP1 and CEP290 from the cilia transition zone. Hug mutants exhibited reduced ciliation in the cerebellum. This was associated with reduction in cerebellar foliation. Using a fibroblast wound-healing assay, we showed Hug mutant cells cannot establish cell polarity required for directional cell migration. However, stereocilia patterning was grossly normal in the cochlea, indicating planar cell polarity is not markedly affected. Overall, we showed the JBTS pathophysiology is replicated in the Hug mutant mice harboring a Jbts17 mutation. Our findings demonstrate JBTS17 is a cilia transition zone component that acts upstream of other Joubert syndrome associated transition zone proteins NPHP1 and CEP290, indicating its importance in the pathogenesis of Joubert syndrome.

  20. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

    PubMed Central

    Damerla, Rama Rao; Cui, Cheng; Gabriel, George C.; Liu, Xiaoqin; Craige, Branch; Gibbs, Brian C.; Francis, Richard; Li, You; Chatterjee, Bishwanath; San Agustin, Jovenal T.; Eguether, Thibaut; Subramanian, Ramiah; Witman, George B.; Michaud, Jacques L.; Pazour, Gregory J.; Lo, Cecilia W.

    2015-01-01

    Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as a major cause of Joubert syndrome (JBTS), a ciliopathy associated with cerebellar abnormalities and other birth defects. Here we report the first Jbts17 mutant mouse model, Heart Under Glass (Hug), recovered from a forward genetic screen. Exome sequencing identified Hug as a S235P missense mutation in the mouse homolog of JBTS17 (2410089e03rik). Hug mutants exhibit multiple birth defects typical of ciliopathies, including skeletal dysplasia, polydactyly, craniofacial anomalies, kidney cysts and eye defects. Some Hug mutants exhibit congenital heart defects ranging from mild pulmonary stenosis to severe pulmonary atresia. Immunostaining showed JBTS17 is localized in the cilia transition zone. Fibroblasts from Hug mutant mice and a JBTS patient with a JBTS17 mutation showed ciliogenesis defects. Significantly, Hug mutant fibroblasts showed loss of not only JBTS17, but also NPHP1 and CEP290 from the cilia transition zone. Hug mutants exhibited reduced ciliation in the cerebellum. This was associated with reduction in cerebellar foliation. Using a fibroblast wound-healing assay, we showed Hug mutant cells cannot establish cell polarity required for directional cell migration. However, stereocilia patterning was grossly normal in the cochlea, indicating planar cell polarity is not markedly affected. Overall, we showed the JBTS pathophysiology is replicated in the Hug mutant mice harboring a Jbts17 mutation. Our findings demonstrate JBTS17 is a cilia transition zone component that acts upstream of other Joubert syndrome associated transition zone proteins NPHP1 and CEP290, indicating its importance in the pathogenesis of Joubert syndrome. PMID:25877302

  1. Posterior Reversible Encephalopathy Syndrome Occurring After Uterine Artery Embolization for Uterine Myoma

    SciTech Connect

    Suzuki, Satoshi Tanigawa, Noboru; Kariya, Syuji; Komemushi, Atsushi; Kojima, Hiroyuki; Tokuda, Takanori; Kishimoto, Masanobu; Tomino, Atsutoshi; Fujioka, Masayuki; Kitazawa, Yasuhide; Sawada, Satoshi

    2011-02-15

    This case report describes posterior reversible encephalopathy syndrome (PRES) occurring after uterine artery embolization (UAE) for uterine myoma. This is the first report of PRES occurring after uterine vascular radiologic intervention. The mechanism by which UAE induced PRES is unclear.

  2. Reversible cerebral vasoconstriction syndrome in the context of recent cerebral venous thrombosis: Report of a case.

    PubMed

    Bourvis, Nadège; Franc, Julie; Szatmary, Zoltan; Chabriat, Hugues; Crassard, Isabelle; Ducros, Anne

    2016-01-01

    Reversible cerebral constriction syndrome and cerebral venous thrombosis are two rare conditions. Reversible cerebral constriction syndrome affects the cerebral arteries and the pathology is still largely unknown. To date, no physiological link with cerebral venous thrombosis has been reported. We report here the case of a 24-year-old woman who presented a reversible cerebral constriction syndrome in the setting of a cerebral venous thrombosis. Cerebral venous thrombosis had developed in her left lateral venous sinus, within the stent placed one year before, in order to treat an idiopathic intracranial hypertension. The co-occurrence of cerebral venous thrombosis and reversible cerebral constriction syndrome in the same patient raises the issue of a potential link between them. We discuss the potential common trigger factors in this case: recent hormonal therapy; intracranial hypotension iatrogenically induced by lumbar puncture. © International Headache Society 2015.

  3. Determinants of Recovery from Severe Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Legriel, Stephane; Schraub, Olivier; Azoulay, Elie; Hantson, Philippe; Magalhaes, Eric; Coquet, Isaline; Bretonniere, Cedric; Gilhodes, Olivier; Anguel, Nadia; Megarbane, Bruno; Benayoun, Laurent; Schnell, David; Plantefeve, Gaetan; Charpentier, Julien; Argaud, Laurent; Mourvillier, Bruno; Galbois, Arnaud; Chalumeau-Lemoine, Ludivine; Rivoal, Michel; Durand, François; Geffroy, Arnaud; Simon, Marc; Stoclin, Annabelle; Pallot, Jean-Louis; Arbelot, Charlotte; Nyunga, Martine; Lesieur, Olivier; Troché, Gilles; Bruneel, Fabrice; Cordoliani, Yves-Sébastien; Bedos, Jean-Pierre; Pico, Fernando

    2012-01-01

    Objective Few outcome data are available about posterior reversible encephalopathy syndrome (PRES). We studied 90-day functional outcomes and their determinants in patients with severe PRES. Design 70 patients with severe PRES admitted to 24 ICUs in 2001–2010 were included in a retrospective cohort study. The main outcome measure was a Glasgow Outcome Scale (GOS) of 5 (good recovery) on day 90. Main Results Consciousness impairment was the most common clinical sign, occurring in 66 (94%) patients. Clinical seizures occurred in 57 (81%) patients. Median mean arterial pressure was 122 (105–143) mmHg on scene. Cerebral imaging abnormalities were bilateral (93%) and predominated in the parietal (93%) and occipital (86%) white matter. Median number of brain areas involved was 4 (3–5). Imaging abnormalities resolved in 43 (88%) patients. Ischaemic and/or haemorrhagic complications occurred in 7 (14%) patients. The most common causes were drug toxicity (44%) and hypertensive encephalopathy (41%). On day 90, 11 (16%) patients had died, 26 (37%) had marked functional impairments (GOS, 2 to 4), and 33 (56%) had a good recovery (GOS, 5). Factors independently associated with GOS<5 were highest glycaemia on day 1 (OR, 1.22; 95%CI, 1.02–1.45, p = 0.03) and time to causative-factor control (OR, 3.3; 95%CI, 1.04–10.46, p = 0.04), whereas GOS = 5 was associated with toxaemia of pregnancy (preeclampsia/eclampsia) (OR, 0.06; 95%CI, 0.01–0.38, p = 0.003). Conclusions By day 90 after admission for severe PRES, 44% of survivors had severe functional impairments. Highest glycaemia on day 1 and time to causative-factor control were strong early predictors of outcomes, suggesting areas for improvement. PMID:23024751

  4. Development of epilepsy after posterior reversible encephalopathy syndrome.

    PubMed

    Heo, Kyoung; Cho, Kyoo Ho; Lee, Moon Kyu; Chung, Su Jin; Cho, Yang-Je; Lee, Byung In

    2016-01-01

    This study was intended to describe the risk of epilepsy subsequent to posterior reversible encephalopathy syndrome (PRES) and the clinical features of post-PRES epilepsy. We retrospectively identified all patients with PRES who were admitted to Severance Hospital and consulted with the Department of Neurology between 2001 and 2013 and the subgroup of these patients who subsequently developed epilepsy. We also describe clinical features of patients who were not treated with PRES as inpatients at our center but who presented later with post-PRES epilepsy during the study period. We studied clinical characteristics during the acute symptomatic phase of PRES and after the development of epilepsy. During the study period 102 patients were treated at our center during the acute phase of PRES. Four of these patients (3.9%) subsequently developed epilepsy. Two additional patients with a history of PRES presented to our hospital after the acute phase of their illness with post-PRES epilepsy. During the acute phase, five of six patients had acute symptomatic seizures and four had convulsive or nonconvulsive status epilepticus (SE). Acute phase MRI showed cytotoxic edema in five patients, and follow-up MRI showed focal atrophic changes including hippocampal sclerosis in four. Presumptive epileptogenic foci were located in the left-side temporal, parietal and occipital lobes, corresponding to the regions that showed cytotoxic edema or severe vasogenic edema as well as with the location or lateralization of EEG abnormalities during the acute phase. Our findings indicate a small but not insignificant risk for the development of epilepsy after PRES. The presence of cytotoxic edema and severe, acute symptomatic seizures, such as SE suggests irreversible brain damage and may predict the development of epilepsy. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  5. Management and outcomes of malignant posterior reversible encephalopathy syndrome.

    PubMed

    Akins, Paul T; Axelrod, Yekaterina; Silverthorn, James W; Guppy, Kern; Banerjee, Amit; Hawk, Mark W

    2014-10-01

    Recognition of severe forms of posterior reversible encephalopathy syndrome (PRES) has improved. Management of these patients remains challenging, particularly in patients with the combination of edema and hemorrhage. A prospective inpatient neuro-intensive care database was queried for patients with PRES. Malignant PRES was diagnosed by clinical assessments (GCS less than 8 and clinical decline despite standard medical management for elevated intracranial pressure) and radiographic criteria (edema with associated mass effect; brain hemorrhage exerting mass effect; effacement of basal cisterns, transtentorial, tonsillar, or uncal herniation). Malignant PRES was defined as: radiology studies consistent with PRES; GCS less than 8; and clinical decline despite standard elevated intracranial pressure management. Five cases were identified over a 4 year interval. The following contributing conditions were also present: chemotherapy (1), systemic lupus erythematosis (2), pregnancy (1), and methamphetamines (1). Neurocritical care interventions included: hyperosmolar therapy (5), anticonvulsants (5), management of coagulopathy (5), and ventilatory support (5). Neurosurgical interventions included: craniectomy (5), hematoma evacuation (3), and external ventricular drain (4). Brain biopsy was performed in 5 patients and was negative for vasculitis, demyelinating disease, tumor, or infection. Cyclophosphamide was administered to the two patients with SLE. With long-term follow up, all patients achieved good functional outcomes (modified Rankin score 1-2). In contrast to historical reports of high mortality rates (16-29%) for severe and hemorrhagic PRES variants, we had no fatalities and observed favorable functional outcomes with intracranial pressure monitoring and craniectomy for malignant PRES cases who fail medical ICP management. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Posterior reversible encephalopathy syndrome secondary to blood transfusion.

    PubMed

    Singh, Karanbir; Gupta, Rajesh; Kamal, Haris; Silvestri, Nicholas J; Wolfe, Gil I

    2015-03-01

    The appearance of posterior reversible encephalopathy syndrome (PRES) after blood transfusion is rare and has only been reported in three patients to our knowledge. We report a fourth patient with PRES secondary to blood transfusion. A 36-year-old woman with a history of menorrhagia presented to the emergency department with severe fatigue. She had a hemoglobin of 1.7 g/dl and received four units of red blood cells over 15 hours. On day 6 post-transfusion she returned with confusion, headache and a generalized tonic-clonic seizure. The MRI of her brain was consistent with PRES. The following day her confusion worsened, repeat MRI of the brain showed new T2-weighted lesions. Over next 10 days her mental status gradually improved close to her baseline. A repeat MRI of the brain showed resolution of the T2-weighted lesions. The clinical presentation, radiological findings and disease progression in our patient was consistent with PRES. Other than the blood transfusions, there were no apparent risk factors for PRES. The prior three patients with post-transfusion PRES have been reported in middle-aged women with uterine fibroids. It is suspected that these patients have a subacute to chronic anemic state due to ongoing menorrhagia. It is interesting to note that no cases of PRES post-transfusion have been reported in the setting of acute blood loss, such as from trauma. It is postulated that an abrupt increase in hemoglobin causes a rapid rise in blood viscosity and loss of hypoxic vasodilation. Subsequent endothelial damage and brain capillary leakage results in PRES. This constellation of changes may not occur after transfusion in patients with more acute blood loss.

  7. Hemorrhage in posterior reversible encephalopathy syndrome: imaging and clinical features.

    PubMed

    Hefzy, H M; Bartynski, W S; Boardman, J F; Lacomis, D

    2009-08-01

    Hemorrhage is known to occur in posterior reversible encephalopathy syndrome (PRES), but the characteristics have not been analyzed in detail. The purpose of this study was to evaluate the imaging and clinical features of hemorrhage in PRES. Retrospective assessment of 151 patients with PRES was performed, and 23 patients were identified who had intracranial hemorrhage at toxicity. Hemorrhage types were identified and tabulated, including minute focal hemorrhages (<5 mm), sulcal subarachnoid hemorrhage, and focal hematoma. Clinical features of hemorrhage and nonhemorrhage PRES groups were evaluated, including toxicity blood pressure, coagulation profile/platelet counts, coagulation-altering medication, and clinical conditions associated with PRES. Toxicity mean arterial pressure (MAP) groups were defined as normal (<106 mm Hg), mildly hypertensive (106-116 mm Hg), or severely hypertensive (>116 mm Hg). The overall incidence of hemorrhage was 15.2%, with borderline statistical significance noted between the observed clinical associations (P = .07). Hemorrhage was significantly more common (P = .02) after allogeneic bone marrow transplantation (allo-BMT) than after solid-organ transplantation. The 3 hemorrhage types were noted with equal frequency. A single hemorrhage type was found in 16 patients, with multiple types noted in 7. Patients undergoing therapeutic anticoagulation were statistically more likely to develop hemorrhage (P = .04). No difference in hemorrhage incidence was found among the 3 blood pressure subgroups (range, 14.9%-15.9%). Three distinct types of hemorrhage (minute hemorrhage, sulcal subarachnoid hemorrhage, hematoma) were identified in PRES with equal frequency. The greatest hemorrhage frequency was seen after allo-BMT and in patients undergoing therapeutic anticoagulation. Hemorrhage rate was independent of the toxicity blood pressure.

  8. Hemorrhagic Reversible Cerebral Vasoconstriction Syndrome: Features and Mechanisms.

    PubMed

    Topcuoglu, Mehmet A; Singhal, Aneesh B

    2016-07-01

    To compare hemorrhagic and nonhemorrhagic reversible cerebral vasoconstriction syndromes (RCVS) with a view to understand mechanisms. This single-center retrospective study included 162 patients with RCVS. Clinical, brain imaging, and angiography data were analyzed. The mean age was 44±13 years, 78% women. Hemorrhages occurred in 43% including 21 patients with intracerebral hemorrhage (ICH) and 62 with convexal subarachnoid hemorrhage (cSAH). The frequency of triggers (eg, vasoconstrictive drugs) and risk factors (eg, migraine) were not significantly different between hemorrhagic and nonhemorrhagic RCVS or between subgroups (ICH versus non-ICH, isolated cSAH versus normal scan). Hemorrhagic lesions occurred within the first week, whereas infarcts and vasogenic edema accumulated during 2 to 3 weeks (P<0.001). Although all ICHs occurred before cSAH, their time course was not significantly different (P=0.11). ICH and cSAH occurred earlier than infarcts (P≤0.001), and ICH earlier than vasogenic edema (P=0.009). Angiogram analysis showed more severe vasoconstriction in distal versus proximal segments in all lesion types (ICH, cSAH, infarction, vasogenic edema, and normal scan). The isolated infarction group had more severe proximal vasoconstriction, and those with normal imaging had significantly less vasoconstriction. Multivariable analysis failed to uncover independent predictors of hemorrhagic RCVS; however, female sex predicted ICH (P=0.048), and angiographic severity predicted infarction (P=0.043). ICH and cSAH are common complications of RCVS. Triggers and risk factors do not predict lesion subtype but may alter central vasomotor control mechanisms resulting in centripetal angiographic evolution. Early distal vasoconstriction is associated with lobar ICH and cSAH, and delayed proximal vasoconstriction with infarction. © 2016 American Heart Association, Inc.

  9. Reduced circulating endothelial progenitor cells in reversible cerebral vasoconstriction syndrome.

    PubMed

    Chen, Shih-Pin; Wang, Yen-Feng; Huang, Po-Hsun; Chi, Chin-Wen; Fuh, Jong-Ling; Wang, Shuu-Jiun

    2014-12-02

    The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) remains elusive. Endothelial dysfunction might play a role, but direct evidence is lacking. This study aimed to explore whether patients with RCVS have a reduced level of circulating circulating endothelial progenitor cells (EPCs) to repair the dysfunctional endothelial vasomotor control. We prospectively recruited 24 patients with RCVS within one month of disease onset and 24 healthy age- and sex-matched controls. Flow cytometry was used to quantify the numbers of circulating EPCs, defined as KDR+CD133+, CD34+CD133+, and CD34+KDR+ double-positive mononuclear cells. The Lindegaard index, an index of vasoconstriction, was calculated by measuring the mean flow velocity of middle cerebral arteries and distal extracranial internal carotid arteries via color-coded sonography on the same day as blood drawing. A Lindegaard index of 2 was chosen as the cutoff value for significant vasoconstriction of middle cerebral arteries based on our previous study. Patients with RCVS had a reduced number of CD34+KDR+ cells (0.009 ± 0.006% vs. 0.014 ± 0.010%, p = 0.031) but not KDR+CD133+ cells or CD34+CD133+ EPCs, in comparison with controls. The number of CD34+KDR+ cells was inversely correlated with the Lindegaard index (rs = -0.418, p = 0.047). Of note, compared to controls, patients with a Lindegaard index > 2 (n = 13) had a reduced number of CD34+KDR+ cells (0.007 ± 0.005% vs. 0.014 ± 0.010%, p = 0.010), but those with a Lindegaard index ≤ 2 did not. Patients with RCVS had reduced circulating CD34+KDR+ EPCs, which were correlated with the severity of vasoconstriction. Endothelial dysfunction might contribute to the pathogenesis of RCVS.

  10. Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

    PubMed

    Coffino, Samantha W; Fryer, Robert H

    2017-06-01

    Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

  11. Post-streptococcal glomerulonephritis leading to posterior reversible encephalopathy syndrome: a case report.

    PubMed

    Adikari, Madura; Priyangika, Dilani; Marasingha, Indika; Thamotheram, Sharmila; Premawansa, Gayani

    2014-09-13

    Posterior reversible encephalopathy syndrome is a clinical radiographic syndrome of heterogeneous etiologies. Developing hypertensive encephalopathy following post-streptococcal glomerulonephritis is a known but uncommon manifestation and developing posterior reversible encephalopathy syndrome in such a situation is very rare. We report a case with contrast-enhanced computed tomography and magnetic resonance imaging findings of posterior reversible encephalopathy syndrome in the background of acute post-streptococcal glomerulonephritis. A thirteen-year-old Sri Lankan boy presented with a focal fit by way of secondary generalization with duration of 10 minutes, and developed 2 similar fits subsequently following admission. He later developed severe hypertension with evidence of glomerulonephritis, which was diagnosed as acute post-streptococcal glomerulonephritis. A contrast-enhanced computed tomography imaging of brain done on day-3 revealed non-enhancing low-attenuating areas in fronto-parietal regions. A T2 weighted film of magnetic resonance imaging was done on day-10 of the admission and found to have linier sub-cortical hyper intensities in both parietal regions which were compatible with the radiological diagnosis of posterior reversible encephalopathy syndrome. Post-streptococcal glomerulonephritis is an important cause of acute nephritic syndrome especially in children. This case report illustrates a rare association of posterior reversible encephalopathy syndrome in a patient with post-streptococcal glomerulonephritis.

  12. Normalization of reverse redistribution of thallium-201 with procainamide pretreatment in Wolff-Parkinson-White syndrome

    SciTech Connect

    Nii, T.; Nakashima, Y.; Nomoto, J.; Hiroki, T.; Ohshima, F.; Arakawa, K. )

    1991-03-01

    Stress thallium-201 myocardial perfusion imaging was performed in a patient with Wolff-Parkinson-White syndrome. Reverse redistribution phenomenon was observed in the absence of coronary artery disease. This seems to be the first report of normalization of this phenomenon in association with reversion of accessory pathway to normal atrioventricular conduction after pretreatment with procainamide.

  13. Postinfectious Opsoclonus-Myoclonus Syndrome in a 41-Year-Old Patient-Visualizing Hyperactivation in Deep Cerebellar Nuclei by Cerebral [(18) F]-FDG- PET.

    PubMed

    Mustafa, Mona; Levin, Johannes; Schöberl, Florian; Rominger, Axel

    2015-01-01

    A 41-year-old woman presented with acute onset headache, vertigo, nausea, and gait disorder, initially interpreted as a common cold. Within 2 weeks, she developed a severe opsoclonus-myoclonus syndrome with truncal ataxia. Cerebrospinal fluid examination and serological findings suggested a recent infection with Coxsackie B3 virus. [(18) F]-FDG-PET proved to be the only imaging tool to identify the underlying pathology depicting hyperactivation in the vestibulo- and spinocerebellum as well as hyperactivation of the ocular muscles. At the clinical follow-up 4 months later, the patient's symptoms were considerably improved with only intermittent low-frequency opsoclonus. Corresponding PET findings were able to depict the response to therapy in the ocular muscles and the inferior vermis, whereas the deep cerebellar nuclei were still hyperactivated, however, to a lesser extent. This finding highlights the usefulness of functional/metabolic brain imaging to study the pathophysiology of this type of disorder.

  14. Incidence of posterior reversible encephalopathy syndrome in eclamptic and patients with preeclampsia with neurologic symptoms.

    PubMed

    Mayama, Michinori; Uno, Kaname; Tano, Sho; Yoshihara, Masato; Ukai, Mayu; Kishigami, Yasuyuki; Ito, Yasuhiro; Oguchi, Hidenori

    2016-08-01

    Posterior reversible encephalopathy syndrome is observed frequently in patients with eclampsia; however, it has also been reported in some patients with preeclampsia. The aim of this study was to determine the incidence of posterior reversible encephalopathy syndrome in patients with preeclampsia and eclampsia and to assess whether these 2 patient groups share similar pathophysiologic backgrounds by comparing clinical and radiologic characteristics. This was a retrospective cohort study of 4849 pregnant patients. A total of 49 patients with eclampsia and preeclampsia and with neurologic symptoms underwent magnetic resonance imaging and magnetic resonance angiography; 10 patients were excluded from further analysis because of a history of epilepsy or dissociative disorder. The age, parity, blood pressure, and routine laboratory data at the onset of symptoms were also recorded. Among 39 patients with neurologic symptoms, 12 of 13 patients with eclampsia (92.3%) and 5 of 26 patients with preeclampsia (19.2%) experienced the development of posterior reversible encephalopathy syndrome. Whereas age and blood pressure at onset were not significantly different between patients with and without encephalopathy, hematocrit, serum creatinine, aspartate transaminase, alanine transaminase, and lactate dehydrogenase values were significantly higher in patients with posterior reversible encephalopathy syndrome than in those without magnetic resonance imaging abnormalities. In contrast, patients with eclampsia with posterior reversible encephalopathy syndrome did not show any significant differences in clinical and laboratory data compared with patients with preeclampsia with posterior reversible encephalopathy syndrome. In addition to the parietooccipital regions, atypical regions (such as the frontal and temporal lobes), and basal ganglia were also involved in patients with eclampsia and patients with preeclampsia with posterior reversible encephalopathy syndrome. Finally

  15. Reduced circulating endothelial progenitor cells in reversible cerebral vasoconstriction syndrome

    PubMed Central

    2014-01-01

    Background The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) remains elusive. Endothelial dysfunction might play a role, but direct evidence is lacking. This study aimed to explore whether patients with RCVS have a reduced level of circulating circulating endothelial progenitor cells (EPCs) to repair the dysfunctional endothelial vasomotor control. Methods We prospectively recruited 24 patients with RCVS within one month of disease onset and 24 healthy age- and sex-matched controls. Flow cytometry was used to quantify the numbers of circulating EPCs, defined as KDR+CD133+, CD34+CD133+, and CD34+KDR+ double-positive mononuclear cells. The Lindegaard index, an index of vasoconstriction, was calculated by measuring the mean flow velocity of middle cerebral arteries and distal extracranial internal carotid arteries via color-coded sonography on the same day as blood drawing. A Lindegaard index of 2 was chosen as the cutoff value for significant vasoconstriction of middle cerebral arteries based on our previous study. Results Patients with RCVS had a reduced number of CD34+KDR+ cells (0.009 ± 0.006% vs. 0.014 ± 0.010%, p = 0.031) but not KDR+CD133+ cells or CD34+CD133+ EPCs, in comparison with controls. The number of CD34+KDR+ cells was inversely correlated with the Lindegaard index (rs = -0.418, p = 0.047). Of note, compared to controls, patients with a Lindegaard index > 2 (n = 13) had a reduced number of CD34+KDR+ cells (0.007 ± 0.005% vs. 0.014 ± 0.010%, p = 0.010), but those with a Lindegaard index ≤ 2 did not. Conclusions Patients with RCVS had reduced circulating CD34+KDR+ EPCs, which were correlated with the severity of vasoconstriction. Endothelial dysfunction might contribute to the pathogenesis of RCVS. PMID:25466718

  16. Posterior Reversible Encephalopathy Syndrome in a Postpartum Preeclamptic Woman without Seizure

    PubMed Central

    Ural, Ülkü Mete; Balik, Gülsah; Şentürk, Şenol; Üstüner, Işık; Çobanoğlu, Uğur; Şahin, Figen Kır

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity presenting with headache, confusion, visual disturbances or blindness, and seizures. Parieto-occipital white matter changes due to vasogenic oedema can be observed on imaging modalities. It rarely occurs without seizures and after delivery. We report a 33-year-old multigravida with a history of preeclampsia in term pregnancy complicated by PRES without seizures at the postpartum period. Clinical improvement with complete resolution without any complications was observed on the 6th day after delivery. Posterior reversible encephalopathy syndrome is reversible when early diagnosis is established and appropriate treatment is started without delay. PMID:24592342

  17. Posterior Reversible Encephalopathy Syndrome in a Bone Marrow Transplant Patient: A Complication of Immunosuppressive Drugs?

    PubMed

    Hossain, Mohammad A; Jehangir, Waqas; Nai, Qiang; Jessani, Naureen; Khan, Rafay; Yousif, Abdalla; Sen, Shuvendu

    2015-08-01

    Posterior reversible encephalopathy is a complex but well-recognized clinical and radiological entity associated with a variety of benign and malignant conditions including hypertensive encephalopathy, eclampsia, renal failure and immunosuppressive drugs. The pathogenesis is incompletely understood, although it seems to be related to the breakthrough of auto-regulation and endothelial dysfunction. The clinical syndromes typically involve headache, altered mental status, seizures, visual disturbance and other focal neurological signs and radiographically reversible vasogenic subcortical edema without infarction. Here, we report a case of posterior reversible encephalopathy syndrome in a patient with chronic myeloid leukemia who received allogenic bone marrow transplantation (allo-BMT) and immunosuppressive drugs.

  18. [Reversible cerebral vasoconstriction syndrome: an important cause of stroke in the puerperium].

    PubMed

    Rodrigues, Tiago; Loureiro, Rui; Samões, Raquel; Alves, Viriato; Ramos, Cristina; Correia, Carlos

    2014-01-01

    Reversible cerebral vasoconstriction syndrome is a rare cerebrovascular disorder characterized by cerebral arterial segmental vasoconstriction, usually spontaneously reversible. This disease can occur in the postpartum period, manifesting itself through acute neurologic symptoms, and the imaging studies play a fundamental role in its diagnosis. Although classically considered a benign and self-limiting disease, it may present less favorable courses with significant associated morbidity and mortality. We describe a case of reversible cerebral vasoconstriction syndrome in the puerperium, with progressive cerebral vasospasm causing ischemic and hemorrhagic strokes. We intend to make an alert to the potential complications of this entity that demand intense clinical and imaging surveillance.

  19. Posterior Reversible Encephalopathy Syndrome in a Postpartum Preeclamptic Woman without Seizure.

    PubMed

    Ural, Ulkü Mete; Balik, Gülsah; Sentürk, Senol; Ustüner, Işık; Cobanoğlu, Uğur; Sahin, Figen Kır

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity presenting with headache, confusion, visual disturbances or blindness, and seizures. Parieto-occipital white matter changes due to vasogenic oedema can be observed on imaging modalities. It rarely occurs without seizures and after delivery. We report a 33-year-old multigravida with a history of preeclampsia in term pregnancy complicated by PRES without seizures at the postpartum period. Clinical improvement with complete resolution without any complications was observed on the 6th day after delivery. Posterior reversible encephalopathy syndrome is reversible when early diagnosis is established and appropriate treatment is started without delay.

  20. Reversible vasoconstriction syndrome involving the basilar artery in an adolescent: imaging and clinical features.

    PubMed

    Guerriero, Réjean M; Rivkin, Michael J

    2015-06-01

    Reversible cerebral vasoconstriction syndrome is characterized by recurrent episodes of "thunderclap headache" and by transient, multifocal vasoconstriction of cerebral vasculature. Here we present an adolescent boy whose clinical features fit the diagnostic criteria and whose neurovascular imaging revealed reversible vasoconstriction of the basilar artery alone. A previously healthy 14-year-old boy presented with repeated severe sudden thunderclap headaches following exercise. These symptoms were accompanied by isolated basilar artery stenosis. Reversible cerebral vasoconstriction syndrome is a condition with several clinical triggers. Its pathophysiology is poorly understood. This patient adds to a broadening spectrum of clinical features of this disorder. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Khat - a new precipitating factor for reversible cerebral vasoconstriction syndrome: a case report.

    PubMed

    Baharith, Harith; Zarrin, Amy

    2016-12-15

    Postpartum reversible cerebral vasoconstriction syndrome is one of the rare reversible cerebral vasoconstriction syndromes. The clinical presentation is usually characterized by recurrent headache, focal neurological deficit, and reversible cerebral vasoconstriction seen on cerebral angiography. We report a case of a 35-year-old Yemeni woman who presented with headache and focal neurological deficits that occurred 10 days after delivery, with segmental narrowing of cerebral arteries on angiography. She had significant clinical and radiological improvement on follow-up. The presentation of our patient's reversible cerebral vasoconstriction syndrome is unusual as she has two possible precipitating factors. In addition to being in the postpartum state, she also has a long history of chewing khat, a vasoactive substance commonly used by immigrants from Yemen. We hope that this case report will increase awareness among physicians about the use of this plant by immigrants from the horn of Africa and Yemen.

  2. Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findings.

    PubMed

    Ishikura, Kenji; Ikeda, Masahiro; Hamasaki, Yuko; Hataya, Hiroshi; Shishido, Seiichirou; Asanuma, Hiroshi; Nishimura, Gen; Hiramoto, Ryugo; Honda, Masataka

    2006-08-01

    Posterior reversible encephalopathy syndrome is a distinctive clinicoradiological entity observed in a variety of clinical settings, including pediatric patients. A greater prevalence of this syndrome has been suggested in kidney transplant recipients and patients with kidney disease. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. The objective of the present study involved disclosing details of imaging findings, as well as the clinical course and prevalence of the syndrome in this field. We investigated kidney transplant recipients and pediatric patients with kidney disease in our institution from 1990 to 2004. For these patients, clinical course, imaging findings, blood pressure, concurrent medical illnesses, and administrative condition of calcineurin inhibitors were analyzed. Twenty cases of posterior reversible encephalopathy syndrome were investigated in patients ranging in age from 1.9 to 18.3 years. In most patients, radiological abnormalities extended to the gray matter (17 of 20 patients), frontal and temporal lobes, and even the cerebellum (16 patients). Of 177 kidney transplant recipients (cyclosporine, 127 patients; tacrolimus, 50 patients), 6 patients administered cyclosporine (4.7%) and 4 patients administered tacrolimus (8.0%) developed the syndrome after transplantation. Posterior reversible encephalopathy syndrome should be suspected in pediatric kidney transplant recipients and patients with kidney disease if they have a sudden episode of neurological symptoms, even if imaging findings are not restricted to the subcortical white matter of the occipital region.

  3. Elevated B-cell activating factor BAFF, but not APRIL, correlates with CSF cerebellar autoantibodies in pediatric opsoclonus-myoclonus syndrome.

    PubMed

    Fühlhuber, V; Bick, S; Kirsten, A; Hahn, A; Gerriets, T; Tschernatsch, M; Kaps, M; Preissner, K T; Blaes, F; Altenkämper, S

    2009-05-29

    Childhood opsoclonus-myoclonus syndrome (OMS) occurs idiopathic or, in association with a neuroblastoma, as a paraneoplastic syndrome. Since autoantibodies were identified in some patients, an autoimmune pathogenesis has been suspected. While the newly discovered B-cell activating factors BAFF and APRIL are involved in systemic autoimmune diseases, their association with neuroimmunological diseases is hardly understood. We here investigated the BAFF and APRIL levels in serum and cerebrospinal fluid (CSF) of OMS patients and their correlation with surface-binding autoantibodies. BAFF and APRIL were both determined by ELISA, and autoantibodies to cerebellar granular neurons (CGN) have been investigated by flow cytometry in 17 OMS patients, 16 neuroblastoma (NB) patients, 13 controls and 11 children with inflammatory neurological diseases (IND). BAFF, but no APRIL, was elevated in the CSF of OMS children and IND children. However, in contrast to IND patients, OMS patients did not have a blood-brain-barrier disturbance, indicating that BAFF was produced intrathecally in OMS patients, but not in IND patients. CSF BAFF levels showed a correlation with CSF CGN autoantibodies (r(2)=0.58, p<0.05). These data indicate that an activated B-cell system in the cerebrospinal fluid is involved in the pathogenesis of OMS, and BAFF may be a candidate parameter for the activation of B-cell immune system.

  4. Neurosteroids Reverse Tonic Inhibition Deficits in Fragile X Syndrome

    DTIC Science & Technology

    2016-08-01

    Appendices……………………………………………………………11 2 1. Introduction Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. In addition...pathophysiology of ASDs, we measured S408/9 phosphorylation in Fmr1 KO mice, a model of fragile X syndrome, the most common monogenetic cause of ASDs...Behavior. ASDs have a common core of behavioral deficits, including reduced social interaction and increased repetitive behavior. Therefore, we assessed if

  5. Reversible cerebral vasoconstriction syndrome: a rare entity in children presenting with thunderclap headache.

    PubMed

    Ghosh, Partha S; Rothner, A David; Zahka, Kenneth G; Friedman, Neil R

    2011-12-01

    Reversible cerebral vasoconstriction syndrome is characterized by a reversible segmental and multifocal vasoconstriction of cerebral arteries, and severe headaches with or without focal neurologic deficits or seizures. A 15-year-old boy presented with thunderclap headache. He had severe hypertension, although his neurologic examination was normal. Initial workup for thunderclap headache to exclude subarachnoid or intracranial hemorrhage, meningitis, pituitary apoplexy, or venous sinus thrombosis was negative. Brain magnetic resonance angiography and cerebral angiography demonstrated bilateral anterior and posterior circulation diffuse, multifocal, vascular irregularities (beading and stenosis) suggestive of underlying vasculopathy or vasculitis. He was started on verapamil. There was complete reversal of the vascular abnormalities in 6 weeks evident by magnetic resonance angiography, with resolution of headache and normalization of blood pressure. Reversible cerebral vasoconstriction syndrome has been rarely reported in children. This case report highlights the diagnostic dilemma and management of the rare childhood presentation of this condition.

  6. Progressive manifestations of reversible cerebral vasoconstriction syndrome presenting with subarachnoid hemorrhage, intracerebral hemorrhage, and cerebral infarction.

    PubMed

    Choi, Kyu-Sun; Yi, Hyeong-Joong

    2014-11-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset headache with focal neurologic deficit and prolonged but reversible multifocal narrowing of the distal cerebral arteries. Stroke, either hemorrhagic or ischemic, is a relatively frequent presentation in RCVS, but progressive manifestations of subarachnoid hemorrhage, intracerebral hemorrhage, cerebral infarction in a patient is seldom described. We report a rare case of a 56-year-old woman with reversible cerebral vasoconstriction syndrome consecutively presenting as cortical subarachnoid hemorrhage, intracerebral hemorrhage, and cerebral infarction. When she complained of severe headache with subtle cortical subarachnoid hemorrhage, her angiography was non-specific. But, computed tomographic angiography showed typical angiographic features of this syndrome after four days. Day 12, she suffered mental deterioration and hemiplegia due to contralateral intracerebral hematoma, and she was surgically treated. For recurrent attacks of headache, medical management with calcium channel blockers has been instituted. Normalized angiographic features were documented after 8 weeks. Reversible cerebral vasoconstriction syndrome should be considered as differential diagnosis of non-aneurysmal subarachnoid hemorrhage, and repeated angiography is recommended for the diagnosis of this under-recognized syndrome.

  7. Acute headache at emergency department: reversible cerebral vasoconstriction syndrome complicated by subarachnoid haemorrhage and cerebral infarction.

    PubMed

    Yger, M; Zavanone, C; Abdennour, L; Koubaa, W; Clarençon, F; Dupont, S; Samson, Y

    2015-01-01

    Introduction. Reversible cerebral vasoconstriction syndrome is becoming widely accepted as a rare cause of both ischemic and haemorrhagic stroke and should be evocated in case of thunderclap headaches associated with stroke. We present the case of a patient with ischemic stroke associated with cortical subarachnoid haemorrhage (cSAH) and reversible diffuse arteries narrowing, leading to the diagnosis of reversible vasoconstriction syndrome. Case Report. A 48-year-old woman came to the emergency department because of an unusual thunderclap headache. The computed tomography of the brain completed by CT-angiography was unremarkable. Eleven days later, she was readmitted because of a left hemianopsia. One day after her admission, she developed a sudden left hemiparesis. The brain MRI showed ischemic lesions in the right frontal and occipital lobe and diffuse cSAH. The angiography showed vasoconstriction of the right anterior cerebral artery and stenosis of both middle cerebral arteries. Nimodipine treatment was initiated and vasoconstriction completely regressed on day 16 after the first headache. Conclusion. Our case shows a severe reversible cerebral vasoconstriction syndrome where both haemorrhagic and ischemic complications were present at the same time. The history we reported shows that reversible cerebral vasoconstriction syndrome is still underrecognized, in particular in general emergency departments.

  8. [Posterior reversible encephalopathy syndrome: description of a case in the setting of severe infection].

    PubMed

    Zeppa, Pio; Fonio, Paolo; Giganti, Melchiore; Cotroneo, Antonio Raffaele; Genovese, Eugenio Annibale; Stabile Ianora, Antonio Amato

    2012-11-01

    Posterior reversible encephalopathy syndrome (PRES) is a well recognized neurotoxic state coupled with a unique neuroradiological appearance. This syndrome is associated with a broad spectrum of complex conditions (preeclampsia/eclampsia, bone marrow/organ transplantation, chemotherapy, autoimmune disease). We report the case of a female patient who developed PRES in the setting of severe infection, and we discuss the possible mechanisms underlying the development of cerebral edema by describing the inherent neuroradiological features.

  9. Dialysis disequilibrium leading to posterior reversible encephalopathy syndrome in chronic renal failure.

    PubMed

    Sengupta, Pratim; Biswas, Sumanta

    2016-11-01

    Dialysis disequilibrium syndrome is a neurological adverse effect of acute hemodialysis in advanced uremic patients. Dialysis disequilibrium has a wide spectrum of clinical manifestations starting from subtle uneasiness, confusion, to florid and complex life threatening neurological deficit. In this case study, we present a patient who developed sudden cortical blindness following hemodialysis due to posterior reversible encephalopathy, which is a rare presentation of dialysis disequilibrium syndrome.

  10. A new function for glycine GlyT2 transporters: Stimulation of γ-aminobutyric acid release from cerebellar nerve terminals through GAT1 transporter reversal and Ca(2+)-dependent anion channels.

    PubMed

    Milanese, Marco; Romei, Cristina; Usai, Cesare; Oliveri, Martina; Raiteri, Luca

    2014-03-01

    Glycine GlyT2 transporters are localized on glycine-storing nerve endings. Their main function is to accumulate glycine to replenish synaptic vesicles. Glycine was reported to be costored with γ-aminobutyric acid (GABA) in cerebellar interneurons that may coexpress glycine and GABA transporters, and this is confirmed here by confocal microscopy analysis showing coexpression of GAT1 and GlyT2 transporters on microtubule-associated protein-2-positive synaptosomes. It was found that GABA uptake elicited glycine release from cerebellar nerve endings by various mechanisms. We investigated whether and by what mechanisms activation of glycine transporters could mediate release of GABA. Nerve endings purified from cerebellum were prelabeled with [3H]GABA and exposed to glycine. Glycine stimulated [3H]GABA release in a concentration-dependent manner. The glycine effect was insensitive to strychnine or to 5,7-dichlorokynurenate but it was abolished when GlyT2 transporters were blocked. About 20% of the evoked release was dependent on external Ca2+ entered by reversal of plasmalemmal Na+/Ca2+ exchangers. A significant portion of the GlyT2-mediated release of [3H]GABA (about 50% of the external Ca(2+)-independent release) occurred by reversal of GABA GAT1 transporters. Na+ ions, reaching the cytosol during glycine uptake through GlyT2, activated mitochondrial Na+/Ca2+ exchangers, causing an increase in cytosolic Ca2+, which in turn triggered a Ca(2+)-induced Ca2+ release process at inositoltrisphosphate receptors. Finally, the increased availability of Ca2+ in the cytosol allowed the opening of anion channels permeable to GABA. In conclusion, GlyT2 transporters not only take up glycine to replenish synaptic vesicles but can also mediate release of GABA by reversal of GAT1 and permeation through anion channels. Copyright © 2013 Wiley Periodicals, Inc.

  11. Primary and Reversible Pisa Syndrome in Juvenile Normal Pressure Hydrocephalus

    PubMed Central

    Leon-Sarmiento, Fidias E.; Pradilla, Gustavo; del Rosario Zambrano, Maria

    2012-01-01

    Objective To report a case of Pisa syndrome in a patient with idiopathic normal pressure hydrocephalus, who had never been exposed to psychotropic medications. Methods A 26 years-old, Colombian, male patient, was referred because he had cognitive abnormalities, gait disturbances and urinary incontinence. This patient also displayed pleurothotonos. Neurofunctional evaluation of sensory and motor integration at peripheral and central nervous system levels were done. Results Pisa syndrome disappeared after spinal tap drainage with further gait, balance and behavioral improvement. A brainstem-thalamocortical deregulation of the central sensory and motor programming, due to the chaotic enlargement of brain ventricles was thought to be the pathophysiological mechanism underlying this case. Conclusion NPH must not be longer considered as an exclusive geriatric disorder. Further, uncommon movement disorders may appear with this disorder, which should be carefully approached to avoid iatrogenic and deleterious pharmacological interventions. PMID:23794788

  12. Posterior reversible encephalopathy syndrome in alcoholic hepatitis: Hepatic encephalopathy a common theme

    PubMed Central

    John, Elizabeth S; Sedhom, Ramy; Dalal, Ishita; Sharma, Ranita

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neuro-radiologic diagnosis that has become more widely recognized and reported over the past few decades. As such, there are a number of known risk factors that contribute to the development of this syndrome, including volatile blood pressures, renal failure, cytotoxic drugs, autoimmune disorders, pre-eclampsia, and eclampsia. This report documents the first reported case of PRES in a patient with severe alcoholic hepatitis with hepatic encephalopathy and delves into a molecular pathophysiology of the syndrome. PMID:28127211

  13. Posterior reversible encephalopathy syndrome in alcoholic hepatitis: Hepatic encephalopathy a common theme.

    PubMed

    John, Elizabeth S; Sedhom, Ramy; Dalal, Ishita; Sharma, Ranita

    2017-01-14

    Posterior reversible encephalopathy syndrome (PRES) is a neuro-radiologic diagnosis that has become more widely recognized and reported over the past few decades. As such, there are a number of known risk factors that contribute to the development of this syndrome, including volatile blood pressures, renal failure, cytotoxic drugs, autoimmune disorders, pre-eclampsia, and eclampsia. This report documents the first reported case of PRES in a patient with severe alcoholic hepatitis with hepatic encephalopathy and delves into a molecular pathophysiology of the syndrome.

  14. Right hemispheric reversible cerebral vasoconstriction syndrome in a patient with left hemispheric partial seizures

    PubMed Central

    Perez, Gina S.; McCaslin, Justin

    2017-01-01

    We report a right-handed 19-year-old girl who developed reversible cerebral vasoconstriction syndrome (RCVS) lateralized to the right hemisphere with simultaneous new-onset left hemispheric seizures. RCVS, typically more diffuse, was lateralized to one of the cerebral hemispheres. PMID:28405089

  15. Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI): A case report.

    PubMed

    Khokhar, Harsh Vardhan; Choudhary, Pradeep; Saxena, Sangeeta; Arif, Mohamed

    2016-01-01

    Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) is a recently described entity with a handful of cases reported in literature. We describe a case of PRES in setting of Henoch-Schönlein purpura (HSP) with involvement of brain stem and spinal cord.

  16. Treatment of vocal tics in children with Tourette syndrome: investigating the efficacy of habit reversal.

    PubMed Central

    Woods, Douglas W; Twohig, Michael P; Flessner, Christopher A; Roloff, Timothy J

    2003-01-01

    Habit reversal was used to treat vocal tics in 5 children with Tourette syndrome. Vocal tics were reduced in 4 of the 5 children, the untreated motor tics did not increase, and treatment was acceptable to the children's parents. PMID:12723873

  17. Stimulus-Reward Association and Reversal Learning in Individuals with Asperger Syndrome

    ERIC Educational Resources Information Center

    Zalla, Tiziana; Sav, Anca-Maria; Leboyer, Marion

    2009-01-01

    In the present study, performance of a group of adults with Asperger Syndrome (AS) on two series of object reversal and extinction was compared with that of a group of adults with typical development. Participants were requested to learn a stimulus-reward association rule and monitor changes in reward value of stimuli in order to gain as many…

  18. Reversible Pisa syndrome associated to subdural haematoma: case-report

    PubMed Central

    2014-01-01

    Background Pisa Syndrome or Pleurothotonus is a relatively rare truncal dystonia, characterized by tonic flexion of the trunk and head to one side with slight rotation of the body. Since frequently associated to specific drugs such as antipsychotics and cholinesterase inhibitors or to Parkinson Disease, a pathophysiological role of cholinergic-dopaminergic imbalance has been suggested. We report here the first case of Pisa Syndrome due to an extracerebral pathology as subdural haematoma. Case presentation A hypertensive patient was admitted to Our Department for subacute onset of tonic flexion and slight rotation of the trunk associated to progressive motor deficit in left upper limb after a mild head trauma without loss of consciousness occurred around three month before. No previous or current pharmacological interventions with antidepressant, neuroleptic or anticholinergic drugs were anamnestically retrieved. Familiar and personal history was negative for neurological disorders other than acute cerebrovascular diseases. Acutely performed cerebral MRI with DWI showed a voluminous right subdural haematoma with mild shift of median line. After surgical evacuation, both motor deficit and truncal dystonia were dramatically resolved. At one-year follow up, the patient did not develop any extrapyramidal and cognitive signs or symptoms. Conclusions According to many Authors, the occurrence of truncal dystonia during several pharmacologic treatments and neurodegenerative disorders (such as Alzheimer disease and parkinsonian syndromes) supported the hypothesis that a complex dysregulation of multiple neurotransmitter systems are involved. We suggest a possible role of basal ganglia compression in pathogenesis of truncal dystonia by means of thalamo-cortical trait functional disruption and loss of proprioceptive integration. A further contribution of the subcortical structure displacement that alters motor cortex connectivity to basal ganglia may be postulated. PMID

  19. Acute Reversible Charles Bonnet Syndrome Following Eye Patch Placement.

    PubMed

    Nan, Lian; Yanbin, Hou; Jingping, Zhao

    2013-01-01

    Charles Bonnet syndrome (CBS) is characterised by recurrent vivid visual hallucinations in the presence of normal cognition. We present a case of CBS secondary to eye patching following Pars Plana Vitrectomy with an unusually acute onset in a 48-year-old woman. She presented with formed visual hallucinations that started less than 30 min after patching of her left eye. The patch was removed after 2 d, and these hallucinations persisted 2 d following eye patch removal. It is important that the ophthalmic surgeon be aware of the potential for development of CBS and offer appropriate referral and reassurance should it occur.

  20. Reversible Foix-Chavany-Marie Syndrome in a patient treated for hydrocephalus.

    PubMed

    Kaloostian, P; Chen, H; Harrington, H

    2012-10-01

    The authors report the first known case of Foix-Chavany-Marie Syndrome in a patient with hydrocephalus that reversed with ventriculoperitoneal shunting. A 34-year-old x-ray technician with a history of pilocytic astrocytoma resection and radiotherapy and ventriculoperitoneal shunt placement as a child presented with altered mental status and nausea. She was found to have acute hydrocephalus. Post-operatively she did well and was discharged home. The next day she became acutely altered with anarthria, difficulty speaking, and stiff facial muscles. After multiple revisions, she slowly recovered to her pre-op baseline over the course of next 2 months. This is the first known case of acute hydrocephalus causing Foix-Chavany-Marie Syndrome. Additionally, we show that this unique syndrome is slowly reversible after treatment of hydrocephalus.

  1. Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.

    PubMed

    Shiohama, Tadashi; Fujii, Katsunori; Takahashi, Satoru; Nakamura, Fumito; Kohno, Yoichi

    2013-12-01

    Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet. This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

    PubMed

    Boycott, Kym M; Beaulieu, Chandree L; Kernohan, Kristin D; Gebril, Ola H; Mhanni, Aziz; Chudley, Albert E; Redl, David; Qin, Wen; Hampson, Sarah; Küry, Sébastien; Tetreault, Martine; Puffenberger, Erik G; Scott, James N; Bezieau, Stéphane; Reis, André; Uebe, Steffen; Schumacher, Johannes; Hegele, Robert A; McLeod, D Ross; Gálvez-Peralta, Marina; Majewski, Jacek; Ramaekers, Vincent T; Nebert, Daniel W; Innes, A Micheil; Parboosingh, Jillian S; Abou Jamra, Rami

    2015-12-03

    Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development.

  3. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    PubMed Central

    Boycott, Kym M.; Beaulieu, Chandree L.; Kernohan, Kristin D.; Gebril, Ola H.; Mhanni, Aziz; Chudley, Albert E.; Redl, David; Qin, Wen; Hampson, Sarah; Küry, Sébastien; Tetreault, Martine; Puffenberger, Erik G.; Scott, James N.; Bezieau, Stéphane; Reis, André; Uebe, Steffen; Schumacher, Johannes; Hegele, Robert A.; McLeod, D. Ross; Gálvez-Peralta, Marina; Majewski, Jacek; Ramaekers, Vincent T.; Nebert, Daniel W.; Innes, A. Micheil; Parboosingh, Jillian S.; Abou Jamra, Rami

    2015-01-01

    Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development. PMID:26637978

  4. Increased excitability and altered action potential waveform in cerebellar granule neurons of the Ts65Dn mouse model of Down syndrome

    PubMed Central

    Usowicz, Maria M.; Garden, Claire L.P.

    2012-01-01

    Down syndrome (DS) is characterized by intellectual disability and impaired motor control. Lack of coordinated movement, poor balance, and unclear speech imply dysfunction of the cerebellum, which is known to be reduced in volume in DS. The principal cause of the smaller cerebellum is a diminished number of granule cells (GCs). These neurons form the ‘input layer’ of the cerebellar cortex, where sensorimotor information carried by incoming mossy fibers is transformed before it is conveyed to Purkinje cells and inhibitory interneurons. However, it is not known how processing of this information is affected in the hypogranular cerebellum that characterizes DS. Here we explore the possibility that the electrical properties of the surviving GCs are changed. We find that in the Ts65Dn mouse model of DS, GCs have a higher input resistance at voltages approaching the threshold for firing, which causes them to be more excitable. In addition, they fire narrower and larger amplitude action potentials. These subtly modified electrical properties may result in atypical transfer of information at the input layer of the cerebellum. PMID:22627164

  5. Topography of cerebellar deficits in humans.

    PubMed

    Grimaldi, Giuliana; Manto, Mario

    2012-06-01

    The cerebellum is a key-piece for information processing and is involved in numerous motor and nonmotor activities, thanks to the anatomical characteristics of the circuitry, the enormous computational capabilities and the high connectivity to other brain areas. Despite its uniform cytoarchitecture, cerebellar circuitry is segregated into functional zones. This functional parcellation is driven by the connectivity and the anatomo-functional heterogeneity of the numerous extra-cerebellar structures linked to the cerebellum, principally brain cortices, precerebellar nuclei and spinal cord. Major insights into cerebellar functions have been gained with a detailed analysis of the cerebellar outputs, with the evidence that fundamental aspects of cerebrocerebellar operations are the closed-loop circuit and the predictions of future states. Cerebellar diseases result in disturbances of accuracy of movements and lack of coordination. The cerebellar syndrome includes combinations of oculomotor disturbances, dysarthria and other speech deficits, ataxia of limbs, ataxia of stance and gait, as well as often more subtle cognitive/behavioral impairments. Our understanding of the corresponding anatomo-functional maps for the human cerebellum is continuously improving. We summarize the topography of the clinical deficits observed in cerebellar patients and the growing evidence of a regional subdivision into motor, sensory, sensorimotor, cognitive and affective domains. The recently described topographic dichotomy motor versus nonmotor cerebellum based upon anatomical, functional and neuropsychological studies is also discussed.

  6. [A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?].

    PubMed

    Slimani, S; Sahraoui, M; Bennadji, A; Ladjouze-Rezig, A

    2014-08-01

    Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.

  7. Cerebellar Exposure to Cell-Free Hemoglobin Following Preterm Intraventricular Hemorrhage: Causal in Cerebellar Damage?

    PubMed

    Agyemang, Alex Adusei; Sveinsdóttir, Kristbjörg; Vallius, Suvi; Sveinsdóttir, Snjolaug; Bruschettini, Matteo; Romantsik, Olga; Hellström, Ann; Smith, Lois E H; Ohlsson, Lennart; Holmqvist, Bo; Gram, Magnus; Ley, David

    2017-06-10

    Decreased cerebellar volume is associated with intraventricular hemorrhage (IVH) in very preterm infants and may be a principal component in neurodevelopmental impairment. Cerebellar deposition of blood products from the subarachnoid space has been suggested as a causal mechanism in cerebellar underdevelopment following IVH. Using the preterm rabbit pup IVH model, we evaluated the effects of IVH induced at E29 (3 days prior to term) on cerebellar development at term-equivalent postnatal day 0 (P0), term-equivalent postnatal day 2 (P2), and term-equivalent postnatal day 5 (P5). Furthermore, the presence of cell-free hemoglobin (Hb) in cerebellar tissue was characterized, and cell-free Hb was evaluated as a causal factor in the development of cerebellar damage following preterm IVH. IVH was associated with a decreased proliferative (Ki67-positive) portion of the external granular layer (EGL), delayed Purkinje cell maturation, and activated microglia in the cerebellar white matter. In pups with IVH, immunolabeling of the cerebellum at P0 demonstrated a widespread presence of cell-free Hb, primarily distributed in the white matter and the molecular layer. Intraventricular injection of the Hb scavenger haptoglobin (Hp) resulted in a corresponding distribution of immunolabeled Hp in the cerebellum and a partial reversal of the damaging effects observed following IVH. The results suggest that cell-free Hb is causally involved in cerebellar damage following IVH and that blocking cell-free Hb may have protective effects.

  8. [Clinical study of two cases of traumatic cerebellar injury].

    PubMed

    Yokota, H; Nakazawa, S; Kobayashi, S; Taniguchi, Y; Yukihide, T

    1990-01-01

    Two cases of traumatic cerebellar injury complicated with a traumatic medial longitudinal fasciculus (MLF) syndrome or cerebellar mutism were reported, and the cause of these mechanisms was discussed: Case 1: A 9-year-old boy who struck his head in the occipital region during an automobile accident was operated on for a delayed traumatic intracerebellar hematoma. The operation improved the level of his consciousness but MLF syndrome was noticed. The mechanism of traumatic MLF syndrome was discussed in relation to vascular injury and to neurovascular friction. The outcome of the syndrome including our case, which recovered spontaneously, seemed to support the theory of neurovascular injury. Case 2: A 6-year-old boy who struck his head in the temporooccipital region during an automobile accident was admitted to our hospital without conciousness. On admission, contusion of the temporal lobe and left cerebellar hemisphere was demonstrated by a computerized tomography (CT) and magnetic resonance imaging (MRI). A mute state (cerebellar mutism) was recognized after his recovery of consciousness. The cause of the cerebellar mutism was thought to be an injury of the cerebellar vermis or left cerebellar hemisphere. The findings of CT scan and MRI in our case suggested that the cause of the cerebellar mutism was the contusion of these areas.

  9. Immune activation during cerebellar dysfunction following Plasmodium falciparum malaria.

    PubMed

    de Silva, H J; Hoang, P; Dalton, H; de Silva, N R; Jewell, D P; Peiris, J B

    1992-01-01

    Evidence for immune activation was investigated in 12 patients with a rare syndrome of self-limiting, delayed onset cerebellar dysfunction following an attack of falciparum malaria which occurred 18-26 d previously. Concentrations of tumour necrosis factor, interleukin 6 and interleukin 2 were all significantly higher in serum samples of patients during cerebellar ataxia than in recovery sera and in the sera of 8 patients who did not develop delayed cerebellar dysfunction following an attack of falciparum malaria. Cytokine concentrations in the cerebrospinal fluid were also significantly higher in ataxic patients than in controls. These findings suggest that immunological mechanisms may play a role in delayed cerebellar dysfunction following falciparum malaria.

  10. Centripetal Propagation of Vasoconstriction at the Time of Headache Resolution in Patients with Reversible Cerebral Vasoconstriction Syndrome.

    PubMed

    Shimoda, M; Oda, S; Hirayama, A; Imai, M; Komatsu, F; Hoshikawa, K; Shigematsu, H; Nishiyama, J; Osada, T

    2016-09-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and diffuse segmental vasoconstriction that resolves spontaneously within 3 months. Previous reports have proposed that vasoconstriction first involves small distal arteries and then progresses toward major vessels at the time of thunderclap headache remission. The purpose of this study was to confirm centripetal propagation of vasoconstriction on MRA at the time of thunderclap headache remission compared with MRA at the time of reversible cerebral vasoconstriction syndrome onset. Of the 39 patients diagnosed with reversible cerebral vasoconstriction syndrome at our hospital during the study period, participants comprised the 16 patients who underwent MR imaging, including MRA, within 72 hours of reversible cerebral vasoconstriction syndrome onset (initial MRA) and within 48 hours of thunderclap headache remission. In 14 of the 16 patients (87.5%), centripetal propagation of vasoconstriction occurred from the initial MRA to remission of thunderclap headache, with typical segmental vasoconstriction of major vessels. These mainly involved the M1 portion of the MCA (10 cases), P1 portion of the posterior cerebral artery (10 cases), and A1 portion of the anterior cerebral artery (5 cases). This study found evidence of centripetal propagation of vasoconstriction on MRA obtained at the time of thunderclap headache remission, compared with MRA obtained at the time of reversible cerebral vasoconstriction syndrome onset. If clinicians remain unsure of the diagnosis during early-stage reversible cerebral vasoconstriction syndrome, this time point represents the best opportunity to diagnose reversible cerebral vasoconstriction syndrome with confidence. © 2016 by American Journal of Neuroradiology.

  11. Cerebellar Contribution to Social Cognition.

    PubMed

    Hoche, Franziska; Guell, Xavier; Sherman, Janet C; Vangel, Mark G; Schmahmann, Jeremy D

    2016-12-01

    Emotion attribution (EA) from faces is key to social cognition, and deficits in perception of emotions from faces underlie neuropsychiatric disorders in which cerebellar pathology is reported. Here, we test the hypothesis that the cerebellum contributes to social cognition through EA from faces. We examined 57 patients with cerebellar disorders and 57 healthy controls. Thirty-one patients had complex cerebrocerebellar disease (complex cerebrocerebellar disease group (CD)); 26 had disease isolated to cerebellum (isolated cerebellar disease group (ID)). EA was measured with the Reading the Mind in the Eyes test (RMET), and informants were administered a novel questionnaire, the Cerebellar Neuropsychiatric Rating Scale (CNRS). EA was impaired in all patients (CD p < 0.001, ID p < 0.001). When analyzed for valence categories, both CD and ID missed more positive and negative stimuli. Positive targets produced the highest deficit (CD p < 0.001, ID p = 0.004). EA impairments correlated with CNRS measures of deficient social skills (p < 0.05) and autism spectrum behaviors (p < 0.005). Patients had difficulties with emotion regulation (CD p < 0.001, ID p < 0.001), autism spectrum behaviors (CD p < 0.049, ID p < 0.001), and psychosis spectrum symptoms (CD p < 0.021, ID p < 0.002). ID informants endorsed deficient social skills (CD p < 0.746, ID p < 0.003) and impaired attention regulation (CD p < 0.144, ID p < 0.001). Within the psychosis spectrum domain, CD patients were worse than controls for lack of empathy (CD p = 0.05; ID p = 0.49). Thus, patients with cerebellar damage were impaired on an EA task associated with deficient social skills and autism spectrum behaviors and experienced psychosocial difficulties on the CNRS. This has relevance for ataxias, the cerebellar cognitive affective/Schmahmann syndrome, and neuropsychiatric disorders with cerebellar pathology.

  12. [Metabolic syndrome reversion by polyunsaturated fatty acids ingestion].

    PubMed

    Campos Mondragón, Martha Gabriela; Oliart Ros, Rosa María; Martínez Martinez, Angélica; Méndez Machado, Gustavo Francisco; Angulo Guerrero, Jesús Ofelia

    2013-12-21

    Metabolic syndrome (MS) frequency is growing and diet has an important influence on its evolution. Our objective was to study the effect of 3 sources of polyunsaturated fatty acids on MS parameters in humans. The MS was diagnosed according to the International Diabetes Federation. Three groups of individuals (n=15/group) were quasi-randomly assigned to one of the following treatments during 6 weeks: a) 1.8 g/d n-3 (1.08g eicosapentoaenoic acid+0.72 g docosahexaenoic acid); b) 2.0 g/d conjugated linoleic acid (CLA, 50:50, cis9:trans11, trans10:cis12), and c) 40 g/d walnut. The clinical and biochemical parameters were evaluated at the beginning and the end of the essay. In the group with n-3 the triglycerides level decreased from 183.9 ± 35.2mg/dl to 149.6 ± 29.0mg/dl (P=.007). In the group with walnut the HDL level rose from 41.7 ± 5.2mg/dl to 47.8 ± 5.4 mg/dl (P=.004) and the Castelli index (total cholesterol/HDL) decreased from 4.86 ± 0.97 to 3.82 ± 0.81 (P=.004). There were not significant changes in the CLA group. At the end of the essay, 46.7% of walnut group patients, 46.7% of n-3 group and 20% of CLA group, had no MS. The groups that consumed polyunsaturated fatty acids n-3 and those in walnut in moderate daily doses during 6 weeks had an improvement of the dyslipidemia component of MS, hypertriglyceridemia and low HDL level. Copyright © 2011 Elsevier España, S.L. All rights reserved.

  13. Reversible cerebral vasoconstriction syndrome and bilateral vertebral artery dissection presenting in a patient after cesarean section

    PubMed Central

    Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M

    2013-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs. PMID:23354867

  14. Reversible cerebral vasoconstriction syndrome and bilateral vertebral artery dissection presenting in a patient after cesarean section.

    PubMed

    Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M

    2013-01-24

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs.

  15. PRES and Epilepsy: A Potential Long-Term Consequence of a "Reversible" Syndrome.

    PubMed

    Fitzgerald, Ryan T; Santoro, Jarod; Hinduja, Archana; Samant, Rohan S; Kumar, Manoj; Angtuaco, Edgardo J

    2017-03-01

    Epilepsy is very rarely attributed to posterior reversible encephalopathy syndrome (PRES). We report the case of a previously healthy 21-year-old who developed epilepsy with mesial temporal sclerosis following an episode of PRES related to a complicated Cesarean delivery. Neuroimaging at the time of PRES and 3 months after revealed the development of unilateral hippocampal volume loss following resolution of acute PRES-related brain edema. We discuss the incidence and importance of "non-reversible" sequelae of PRES and their implications for patient care.

  16. [The course of early neurological rehabilitation in a patient with severe posterior reversible encephalopathy syndrome].

    PubMed

    Gdynia, H J; Ampatzis, G; Diaconescu, A; Nowak, D A; Dabitz, R; Pfefferkorn, T

    2014-12-01

    Posterior reversible encephalopathy syndrome (PRES) is widely held to be a benign and potentially reversible disease. However, severe cases have been described in the literature. Data on the long-term outcome of these severe cases are scarce. Furthermore, there are no data focusing on potential benefits of neurological early rehabilitation in these patients. Here we present the clinical picture, neuroimaging features, rehabilitative course and long-term outcome of a patient with severe PRES who underwent early neurological rehabilitation. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Reversal of neurological defects in a mouse model of Rett syndrome.

    PubMed

    Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian

    2007-02-23

    Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. However, neurons do not die, which suggests that this is not a neurodegenerative disorder. An important question for future therapeutic approaches to this and related disorders concerns phenotypic reversibility. Can viable but defective neurons be repaired, or is the damage done during development without normal MeCP2 irrevocable? Using a mouse model, we demonstrate robust phenotypic reversal, as activation of MeCP2 expression leads to striking loss of advanced neurological symptoms in both immature and mature adult animals.

  18. Reversible Cerebral Vasoconstriction Syndrome, Part 2: Diagnostic Work-Up, Imaging Evaluation, and Differential Diagnosis.

    PubMed

    Miller, T R; Shivashankar, R; Mossa-Basha, M; Gandhi, D

    2015-09-01

    The diagnostic evaluation of a patient with reversible cerebral vasoconstriction syndrome integrates clinical, laboratory, and radiologic findings. Imaging plays an important role by confirming the presence of cerebral vasoconstriction; monitoring potential complications such as ischemic stroke; and suggesting alternative diagnoses, including CNS vasculitis and aneurysmal subarachnoid hemorrhage. Noninvasive vascular imaging, including transcranial Doppler sonography and MR angiography, has played an increasingly important role in this regard, though conventional angiography remains the criterion standard for the evaluation of cerebral artery vasoconstriction. Newer imaging techniques, including high-resolution vessel wall imaging, may help in the future to better discriminate reversible cerebral vasoconstriction syndrome from primary angiitis of the CNS, an important clinical distinction. © 2015 by American Journal of Neuroradiology.

  19. [Prolonged cerebral salt wasting following craniopharyngioma surgery and posterior reversible encephalopathy syndrome: a case report].

    PubMed

    Ohtonari, Tatsuya; Hashimoto, Masanori; Urasaki, Eiichiro; Yokota, Akira; Araki, Shunsuke; Asayama, Koutaro; Shirahata, Akira

    2005-01-01

    A 9-year-old boy was admitted to our hospital with daytime urinary incontinence for the past one year. MRI showed craniopharyngioma occupying the third ventricle. The tumor was excised by interhemispheric approach. Because hyponatremia and polyuria with high renal loss of sodium were observed on postoperative day 3, hydrocortisone and DDAVP were replaced. On postoperative day 24, successive general convulsions and hyponatremia recurred, and MRI FLAIR imaging showed marked brain edema in the bilateral parieto-occipital lobes. This finding disappeared late in the course of treatment, and the case was diagnosed as posterior reversible encephalopathy syndrome. The pathophysiology of cerebral salt wasting and posterior reversible encephalopathy syndrome in a craniopharyngioma patient are also discussed in the article.

  20. [Reversible cerebral vasoconstriction syndrome. Challenge for diagnostics and intensive care therapy].

    PubMed

    Jansen, G; Mertzlufft, F; Bach, F

    2015-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a disease of unclear incidence frequently affecting middle aged women and is usually associated with use of adrenergic or serotoninergic substances. The exclusion of relevant differential diagnoses, such as aneurysmal subarachnoid hemorrhage, primary cerebral angiitis, posterior reversible encephalopathy syndrome and carotid artery dissection is critical in terms of time and significance. Thunderclap headache as well as multiple and multilocular vasospasms with direct or indirect angiography without substantial findings in cerebrospinal fluid diagnostics are typical symptoms. The necessity for intensive care treatment is often justified by initial acute impairment of vital functions and possible development of cerebral or extracerebral complications. Because the exact pathophysiology remains unknown, a specific therapy does not exist. This poses significant challenges in intensive care medicine, which are illustrated on the basis of the case study presented.

  1. Reversible cerebral vasoconstriction syndrome is a rare cause of stroke after carotid endarterectomy.

    PubMed

    Causey, Marlin Wayne; Amans, Matthew R; Han, Sukgu; Higashida, Randall T; Conte, Michael

    2016-12-01

    Neurologic events after carotid endarterectomy (CEA) require prompt diagnosis and management to avoid potentially catastrophic sequelae. This report describes a 69-year-old gentleman who underwent a left CEA for a high-grade asymptomatic carotid stenosis with concomitant contralateral carotid occlusion. He had transient and crescendo neurologic events in the first 3 postoperative weeks that culminated in right hand weakness and paresthesia, despite dual antiplatelet therapy, maximal anticoagulation, and undergoing stenting of the endarterectomy site. Neurologic events recurred despite these measures and subsequent angiography showed reversible cerebral vasoconstriction syndrome that was successfully managed without further events. Reversible cerebral vasoconstriction syndrome is an unusual but important cause of neurologic events after CEA that requires aggressive and directed medical therapy. Published by Elsevier Inc.

  2. Weaker control of the electrical properties of cerebellar granule cells by tonically active GABAA receptors in the Ts65Dn mouse model of Down’s syndrome

    PubMed Central

    2013-01-01

    Background Down’s syndrome (DS) is caused by triplication of all or part of human chromosome 21 and is characterized by a decrease in the overall size of the brain. One of the brain regions most affected is the cerebellum, in which the number of granule cells (GCs) is markedly decreased. GCs process sensory information entering the cerebellum via mossy fibres and pass it on to Purkinje cells and inhibitory interneurons. How GCs transform incoming signals depends on their input–output relationship, which is adjusted by tonically active GABAA receptor channels. Results We report that in the Ts65Dn mouse model of DS, in which cerebellar volume and GC number are decreased as in DS, the tonic GABAA receptor current in GCs is smaller than in wild-type mice and is less effective in moderating input resistance and raising the minimum current required for action potential firing. We also find that tonically active GABAA receptors curb the height and broaden the width of action potentials in wild-type GCs but not in Ts65Dn GCs. Single-cell real-time quantitative PCR reveals that these electrical differences are accompanied by decreased expression of the gene encoding the GABAA receptor β3 subunit but not genes coding for some of the other GABAA receptor subunits expressed in GCs (α1, α6, β2 and δ). Conclusions Weaker moderation of excitability and action potential waveform in GCs of the Ts65Dn mouse by tonically active GABAA receptors is likely to contribute to atypical transfer of information through the cerebellum. Similar changes may occur in DS. PMID:23870245

  3. Linguistic history of posterior reversible encephalopathy syndrome: mirror of developing knowledge.

    PubMed

    Maizlin, Zeev V; Ghandehari, Hournaz; Maizels, Leonid; Shewchuk, Jason R; Kirby, John M; Vora, Parag; Clement, Jason J

    2011-01-01

    the term posterior reversible encephalopathy syndrome (PRES) was first proposed in 2000. Since then, the acronym PRES has become very popular in imaging and clinical literature as it is short, easy to say and remember, and neatly couples the frequent localization of neuroimaging findings along with the typical outcome of this syndrome. Another possible reason for the popularity of this acronym in clinical circles is the connotation of PRES with (elevated blood) PRESsure, as a majority of cases are believed to be associated with hypertension. However, problems exist with the interpretation and common understanding of PRES, questioning the appropriateness of "P" and "R" in the acronym. The linguistic issues related to the acronym of PRES are interesting. the aim of this work is to analyze the controversies related to the acronym of PRES. in 2006, modifying the meaning of the acronym was suggested, renaming it Potentially Reversible Encephalopathy Syndrome in order to adjust to the cases when posterior involvement is not prominent and emphasize that the reversibility is not spontaneous. This meant the creation of a backronym, where the new phrase is constructed by starting with an existing acronym. this new backronym indicates that the original acronym of PRES has become a misnomer.

  4. Reversible cerebral vasoconstriction syndrome manifesting as focal seizures without a thunderclap headache: A pediatric case report.

    PubMed

    Kuga, Shuji; Goto, Hironori; Okanari, Kazuo; Maeda, Tomoki; Ihara, Kenji

    2016-10-01

    We report a pediatric case of reversible cerebral vasoconstriction syndrome with focal seizures without a thunderclap headache. A 7-year-old girl had a mild acute headache with nausea after swimming. She subsequently developed hemi-convulsions followed by right hemiplegia. Brain magnetic resonance angiography revealed generalized vasoconstriction of the main cerebral peripheral arteries. Her hemiplegia was spontaneously resolved within 6h. Over the next 24h she suffered from recurrent and transient headaches, which recurred on days 3 and 5. Follow-up magnetic resonance angiography on day 3 documented the multifocal narrowing of the main cerebral arteries, which was observed to have diminished at 12weeks after her initial presentation. She did not have any headaches or neurological deficits after day 5. This case indicates that reversible cerebral vasoconstriction syndrome should be considered in children with focal seizures even when they do not present with thunderclap headaches. The timely and appropriate evaluation by magnetic resonance angiography and imaging is essential for diagnosing reversible cerebral vasoconstriction syndrome.

  5. Posterior reversible encephalopathy syndrome and stroke after intravenous immunoglobulin treatment in Miller-Fisher syndrome/Bickerstaff brain stem encephalitis overlap syndrome.

    PubMed

    Stetefeld, Henning R; Lehmann, Helmar C; Fink, Gereon R; Burghaus, Lothar

    2014-10-01

    The association of a posterior reversible encephalopathy syndrome (PRES) without arterial hypertension with autoimmune-mediated inflammatory neuropathies such as Guillain-Barré syndrome (GBS) is a rare and poorly understood phenomenon. To date, PRES has been described as initial manifestation, coincidental finding, or adverse event subsequent to immunomodulatory treatment with intravenous immunoglobulin (IVIG) in cases of axonal and demyelinating GBS as well as in Miller-Fisher syndrome (MFS). We here report a case of MFS/Bickerstaff brain stem encephalitis (BBE)-overlap syndrome and nonhypertensive PRES that occurred in close temporal association with IVIG treatment and caused stroke. Immunoadsorption ameliorated the disease course. Our case supports the notion that in severe cases, immunoadsorption should be considered as first-line therapy instead of IVIG for rapid removal of IgG and thus to hasten recovery and improve functional outcome. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  6. Perioperative posterior reversible encephalopathy syndrome in 2 pediatric neurosurgery patients with brainstem ependymoma.

    PubMed

    Gephart, Melanie G Hayden; Taft, Bonnie P; Giese, Anne-Katrin; Guzman, Raphael; Edwards, Michael S B

    2011-03-01

    Posterior reversible encephalopathy syndrome (PRES) has been described in pediatric neurooncology patients, although it has not been documented perioperatively in pediatric neurosurgery patients not actively receiving chemotherapy. Recently at the authors' facility, 2 cases of PRES were diagnosed perioperatively in children with brainstem ependymoma. Both patients had presented with hypertension, altered mental status, and seizures and demonstrated MR imaging features consistent with PRES. The patients were treated with antiseizure and antihypertension medications, leading to improvement in both clinical symptoms and neuroimaging findings. These cases are the first to document PRES in perioperative pediatric neurosurgery patients not actively receiving chemotherapy. Both patients had ependymoma involving the brainstem, which may have led to intra- and perioperative hemodynamic instability (including hypertension) and predisposed them to this syndrome. An awareness of PRES in similar scenarios will aid in the prevention, diagnosis, and treatment of pediatric neurosurgery patients with this syndrome.

  7. [Reversible neurotoxicity secondary to metronidazole: report of one case].

    PubMed

    Retamal-Riquelme, Eva; Soto-San Martín, Hernán; Vallejos-Castro, José; Galdames-Poblete, Daniel

    2014-03-01

    Metronidazole can cause adverse effects both in the central and peripheral nervous system. We report a 34-year-old female who presented a reversible cerebellar syndrome and peripheral neuropathy as an adverse effect associated with the use of metronidazole. Brain magnetic resonance imaging (MRI) showed hyperintense T2 and FLAIR bilateral symmetrical cerebellar lesions, without contrast enhancement or mass effect, isointense in diffusion-weighted imaging and hypointense in apparent diffusion coefficient sequences. Also, electrophysiological evaluation was consistent with axonal polyneuropathy. She had received metronidazole for a liver abscess during 49 days. After discontinuation of metronidazole, she had rapid regression of cerebellar symptoms and normalization of MRI, with subsequent disappearance of peripheral symptoms. The brain MRI, electromyography and nerve conduction studies performed at 35 months later showed complete resolution of the lesions. Although metronidazole neurotoxicity is a rare event, it must be borne in mind because the prognosis is usually favorable after stopping the drug.

  8. Oxaliplatin-induced posterior reversible encephalopathy syndrome with isolated involvement of pons.

    PubMed

    Tang, Koay Hean

    2015-01-01

    Isolated pontine lesion can be caused by the posterior reversible encephalopathy syndrome (PRES). It does occur in the normotensive patient who is treated with oxaliplatin. We reported a case of 81-year-old Chinese man with metastatic colorectal carcinoma who was initially treated with capecitabine. No significant adverse effects were noted. However, the response to the treatment was poor. Subsequently, Xelox was given. He developed transient altered mental status. Oxaliplatin was thought to be the causative agent and was withheld. Magnetic resonance imaging brain revealed vasogenic edema in the pons that was reversible after 2 weeks, as well as complete resolution of clinical symptoms. Early identification of the reversible cause of isolated pontine lesion, such as chemo, triggered PRES is crucial to facilitate prompt treatment by removing the offending agent or reducing the dose.

  9. Cortical subarachnoid hemorrhage associated with reversible cerebral vasoconstriction syndrome after elective triplet cesarean delivery.

    PubMed

    Albano, Beatrice; Del Sette, Massimo; Roccatagliata, Luca; Gandolfo, Carlo; Primavera, Alberto

    2011-06-01

    Reversible cerebral vasoconstriction syndromes (RCVS) comprise a group of disorders characterized by prolonged, but reversible vasoconstriction of the cerebral arteries, usually associated with acute-onset, severe, recurrent headaches, with or without additional neurological signs and symptoms. Various complications of this condition have been observed, such as cortical subarachnoid hemorrhages (cSAH), intracerebral hemorrhages, reversible posterior leukoencephalopathy, ischaemic strokes and transient ischaemic attacks. It is important to include RCVS in thunderclap headache differential diagnosis and among non-aneurismatic subarachnoid hemorrhage causes. In the past years, thanks to the major diffusion of new diagnostic tools such as magnetic resonance, computed tomography and digital subtraction angiography, RCVS have been demonstrated to be more frequent than previously thought. We report an illustrative case of a woman affected by a small cSAH, associated to RCVS, after elective triplet cesarean delivery. To our knowledge, this is the first case of cSAH associated to RCVS after a triplet pregnancy.

  10. An often unrecognized cause of thunderclap headache: reversible cerebral vasoconstriction syndrome.

    PubMed

    Koopman, K; Teune, L K; ter Laan, M; Uyttenboogaart, M; Vroomen, P C; De Keyser, J; Luijckx, G J

    2008-12-01

    Thunderclap headache (TCH) can have several causes of which subarachnoid hemorrhage (SAH) is most common and well known. A rare cause of TCH is the reversible cerebral vasoconstriction syndrome (RCVS) which is characterized by a reversible segmental vasoconstriction of the intracranial vessels. We describe two patients with TCH due to RCVS and the probable precipitating factor, namely, cannabis and an anti-migraine drug. In RCVS, cerebrospinal fluid examination is (near) normal, in contrast to SAH and (primary) cerebral vasculitis. Brain MRI may be normal or shows infarction. MRA can demonstrate vasoconstriction of the great arteries, but a normal MRA does not rule out the diagnosis. Caliber changes on cerebral angiography cannot adequately differentiate between RCVS and vasculitis. Calcium-channel antagonists may be a good therapy and repeated transcranial Doppler ultrasonography can be a reliable non-invasive investigation to monitor the effect of treatment and demonstrate reversibility of the vasoconstriction.

  11. Dietary reversal of neuropathy in a murine model of prediabetes and metabolic syndrome.

    PubMed

    Hinder, Lucy M; O'Brien, Phillipe D; Hayes, John M; Backus, Carey; Solway, Andrew P; Sims-Robinson, Catrina; Feldman, Eva L

    2017-06-01

    Patients with metabolic syndrome, which is defined as obesity, dyslipidemia, hypertension and impaired glucose tolerance (IGT), can develop the same macro- and microvascular complications as patients with type 2 diabetes, including peripheral neuropathy. In type 2 diabetes, glycemic control has little effect on the development and progression of peripheral neuropathy, suggesting that other metabolic syndrome components may contribute to the presence of neuropathy. A parallel phenomenon is observed in patients with prediabetes and metabolic syndrome, where improvement in weight and dyslipidemia more closely correlates with restoration of nerve function than improvement in glycemic status. The goal of the current study was to develop a murine model that resembles the human condition. We examined longitudinal parameters of metabolic syndrome and neuropathy development in six mouse strains/genotypes (BKS-wt, BKS-Lepr(db/+) , B6-wt, B6-Lepr(db/+) , BTBR-wt, and BTBR-Lep(ob/+) ) fed a 54% high-fat diet (HFD; from lard). All mice fed a HFD developed large-fiber neuropathy and IGT. Changes appeared early and consistently in B6-wt mice, and paralleled the onset of neuropathy. At 36 weeks, B6-wt mice displayed all components of the metabolic syndrome, including obesity, IGT, hyperinsulinemia, dyslipidemia and oxidized low density lipoproteins (oxLDLs). Dietary reversal, whereby B6-wt mice fed a HFD from 4-20 weeks of age were switched to standard chow for 4 weeks, completely normalized neuropathy, promoted weight loss, improved insulin sensitivity, and restored LDL cholesterol and oxLDL by 50% compared with levels in HFD control mice. This dietary reversal model provides the basis for mechanistic studies investigating peripheral nerve damage in the setting of metabolic syndrome, and ultimately the development of mechanism-based therapies for neuropathy. © 2017. Published by The Company of Biologists Ltd.

  12. SMART syndrome: a late reversible complication after radiation therapy for brain tumours.

    PubMed

    Kerklaan, Joost P; Lycklama á Nijeholt, Geert J; Wiggenraad, Ruud G J; Berghuis, Bianca; Postma, Tjeerd J; Taphoorn, Martin J B

    2011-06-01

    With intensified treatment leading to longer survival, complications of therapy for brain tumours are more frequently observed. Regarding radiation therapy, progressive and irreversible white matter disease with cognitive decline is most feared. We report on four patients with reversible clinical and radiological features occurring years after radiation for brain tumours, suggestive for the so called SMART syndrome (stroke-like migraine attacks after radiation therapy). All four patients (males, age 36-60 years) had been treated with focal brain radiation for a primary brain tumour or with whole-brain radiation therapy for brain metastases. Ranging from 2 to 10 years following radiation therapy patients presented with headache and focal neurological deficits, suggestive for tumour recurrence. Two patients also presented with focal seizures. MRI demonstrated typical cortical swelling and contrast enhancement, primarily in the parieto-occipital region. On follow-up both clinical and MRI features improved spontaneously. Three patients eventually proved to have tumour recurrence. The clinical and radiological picture of these patients is compatible with the SMART syndrome, a rare complication of radiation therapy which is probably under recognized in brain tumour patients. The pathophysiology of the SMART syndrome is poorly understood but bears similarities with the posterior reversible encephalopathy syndrome (PRES). These four cases underline that the SMART syndrome should be considered in patients formerly treated with radiation therapy for brain tumours, who present with new neurologic deficits. Before the diagnosis of SMART syndrome can be established other causes, such as local tumour recurrence, leptomeningeal disease or ischemic disease should be ruled out.

  13. Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome.

    PubMed

    Merke, Deborah P; Giedd, Jay N; Keil, Margaret F; Mehlinger, Sarah L; Wiggs, E A; Holzer, Stuart; Rawson, Erin; Vaituzis, A Catherine; Stratakis, Constantine A; Chrousos, George P

    2005-05-01

    Adults with Cushing syndrome frequently develop brain atrophy, memory impairment, and depression, with partial to complete resolution after cure. The effect of excess glucocorticoid exposure on the brain of children has not been systematically studied. Eleven children (six girls, five boys; ages, 8-16 yr) with endogenous Cushing syndrome seen at the National Institutes of Health Clinical Center from 1999-2000 and 10 healthy age- and sex-matched control subjects were studied. Cognitive and psychological evaluations and magnetic resonance imaging of the brain were done before and 1 yr after cure for patients with Cushing syndrome and once for controls. The estimated duration of Cushing syndrome was 4.4 +/- 1.2 yr. When compared with control subjects, children with Cushing syndrome had significantly smaller cerebral volumes (P < 0.001), larger ventricles (P = 0.02), and smaller amygdala (P = 0.004). At baseline, there were no significant differences in IQ between the two groups, and no psychopathology was identified. Despite reversal of cerebral atrophy 1 yr after surgical cure (total cerebral volume, 947 +/- 94 vs.1050 +/- 74 ml, P < 0.001; ventricular volume, 21.4 +/- 12.5 vs. 14.5 +/- 11.6 ml, P < 0.001), children with Cushing syndrome experienced a significant (P < 0.05) decline in Wechsler IQ scores (Full Scale, 112 +/- 19 vs. 98 +/- 14) and a decline in school performance, without any associated psychopathology. The effect of glucocorticoid excess on the brain of children appears to be different from adults. Despite rapid reversibility of cerebral atrophy, children experience a significant decline in cognitive function 1 yr after correction of hypercortisolism.

  14. The cerebellar serotoninergic system and its possible involvement in cerebellar ataxia.

    PubMed

    Trouillas, P

    1993-05-01

    A review concerning the characteristics of the cerebellar serotoninergic system is presented. In rat, cat and oppossum, the perikarya of origin are located in the brain stem raphe nuclei and in other brainstem structures. The projections to the cerebellar layers and deep nuclei include synaptic connections, but also non synaptic terminals, especially in a diffuse cortical plexus. Serotoninergic receptors have been described: 5-HT1B in the molecular layer and 5-HT2 in the inferior olive. Serotonin exerts neurophysiological effects on several target cells, directly or indirectly, presynaptically or postsynaptically. A modulatory effect on Purkinje cells is well documented. In thiamine deprived animals, a specific serotoninergic cerebellar syndrome includes a selective degeneration of the serotoninergic cerebellar system, an increase of the 5-HIAA cerebellar values and an exaggerated serotoninergic turnover. In human heredoataxias (Friedreich's ataxia and cerebellar cortical atrophy), serotoninergic disturbances have been observed in the CSF, including low 5-HIAA values and an increased serotoninergic turnover. Therapeutic results have been obtained with L-5-HTP, a precursor of serotonin, in several conditions presenting cerebellar ataxia. L-5-HTP resistance of olivopontocerebellar atrophies may be explained by the destruction of serotonin-sensitive target cells, especially Purkinje cells.

  15. Reversible splenial lesion syndrome associated with encephalitis/encephalopathy presenting with great clinical heterogeneity.

    PubMed

    Zhu, Yuanzhao; Zheng, Junjun; Zhang, Ling; Zeng, Zhenguo; Zhu, Min; Li, Xiaobin; Lou, Xiaoliang; Wan, Hui; Hong, Daojun

    2016-04-18

    Reversible splenial lesion syndrome (RESLES) is a disorder radiologically characterized by reversible lesion in the splenium of the corpus callosum (SCC). Most of patients with RESLES associated with encephalitis/encephalopathy were identified in Japanese population, but almost no Chinese patients were diagnosed as RESLES associated with encephalitis/encephalopathy. Possible patients with reversible isolated SCC lesions were retrieved from January 2012 to July 2015 using keyword "restricted diffusion and isolated SCC lesion" in MRI report system from a large academic center. The clinical, laboratory and radiological data were summarized. A total of 15 encephalitis/encephalopathy patients (9 males and 6 females) were identified with a reversible isolated SCC lesion. Except for 13 patients with fever symptom, 8 patients also had cold symptoms before the onset of neurological symptoms. The neurological symptoms included headache, vertigo, seizure, disturbance of consciousness, and delirious behavior. Thirteen patients completely recovered within 1 month, but 2 patients who were subjected to mechanical ventilation had persistent neurological deficits. The initial MRI features showed isolated ovoid or extending SCC lesions with homogeneous hyperintense on diffusion weighted imaging (DWI) and decreased apparent diffusion coefficient (ADC) values. The follow-up MRI revealed that isolated SCC lesions with diffuse restriction disappeared at 10 to 32 days after the initial MRI study. Fractional anisotropy map revealed the decreased value of SCC lesion in a severe case with poor prognosis. RESLES associated with encephalitis/encephalopathy is a reversible syndrome with an excellent prognosis in most patients, while a few patients required ventilator supporting at the early stage might have severe neurological sequelae. Reversible signal changes on DWI and ADC are identified in all patients, but fractional anisotropy values can be decreased in severe patient with neurological

  16. Reversals.

    ERIC Educational Resources Information Center

    National Center on Educational Media and Materials for the Handicapped, Columbus, OH.

    Selected from the National Instructional Materials Information System (NIMIS)--a computer based on-line interactive retrieval system on special education materials--the bibliography covers nine materials for remediating reversals in handicapped students at the early childhood and elementary levels. Entries are presented in order of NIMIS accession…

  17. Diminution and reversal of eye movements induced by local stimulation of rabbit cerebellar flocculus after partial destruction of the inferior olive.

    PubMed

    Dufossé, M; Ito, M; Miyashita, Y

    1978-09-15

    After the dorsal cap and adjacent ventrolateral outgrowth regions of the inferior olive had been chronically destroyed in the rabbits, the eye movements evoked by local stimulation of the flocculus were reduced in amplitude and reversed in direction, indicating that the inhibition by flocculus Purkinje cells of vestibulo-ocular relay neurons could no longer be actuated by the stimulation.

  18. Cerebellar neurophysiology in Gilles de la Tourette syndrome and its role as a target for therapeutic intervention.

    PubMed

    Pedroarena-Leal, Nicole; Ruge, Diane

    2017-09-01

    Therapy resistance of approximately one-third of patients with Gilles de la Tourette syndrome (GTS) requires consideration of alternative therapeutic interventions. The article demonstrates the role of the cerebellum in neuropsychiatric disorders and GTS in particular, specifically its role in functions relating to motor and cognitive symptoms. Certain circuits in the cerebellum have been shown to undergo learning-induced changes during conditioning, with cells in the cortex of the cerebellum appearing to decrease their activity whilst those in deep nuclei seem to do the inverse. Evidence exists showing that abnormal excitability of the motor cortex via the cerebellum could be expected to participate in motor tics in GTS possibly due to aberrations in certain structures of involved circuits. The role of the cerebellum in learning and plasticity processes renders it a strategic and valuable structure to consider for brain stimulation when investigating potential treatment options for neuropsychiatric disorders such as GTS. This article puts forth the concept of using non-invasive and invasive brain stimulation techniques as a novel platform for non-pharmacological neuromodulation of GTS symptoms. © 2015 The British Psychological Society.

  19. Middle cerebellar peduncles: Magnetic resonance imaging and pathophysiologic correlate

    PubMed Central

    Morales, Humberto; Tomsick, Thomas

    2015-01-01

    We describe common and less common diseases that can cause magnetic resonance signal abnormalities of middle cerebellar peduncles (MCP), offering a systematic approach correlating imaging findings with clinical clues and pathologic mechanisms. Myelin abnormalities, different types of edema or neurodegenerative processes, can cause areas of abnormal T2 signal, variable enhancement, and patterns of diffusivity of MCP. Pathologies such as demyelinating disorders or certain neurodegenerative entities (e.g., multiple system atrophy or fragile X-associated tremor-ataxia syndrome) appear to have predilection for MCP. Careful evaluation of concomitant imaging findings in the brain or brainstem; and focused correlation with key clinical findings such as immunosuppression for progressive multifocal leukoencephalopahty; hypertension, post-transplant status or high dose chemotherapy for posterior reversible encephalopathy; electrolyte disorders for myelinolysis or suspected toxic-drug related encephalopathy; would yield an appropriate and accurate differential diagnosis in the majority of cases. PMID:26751508

  20. Memory impairment following right cerebellar infarction: a case study.

    PubMed

    Nakamoto, Fumiko Kusunoki; Tsutsumiuchi, Michiko; Maeda, Meiko Hashimoto; Uesaka, Yoshikazu; Takeda, Katsuhiko

    2015-01-01

    We reported a patient with a right cerebellar infarction who showed anterograde amnesia. Cognitive dysfunction caused by cerebellar lesions was called cerebellar cognitive affective syndrome, and deactivation of the contralateral prefrontal cortex function due to disconnections of cerebello-cerebral fiber tracts have been hypothesized as mechanism underlying the syndrome. The episodic memory impairment, however, could not be supported by the same mechanism because the prefrontal lesions cannot cause amnesia syndrome. The feature of the impairment of our patient was similar to that of diencephalic amnesia, and a single photon emission computed tomography study showed a relative hypoperfusion in the right cerebellar hemisphere and left anterior thalamus. We considered that the memory deficit was caused by the dysfunction of the thalamus, which is a relay center of the cerebello-cerebral connectivity network.

  1. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice.

    PubMed

    Carlström, Mattias; Larsen, Filip J; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O

    2010-10-12

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate-nitrite-NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes.

  2. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice

    PubMed Central

    Carlström, Mattias; Larsen, Filip J.; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O.

    2010-01-01

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate–nitrite–NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes. PMID:20876122

  3. [Posterior reversible encephalopathy syndrome and cerebrovascular constriction syndrome in the differential diagnosis of post-partum headaches].

    PubMed

    Ruiz López, N; Cano Hernández, B; Balbás Álvarez, S

    2016-02-01

    Postpartum headache can be due to many causes. In a patient with previous epidural analgesia, the headache can be attributed to post-dural puncture headache, even if the symptoms are not typical of this clinical entity. We report a case of a post-partum with accidental dural tap during the insertion of an epidural catheter for labour analgesia, and who referred to headaches in the third post-partum day. Initially, a post-dural puncture headache was suspected, but the subsequent onset of seizures and visual impairment meant that the diagnosis had to be reconsidered. In this case report, the clinical and pathophysiological features of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome, as well as the differential diagnosis of post-partum headaches are described. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

    PubMed Central

    Teebi, A S; Miller, S; Ostrer, H; Eydoux, P; Colomb-Brockmann, C; Oudjhane, K; Watters, G

    1998-01-01

    Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes. Images PMID:9733035

  5. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

    PubMed

    Chen, Chih-Ping; Huang, Ming-Chao; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Town, Dai-Dyi; Wang, Wayseen

    2013-07-25

    We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case.

  6. Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorder.

    PubMed

    Zappella, M

    2002-02-01

    Early-onset Tourette syndrome comorbid with reversible autistic behaviour is described in twelve young males. After a normal gestation, delivery and first-year development, regression set in between the age of one and two with loss of various abilities and the emergence of autistic behaviour. At this time, or slightly later, they showed multiple motor and vocal tics, simple and complex: the latter could also be traced to most of their parents. Following an intervention based on intense cuddling, motor activation and paedagogic guidance, these children's abilities rapidly improved, reaching at follow-up a normal or borderline intellectual functioning and with the disappearance of their initial autistic behaviour. At follow-up tics were present in all, usually with the features of a full-blown Tourette syndrome, often comorbid with ADHD, and in some cases with OCD.

  7. Recurrent posterior reversible encephalopathy syndrome in a hypertensive patient with end-stage renal disease.

    PubMed

    Ergün, Tarkan; Lakadamyali, Hatice; Yilmaz, Aynur

    2008-12-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity characterized by headache, variable mental status, epilepsy, visual disturbances, and typical transient changes in the posterior cerebral perfusion. Recurrence of PRES is not common, but increasingly in recent years, studies demonstrate recurrence of this syndrome in populations with different diseases. In this report, we describe recurrent PRES in a hypertensive patient with end-stage renal disease, and discuss recurrence as the least-characterized feature of PRES. This condition can cause neurological sequelae such as persistent brain damage and epilepsy, arising from delays in diagnosis and therapy. To the best of our knowledge, this is the first report demonstrating recurrent PRES in a patient on hemodialysis for end-stage renal disease.

  8. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients

    PubMed Central

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27322924

  9. Posterior reversible encephalopathy syndrome in a child with Henoch-Schönlein purpura

    PubMed Central

    Sivrioglu, Ali Kemal; Incedayi, Mehmet; Mutlu, Hakan; Meral, Cihan

    2013-01-01

    Henoch-Schönlein purpura (HSP) is a small vessel vasculitis that affects the gastrointestinal and central nervous systems and the kidneys. The disease primarily affects children, but may occur in elderly children with allergic purpura and also in adults. Central nervous system involvement may be the first sign; however, it is rarely encountered. Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome of encephalopathy, headache, visual disturbance and seizures. Its radiological signs can be observed in grey and white matter at the posterior region of the cerebral hemispheres. HSP should be considered in children with PRES in the presence of rash, joint and gastrointestinal symptoms. We reported a 5-year-old patient who developed acute renal failure and PRES by reason of HSP. PMID:23946524

  10. The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible encephalopathy.

    PubMed

    Striano, Salvatore; Striano, Pasquale; Coppola, Antonietta; Romanelli, Pantaleo

    2009-05-01

    Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small gamma-aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.

  11. Neuromyelitis Optica in Pregnancy Complicated by Posterior Reversible Encephalopathy Syndrome, Eclampsia and Fetal Death

    PubMed Central

    Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha

    2015-01-01

    Neuromyelitis optica (NMO) is a demyelinating syndrome characterized by optic neuritis and acute myelitis with poor recovery and a progressive course. We report a poor outcome complicated by posterior reversible encephalopathy syndrome (PRES) and eclampsia and review available literature and current evidence for anticipation of adverse fetal and maternal effects. After a pregnancy complicated by multiple admissions for painful NMO exacerbations, a primiparous patient with seropositive NMO presented at 31 + 3/7 weeks with eclampsia, HELLP and subsequent fetal death. MRI confirmed PRES. NMO may be associated with eclampsia and leads to adverse maternal and fetal outcomes. Posited mechanisms include antibody-mediated placental damage and a heightened risk of eclampsia-associated PRES. Further characterization of the course of NMO and its relationship with pregnancy outcomes in larger series would be invaluable. PMID:25584107

  12. Gemcitabine and Cisplatin induced posterior reversible encephalopathy syndrome: A case report with review of literature

    PubMed Central

    Kabre, Rohit Santosh; Kamble, Krishna Marotirao

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described, scarcely documented clinical entity. PRES is caused by various factors, the most common being hypertension, followed by nonhypertensive causes such as renal diseases and immunosuppressive therapy. Recently, some cases have been reported about the association of increased use of cytotoxic and immunosuppressive agents in cancer patients, and relevant reports have increased with advances in radiological examinations. Here, we report a case of gallbladder cancer with liver metastasis undergoing gemcitabine- and cisplatin-based chemotherapy who presented with complaints of seizures, headache, and bilateral lower limb weakness. Thorough clinical examination, biochemical analysis, and radiological evaluation led to diagnosis of PRES. It is important to recognize this syndrome which will facilitate early diagnosis and prompt symptomatic management. Removal of causative agent is an important aspect of management. Studies are needed to identify factors of adverse prognostic significance and to develop neuroprotective strategies. PMID:27843969

  13. Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation

    SciTech Connect

    Ninomiya, Shinsuke; Narahara, Kouji; Tsuji, Kazushiro

    1995-03-13

    The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3 {yields} q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome. 18 refs., 4 figs., 1 tab.

  14. Atypical Unilateral Posterior Reversible Encephalopathy Syndrome Mimicking a Middle Cerebral Artery Infarction.

    PubMed

    Çamlıdağ, İlkay; Cho, Yang-Je; Park, Mina; Lee, Seung Koo

    2015-01-01

    Posterior reversible encephalopathy syndrome (PRES) is usually a reversible clinical and radiological entity associated with typical features on brain MR or CT imaging. However, the not-so-uncommon atypical radiological presentations of the condition are also present and they may go unrecognised as they are confused with other conditions. Here, we report a very rare case of atypical, unilateral PRES in a 49-year-old uremic, post-transplant female patient who presented with seizures. Initial MRI showed high-grade occlusion of the left middle cerebral artery (MCA) and lesions suggestive of subacute infarction in the ipsilateral frontotemporoparietal lobe. Patient symptoms had resolved a day after the onset without any specific treatment but early follow-up CT findings suggested hemorrhagic transformation. Follow-up MRI performed 2 years later showed complete disappearence of the lesions and persisting MCA occlusion.

  15. Primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome.

    PubMed

    Hammad, Tariq A; Hajj-Ali, Rula A

    2013-08-01

    Primary angiitis of the central nervous system (PACNS) is one of the most devastating pathologic processes that affect the central nervous system (CNS). It results in exclusive inflammation and destruction of CNS blood vessels. Progressive debilitating unexplained neurological deficit associated with abnormal cerebrospinal fluid (CSF) analysis findings is the typical picture of the disease. CNS biopsy is the gold standard diagnostic test. Immunosuppressive therapy is the core treatment. Reversible cerebral vasoconstriction syndrome (RCVS) is a main mimic of PACNS. RCVS is characterized clinically by recurrent thunderclap headache with or without neurological deficit and normal CSF analysis findings and angiographically by reversible diffuse segmental vasospasm of intracranial vessels. A stepwise diagnostic approach should be followed to differentiate PACNS from RCVS and exclude the other clinical, radiographic, and angiographic mimics.

  16. Diffuse cerebrovascular dilation: Case report of amezinium metilsulfate-induced reversible cerebral vasoconstriction syndrome.

    PubMed

    Kobayashi, Makoto

    2016-03-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by recurrent thunderclap headaches with reversible cerebral vasoconstriction, and often precipitated by the postpartum state and vasoactive medications. We describe a case of a patient with RCVS induced by amezinium metilsulfate, a sympathomimetic drug, in whom magnetic resonance angiography (MRA) initially revealed diffusely dilated cerebral arteries. A 34-year-old woman was prescribed amezinium metilsulfate for hypotension. Twelve days later, she suffered from abrupt severe headaches and was referred to our department. She had no neurological deficits; however, MRA revealed diffusely dilated anterior, middle, and posterior cerebral arteries with vasoconstriction. She was tentatively diagnosed with RCVS and successfully treated with verapamil for headache. Nevertheless, follow-up MRAs disclosed widespread segmental vasoconstriction that resolved in two months. Diffuse cerebrovascular dilation has not been addressed but may be associated with RCVS pathophysiology. In addition, physicians should bear in mind that amezinium metilsulfate can potentially induce RCVS. © International Headache Society 2015.

  17. Reversible Cerebral Vasoconstriction Syndrome with Intracranial Hypertension: Should Decompressive Craniectomy Be Considered?

    PubMed Central

    Mrozek, Ségolène; Lonjaret, Laurent; Jaffre, Aude; Januel, Anne-Christine; Raposo, Nicolas; Boetto, Sergio; Albucher, Jean-François; Fourcade, Olivier; Geeraerts, Thomas

    2017-01-01

    Background Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cause of intracerebral hemorrhage (ICH) causing intracranial hypertension. Methods Case report. Results We report a case of RCVS-related ICH leading to refractory intracranial hypertension. A decompressive craniectomy was performed to control intracranial pressure. We discuss here the management of RCVS with intracranial hypertension. Decompressive craniectomy was preformed to avoid the risky option of high cerebral perfusion pressure management with the risk of bleeding, hemorrhagic complications, and high doses of norepinephrine. Neurological outcome was good. Conclusion RCVS has a complex pathophysiology and can be very difficult to manage in cases of intracranial hypertension. Decompressive craniectomy should probably be considered. PMID:28203185

  18. Posterior reversible encephalopathy syndrome in a hypertensive patient with renal failure.

    PubMed

    Aatif, T; El Farouki, M R; Benyahia, M

    2016-03-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical and neuroimaging entity characterized by headache, visual field deficits, changes in mentation and seizures, and by typical neuro-imaging features such as areas of sub-cortical edema, occasionally cortical, involving predominantly the occipital and parietal lobes of both hemispheres. Hypertension, uremia, immunosuppressive drugs neurotoxicity, preeclampsia or eclampsia, renal disease, and sepsis are the most common etiologies of PRES. Less common, it has been described in the setting of autoimmune disease. We report a case of PRES which was associated with hypertensive crisis in a patient with renal failure. Antihypertensive therapy and hemodialysis resulted in complete recovery.

  19. Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.

    PubMed

    Izzo, Antonella; Nitti, Maria; Mollo, Nunzia; Paladino, Simona; Procaccini, Claudio; Faicchia, Deriggio; Calì, Gaetano; Genesio, Rita; Bonfiglio, Ferdinando; Cicatiello, Rita; Polishchuk, Elena; Polishchuk, Roman; Pinton, Paolo; Matarese, Giuseppe; Conti, Anna; Nitsch, Lucio

    2017-01-13

    Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.

  20. An unusual presentation of a rare disease: posterior reversible encephalopathy syndrome following abdominal sepsis

    PubMed Central

    Richards, Carly R.N.; McMurray, Robert C.; Criman, Erik T.; Clark, Margaret E.; Gillern, Suzanne

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an unusual disease of unknown incidence and cause. There are a wide range of associated, predisposing medical causes to include pregnancy, renal failure, immunosuppressive medication administration and hypertension. The diagnosis is made following the radiographic identification of characteristic vasogenic edema in the setting of neurologic impairment. A significant portion of patients will have long-term, if not permanent, sequelae of the disease. We present a patient who developed PRES following a hemicolectomy that was complicated by an anastomotic leak. She went on to a complete recovery following surgical treatment of the leak and supportive care. PMID:27887021

  1. Lysergic acid amide-induced posterior reversible encephalopathy syndrome with status epilepticus.

    PubMed

    Legriel, Stephane; Bruneel, Fabrice; Spreux-Varoquaux, Odile; Birenbaum, Aurelie; Chadenat, Marie Laure; Mignon, François; Abbosh, Nathalie; Henry-Lagarrigue, Matthieu; Revault D'Allonnes, Laure; Guezennec, Pierre; Troche, Gilles; Bedos, Jean Pierre

    2008-01-01

    Posterior reversible encephalopathy syndrome (PRES) is known to occur in association with several substances. However, lysergic acid amide (LSA) is not among the previously reported causes of PRES. We report on a patient with PRES presenting as convulsive status epilepticus associated with hypertensive encephalopathy after LSA ingestion. Magnetic resonance imaging was performed and catecholamine metabolites assayed. The patient achieved a full recovery after aggressive antihypertensive therapy and intravenous anticonvulsivant therapy. The clinical history, blood and urinary catecholamine levels, and response to treatment strongly suggest that PRES was induced by LSA. LSA, a hallucinogenic agent chiefly used for recreational purposes, should be added to the list of causes of PRES.

  2. [A Case of Juvenile Cerebral Infarction due to Reversible Cerebral Vasoconstriction Syndrome].

    PubMed

    Koh, Masaki; Tsuboi, Yoshifumi; Fukuda, Osamu

    2016-11-01

    A 19-year-old woman had a thunderclap headache, followed by left hemiparesis and left homonymous hemianopsia. Laboratory tests showed no signs of infection and immunological test results were unremarkable. MRI revealed a cerebral infarction in the right posterior cerebral artery territory, and digital subtraction angiography(DSA)showed right posterior cerebral artery stenosis on day 2. The first follow-up DSA demonstrated an irregular, bead-like appearance on day 9, but the stenotic lesion returned to normal on day 21. Reversible cerebral vasoconstriction syndrome should be suspected in cases of rapid resolution of symptoms.

  3. Triptan-induced Reversible Cerebral Vasoconstriction Syndrome: Two Case Reports with a Literature Review.

    PubMed

    Kato, Yuji; Hayashi, Takeshi; Mizuno, Satoko; Horiuchi, Yohsuke; Ohira, Masayuki; Tanahashi, Norio; Takao, Masaki

    We encountered two patients with sumatriptan-induced reversible cerebral vasoconstriction syndrome (RCVS). The present patients were taking sumatriptan for the first time because they had been tentatively diagnosed with a migraine. On reviewing the literature, we found nine other cases of triptan-induced RCVS, predominantly among women aged 30 to 40 years. RCVS has been precipitated by triptan at the first ever use, after daily use, and even with long-term use at a normal dose. Patients with acute onset of severe headache should be thoroughly evaluated, and triptan should be administered appropriately. If triptan-induced RCVS is suspected, vascular imaging should be repeated after several days.

  4. Triptan-induced Reversible Cerebral Vasoconstriction Syndrome: Two Case Reports with a Literature Review

    PubMed Central

    Kato, Yuji; Hayashi, Takeshi; Mizuno, Satoko; Horiuchi, Yohsuke; Ohira, Masayuki; Tanahashi, Norio; Takao, Masaki

    2016-01-01

    We encountered two patients with sumatriptan-induced reversible cerebral vasoconstriction syndrome (RCVS). The present patients were taking sumatriptan for the first time because they had been tentatively diagnosed with a migraine. On reviewing the literature, we found nine other cases of triptan-induced RCVS, predominantly among women aged 30 to 40 years. RCVS has been precipitated by triptan at the first ever use, after daily use, and even with long-term use at a normal dose. Patients with acute onset of severe headache should be thoroughly evaluated, and triptan should be administered appropriately. If triptan-induced RCVS is suspected, vascular imaging should be repeated after several days. PMID:27904122

  5. Posterior Reversible Encephalopathy Syndrome with Extensive Deep White Matter Lesions Including the Temporal Pole

    PubMed Central

    Ohira, Junichiro; Mori, Nobuyuki; Kajikawa, Shunsuke; Nakamura, Takeshi; Arisato, Tetsuya; Takahashi, Makio

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) typically affects the posterior subcortical white matter. We report the case of a 55-year-old man with atypical PRES, who had malignant hypertension and renal dysfunction. Magnetic resonance imaging of the brain revealed extensive vasogenic edema in the deep white matter including the temporal pole, as well as in the brainstem and cerebellum. Antihypertensive therapy and hemodialysis contributed to both clinical and radiological improvement. Involvement of the deep white matter including the temporal pole, which is rarely affected in an ischemic stroke, should be recognized as a potential sign of PRES. PMID:27904123

  6. Reversible alterations in cardiac morphology and functions in a patient with Cushing's syndrome

    PubMed Central

    2014-01-01

    Summary A 45-year-old female was referred for endocrine evaluation of an incidental mass (31×24 mm in diameter) on the right adrenal gland. The patient was normotensive and nondiabetic, and had no history of generalised obesity (body weight, 46 kg at 20 years of age and 51.2 kg on admission); however, her waist-to-hip ratio was 0.97. Elevated urinary free cortisol levels (112–118 μg/day) and other findings indicated adrenocorticotrophic hormone-independent Cushing's syndrome due to right adrenocortical adenoma. Echocardiography before adrenalectomy revealed concentric left ventricular (LV) hypertrophy with a particular increase in interventricular septum thickness leading to impaired systolic and diastolic functions. Upon surgical remission of hypercortisolism, the asymmetric hypertrophy disappeared and the cardiac dysfunctions were considerably ameliorated. Although the mechanism(s) by which excessive cortisol contributes to LV wall thickness remain(s) unclear, serial echocardiography and cardiac multidetector-row computed tomography may support the notion that abnormal fat deposition in the myocardium owing to hypercortisolism appears to be an important factor for the reversible change in the cardiac morphology. Learning points Patients with Cushing's syndrome occasionally exhibit severe LV hypertrophy related to systolic and diastolic dysfunctions although they have neither hypertension nor diabetes mellitus.Biological remission of hypercortisolism can normalise structural and functional cardiac parameters and help in differentiating the cardiac alterations induced by excessive cortisol from those induced by other diseases.Excessive lipid accumulation within the heart before myocardial fibrosis may be implicated in reversible alterations in the cardiac morphology by Cushing's syndrome.Early diagnosis and treatment of Cushing's syndrome appear to be pivotal in preventing irreversible cardiac dysfunctions subsequent to cardiovascular events and heart

  7. Reversible cerebral vasoconstriction syndrome or primary angiitis of the central nervous system?

    PubMed

    Gerretsen, Philip; Kern, Ralph Z

    2007-11-01

    Reversible Cerebral Vasoconstriction Syndrome (RCVS) may present as thunderclap headache (TCH), accompanied by reversible cerebral vasospasm and focal neurological deficits, often without a clear precipitant. RCVS may be mistaken for Primary Angiitis of the Central Nervous System (PACNS) due to the presence of similar angiographic features of segmental narrowing of cerebral arteries. We discuss the clinical features of a young female migraine patient who developed TCH and was found to have RCVS following initial treatment with corticosteroids for PACNS, in the context of a systematic review of the available medical literature. A Medline search was performed to identify all case reports since 1966 describing RCVS and PACNS that provide sufficient clinical detail to permit diagnostic classification according to published criteria. RCVS included case studies in which there was angiographic or transcranial Doppler ultrasound evidence of near-to-complete resolution of cerebral vasoconstriction in the absence of a well-recognized secondary cause. PACNS included reports of histologically confirmed PACNS either through biopsy or necropsy. Reversible Cerebral Vasoconstriction Syndrome occurs primarily in females and is characterized by sudden, severe headache at onset, normal CSF analysis, vasoconstriction involving the Circle of Willis and its immediate branches, and angiographic or TCD ultrasound evidence of near-to-complete vasospastic resolution within 1-4 weeks. It occurs typically in the context of vasoconstrictive drug use, the peripartum period, bathing, and physical exertion. Initial and follow-up (within 4 weeks) non-invasive angiographic studies are indicated in patients who present with TCH or who have clinical presentations that could be consistent with RCVS or PACNS in the absence of a well-recognized secondary cause, such as subarachnoid haemorrhage. Early reversibility of cerebral vasospasm is the key neuroradiological feature that supports the clinical

  8. Metabolic anatomy of paraneoplastic cerebellar degeneration

    SciTech Connect

    Anderson, N.E.; Posner, J.B.; Sidtis, J.J.; Moeller, J.R.; Strother, S.C.; Dhawan, V.; Rottenberg, D.A.

    1988-06-01

    Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration (PCD)) were evaluated using neuropsychological tests and /sup 18/F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and metabolic abnormalities; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with PCD; and (3) correlate behavioral and metabolic measures of disease severity. Eighteen volunteer subjects served as normal controls. Although some PCD neuropsychological test scores were abnormal, these results could not, in general, be dissociated from the effects of dysarthria and ataxia. rCMRGlc was reduced in patients with PCD (versus normal control subjects) in all regions except the brainstem. Analysis of patient and control rCMRGlc data using a mathematical model of regional metabolic interactions revealed two metabolic pattern descriptors, SSF1 and SSF2, which distinguished patients with PCD from normal control subjects; SSF2, which described a metabolic coupling between cerebellum, cuneus, and posterior temporal, lateral frontal, and paracentral cortex, correlated with quantitative indices of cerebellar dysfunction. Our inability to document substantial intellectual impairment in 7 of 10 patients with PCD contrasts with the 50% incidence of dementia in PCD reported by previous investigators. Widespread reductions in PCD rCMRGlc may result from the loss of cerebellar efferents to thalamus and forebrain structures, a reverse cerebellar diaschisis.

  9. Cerebellar disorders: clinical/radiologic findings and modern imaging tools.

    PubMed

    Manto, Mario; Habas, Christophe

    2016-01-01

    Cerebellar disorders, also called cerebellar ataxias, comprise a large group of sporadic and genetic diseases. Their core clinical features include impaired control of coordination and gait, as well as cognitive/behavioral deficits usually not detectable by a standard neurologic examination and therefore often overlooked. Two forms of cognitive/behavioral syndromes are now well identified: (1) the cerebellar cognitive affective syndrome, which combines an impairment of executive functions, including planning and working memory, deficits in visuospatial skills, linguistic deficiencies such as agrammatism, and inappropriate behavior; and (2) the posterior fossa syndrome, a very acute form of cerebellar cognitive affective syndrome occurring essentially in children. Sporadic ataxias include stroke, toxic causes, immune ataxias, infectious/parainfectious ataxias, traumatic causes, neoplasias and paraneoplastic syndromes, endocrine disorders affecting the cerebellum, and the so-called "degenerative ataxias" (multiple system atrophy, and sporadic adult-onset ataxias). Genetic ataxias include mainly four groups of disorders: autosomal-recessive cerebellar ataxias, autosomal-dominant ataxias (spinocerebellar ataxias and episodic ataxias), mitochondrial disorders, and X-linked ataxias. In addition to biochemical studies and genetic tests, brain imaging techniques are a cornerstone for the diagnosis, clinicoanatomic correlations, and follow-up of cerebellar ataxias. Modern radiologic tools to assess cerebellar ataxias include: functional imaging studies, magnetic resonance spectroscopy, volumetric studies, and tractography. These complementary methods provide a multimodal appreciation of the whole long-range cerebellar network functioning, and allow the extraction of potential biomarkers for prognosis and rating level of recovery after treatment. © 2016 Elsevier B.V. All rights reserved.

  10. Iatrogenic postoperative cerebellar cyst.

    PubMed

    Sharif, Robin; Moscovici, Samuel; Wygoda, Marc; Eliahou, Ruth; Spektor, Sergey

    2016-12-01

    Cerebellar cyst is a known but uncommon entity. It is congenital in most cases, or may develop after brain parenchyma injuries or interventions. To our knowledge, de novo cerebellar cyst after extra-axial tumor excision, has not been described in the literature. We present the first reported case of a de novo cerebellar cyst developing in a 70-year-old woman following retrosigmoid craniotomy for vestibular schwannoma excision, and discuss the possible causes. Following cyst fenestration, there was no clinical or radiological evidence of a residual cyst. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. [PRES (Posterior Reversible Encephalopathy Syndrome): potential complication of hypertensive crisis. Case report and literature review].

    PubMed

    Vergura, Michele; Prencipe, Michele; Del Giudice, Antonio Maria; Grifa, Rachele; Miscio, Filomena; Pennelli, Anna Maria; Popolizio, Teresa; Simeone, Anna; Ferrara, Mariangela; Leone, Maurizio; Aucella, Filippo

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome, usually reversible, characterized by vasogenic oedema in cerebral posterior regions in patients with autoimmune diseases, nephropathies, hypertensive crisis, eclampsia and exposure to cytotoxic drugs. The main symptoms are: headache, nausea, vomiting, seizures, visual disturbance and altered consciousness. Complications as cerebral hemorrhage and recurrences are rare. We describe a case of a 65 years old woman, affected by chronic kidney disease, recently exacerbated, diabetes and hypertension in treatment, who showed an heterogeneous clinical presentation with vomiting, headache, blurred vision and impaired consciousness during an episode of acute hypertension. After an adjustement of the antihypertensive treatment we observed a regression of symptoms in one week. FLAIR sequences on MRI showed cerebral bilateral vasogenic oedema in posterior regions, typical for PRES. This case was suggestive for PRES and a prompt adjustement of the antihypertensive treatment was critical for clinical recovery. Brain MRI was crucial for diagnosis. It is important for clinicians to recognize PRES as a possible complication of renal disease and hypertensive crisis. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  12. Recurrent posterior reversible encephalopathy syndrome in a pediatric patient with end-stage renal disease.

    PubMed

    Daniel, Nicholas J; Hernandez, Cynthia L; Walker, Richard A

    2014-02-01

    Posterior reversible encephalopathy syndrome (PRES) is a condition manifested by altered mental status, seizures, headaches, and visual loss. Specific abnormalities are seen by computed tomography or magnetic resonance imaging. Awareness of this syndrome is important for Emergency Physicians because visual loss can be reversible with prompt treatment of the underlying cause. We present a case of recurrent PRES in a 14-year-old female who presented to the Emergency Department (ED) for headache and photosensitivity. A patient with a history of end-stage renal disease of unknown etiology was brought in by her mother for headache and photosensitivity. The patient developed blurry vision, seized in the ED, and required intubation. She was discharged 2 weeks later with complete return of vision. The same patient presented to the ED many times during the next several months for hypertensive emergencies, with three subsequent episodes that involved either seizures, vision loss, or both. Each of the episodes resolved with aggressive control of blood pressure in the pediatric intensive care unit. PRES should be considered in all patients presenting to the ED with visual loss, seizures, or headache, and can be recurrent in some individuals. Prompt treatment can help prevent permanent vision loss. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome.

    PubMed

    Robinson, Lianne; Guy, Jacky; McKay, Leanne; Brockett, Emma; Spike, Rosemary C; Selfridge, Jim; De Sousa, Dina; Merusi, Cara; Riedel, Gernot; Bird, Adrian; Cobb, Stuart R

    2012-09-01

    Rett syndrome is a neurological disorder caused by mutation of the X-linked MECP2 gene. Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including disturbances in motor function and abnormal patterns of breathing, accompanied by structural defects in central motor areas and the brainstem. Although routinely classified as a neurodevelopmental disorder, many aspects of the mouse phenotype can be effectively reversed by activation of a quiescent Mecp2 gene in adults. This suggests that absence of Mecp2 during brain development does not irreversibly compromise brain function. It is conceivable, however, that deep-seated neurological defects persist in mice rescued by late activation of Mecp2. To test this possibility, we have quantitatively analysed structural and functional plasticity of the rescued adult male mouse brain. Activation of Mecp2 in ∼70% of neurons reversed many morphological defects in the motor cortex, including neuronal size and dendritic complexity. Restoration of Mecp2 expression was also accompanied by a significant improvement in respiratory and sensory-motor functions, including breathing pattern, grip strength, balance beam and rotarod performance. Our findings sustain the view that MeCP2 does not play a pivotal role in brain development, but may instead be required to maintain full neurological function once development is complete.

  14. Posterior reversible encephalopathy syndrome--Insight into pathogenesis, clinical variants and treatment approaches.

    PubMed

    Granata, Guido; Greco, Antonio; Iannella, Giannicola; Granata, Massimo; Manno, Alessandra; Savastano, Ersilia; Magliulo, Giuseppe

    2015-09-01

    Posterior reversible encephalopathy syndrome is a rare clinicoradiological entity characterized by typical MRI findings located in the occipital and parietal lobes, caused by subcortical vasogenic edema. It was first described as a distinctive syndrome by Hinchey in 1996. Etiopathogenesis is not clear, although it is known that it is an endotheliopathy of the posterior cerebral vasculature leading to failed cerebral autoregulation, posterior edema and encephalopathy. A possible pathological activation of the immune system has been recently hypothesized in its pathogenesis. At clinical onset, the most common manifestations are seizures, headache and visual changes. Besides, tinnitus and acute vertigo have been frequently reported. Symptoms can be reversible but cerebral hemorrhage or ischemia may occur. Diagnosis is based on magnetic resonance imaging, in the presence of acute development of clinical neurologic symptoms and signs and arterial hypertension and/or toxic associated conditions with possible endotheliotoxic effects. Mainstay on the treatment is removal of the underlying cause. Further investigation and developments in endothelial cell function and in neuroimaging of cerebral blood flow are needed and will help to increase our understanding of pathophysiology, possibly suggesting novel therapies.

  15. A pediatric case of reversible cerebral vasoconstriction syndrome with cortical subarachnoid hemorrhage.

    PubMed

    Yoshioka, Seiichiro; Takano, Tomoyuki; Ryujin, Fukiko; Takeuchi, Yoshihiro

    2012-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a rare disorder characterized by acute onset, severe headache, with reversible vasoconstriction of cerebral arteries often accompanied by additional neurological symptoms. This syndrome is seen mainly in middle-aged adults, predominantly women. Herein, we report on a pediatric case of RCVS with cortical subarachnoid hemorrhage (SAH). A 12-year-old boy developed acute, severe headache with paralysis of lower extremities causing gait disturbance after administration of eletriptan. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) demonstrated sulcal hyperintensity on fluid-attenuated inversion recovery, consistent with cortical SAH. The patient's clinical symptoms resolved spontaneously after a few days and the MRI and MRA findings disappeared 3 months later, suggesting a diagnosis of RCVS. Eletriptan might cause vasoconstriction of cerebral arteries. Although most patients with RCVS are adults and pediatric cases are rare, RCVS should be considered in a child complaining of severe headache. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. A novel approach to diagnose reversible cerebral vasoconstriction syndrome: a case series.

    PubMed

    Kass-Hout, Tareq; Kass-Hout, Omar; Sun, Chung-Huan J; Kass-Hout, Taha; Ramakrishnan, Pankajavalli; Nahab, Fadi; Nogueira, Raul; Gupta, Rishi

    2015-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is classically diagnosed based on the presence of severe thunderclap headache, focal neurologic symptoms, and the radiographic findings of reversible diffuse segmental cerebral vasoconstriction. We present a diagnostic test that may assist in the clinical diagnosis and facilitate treatment. From October 1, 2010, to August 1, 2013, we identified consecutive patients who presented with a presumptive diagnosis of RCVS and underwent cerebral diagnostic angiography with intra-arterial (IA) vasodilator therapy. Medical records including clinical presentation, radiographic, and angiographic images were all reviewed. We identified a total of 7 patients (4 females; age range, 22-56; mean, 45 years) who met our inclusion criteria. Four patients received a combination of milrinone and nicardipine infusion either in the internal carotid arteries or in the left vertebral artery; the remaining patients received IA therapy solely with either nicardipine or milrinone. Five patients had a positive angiographic response, defined as significant improvement or resolution of the blood vessels irregularities. All 5 patients had a definite discharge diagnosis of RCVS. The remaining 2 patients had a negative angiographic response and based on their clinical and radiographic course had a final diagnosis of intracranial atherosclerotic disease. Our small case series suggest that IA administration of vasodilators is safe and may aid in distinguishing vasodilator responsive syndromes such as RCVS from other causes. Further study is required with long-term clinical outcome to determine the utility of this diagnostic test. Copyright © 2015. Published by Elsevier Inc.

  17. Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-02-01

    The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can reliably study the developing cerebellum. Pre- and postnatal neuroimaging plays a key role in the diagnostic work-up of congenital cerebellar abnormalities. Diagnostic criteria for cerebellar malformations and disruptions are based mostly on neuroimaging findings. The diagnosis of a Dandy-Walker malformation is based on the presence of hypoplasia, elevation, and counterclockwise upward rotation of the cerebellar vermis and cystic dilatation of the fourth ventricle, which extends posteriorly filling out the posterior fossa. For the diagnosis of Joubert syndrome, the presence of the molar tooth sign (thickened, elongated, and horizontally orientated superior cerebellar peduncles and an abnormally deep interpeduncular fossa) is needed. The diagnostic criteria of rhombencephalosynapsis include a complete or partial absence of the cerebellar vermis and continuity of the cerebellar hemispheres across the midline. Unilateral cerebellar hypoplasia is defined by the complete aplasia or hypoplasia of one cerebellar hemisphere. Familiarity with these diagnostic criteria as well as the broad spectrum of additional neuroimaging findings is important for a correct pre- and postnatal diagnosis. A correct diagnosis is essential for management, prognosis, and counseling of the affected children and their family.

  18. Various Imaging Manifestations of Posterior Reversible Encephalopathy Syndrome (PRES) on Magnetic Resonance Imaging (MRI)

    PubMed Central

    Raman, Rajesh; Devaramane, Radhika; Jagadish, Geetha Mukunda; Chowdaiah, Sanjana

    2017-01-01

    Summary Background Posterior reversible encephalopathy syndrome (PRES), also called the acute hypertensive encephalopathy and reversible posterior leukoencephalopathy syndrome (RPLS), is a neurotoxic syndrome of cerebral vasoregulation classically characterized by bilaterally symmetrical parieto-occipital edema. However, the imaging findings are variable and may occur in other locations such as the frontal lobes, thalami, basal ganglia and brainstem. Most commonly, PRES presents with hyperintense signals on T2 and FLAIR sequences. Restricted diffusion and hemorrhage are rare. This study presents the typical and atypical manifestations of PRES on 3T MR images. Material/Methods It is a retrospective study analyzing a radiology report database and MR images of 92 patients with a clinical and radiological diagnosis of PRES. The brain MRI images of these patients were evaluated. The regions involved and the signal intensity of the affected areas on T1, T2, FLAIR and DW sequences were recorded. The location of the abnormal signal intensity as well as the presence or absence of atypical features such as diffusion restriction and hemorrhage were also recorded. Results The most commonly affected region was the parieto-occipital lobes (100%), however, other atypical regions involved were the frontal lobes (30.4%), temporal lobes (8.69%), basal ganglia (22%), cerebellum(17.39%), brainstem(9%) and thalamus(4%). Some of the cases showed restricted diffusion (43%) and hemorrhage (9%). Conclusions The involvement of the parieto-occipital, frontal and temporal lobes is common in PRES. Occasionally, there may be an involvement of the basal ganglia, cerebellum and brainstem, with or without hemorrhage and restricted diffusion. Radiologists should be aware of the typical and atypical imaging manifestations of PRES in order to make an accurate diagnosis. PMID:28243339

  19. Reversible cerebral vasoconstriction syndrome and cervical artery dissection in 20 patients.

    PubMed

    Mawet, Jérôme; Boukobza, Monique; Franc, Julie; Sarov, Mariana; Arnold, Marcel; Bousser, Marie-Germaine; Ducros, Anne

    2013-08-27

    To describe clinical-radiologic characteristics in a prospective series of patients having both confirmed reversible cerebral vasoconstriction syndrome (RCVS) and cervical artery dissection (CeAD). From January 2004 to December 2011, from our prospective cohorts of RCVS and CeAD, we studied patients with both conditions. Of 173 RCVS cases and 285 CeAD cases, 20 patients (18 women, 2 men; mean age 41 years) had both RCVS and CeAD. Main associated conditions were migraine (12/20) and postpartum (5/18). Clinical features included severe headache in all patients, neck pain in 15, focal neurologic deficit in 9, and seizures in 4. Pain was the only symptom in 10 patients. All patients had multifocal cerebral vasoconstriction. There were brain lesions in 12 patients, cortical subarachnoid hemorrhage in 11, posterior reversible encephalopathy syndrome in 4, intracerebral hemorrhage in 3, and infarcts in 4. CeAD involved one artery in 13 patients and multiple arteries in 7. CeAD mostly affected vertebral arteries (25 of 30 CeAD). Only one vertebral CeAD was associated with a related symptomatic infarct. At 3 months, 18 patients had fully recovered, all patients showed reversal of cerebral vasoconstriction, and 21 dissected arteries had normalized, whereas 9 arteries showed residual stenosis (7) and/or aneurysm (3). The association of RCVS and CeAD was found in 12% of our patients with RCVS and 7% of our patients with CeAD. Underlying mechanisms are unknown. In practice, our results point to the need for a systematic study of both cervical and intracranial arteries in the 2 conditions.

  20. [Reversible cerebral vasoconstriction syndrome: A rare pediatric cause of thunderclap headaches].

    PubMed

    Trolliet, M; Sevely, A; Albucher, J-F; Nasr, N; Hachon Lecamus, C; Deiva, K; Cheuret, E

    2016-12-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by thunderclap headaches with diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months. We report on a case of a 13-year-old boy presenting with acute severe headaches, triggered by physical exertion. His past medical history was uneventful. Moderate headache persisted between exacerbations for 4 weeks. He secondarily presented with signs of intracranial hypertension. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries. A glucocorticoid treatment was started based on the hypothesis of primary angiitis of the CNS. The symptoms rapidly improved, and repeat angiography at 3 months showed no vasoconstriction. Although pediatric cases are rare, RCVS should be considered in a child complaining of severe headache, especially after the use of vasoactive drugs or after Valsalva manoeuvres. RCVS is attributed to a transient, reversible dysregulation of cerebral vascular tone, which leads to multifocal arterial constriction and dilation. Physical examination, laboratory values, and initial cranial computed tomography are unremarkable, except when RCVS is associated with complications. Thunderclap headaches tend to resolve and then recur over a 1- to 4-week period, often with a milder baseline headache persisting between acute exacerbations. Angiography shows segmental narrowing and dilatation of one or more arteries, like a string of beads. Despite the absence of a proven treatment, important steps should be taken during the acute phase: removal of precipitants such as vasoactive substances, giving the patient rest, lowering blood pressure, and controlling seizures. Drugs targeted at vasospasms, such as calcium channel inhibitors, can be considered when cerebral vasoconstriction has been assessed. In most patients, the RCVS symptoms resolve spontaneously within days or weeks. Ischemic and hemorrhagic stroke are the major

  1. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

    PubMed

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S

    2014-06-01

    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

  2. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

    PubMed Central

    Marrone, Anna; Walne, Amanda; Tamary, Hannah; Masunari, Yuka; Kirwan, Michael; Beswick, Richard; Vulliamy, Tom; Dokal, Inderjeet

    2010-01-01

    Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized, particularly families displaying autosomal recessive (AR) inheritance. We have now identified novel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented with classical DC or the more severe variant, Hoyeraal-Hreidarsson (HH) syndrome. These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patients were observed to have higher-than-expected TERC levels compared with controls. Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. PMID:17785587

  3. Acute cerebellar ataxia

    MedlinePlus

    ... movement due to disease or injury to the cerebellum in the brain. ... of acute cerebellar ataxia include: Abscess of the cerebellum Alcohol, medications, and insecticides Bleeding into the cerebellum ...

  4. Primary cerebellopontine progressive multifocal leukoencephalopathy diagnosed premortem by cerebellar biopsy.

    PubMed

    Jones, H R; Hedley-Whyte, E T; Freidberg, S R; Kelleher, J E; Krolikowski, J

    1982-02-01

    A subacute progressive cerebellar brainstem syndrome developed in a patient with systemic lupus erythematosus in remission. Cerebellar biopsy documented the diagnosis of progressive multifocal leukoencephalopathy (PML). Data from this patient and 10 others in the literature emphasize the need to consider this diagnosis when ataxia develops in any patient with underlying malignancy, chronic infection, or other disease that involves immunological incompetence. Although the ataxic form of PML is not of nosological relevance, early diagnosis may eventually have therapeutic importance.

  5. [Autosomal recessive cerebellar ataxias].

    PubMed

    Tranchant, Christine; Anheim, Mathieu

    2009-12-01

    Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.

  6. Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

    PubMed Central

    Bhaskar, P. A.; Jagannathan, K.; Valmikinathan, K.

    1974-01-01

    Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes. Images PMID:4448994

  7. SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

    PubMed

    Svenstrup, Kirsten; Nielsen, Troels Tolstrup; Aidt, Frederik; Rostgaard, Nina; Duno, Morten; Wibrand, Flemming; Vinther-Jensen, Tua; Law, Ian; Vissing, John; Roos, Peter; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik

    2017-02-01

    The spinocerebellar ataxias (SCA) are a group of rare inherited neurodegenerative diseases characterized by slowly progressive cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria. The disorders are predominantly inherited in an autosomal dominant manner. Mutations in the gene AFG3L2 that encodes a subunit of the mitochondrial m-AAA protease have previously been shown to cause spinocerebellar ataxia type 28 (SCA28). Here, we present the clinical phenotypes of three patients from a family with autosomal dominant cerebellar ataxia and show by molecular genetics and in silico modelling that this is caused by a novel missense mutation in the AFG3L2 gene. Furthermore, we show, for the first time, fluorodeoxyglucose-positron emission tomography (FDG-PET) scans of the brain and selective type I fiber atrophy of skeletal muscle of SCA28 patients indicating non-nervous-system involvement in SCA28 as well.

  8. Posterior reversible encephalopathy syndrome (PRES) with immune system activation, VEGF up-regulation, and cerebral amyloid angiopathy.

    PubMed

    Kofler, Julia; Bartynski, Walter S; Reynolds, Thomas Q; Lieberman, Frank S; Murdoch, Geoffrey H; Hamilton, Ronald L

    2011-01-01

    The case of a 75-year-old man with a history of lymphoma, recent upper respiratory tract infection, and a protracted course of encephalopathy is presented. Radiologically, findings were consistent with posterior reversible encephalopathy syndrome. A brain biopsy revealed evidence of endothelial activation, T-cell trafficking, and vascular endothelial growth factor expression, suggesting that systemic immune system activation may be involved with triggering posterior reversible encephalopathy syndrome. In addition, underlying cerebral amyloid angiopathy may have contributed to the initial nonclassical edema distribution by compromising autoregulatory blood flow mechanisms.

  9. Reversible posterior leukoencephalopathy syndrome in a patient with multiple system atrophy: a possible association with oral midodrine treatment.

    PubMed

    Kim, Joong-Seok; Lee, Kwang-Soo; Lim, Sung-Chul; Ahn, Jae-Young; Song, In-Uk; Kim, Yeong-In; Kim, Bum-Soo; Kim, Hee-Tae

    2007-05-15

    We describe a 51-year-old man with a 3-year history of multiple system atrophy, who developed a reversible posterior leukoencephalopathy syndrome (RPLS) after receiving prescription midodrine for therapeutic treatment of orthostatic hypotension. Typical reversible magnetic resonance imaging findings, following treatment with midodrine, suggested a possible relationship between midodrine treatment, supine hypertension, and RPLS, although a cause-and-effect relationship cannot be confirmed. (c) 2007 Movement Disorder Society.

  10. A common cause of sudden and thunderclap headaches: reversible cerebral vasoconstriction syndrome.

    PubMed

    Cheng, Yu-Chen; Kuo, Kuei-Hong; Lai, Tzu-Hsien

    2014-03-01

    Thunderclap headache (TCH) is a sudden headache (SH) with accepted criteria of severe intensity and onset to peak within one minute. It is a well-known presentation for subarachnoid hemorrhage (SAH) but most patients with TCH or SH run a benign course without identifiable causes. Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome characterized by recurrent TCH attacks, has been proposed to account for most of these patients. We recruited consecutive patients presenting with SH at our headache clinic. Computed tomography and/or magnetic resonance imaging with angiography were performed to exclude structural causes and to identify vasoconstriction. Catheter angiography and lumbar puncture were performed with patients consent. Reversibility of vasoconstriction was confirmed by follow-up study. From July 2010 to June 2013, 31 patients with SH were recruited. Twenty-four (72.7%) of these SH patients exhibited headache fulfilling the TCH criteria. The diagnosis of RCVS was confirmed in 14 (45.2%) of patients with SH and 11 (45.8%) of patients with TCH. Other diagnoses were as follows: primary headaches (SH: 41.9%, TCH: 45.8%) and other secondary causes (SH: 12.9%, TCH: 8.3%). Compared with non-RCVS patients, patients with RCVS were older (50.8 ± 9.3 years vs. 40.8 ± 10.0 years, P = 0.006) and less likely to experience short headache duration of < 1 hour (23.1% vs. 78.6%, P = 0.007). Patients with RCVS were more likely to cite bathing (42.9% vs. 0%, P = 0.004) and less likely to cite exertion (0% vs. 29.4%, P = 0.048) as headache triggers. Reversible cerebral vasoconstriction syndrome is a common cause of SH and TCH. Considering the potential mortality and morbidity of RCVS, systemic examination of cerebral vessels should be performed in these patients.

  11. A common cause of sudden and thunderclap headaches: reversible cerebral vasoconstriction syndrome

    PubMed Central

    2014-01-01

    Background Thunderclap headache (TCH) is a sudden headache (SH) with accepted criteria of severe intensity and onset to peak within one minute. It is a well-known presentation for subarachnoid hemorrhage (SAH) but most patients with TCH or SH run a benign course without identifiable causes. Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome characterized by recurrent TCH attacks, has been proposed to account for most of these patients. Methods We recruited consecutive patients presenting with SH at our headache clinic. Computed tomography and/or magnetic resonance imaging with angiography were performed to exclude structural causes and to identify vasoconstriction. Catheter angiography and lumbar puncture were performed with patients consent. Reversibility of vasoconstriction was confirmed by follow-up study. Results From July 2010 to June 2013, 31 patients with SH were recruited. Twenty-four (72.7%) of these SH patients exhibited headache fulfilling the TCH criteria. The diagnosis of RCVS was confirmed in 14 (45.2%) of patients with SH and 11 (45.8%) of patients with TCH. Other diagnoses were as follows: primary headaches (SH: 41.9%, TCH: 45.8%) and other secondary causes (SH: 12.9%, TCH: 8.3%). Compared with non-RCVS patients, patients with RCVS were older (50.8 ± 9.3 years vs. 40.8 ± 10.0 years, P = 0.006) and less likely to experience short headache duration of < 1 hour (23.1% vs. 78.6%, P = 0.007). Patients with RCVS were more likely to cite bathing (42.9% vs. 0%, P = 0.004) and less likely to cite exertion (0% vs. 29.4%, P = 0.048) as headache triggers. Conclusions Reversible cerebral vasoconstriction syndrome is a common cause of SH and TCH. Considering the potential mortality and morbidity of RCVS, systemic examination of cerebral vessels should be performed in these patients. PMID:24580731

  12. Unilateral cerebellar hypoplasia with different clinical features.

    PubMed

    Benbir, Gulcin; Kara, Simay; Yalcinkaya, Beyza Citci; Karhkaya, Geysu; Tuysuz, Beyhan; Kocer, Naci; Yalcinkaya, Cengiz

    2011-03-01

    Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia.

  13. Korsakoff syndrome from retrochiasmatic suprasellar lesions: rapid reversal after relief of cerebral compression in 4 cases.

    PubMed

    Savastano, Luis E; Hollon, Todd C; Barkan, Ariel L; Sullivan, Stephen E

    2017-06-02

    Korsakoff syndrome is a chronic memory disorder caused by a severe deficiency of thiamine that is most commonly observed in alcoholics. However, some have proposed that focal structural lesions disrupting memory circuits-in particular, the mammillary bodies, the mammillothalamic tract, and the anterior thalamus-can give rise to this amnestic syndrome. Here, the authors present 4 patients with reversible Korsakoff syndromes caused by suprasellar retrochiasmatic lesions compressing the mammillary bodies and adjacent caudal hypothalamic structures. Three of the patients were found to have large pituitary macroadenomas in their workup for memory deficiency and cognitive decline with minimal visual symptoms. These tumors extended superiorly into the suprasellar region in a retrochiasmatic position and caused significant mass effect in the bilateral mammillary bodies in the base of the brain. These 3 patients had complete and rapid resolution of amnestic problems shortly after initiation of treatment, consisting of resection in 1 case of nonfunctioning pituitary adenoma or cabergoline therapy in 2 cases of prolactinoma. The fourth patient presented with bizarre and hostile behavior along with significant memory deficits and was found to have a large cystic craniopharyngioma filling the third ventricle and compressing the midline diencephalic structures. This patient underwent cyst fenestration and tumor debulking, with a rapid improvement in his mental status. The rapid and dramatic memory improvement observed in all of these cases is probably due to a reduction in the pressure imposed by the lesions on structures contiguous to the third ventricle, rather than a direct destructive effect of the tumor, and highlights the essential role of the caudal diencephalic structures-mainly the mammillary bodies-in memory function. In summary, large pituitary lesions with suprasellar retrochiasmatic extension and third ventricular craniopharyngiomas can cause severe Korsakoff

  14. Reversible cerebral vasoconstriction syndrome following red blood cells transfusion: a case series of 7 patients.

    PubMed

    Liang, Hui; Xu, Ziqi; Zheng, Zhijun; Lou, Haiyan; Yue, Wei

    2015-04-22

    Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent disease characterized by severe headaches with or without focal neurological deficits or seizures and a reversible vasoconstriction of cerebral arteries. The Orpha number for RCVS is ORPHA284388. However, RCVS triggered by blood transfusion is rare. Here we provided the clinical, neuroimaging and outcome data of patients diagnosed with RCVS resulting from red blood cells transfusion. We retrospectively identified 7 patients presenting with RCVS after red blood cells transfusion from January 2010 to May 2014. The information on clinical features, neuroimaging and outcome were collected and analyzed. All 7 patients were Chinese women, with a mean age of 42 years (38-46). All the patients had severe anemia (Hb level < 6 g/dl) caused by primary menorrhagia due to uterine myoma (n = 5) or end-stage renal disease (n = 2) and severe anemia persisted for a average period of 4 months (2-6). Each patient received packed red blood cells transfusion (average: 1580 ml) over a period of 2-5 days. Blood transfusion increased the hemoglobin level by at least 4.5 g/dL from baseline. The neurological symptoms appeared a mean of 6.3 days (2-13) after the last blood transfusion. Headache was the most frequent symptom and seizure, transient or persistent neurological disorders were observed. Neuroimaging showed cortical subarachnoid hemorrhage (n = 2), focal intracerebral hemorrhage (n = 2), localized brain edema (n = 3), cerebral infarction (n = 1), and posterior reversible encephalopathy syndrome (n = 2). Cerebral vasoconstrictions were demonstrated by magnetic resonance angiography or cerebral angiography. Arterial constriction reversed in all patients within 1 to 3 months of follow-up after disease onset and no relapse was observed up to a mean of 17.1 ± 4.8 months of follow-up. RCVS is a rare complication as a result of blood transfusion in patients with chronic

  15. Electrodiagnosis of reversible conduction failure in Guillain-Barré syndrome.

    PubMed

    Chan, Yee-Cheun; Punzalan-Sotelo, Aubrey M; Kannan, Therimadasamy A; Shahrizaila, Nortina; Umapathi, Thirugnanam; Goh, Eunice J H; Fukami, Yuki; Wilder-Smith, Einar; Yuki, Nobuhiro

    2017-01-17

    In this study we propose electrodiagnostic criteria for early reversible conduction failure (ERCF) in axonal Guillain-Barré syndrome (GBS) and apply them to a cohort of GBS patients. Serial nerve conduction studies (NCS) were retrospectively analyzed in 82 GBS patients from 3 centers. The criteria for the presence of ERCF in a nerve were: (i) a 50% increase in amplitude of distal compound muscle action potentials or sensory nerve action potentials; or (ii) resolution of proximal motor conduction block with an accompanying decrease in distal latencies or compound muscle action potential duration or increase in conduction velocities. Of 82 patients from 3 centers, 37 (45%) had ERCF, 21 (26%) had a contrasting evolution pattern, and 8 (10%) had both. Sixteen patients did not show an amplitude increase of at least 50%. Our proposed criteria identified a group of patients with a characteristic evolution of NCS abnormality that is consistent with ERCF. Muscle Nerve, 2017. © 2017 Wiley Periodicals, Inc.

  16. Reversible Cerebral Vasoconstriction Syndrome With Involvement of External Carotid Artery Branches

    PubMed Central

    Shaik, S.; Chhetri, S. K.; Roberts, G.; Wuppalapati, S.

    2014-01-01

    A 44-year-old woman presented with recurrent episodes of thunderclap headache. Neurological examination and computed tomography brain imaging were unremarkable. Cerebrospinal fluid findings were consistent with subarachnoid hemorrhage. Computed tomography angiography of the circle of Willis showed multiple areas of segmental vasoconstriction. This finding was confirmed on cerebral catheter angiography, with segmental vasoconstriction involving bilateral internal carotid, posterior cerebral, and external carotid branches. No aneurysm or other vascular abnormality was identified. She received treatment with nimodipine. A selective serotonin reuptake inhibitor, started 4 weeks earlier, was discontinued. Follow-up angiography after 3 months demonstrated complete resolution of the segmental vasoconstriction, confirming the diagnosis of reversible cerebral vasoconstriction syndrome (RCVS). She remained headache free at follow-up. To our knowledge, external carotid artery branch involvement in RCVS has been described only in one previous occasion. PMID:24982719

  17. Hypertensive posterior reversible encephalopathy syndrome causing posterior fossa edema and hydrocephalus.

    PubMed

    Grossbach, Andrew J; Abel, Taylor J; Hodis, Brendan; Wassef, Shafik N; Greenlee, Jeremy D W

    2014-02-01

    Posterior reversible encephalopathy syndrome (PRES) is a well characterized entity resulting from the inability of cerebral autoregulation to adequately protect the brain from uncontrolled hypertension. It primarily affects the occipital lobes, but can also involve the structures in the posterior fossa including the brainstem and cerebellum. Treatment usually consists of strict blood pressure control, but more aggressive management may be indicated with acutely worsening neurological status. We present a patient with hypertensive encephalopathy that resulted in hydrocephalus and brainstem compression necessitating surgical decompression requiring ventriculostomy and suboccipital craniectomy. In rare cases, PRES can present with severe brainstem compression requiring emergent posterior fossa decompression. When brainstem signs are present on exam, emergent posterior fossa decompression may be safer than ventriculostomy alone. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Reverse Shapiro's syndrome--an unusual cause of fever of unknown origin.

    PubMed

    Lin, Kuang-Lin; Wang, Huei-Shyong

    2005-09-01

    Reverse Shapiro's syndrome was first described by Hirayama et al. in a girl with periodic hyperthermia associated with complete agenesis of the corpus callosum. Here we report another such case in a 9-month-old girl presenting with fever of unknown origin since the age of 7 months. On examination, she had mild hypotonia with delayed developmental milestones. No other neurological or physical abnormalities were noted. The cause of her prolonged fever of unknown origin was investigated and all results were negative. Her brain magnetic resonance images showed agenesis of the corpus callosum. On the basis of the previous literature, we suggest that the periodic hyperthermia of this girl was caused by dopaminergic denervation of the hypothalamic thermoregulatory center. Treatment with dopamine agonists (levodopa plus carbidopa) failed to control the hyperthermia.

  19. Call-fleming syndrome (reversible cerebral artery vasoconstriction) and aneurysm associated with multiple recreational drug use.

    PubMed

    Drazin, Doniel; Alexander, Michael J

    2013-01-01

    Drug abuse represents a significant health issue. Evidence suggests that recreational drug use has a direct effect on the cerebral vasculature and is of greater concern in those with undiagnosed aneurysms or vascular malformations. The authors report a case of thunderclap headache with a negative head CT and equivocal lumbar puncture after a drug-fueled weekend. The patient underwent diagnostic cerebral angiogram which demonstrated multisegmental, distal areas of focal narrowing of the middle, anterior, posterior, and posterior inferior cerebral artery and an incidental aneurysm. It is often difficult to determine the exact origin of symptoms; thus we were left with a bit of a chicken or the egg debate, trying to decipher which part came first. Either the aneurysm ruptured with associated concomitant vasospasm or it is a case of Call-Fleming syndrome (reversible cerebral artery vasoconstriction) with an incidental aneurysm. The authors proposed their management and rationale of this complex case.

  20. The reversible cerebral vasoconstriction syndrome in association with venlafaxine and methenamine

    PubMed Central

    Davies, G; Wilson, H; Wilhelm, T; Bowler, J

    2013-01-01

    The reversible cerebral vasoconstriction syndrome (RCVS) is characterised by thunderclap headache and multifocal vasoconstriction of cerebral arteries on angiography. It is often drug induced, but it can occur postpartum, and as a result of a number of other precipitants. To make the diagnosis, it is necessary to exclude other causes of severe headache (such as aneurysmal subarachnoid haemorrhage, carotid dissection and primary angiitis of the central nervous system). However, it is also important to show that the vasoconstriction has resolved with repeat angiography at the 3-month stage. Here we report two cases of RCVS in association with venlafaxine and the urinary antiseptic, methenamine. Serotonin–norepinephrine reuptake inhibitors have recently been reported as a possible precipitant, but this is the first report to implicate methenamine. Although RCVS is relatively uncommon, it should be considered in the differential of those presenting with thunderclap headache. PMID:23771970

  1. Reversible cerebral vasoconstriction syndrome in a patient with systemic lupus erythematosus.

    PubMed

    Ashraf, V V; Bhasi, Ramesh; Ramakrishnan, K G; Praveenkumar, R; Girija, A S

    2012-01-01

    A 42-year-old woman, a diagnosed case of systemic lupus erythematosus (SLE), developed severe headache followed by left hemiparesis and cortical blindness. Magnetic resonance imaging (MRI) of brain demonstrated right parieto-occipital infarct and the patient was initiated on high-dose steroids and antiplatelet agents with which the patient had clinical and radiological deterioration. Magnetic Resonance angiography showed severe narrowing of bilateral anterior, middle, and posterior cerebral arteries (PCA) suggestive of reversible cerebral vasoconstriction syndrome (RCVS). Patient was treated with IV nimodipine and she recovered over a period of 2 weeks. Repeat MR-angiography done on day-30 was normal. The diagnosis of RCVS in patients with SLE is of practical importance, because treatment and prognosis for SLE-associated cerebral vasculitis differ strongly from the treatment of RCVS. Empirical high-dose glucocorticoid therapy should be avoided in patients with typical features of RCVS.

  2. The reversible cerebral vasoconstriction syndrome in association with venlafaxine and methenamine.

    PubMed

    Davies, G; Wilson, H; Wilhelm, T; Bowler, J

    2013-06-13

    The reversible cerebral vasoconstriction syndrome (RCVS) is characterised by thunderclap headache and multifocal vasoconstriction of cerebral arteries on angiography. It is often drug induced, but it can occur postpartum, and as a result of a number of other precipitants. To make the diagnosis, it is necessary to exclude other causes of severe headache (such as aneurysmal subarachnoid haemorrhage, carotid dissection and primary angiitis of the central nervous system). However, it is also important to show that the vasoconstriction has resolved with repeat angiography at the 3-month stage. Here we report two cases of RCVS in association with venlafaxine and the urinary antiseptic, methenamine. Serotonin-norepinephrine reuptake inhibitors have recently been reported as a possible precipitant, but this is the first report to implicate methenamine. Although RCVS is relatively uncommon, it should be considered in the differential of those presenting with thunderclap headache.

  3. Reversible cerebral vasoconstriction syndrome with multivessel cervical artery dissections and a double aortic arch.

    PubMed

    Nouh, Amre; Ruland, Sean; Schneck, Michael J; Pasquale, David; Biller, José

    2014-02-01

    Reversible cerebral vasoconstriction syndrome (RCVS) has been associated with exposure to vasoactive substances and few reports with cervical arterial dissections (CADs). We evaluated a 32-year-old woman with history of depression, migraines without aura, and cannabis use who presented with a thunderclap headache unresponsive to triptans. She was found to have bilateral occipital infarcts, bilateral extracranial vertebral artery dissections, bilateral internal carotid artery dissecting aneurysms, and extensive distal multifocal segmental narrowing of the anterior and posterior intracranial circulation with a "sausage on a string-like appearance" suggestive of RCVS. Subsequently, she was found to have a distal thrombus of the basilar artery, was anticoagulated, and discharged home with no residual deficits. We highlight the potential association of CADs and RCVS. The association of RCVS and a double aortic arch has not been previously reported. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  4. [A clinical analysis of reninoma-induced hypertensive crisis associated with reversible posterior encephalopathy syndrome].

    PubMed

    Wu, Hong-hua; Wang, Guang-ya; Ma, Xiao-wei; Guo, Xiao-hui

    2012-01-01

    Reninoma is a rare benign tumor of the renal juxtaglomerular cell apparatus that causes hypertension and hypokalemia via hypersecretion of renin, while it is extremely rare that reninoma induced hypertensive crisis with reversible posterior encephalopathy syndrome (RPES). To improve the clinical understanding for this disease, we conducted a case-analysis. To analyze the clinical and pathological data of a case of reninoma-induced hypertensive crisis with reversible posterior encephalopathy syndrome, who was admitted to Peking University First Hospital in November, 2007 and follow-up. This was a 16-year old female patient, onset with suddenly spasm with loss of consciousness, while blood pressure stepped up to 210/140 mm Hg (1 mm Hg = 0.133 kPa), and the head magnetic resonance imaging (MRI) revealed "multiple long-T(2) signal", and hypokalemia (2.8 - 3.2 mmol/L), urine protein positive, ultrasound cardiogram revealed left ventricular hypertrophy, laboratory study revealed hyperreninism (38.23 ng·ml(-1)×h(-1), normal range 0.07 - 1.15 ng·ml(-1)×h(-1)) and hyperaldosteronism (660.9 ng/L, normal range 60 - 174 ng/L), abdominal CT-Scan revealed a mass at right kidney, blood pressure achieved safety range and the head MRI was rechecked and revealed "the abnormal long-T(2) signal disappeared". The clinical diagnosis was reninoma induced hypertensive crisis with RPES. The tumor was resected and the pathologic diagnosis was reninoma. The patient remained normotensive in the postoperative period without any medication. Reninoma represents a rare but surgically curable cause of hypertension, thus the clinical suspicion of it is very important in young patients. If the diagnosis is confirmed, positive treatment must be done immediately to improve the prognosis. The most common cause of RPES is hypertension, and the diagnosis depends on the distinctive head MRI. There is always a good prognosis with the decline of blood pressure rapidly.

  5. Blood-brain barrier breakdown in reversible cerebral vasoconstriction syndrome: Implications for pathophysiology and diagnosis.

    PubMed

    Lee, Mi Ji; Cha, Jihoon; Choi, Hyun Ah; Woo, Sook-Young; Kim, Seonwoo; Wang, Shuu-Jiun; Chung, Chin-Sang

    2017-03-01

    Diagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to vasoconstriction, the blood-brain barrier (BBB) breakdown has been postulated as a central mechanism of RCVS. Our aim was to document BBB breakdown in patients with RCVS and its role for the pathophysiology-based diagnosis of RCVS. We prospectively recruited 72 consecutive patients with thunderclap headache who did not have aneurysmal subarachnoid hemorrhage from April 2015 to July 2016 at the Samsung Medical Center. Based on the International Classification of Headache Disorders-3 beta criteria and neuroimaging, patients were classified as having RCVS (n = 41; "definite" in 29 imaging-proven patients and "probable" in 12 imaging-negative patients), other secondary causes (n = 7), and thunderclap headache of undetermined cause (n = 24). BBB breakdown was evaluated using contrast-enhanced fluid-attenuated inversion recovery magnetic resonance imaging. BBB breakdown was documented in 20 (69.0%) patients with definite RCVS, 3 (25.0%) patients with probable RCVS, and none with other secondary causes. BBB breakdown was present in RCVS patients with (n = 4) and without (n = 19) concomitant posterior reversible encephalopathy syndrome. In patients with RCVS, the extent of BBB breakdown was independently associated with neurological complications (multivariate odds ratio = 1.48 per 1 territorial increase, 95% confidence interval = 1.04-2.12, adjusted p = 0.032). Three (12.5%) patients with thunderclap headache of undetermined cause were newly classified as having RCVS by the presence of BBB breakdown. This is the first study to show BBB breakdown in patients with RCVS. This finding might broaden our understanding of the pathophysiology and clinical spectrum of RCVS. Ann Neurol 2017;81:454-466. © 2017 American Neurological Association.

  6. Status Epilepticus and Blindness in a Patient with Carfilzomib-Associated Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Ebrahem, Rawaa; Cooper, Scott; Manlove, Emily; Lee, Ricky

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurological condition characterized by headaches, visual disturbances, and seizures. A magnetic resonance imaging (MRI) scan of an affected brain typically shows symmetrical white matter edema in the posterior cerebral hemispheres. The onset of PRES can constitute a medical emergency, especially when accompanied by status epilepticus. If promptly recognized and treated, the clinical syndrome and associated radiological findings are usually resolved in a matter of weeks or months. Carfilzomib is a proteasome inhibitor that is newly approved for relapsing myeloma in a patient who has received one or more lines of therapy. In this paper, we report on a 52-year-old female on carfilzomib for multiple myeloma who developed PRES following her second dose of treatment. She was admitted for chronic obstructive pulmonary disease (COPD) exacerbation, and while she was in the hospital, she developed a severe headache, blindness, and status epilepticus. A brain MRI showed signs consistent with PRES. After carfilzomib was discontinued, her symptoms resolved within three days. Unfortunately, the patient passed away shortly after being discharged, so there was no opportunity to perform a repeat MRI. PMID:28357173

  7. Dramatic Intracerebral Hemorrhagic Presentations of Reversible Cerebral Vasoconstriction Syndrome: Three Cases and a Literature Review

    PubMed Central

    Stary, Joel M.; Wang, Bonnie H.; Moon, Seong-Jin; Wang, Huan

    2014-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) refers to a number of disorders characterized by severe and sudden-onset (“thunderclap”) headaches and angiographic features of reversible, segmental, multifocal vasoconstriction of cerebral arteries. Although RCVS generally resolves without significant sequelae, a rare and possibly underrecognized hemorrhagic presentation has a worse potential course. We report three cases of hemorrhagic RCVS and review the literature. Three females (42, 54, and 33 years old, resp.) presented with severe headache, neurological deficits, and dramatic intracerebral hemorrhage (ICH). Patient 1 presented comatose with a 9 × 4 × 6.6 cm left deep intraparenchymal hemorrhage (IPH) and 1 cm midline shift. She underwent emergent surgical intervention. Patient 2 had a 3.3 × 1.5 cm left superior frontal IPH that enlarged to 4 × 2.5 cm within 12 hours with worsening headache and neurological deficits. She was successfully managed nonoperatively. Patient 3, after uncomplicated pregnancy and delivery, presented with a 1.5 cm left superior parietal IPH on postpartum day 7. Two days later, she acutely developed right hemiplegia. Repeat CT demonstrated a new 3.3 × 1.7 cm left frontal IPH. She was also successfully managed nonoperatively. Many diverse conditions are grouped within the category of RCVS. Dramatic ICH remains a rare and possibly underrecognized presenting feature. Prompt diagnosis and management are essential for obtaining the best outcome. PMID:24707417

  8. Reversible cerebral vasoconstriction syndrome with limb myoclonus following intravenous administration of methylergometrine.

    PubMed

    Ishibashi, Tomoko; Ishibashi, Satoru; Uchida, Tokujiro; Nakazawa, Koichi; Makita, Koshi

    2011-06-01

    Neurological deficits associated with methylergometrine have been reported primarily as a result of reversible cerebral vasoconstriction syndromes (RCVS). RCVS are characterized by reversible multifocal vasoconstrictions of the cerebral arteries heralded by acute severe headache with or without neurological deficits. Here, we present the first case of suspected RCVS with transient limb myoclonus following the intravenous administration of methylergometrine during cesarean section. A 31-year-old woman who received slowly infused intravenous methylergometrine during a cesarean section suddenly reported severe occipital headache after 40 min, followed by apnea and unconsciousness for 8 min. A second administration of methylergometrine to treat the weakness of her uterine contractions resulted in a repeated loss of consciousness within minutes and the development of limb myoclonus. No abnormalities were detected by brain computerized tomography, magnetic resonance imaging, and electroencephalogram. She fully recovered spontaneously within 12 h. We consider that the transient limb myoclonus in our patient appeared as a result of RCVS caused by the intravenous administration of methylergometrine.

  9. A School-Based Application of Modified Habit Reversal for Tourette Syndrome via a Translator: A Case Study

    ERIC Educational Resources Information Center

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-01-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline…

  10. A School-Based Application of Modified Habit Reversal for Tourette Syndrome via a Translator: A Case Study

    ERIC Educational Resources Information Center

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-01-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline…

  11. Update on the pharmacotherapy of cerebellar and central vestibular disorders.

    PubMed

    Kalla, Roger; Teufel, Julian; Feil, Katharina; Muth, Caroline; Strupp, Michael

    2016-04-01

    An overview of the current pharmacotherapy of central vestibular syndromes and the most common forms of central nystagmus as well as cerebellar disorders is given. 4-aminopyridine (4-AP) is recommended for the treatment of downbeat nystagmus, a frequent form of acquired persisting fixation nystagmus, and upbeat nystagmus. Animal studies showed that this non-selective blocker of voltage-gated potassium channels increases Purkinje cell excitability and normalizes the irregular firing rate, so that the inhibitory influence of the cerebellar cortex on vestibular and deep cerebellar nuclei is restored. The efficacy of 4-AP in episodic ataxia type 2, which is most often caused by mutations of the PQ-calcium channel, was demonstrated in a randomized controlled trial. It was also shown in an animal model (the tottering mouse) of episodic ataxia type 2. In a case series, chlorzoxazone, a non-selective activator of small-conductance calcium-activated potassium channels, was shown to reduce the DBN. The efficacy of acetyl-DL-leucine as a potential new symptomatic treatment for cerebellar diseases has been demonstrated in three case series. The ongoing randomized controlled trials on episodic ataxia type 2 (sustained-release form of 4-aminopyridine vs. acetazolamide vs. placebo; EAT2TREAT), vestibular migraine with metoprolol (PROVEMIG-trial), cerebellar gait disorders (sustained-release form of 4-aminopyridine vs. placebo; FACEG) and cerebellar ataxia (acetyl-DL-leucine vs. placebo; ALCAT) will provide new insights into the pharmacotherapy of cerebellar and central vestibular disorders.

  12. Cerebellar learning mechanisms

    PubMed Central

    Freeman, John H.

    2014-01-01

    The mechanisms underlying cerebellar learning are reviewed with an emphasis on old arguments and new perspectives on eyeblink conditioning. Eyeblink conditioning has been used for decades a model system for elucidating cerebellar learning mechanisms. The standard model of the mechanisms underlying eyeblink conditioning is that there two synaptic plasticity processes within the cerebellum that are necessary for acquisition of the conditioned response: 1) long-term depression (LTD) at parallel fiber-Purkinje cell synapses and 2) long-term potentiation (LTP) at mossy fiber-interpositus nucleus synapses. Additional Purkinje cell plasticity mechanisms may also contribute to eyeblink conditioning including LTP, excitability, and entrainment of deep nucleus activity. Recent analyses of the sensory input pathways necessary for eyeblink conditioning indicate that the cerebellum regulates its inputs to facilitate learning and maintain plasticity. Cerebellar learning during eyeblink conditioning is therefore a dynamic interactive process which maximizes responding to significant stimuli and suppresses responding to irrelevant or redundant stimuli. PMID:25289586

  13. Past, Present and Future Therapeutics for Cerebellar Ataxias

    PubMed Central

    Marmolino, D; Manto, M

    2010-01-01

    Cerebellar ataxias are a group of disabling neurological disorders. Patients exhibit a cerebellar syndrome and can also present with extra-cerebellar deficits, namely pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. Recently, deficits in cognitive operations have been unraveled. Cerebellar ataxias are heterogeneous both at the phenotypic and genotypic point of view. Therapeutical trials performed during these last 4 decades have failed in most cases, in particular because drugs were not targeting a deleterious pathway, but were given to counteract putative defects in neurotransmission. The identification of the causative mutations of many hereditary ataxias, the development of relevant animal models and the recent identifications of the molecular mechanisms underlying ataxias are impacting on the development of new drugs. We provide an overview of the pharmacological treatments currently used in the clinical practice and we discuss the drugs under development. PMID:20808545

  14. Horizontal-plane arm movements with direction reversals performed by normal individuals and individuals with down syndrome.

    PubMed

    Almeida, G L; Corcos, D M; Hasan, Z

    2000-10-01

    We examined the systematic variation in shoulder and elbow torque, as well as movement kinematics, for horizontal-plane arm movements with direction reversals performed by normal individuals and individuals with Down syndrome. Eight neurologically normal individuals and eight individuals with Down syndrome performed horizontal, planar reversal movements to four different target locations. The four locations of the targets were chosen such that there is a systematic increase in elbow interaction torque for each of the four different target locations. This systematic increase in interaction torque has previously been shown to lead to progressively larger movement reversal errors, and trajectories that do not show a sharp reversal of direction, for movements to and from the target in patients who have proprioceptive abnormalities. We computed joint torques at the elbow and shoulder and found a high correlation between elbow and shoulder torque for the neurologically normal subjects. The ratio of joint torques varied systematically with target location. These findings extend previously reported findings of a linear synergy between shoulder and elbow joints for a variety of point-to-point movements. There was also a correlation between elbow and shoulder torque in individuals with Down syndrome, but the magnitude of the correlation was less. The ratio of joint torques changed systematically with target direction in individuals with Down syndrome but was slightly different from the ratio observed for neurologically normal individuals. The difference in the ratio was caused by the generation of proportionately more elbow torque than shoulder torque. The fingertip path of individuals with Down syndrome showed a sharp reversal in moving toward and then away from the target. In this respect, they were similar to neurologically normal individuals but dissimilar to individuals with proprioceptive deficits. Finally, we observed that individuals with Down syndrome spend

  15. Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration

    PubMed Central

    Miske, Ramona; Gross, Catharina C.; Scharf, Madeleine; Golombeck, Kristin S.; Hartwig, Marvin; Bhatia, Urvashi; Schulte-Mecklenbeck, Andreas; Bönte, Kathrin; Strippel, Christine; Schöls, Ludger; Synofzik, Matthis; Lohmann, Hubertus; Dettmann, Inga Madeleine; Deppe, Michael; Mindorf, Swantje; Warnecke, Tobias; Denno, Yvonne; Teegen, Bianca; Probst, Christian; Brakopp, Stefanie; Wandinger, Klaus-Peter; Wiendl, Heinz; Stöcker, Winfried; Meuth, Sven G.

    2016-01-01

    Objective: To report on a novel neuronal target antigen in 3 patients with autoimmune cerebellar degeneration. Methods: Three patients with subacute to chronic cerebellar ataxia and controls underwent detailed clinical and neuropsychological assessment together with quantitative high-resolution structural MRI. Sera and CSF were subjected to comprehensive autoantibody screening by indirect immunofluorescence assay (IFA) and immunoblot. Immunoprecipitation with lysates of hippocampus and cerebellum combined with mass spectrometric analysis was used to identify the autoantigen, which was verified by recombinant expression in HEK293 cells and use in several immunoassays. Multiparameter flow cytometry was performed on peripheral blood and CSF, and peripheral blood was subjected to T-cell receptor spectratyping. Results: Patients presented with a subacute to chronic cerebellar and brainstem syndrome. MRI was consistent with cortical and cerebellar gray matter atrophy associated with subsequent neuroaxonal degeneration. IFA screening revealed strong immunoglobulin G1 reactivity in sera and CSF with hippocampal and cerebellar molecular and granular layers, but not with a panel of 30 recombinantly expressed established neural autoantigens. Neurochondrin was subsequently identified as the target antigen, verified by IFA and immunoblot with HEK293 cells expressing human neurochondrin as well as the ability of recombinant neurochondrin to neutralize the autoantibodies' tissue reaction. Immune phenotyping revealed intrathecal accumulation and activation of B and T cells during the acute but not chronic phase of the disease. T-cell receptor spectratyping suggested an antigen-specific T-cell response accompanying the formation of antineurochondrin autoantibodies. No such neurochondrin reactivity was found in control cohorts of various neural autoantibody-associated neurologic syndromes, relapsing-remitting multiple sclerosis, cerebellar type of multiple system atrophy, hereditary

  16. The Comorbidity of Reduplicative Paramnesia, Intermetamorphosis, Reverse-Intermetamorphosis, Misidentification of Reflection, and Capgras Syndrome in an Adolescent Patient

    PubMed Central

    Arısoy, Ozden; Tufan, A. Evren; Taskiran, Sarper; Topal, Zehra; Demir, Nuran; Cansız, M. Akif

    2014-01-01

    Delusional misidentification syndromes may be superimposed on neurological or psychiatric disorders and include delusional beliefs that the people, objects, or places around the patient change or are made to change with one another. In this paper, an adolescent patient displaying Capgras syndrome, metamorphosis, reverse-intermetamorphosis, misidentification of reflection, and reduplicative paramnesia was presented. The findings that our patient struggled with visuospatial tests applied in the acute phase as well as the observation that she refused to meet her family face-to-face while accepting to speak on the phone may support the role of right hemisphere and visuospatial functions in the development of those syndromes. Further studies or case series evaluated more extensively are needed to reveal the relationship between right hemisphere functions and delusional misidentification syndromes. PMID:25328744

  17. Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies.

    PubMed

    Aguiar, Tiago Silva; Fragoso, Andrea; Albuquerque, Carolina Rouanet de; Teixeira, Patrícia de Fátima; Souza, Marcus Vinícius Leitão de; Zajdenverg, Lenita; Alves-Leon, Soniza Vieira; Rodacki, Melanie; Lima, Marco Antônio Sales Dantas de

    2017-03-01

    This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.

  18. Vessel wall MRI to differentiate between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis: preliminary results.

    PubMed

    Mandell, Daniel M; Matouk, Charles C; Farb, Richard I; Krings, Timo; Agid, Ronit; terBrugge, Karel; Willinsky, Robert A; Swartz, Richard H; Silver, Frank L; Mikulis, David J

    2012-03-01

    Prospective differentiation between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis can be challenging. We hypothesized that high-resolution vessel wall MRI would demonstrate arterial wall enhancement in central nervous system vasculitis but not in reversible cerebral vasoconstriction syndrome. We identified all patients with multifocal segmental narrowing of large intracranial arteries who had high-resolution vessel wall MRI and follow-up angiography at our institute over a 4-year period and performed a detailed chart review. Three patients lacked arterial wall enhancement, and these all had reversal of arterial narrowing within 3 months. Four patients demonstrated arterial wall enhancement, and these had persistent or progressive arterial narrowing at a median follow-up of 17 months (range, 6-36 months) with final diagnoses of central nervous system vasculitis (3) and cocaine vasculopathy (1). Preliminary results suggest that high-resolution contrast-enhanced vessel wall MRI may enable differentiation between reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

  19. Posterior reversible encephalopathy syndrome and systemic vasculitis: report of six cases.

    PubMed

    Lioger, Bertrand; Diot, Elisabeth; Ebbo, Michael; Schleinitz, Nicolas; Aaron, Laurent; Michot, Jean-Marie; Lambotte, Olivier; Dhote, Robin; De Boysson, Hubert; Ponce, Elodie; Maillot, François

    2016-01-01

    Our objective was to describe the characteristics of posterior reversible encephalopathy syndrome (PRES) associated with systemic vasculitis. A standardised questionnaire was used for a nationwide retrospective multicentre study in 2013 to collect clinical, radiological and outcome data about PRES associated with systemic vasculitis. We included six patients (all women; mean age 22.6±19.8 years (20-62)): two with polyarteritis nodosa and one case of each granulomatosis with polyangiitis, cryoglobulinaemic vasculitis, hypocomplementemic urticarial vasculitis, and Takayasu arteritis. PRES was the first manifestation of systemic vasculitis in three patients. Arterial hypertension was suspected to be the cause of PRES in five patients. Several other plausible causes including drugs, renal failure, and pneumonia were found in three patients. Clinical findings included headache, seizure, blurred or loss of vision, confusion, and altered cognition. Radiological study showed oedema in the occipital region in all patients, with a reversible state in MRIs performed one week to one month after the onset of PRES. Therapies used included antihypertensive therapy (n=5), immunosuppressive therapy (corticosteroids (n=5), cyclophosphamide (n=4), azathioprine (n=1), methotrexate (n=1), plasma exchange (n=1)), antibiotics (n=1), anticonvulsant therapy (n=2)), and analgesics. No relapse of PRES was reported during the follow-up period (mean: 47.5 ±29.9 months, 13-98); one patient continued to complain of vision loss. Our study indicates that PRES is a rare condition associated with systemic vasculitis; which may be present at the onset vasculitis symptoms. Antihypertensive drugs should be prescribed if blood pressure is elevated. The impact of immunosuppressive therapy remains unclear.

  20. Clinical Features and Outcomes of Patients with Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Kalaiselvan, M. S.; Renuka, M. K.; Arunkumar, A. S.

    2017-01-01

    Aims: The aim of this study was to study the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES) admitted to the Intensive Care Unit (ICU). Subjects and Methods: All adult patients admitted to our ICU with acute onset neurologic symptoms with focal vasogenic edema on magnetic resonance imaging (MRI) were included in the study. Data were collected on demography, coexisting illness, admission severity of illness, neurological symptoms, blood pressure, treatment initiated, and MRI findings. Outcome data collected included mortality, ICU average length of stay (ALOS), number of ventilator days, and neurological disability at discharge assessed by modified Rankin scale (MRS). Results: Fourteen patients were admitted with PRES. Thirteen patients were female, and their mean age was 31.5 ± 8.3 years. Etiology of PRES included eclampsia (64.2%), lupus nephritis (21.4%), CKD (7.1%), and hypertension (n = 1 [7.1%]). The most common presenting symptom was seizure (92.8%), followed by visual disturbance (42.8%), headache (42.8%), encephalopathy (14.2%), and status epilepticus (14.2%). The Glasgow coma scale on admission was 12.3 ± 2.9. High blood pressure was seen in 12 patients 85.7%; their mean systolic and diastolic pressures were 173 ± 10.2 and 110 ± 8.6 mmHg, respectively. MRI showed that parieto-occipital region was most commonly involved (92.8%), followed by frontal lobe (42.8%). ICU ALOS was 4.35 ± 2.4 days and mean ventilator days was 1.7 ± 2.0 days. One patient (1/14 [7.4%]) died of multiorgan failure and 13 patients were discharged with no residual neurological deficit (MRS, 0). Conclusions: PRES is a potentially reversible disorder with prompt recognition and control of blood pressure. PMID:28808366

  1. Clinical Features and Outcomes of Patients with Posterior Reversible Encephalopathy Syndrome.

    PubMed

    Kalaiselvan, M S; Renuka, M K; Arunkumar, A S

    2017-07-01

    The aim of this study was to study the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES) admitted to the Intensive Care Unit (ICU). All adult patients admitted to our ICU with acute onset neurologic symptoms with focal vasogenic edema on magnetic resonance imaging (MRI) were included in the study. Data were collected on demography, coexisting illness, admission severity of illness, neurological symptoms, blood pressure, treatment initiated, and MRI findings. Outcome data collected included mortality, ICU average length of stay (ALOS), number of ventilator days, and neurological disability at discharge assessed by modified Rankin scale (MRS). Fourteen patients were admitted with PRES. Thirteen patients were female, and their mean age was 31.5 ± 8.3 years. Etiology of PRES included eclampsia (64.2%), lupus nephritis (21.4%), CKD (7.1%), and hypertension (n = 1 [7.1%]). The most common presenting symptom was seizure (92.8%), followed by visual disturbance (42.8%), headache (42.8%), encephalopathy (14.2%), and status epilepticus (14.2%). The Glasgow coma scale on admission was 12.3 ± 2.9. High blood pressure was seen in 12 patients 85.7%; their mean systolic and diastolic pressures were 173 ± 10.2 and 110 ± 8.6 mmHg, respectively. MRI showed that parieto-occipital region was most commonly involved (92.8%), followed by frontal lobe (42.8%). ICU ALOS was 4.35 ± 2.4 days and mean ventilator days was 1.7 ± 2.0 days. One patient (1/14 [7.4%]) died of multiorgan failure and 13 patients were discharged with no residual neurological deficit (MRS, 0). PRES is a potentially reversible disorder with prompt recognition and control of blood pressure.

  2. Swallowing therapy--a prospective study on patients with neurogenic dysphagia due to unilateral paresis of the vagal nerve, Avellis' syndrome, Wallenberg's syndrome, posterior fossa tumours and cerebellar hemorrhage.

    PubMed

    Prosiegel, M; Höling, R; Heintze, M; Wagner-Sonntag, E; Wiseman, K

    2005-01-01

    No studies exist dealing with the outcome of dysphagic patients with posterior fossa (IV. ventricle) tumours (PFT) or cerebellar hemorrhage (CH), and the outcome of patients with Wallenberg's syndrome (WS) after functional swallowing therapy (FST) has so far not been studied in detail. Patients and methods. 208 patients with neurogenic dysphagia (ND) who were consecutively admitted for functional swallowing therapy (FST) over a 3 year period to our hospital were examined clinically, by use of a videofluoroscopic swallowing study (VFSS) and/or fibreoptic evaluation of swallowing (FEES). The most frequent etiology was stroke (48%), followed by CNS tumours (13%). In the present study we defined three groups. Group 1 comprised 8 patients with PFT or CH. Group 2 consisted of 27 patients with WS, which was the leading cause among patients with non-hemispheric stroke. Since in WS a vagal nerve paresis due to affection of the Nucleus ambiguus occurs, 8 patients with Avellis' syndrome or unilateral paresis of the vagal nerve served as controls and were defined as group 3. Findings. In the three groups, functional feeding status showed significant improvement after FST comprising methods of restitution, compensation and adaptation, each of which were applied in more than 80% of patients. Outcome was, however, significantly worse in group 1 as compared to group 2 and in group 2 as compared to group 3. Dysfunction of the upper esophageal sphincter and reflex triggering were significantly more severely disturbed in groups 1 and 2 as compared to group 3. Group 1 showed significantly more severe disturbances of the oral phase as compared to groups 2 and 3. After FST, more than 50% (5/8) of group 1 and 30% (8/27) of WS patients (group 2) were dependent on tube feeding, whereas all patients of group 3 were full-oral feeders. Interpretation. This is the first study dealing with the outcome of dysphagic patients with PFT or CH. Based on our results it can be assumed that in these

  3. Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke.

    PubMed

    Stoodley, Catherine J; MacMore, Jason P; Makris, Nikos; Sherman, Janet C; Schmahmann, Jeremy D

    2016-01-01

    Cerebellar lesions can cause motor deficits and/or the cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome). We used voxel-based lesion-symptom mapping to test the hypothesis that the cerebellar motor syndrome results from anterior lobe damage whereas lesions in the posterolateral cerebellum produce the CCAS. Eighteen patients with isolated cerebellar stroke (13 males, 5 females; 20-66 years old) were evaluated using measures of ataxia and neurocognitive ability. Patients showed a wide range of motor and cognitive performance, from normal to severely impaired; individual deficits varied according to lesion location within the cerebellum. Patients with damage to cerebellar lobules III-VI had worse ataxia scores: as predicted, the cerebellar motor syndrome resulted from lesions involving the anterior cerebellum. Poorer performance on fine motor tasks was associated primarily with strokes affecting the anterior lobe extending into lobule VI, with right-handed finger tapping and peg-placement associated with damage to the right cerebellum, and left-handed finger tapping associated with left cerebellar damage. Patients with the CCAS in the absence of cerebellar motor syndrome had damage to posterior lobe regions, with lesions leading to significantly poorer scores on language (e.g. right Crus I and II extending through IX), spatial (bilateral Crus I, Crus II, and right lobule VIII), and executive function measures (lobules VII-VIII). These data reveal clinically significant functional regions underpinning movement and cognition in the cerebellum, with a broad anterior-posterior distinction. Motor and cognitive outcomes following cerebellar damage appear to reflect the disruption of different cerebro-cerebellar motor and cognitive loops.

  4. The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome

    PubMed Central

    Topcu, Yasemin; Bayram, Erhan; Karaoglu, Pakize; Yis, Uluc; Kurul, Semra Hiz

    2013-01-01

    Shapiro syndrome is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and agenesis of the corpus callosum. On the other hand, reverse Shapiro's sydrome is characterized periodic hyperthermia and agenesis of the corpus callosum. Here, we describe a 3.5-year-old girl with complete agenesis of corpus callosum presenting with recurrent fever and vomiting. She also had hypothermia attacks with accompanying diaphoresis. To the best of our knowledge, there is no described case with episodes of hyperthermia, hypothermia, and vomiting associated with agenesis of the corpus callosum. Recurrent vomiting may be a newly defined symptom associated with these syndromes. PMID:24339619

  5. Reversible cerebral vasoconstriction syndrome associated with fingolimod treatment in relapsing-remitting multiple sclerosis three months after childbirth.

    PubMed

    Kraemer, Markus; Weber, Ralph; Herold, Michèle; Berlit, Peter

    2015-10-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by acute thunderclap headache, evidence of vasoconstriction in conventional angiography or magnetic resonance angiography and reversibility of these phenomena within 12 weeks. Some triggering factors, for example drugs such as selective serotonin reuptake inhibitors, sumatriptan, tacrolimus, cyclophosphamide and cocaine, or states such as pregnancy, puerperium or migraine have been described. We describe the case of a 29-year-old woman with RCVS associated with fingolimod three months after childbirth. This case represents the first report of RCVS in fingolimod treatment. © The Author(s), 2015.

  6. Regular exercise training reverses ectonucleotidase alterations and reduces hyperaggregation of platelets in metabolic syndrome patients.

    PubMed

    Martins, Caroline Curry; Bagatini, Margarete Dulce; Cardoso, Andréia Machado; Zanini, Daniela; Abdalla, Fátima Husein; Baldissarelli, Jucimara; Dalenogare, Diéssica Padilha; Farinha, Juliano Boufleur; Schetinger, Maria Rosa Chitolina; Morsch, Vera Maria

    2016-02-15

    Alterations in the activity of ectonucleotidase enzymes have been implicated in cardiovascular diseases, whereas regular exercise training has been shown to prevent these alterations. However, nothing is known about it relating to metabolic syndrome (MetS). We investigated the effect of exercise training on platelet ectonucleotidase enzymes and on the aggregation profile of MetS patients. We studied 38 MetS patients who performed regular concurrent exercise training for 30 weeks. Anthropometric measurements, biochemical profiles, hydrolysis of adenine nucleotides in platelets and platelet aggregation were collected from patients before and after the exercise intervention as well as from individuals of the control group. An increase in the hydrolysis of adenine nucleotides (ATP, ADP and AMP) and a decrease in adenosine deamination in the platelets of MetS patients before the exercise intervention were observed (P<0.001). However, these alterations were reversed by exercise training (P<0.001). Additionally, an increase in platelet aggregation was observed in the MetS patients (P<0.001) and the exercise training prevented platelet hyperaggregation in addition to decrease the classic cardiovascular risks. An alteration of ectonucleotidase enzymes occurs during MetS, whereas regular exercise training had a protective effect on these enzymes and on platelet aggregation. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Reversible and cachexia-associated feline skin fragility syndrome in three cats.

    PubMed

    Furiani, Nicla; Porcellato, Ilaria; Brachelente, Chiara

    2017-10-01

    Feline skin fragility syndrome (FSFS) is an acquired disorder characterized by altered collagen production resulting in an extremely thin and fragile skin. FSFS is associated with diseases characterized by excessive steroidal hormones that can inhibit collagen synthesis. It is also described concomitantly with severe inflammatory, infectious or neoplastic conditions where the pathogenesis remains largely unknown. To describe three cases of FSFS in cats that become cachectic secondary to different causes without glucocorticoid involvement. To describe the histopathological features of connective tissue for both fragile skin and the skin after healing. All cats developed cachexia in less than two months (body condition score ranging from 1-1.5). Concomitant diseases were diagnosed in Case 1 (aspiration pneumonia due to mega-oesophagus) and Case 2 (feline immunodeficiency virus (FIV)). In Case 3, malnutrition was suspected as a primary cause. The main histological feature of fragile skin was an atrophic dermis with pale eosinophilic, thin and irregular collagen fibres with numerous red cores observed with Masson's stain. Elastic fibres were normal. Postrecovery histopathological findings at 11 (Case 1) and six months (Case 3) after diagnosis, indicated normalization of the collagen and of the whole skin as compared with controls. To the best of the authors' knowledge, this is the first report describing a reversible, nonsteroid-induced FSFS, associated with rapidly developing cachexia in cats. © 2017 ESVD and ACVD.

  8. Posterior reversible encephalopathy syndrome in setting of postobstructive diuresis and persistent hypocalcemia.

    PubMed

    Gera, Dinesh N; Patil, Sachin B; Parikh, Mitul; Modi, Pranjal R; Kute, Vivek B; Trivedi, Hargovind L

    2012-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiographic entity of heterogenous etiologies, which are grouped together because of similar findings on neuroimaging studies, associated with similar symptom complex of headache, vision loss, altered mentation, and seizures. In this report, we describe a case of PRES in setting of postobstructive diuresis in a 5-year-old male child, whose solitary functioning kidney was obstructed by a 1.6-cm radio-opaque stone, who after percutaneous nephrostomy (PCN) diversion developed persistent hypocalcemia which persisted despite maximum replacement by iv calcium gluconate drip, and the child developed repeated generalized tonic clonic convulsions and became unconscious for 4 days. Computerized tomography (CT) scan of the brain showed typical hypodensities in bilateral occipitoparietal regions suggesting PRES. Ultimately, over a period of 4 days, his hypocalcemia could be corrected and the child was neurologically normal on the 5th day. CT scan of the brain after a month was free of any hypodensities.

  9. Rapid reversion of Loeffler's endocarditis by imatinib in early stage clonal hypereosinophilic syndrome.

    PubMed

    Rotoli, Bruno; Catalano, Lucio; Galderisi, Maurizio; Luciano, Luigia; Pollio, Giuditta; Guerriero, Anna; D'Errico, Arcangelo; Mecucci, Cristina; La Starza, Roberta; Frigeri, Ferdinando; Di Francia, Raffaele; Pinto, Antonio

    2004-12-01

    Endomyocardial fibrosis (Loeffler's endocarditis) is the main cause of poor outcome in Hyper Eosinophilic Syndrome (HES) and Eosinophilic Leukemia (EL). Reversion of the cardiac damage has been seldom reported, and thrombi can superimpose on infiltrated walls, originating oembolic complications. The tyrosine kynase inhibitor imatinib has been recently employed in patients affected by HES or EL, with impressive results. We have treated with imatinib a young patient affected by Loeffler's endocarditis during EL. Loeffler's endocarditis was studied by transthoracic Doppler echocardiography with and without the contrast agent SonoVue. Cytogenetics, FISH and molecular analysis showed the presence of the FIP1L1/PDGFRA fusion gene, recently detected in a majority of HES patients. Standard echocardiography revealed a large infiltration of the apical region, with apparently pedunculate corpora floating in the LV chamber; after SonoVue injection, a thick endo-myocardial infiltration involving papillary muscles and tendinous chords appeared, which simulated mobile thrombi at standard echography. Treatment with low dose imatinib caused rapid regression of both eosinophilic proliferation and endomyocardiopathy. The fusion gene FIP1L1-PDGFRA was found significantly decreased after a few months of treatment. Using a contrast echocardiographic approach, we demonstrated the non-thrombotic origin of the "in plus" image in our patient and its rapid resolution following imatinib treatment. Imatinib is an excellent candidate for first line treatment of Loeffler's endocarditis, especially when the FIP1L1/PDGFA fusion gene is detected.

  10. Possible overlap between reversible cerebral vasoconstriction syndrome and symptomatic vasospasm after aneurysmal subarachnoid hemorrhage.

    PubMed

    Forget, Patrice; Goffette, Pierre; van de Wyngaert, Françoise; Raftopoulos, Christian; Hantson, Philippe

    2009-08-01

    A 34-year-old woman with a previous history of severe headache ("thunderclap") was admitted with a diagnosis of aneurysmal subarachnoid hemorrhage (SAH). The patient developed symptomatic vasospasm on day 5 that resolved rapidly after having increased arterial blood pressure. She experienced also short-lasting excruciating headache. On day 12, while velocities had normalised, as revealed by transcranial Doppler (TCD), for more than 48 h, she developed aphasia and right hemiplegia associated with diffuse segmental vasospasm on the left middle cerebral artery. Intra-arterial infusion of vasodilatory agents was required. Recurrence of symptomatic vasospasm was noted on day 25, with a great number of territories involved as shown in the cerebral angiogram. A second intra-arterial treatment was needed. The patient complained of multiple episodes of extremely severe headache ("thunderclap"), with also transient dysarthria and hemiparesia on day 30. She was discharged on day 38 after full recovery. The clinical and TCD/radiological findings were consistent with a reversible cerebral vasoconstriction syndrome overlapping SAH related symptomatic vasospasm.

  11. Reverse transcription recombinase polymerase amplification assay for the detection of middle East respiratory syndrome coronavirus.

    PubMed

    Abd El Wahed, Ahmed; Patel, Pranav; Heidenreich, Doris; Hufert, Frank T; Weidmann, Manfred

    2013-12-12

    The emergence of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in the eastern Mediterranean and imported cases to Europe has alerted public health authorities. Currently, detection of MERS-CoV in patient samples is done by real-time RT-PCR. Samples collected from suspected cases are sent to highly-equipped centralized laboratories for screening. A rapid point-of-care test is needed to allow more widespread mobile detection of the virus directly from patient material. In this study, we describe the development of a reverse transcription isothermal Recombinase Polymerase Amplification (RT-RPA) assay for the identification of MERS-CoV. A partial nucleocapsid gene RNA molecular standard of MERS-coronavirus was used to determine the assay sensitivity. The isothermal (42°C) MERS-CoV RT-RPA was as sensitive as real-time RT-PCR (10 RNA molecules), rapid (3-7 minutes) and mobile (using tubescanner weighing 1kg). The MERS-CoV RT-RPA showed cross-detection neither of any of the RNAs of several coronaviruses and respiratory viruses affecting humans nor of the human genome. The developed isothermal real-time RT-RPA is ideal for rapid mobile molecular MERS-CoV monitoring in acute patients and may also facilitate the search for the animal reservoir of MERS-CoV.

  12. Paraparetic Guillain-Barré syndrome: Nondemyelinating reversible conduction failure restricted to the lower limbs.

    PubMed

    Kimachi, Takeshi; Yuki, Nobuhiro; Kokubun, Norito; Yamaguchi, Shuhei; Wakerley, Benjamin R

    2017-02-01

    Paraparetic Guillain-Barré syndrome (GBS) is a rare subtype of GBS characterized by leg weakness and areflexia in the absence of neurological involvement of the arms, cranial nerves, or respiratory muscles. Onset is characterized by lower back, buttock, or leg pain, followed by development of symmetric flaccid limb weakness in the absence of sensory disturbance. We describe an elderly woman who developed postinfectious symmetric flaccid leg weakness in the absence of sensory disturbance. Serial nerve conduction studies were carried out over 5 months. Antecedent infection, a monophasic disease course, and the presence of cerebrospinal fluid albuminocytological dissociation suggested a diagnosis of paraparetic GBS. Serial nerve conduction studies demonstrated nondemyelinating reversible conduction failure, which was restricted to the legs. Axonal neuropathy was supported by the presence of anti-GM1 IgG antibodies. These findings suggest that patients with paraparetic GBS have axonal neuropathy, which is restricted to the lower limbs. Muscle Nerve 55: 281-285, 2017. © 2016 Wiley Periodicals, Inc.

  13. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.

    PubMed

    Scaffidi, Paola; Misteli, Tom

    2005-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease caused by a spontaneous point mutation in lamin A (encoded by LMNA), one of the major architectural elements of the mammalian cell nucleus. The HGPS mutation activates an aberrant cryptic splice site in LMNA pre-mRNA, leading to synthesis of a truncated lamin A protein and concomitant reduction in wild-type lamin A. Fibroblasts from individuals with HGPS have severe morphological abnormalities in nuclear envelope structure. Here we show that the cellular disease phenotype is reversible in cells from individuals with HGPS. Introduction of wild-type lamin A protein does not rescue the cellular disease symptoms. The mutant LMNA mRNA and lamin A protein can be efficiently eliminated by correction of the aberrant splicing event using a modified oligonucleotide targeted to the activated cryptic splice site. Upon splicing correction, HGPS fibroblasts assume normal nuclear morphology, the aberrant nuclear distribution and cellular levels of lamina-associated proteins are rescued, defects in heterochromatin-specific histone modifications are corrected and proper expression of several misregulated genes is reestablished. Our results establish proof of principle for the correction of the premature aging phenotype in individuals with HGPS.

  14. Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease.

    PubMed

    Yoshida, Tadashi; Hiratsuka, Ken; Yamashita, Maho; Matsui, Ayumi; Hayashi, Matsuhiko

    2015-11-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, seizures, altered mental status, and visual disturbance. It is diagnosed by the presence of both clinical symptoms and radiographic findings on the parietal-occipital lobes. We here report a 61-year-old woman with non-compensative liver cirrhosis and chronic kidney disease, presenting with uremia-induced PRES. She expressed loss of consciousness and subsequent visual disturbance, during the progression of uremia. She was treated with hemodiafiltration therapy, and the symptoms of PRES fully improved. The case is of particular interest, in that the appearance of abnormal findings on magnetic resonance imaging was delayed more than 2 weeks, as compared to that of clinical symptoms. The etiology of chronic kidney disease in the patient was considered to be autosomal recessive polycystic kidney disease, and we performed DNA sequencing analysis on the polycystic kidney and hepatic disease 1 gene. Two homozygous missense mutations were found in the patient and may combinatorially affect the disease. This case raises a possibility that the incidence of PRES is much higher if the radiological examination is performed more frequently.

  15. Prevalence and risk factors associated with reversed Robin Hood syndrome in acute ischemic stroke.

    PubMed

    Alexandrov, Andrei V; Nguyen, Huy Thang; Rubiera, Marta; Alexandrov, Anne W; Zhao, Limin; Heliopoulos, Ioannis; Robinson, Alice; Dewolfe, Jennifer; Tsivgoulis, Georgios

    2009-08-01

    Early deterioration can occur after acute stroke for a variety of reasons. We describe a hemodynamic steal and associated neurological deterioration, the reversed Robin Hood syndrome (RRHS). We aimed to investigate the frequency and factors associated with RRHS. Consecutive patients with acute cerebral ischemia underwent serial National Institutes of Health Stroke Scale and bilateral transcranial Doppler monitoring with breathholding. Steal magnitude (%) was calculated from transient mean flow velocity reduction in the affected arteries at the time of velocity increase in normal vessels. Excessive sleepiness and likelihood of sleep apnea were evaluated by the Epworth Sleepiness Scale and Berlin Questionnaire. Among 153 patients (age, 61+/-14 years; 48% women; 21% transient ischemic attack) admitted within 48 hours from symptom onset, 21 (14%) had steal phenomenon (median steal magnitude, 20%; interquartile range, 11%; range, 6% to 45%), and 11 (7%) had RRHS. RRHS was most frequent in patients with proximal arterial occlusions (17% versus 1%; P<0.001). The following factors were independently (P<0.05) associated with RRHS (multivariate logistic regression model): male gender, younger age, persisting arterial occlusions, and excessive sleepiness (P<0.001). A 1-point increase in the Epworth Sleepiness Scale was independently related to an increased likelihood of RRHS of 36% (95% CI, 7% to 73%). RRHS and hemodynamic steal can be found in 7% and 14%, respectively, of consecutive patients with stroke without other known causes for deterioration. Patients with persisting arterial occlusions and excessive sleepiness can be particularly vulnerable to the steal.

  16. Reversed Robin Hood Syndrome in the Light of Nonlinear Model of Cerebral Circulation

    NASA Astrophysics Data System (ADS)

    Piechna, A.; Cieslicki, K.

    2017-05-01

    The brain is supplied by the internal carotid and vertebro-basilar systems of vessels interconnected by arterial anastomoses and forming at the base of the brain a structure called the Circle of Willis (CoW). An active intrinsic ability of cerebral vascular bed maintains constant Cerebral Blood Flow (CBF) in a certain range of systemic pressure changes. This ability is called autoregulation and together with the redundant structure of the CoW guarantee maintaining CBF even in partial occlusion of supplying arteries. However, there are some situations when the combination of those two mechanisms causes an opposite effect called the Reversed Robin Hood Syndrome (RRHS). In this work we proposed a model of the CoW with autoregulation mechanism and investigated a RRHS which may occur in the case of Internal Carotid Artery (ICA) stenosis combined with hypercapnia. We showed and analyzed the mechanism of stealing the blood by the contralateral side of the brain. Our results were qualitatively compared with the clinical reports available in the literature.

  17. Posterior Reversible Encephalopathy Syndrome as Presenting Form of Very Early Systemic Sclerosis

    PubMed Central

    Pedraza, María Isabel; Barbado, Julia; Ruiz, Marina; Guerrero, Ángel Luis

    2015-01-01

    Introduction. Posterior Reversible Encephalopathy Syndrome (PRES) is an increasingly recognized clinical and radiological entity with a wide spectrum of symptoms. Its mechanism depends on failure of the blood-brain barrier due to high systemic blood pressure (BP) and loss of integrity of vascular endothelium related with different triggers. Methods. We aim to report a case of PRES induced by arterial hypertension and very early systemic sclerosis (SSc) not previously known. Results. A 64-year-old female was admitted due to 1-week pulsating headache more prominent on frontal scalp, accompanied by phonophobia, photophobia, and facial flushing. Neurological exam revealed brisk deep tendon reflex. Brain magnetic resonance imaging (MRI) showed subcortical lesions mainly located in posterior regions. BP was monitored and episodic arterial hypertension was detected. In laboratory tests positive anti-topoisomerase I antibodies were detected. BP was controlled with angiotensin-converting-enzyme inhibitors and headache improved. In a new MRI a month later improvement of white matter lesions was observed. Capillaroscopy showed “active pattern,” considered typical of SSc. Conclusion. In SSc anti-endothelial cell antibodies impair vascular endothelium and liberation of vasoconstrictors leads to BP increasing and disruption of blood-brain barrier autoregulation mechanisms. PRES can be the first manifestation of very early SSc and this entity should be considered even in absence of skin lesions or Raynaud phenomenon. PMID:25802777

  18. Reversible cerebral vasoconstriction syndrome: Is it more than just cerebral vasoconstriction?

    PubMed

    John, Seby; Hajj-Ali, Rula A; Min, David; Calabrese, Leonard H; Cerejo, Russell; Uchino, Ken

    2015-06-01

    Systemic vascular alterations have not been described in reversible cerebral vasoconstriction syndrome (RCVS). We present a case series of RCVS patients having cardiac dysfunction during ictus, with a subset showing complete resolution of cardiomyopathy. Retrospective case-series: Cardiac left ventricular ejection fraction (LVEF) and wall motion abnormalities (WMA) visualized on transthoracic echocardiography (TTE), performed during RCVS ictus and follow-up was analyzed. Of 68 patients, 18 (26%) had a TTE performed around ictus. Three of 18 (17%) patients demonstrated WMA on initial TTE. All three patients were female without previous coronary artery disease or heart failure, and were asymptomatic from the cardiac dysfunction. WMA resolved completely on follow-up in Patients 1 and 2. Global LV dysfunction persisted for at least 90 days in Patient 3. Although the exact pathophysiology of the cardiomyopathy is uncertain, it may be related to localized coronary vasoconstriction causing myocardial ischemia/infarction. Vasoconstriction may not be limited to the cerebral vasculature and may involve extracerebral organs. Cardiac ventricular abnormalities may be a part of the RCVS spectrum. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  19. Posterior Reversible Encephelopathy Syndrome Presenting as Quadriparesis in Pregnancy Induced Hypertension

    PubMed Central

    Pranita; Kumar, Ajit; Shahi, Seema

    2015-01-01

    Pregnancy Induced Hypertension (PIH) is a condition characterised by raised blood pressure in pregnancy. It affects approximately one out of every 14 pregnant women. Although PIH more commonly occurs during first pregnancy, it can also occur in subsequent pregnancies. It can present with variable complications related to vasospasm. But focal neurologic deficits are extremely rare in patients with PIH. We report a case of quadriparesis due to posterior reversible encephalopathy syndrome (PRES). A 36 year old full term pregnant female was admitted for emergency lower segment caesarean section (LSCS) as a result of uncontrolled PIH with early clinical signs of left ventricular failure. She was recovering well from pulmonary oedema after being provided with mechanical ventilation. However on 4th day she developed sudden onset quadriparesis without any alteration in sensorium, bladder & bowel disturbance or any sensory deficit. Diffusion weighted neuroimaging (DWI) was carried out which revealed finding suggestive of PRES. The patient was treated with antihypertensive which followed improvement in neurological deficit. Although rare, PRES should be considered as a potential cause of acute onset focal neurological deficit in pregnant females with PIH. With this case report we have tried to create awareness and vigilance about rare but potentially serious yet salvageable condition like PRES. PMID:26023585

  20. A school-based application of modified habit reversal for Tourette syndrome via a translator: a case study.

    PubMed

    Gilman, Rich; Connor, Nancy; Haney, Michelle

    2005-11-01

    A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline to intervention across classroom settings. Results of two follow-up phases revealed that motor tic levels remained below those observed in the baseline phase. Implications and limitations of these findings are noted.

  1. [Patient with posterior reversible encephalopathy syndrome with prolonged disturbance of consciousness and convulsion after cerebral aneurysm surgery].

    PubMed

    Ueda, Kayo; Hoshi, Takuo; Yorozu, Shinko; Okazaki, Junko; Motomura, Yuji; Masumoto, Tomohiko; Tsubokawa, Tsunehisa; Tanaka, Makoto

    2011-02-01

    A 73-year-old patient developed convulsion and prolonged disturbance of consciousness after clipping surgery for unruptured cerebral aneurysm. The patient's consciousness improved four days after surgery, and radiological findings suggested posterior reversible encephalopathy syndrome (PRES). The cause of PRES is thought to be dysfunction of blood brain barrier by a sudden increase in blood pressure. In case of unexplained convulsion and decreased level of consciousness, PRES should be considered with radiographic examinations including CT and MRI.

  2. A rare case of chemotherapy induced reversible cerebral vasoconstriction syndrome in a patient of acute lymphocytic leukemia.

    PubMed

    Sankhe, Shilpa; Kamath, Namita; Sahu, Arpita

    2015-01-01

    Neurotoxic reactions of chemotherapy occur frequently and are often dose limiting side effects of chemotherapy. It is important to differentiate these various nonneoplastic effects from metastases, or sometimes even from each other, since the therapeutic approach differs accordingly. To arrive at a definitive and comprehensive diagnosis, the radiologist should integrate imaging findings, clinical signs, and laboratory results together. Here we present a unique case of chemotherapy induced reversible cerebral vasoconstriction syndrome in a 13-year-old patient of acute lymphoblastic leukemia.

  3. Voltage-gated calcium channel autoimmune cerebellar degeneration

    PubMed Central

    McKasson, Marilyn; Clawson, Susan A.; Hill, Kenneth E.; Wood, Blair; Carlson, Noel; Bromberg, Mark; Greenlee, John E.

    2016-01-01

    Objectives: To describe response to treatment in a patient with autoantibodies against voltage-gated calcium channels (VGCCs) who presented with autoimmune cerebellar degeneration and subsequently developed Lambert-Eaton myasthenic syndrome (LEMS), and to study the effect of the patient's autoantibodies on Purkinje cells in rat cerebellar slice cultures. Methods: Case report and study of rat cerebellar slice cultures incubated with patient VGCC autoantibodies. Results: A 53-year-old man developed progressive incoordination with ataxic speech. Laboratory evaluation revealed VGCC autoantibodies without other antineuronal autoantibodies. Whole-body PET scans 6 and 12 months after presentation detected no malignancy. The patient improved significantly with IV immunoglobulin G (IgG), prednisone, and mycophenolate mofetil, but worsened after IV IgG was halted secondary to aseptic meningitis. He subsequently developed weakness with electrodiagnostic evidence of LEMS. The patient's IgG bound to Purkinje cells in rat cerebellar slice cultures, followed by neuronal death. Reactivity of the patient's autoantibodies with VGCCs was confirmed by blocking studies with defined VGCC antibodies. Conclusions: Autoimmune cerebellar degeneration associated with VGCC autoantibodies may precede onset of LEMS and may improve with immunosuppressive treatment. Binding of anti-VGCC antibodies to Purkinje cells in cerebellar slice cultures may be followed by cell death. Patients with anti-VGCC autoantibodies may be at risk of irreversible neurologic injury over time, and treatment should be initiated early. PMID:27088118

  4. Cerebellar and afferent ataxias.

    PubMed

    Pandolfo, Massimo; Manto, Mario

    2013-10-01

    Ataxia is the predominant manifestation of many acquired and inherited neurologic disorders affecting the cerebellum, its connections, and the afferent proprioceptive pathways. This article reviews the phenomenology and etiologies of cerebellar and afferent ataxias and provides indications for a rational approach to diagnosis and management. The pathophysiology of ataxia is being progressively understood and linked to the functional organization of the cerebellum. The impact of cerebellar diseases on different neurologic functions has been better defined and shown not to be limited to loss of motor coordination. The role of autoimmunity is increasingly recognized as a cause of sporadic cases of ataxia. Large collaborative studies of long duration are providing crucial information on the clinical spectrum and natural history of both sporadic ataxias (such as the cerebellar form of multiple system atrophy) and inherited ataxias. New dominant and recessive ataxia genes have been identified. On the therapeutic front, progress mostly concerns the development of treatments for Friedreich ataxia. Ataxia is the clinical manifestation of a wide range of disorders. In addition to accurate clinical assessment, MRI plays a major role in the diagnostic workup, allowing us to distinguish degenerative conditions from those due to other types of structural damage to the cerebellar or proprioceptive systems. Diagnostic algorithms based on clinical features, imaging, and neurophysiologic and biochemical parameters can be used to guide genetic testing for hereditary ataxias, the diagnosis of which is likely to be greatly improved by the introduction of new-generation DNA-sequencing approaches. Some rare forms of ataxia can be treated, so their diagnosis should not be missed. Proven symptomatic treatments for ataxia are still lacking, but intensive physical therapy appears to be helpful.

  5. Reversible cerebral vasoconstriction syndrome in a 35-year-old woman following hysterectomy and bilateral salpingo-oophorectomy.

    PubMed

    Moussavi, Mohammad; Korya, Daniel; Panezai, Spozhmy; Peeraully, Tasneem; Gizzi, Martin; Kirmani, Jawad F

    2012-11-01

    Reversible cerebral vasoconstriction syndromes (RCVS) have been documented to take place after an inciting event or illness. They present with headache, altered mental status and focal neurologic findings. The differential diagnosis includes primary angiitis of the central nervous system (PACNS) but one major clinical difference is that the symptoms of RCVS usually resolve within days or weeks whereas PACNS is often fatal. Females of childbearing age are most commonly affected with RCVS. Cases of reversible vasculopathy have also been reported in menopausal women. The hormonal and physiologic changes that take place during the postpartum period and menopause may not be very different from those that occur after a hysterectomy and oophorectomy. A case is presented of a 35-year-old woman who underwent a hysterectomy with bilateral salpingo-oophorectomy and then began experiencing severe headaches, visual changes and hemi-sensory loss. Physical examination, imaging and laboratory findings were descriptive of RCVS, and the patient's rapid recovery was consistent with the usual disease progression of a reversible vasculopathy. A reversible cerebral vasoconstriction syndrome may occur in some circumstances after a hysterectomy with bilateral salpingo-oophorectomy. The mechanisms involved in the development of this condition are explained by current research concerning effects on the vasculature of sudden drops in estrogens and progesterones. More studies are required to further establish the pathophysiology, diagnosis and treatment of this condition.

  6. Postpartum posterior reversible encephalopathy syndrome (PRES) in a twin pregnancy complicated by preeclampsia-eclampsia: case report.

    PubMed

    Papoutsis, D; El-Attabi, N; Sizer, A

    2014-01-01

    This is the second case in literature of posterior reversible encephalopathy syndrome (PRES) in a twin pregnancy complicated by preeclampsia-eclampsia. A 27-year-old primigravida with dichorionic diamniotic twin pregnancy was admitted at 36 weeks of gestation for induction of labour due to preeclampsia. On the second day postpartum, the patient developed severe hypertension, visual symptoms, confusion, headache, and eclamptic fits. Head computed tomography (CT) showed hypodense basal ganglia lesions. The patient was treated in the intensive treatment unit with hydralazine and labetalol infusions and anticonvulsants. Five days later, there was complete clinical improvement and follow-up magnetic resonance imaging (MRI) was normal. The patient was discharged 11 days post-delivery. Diagnosis of PRES is based on the presence of clinical features of acute neurologic compromise, abnormal neuroimaging findings, and complete reversibility of findings after prompt treatment. Early recognition and proper treatment result in complete reversibility of this condition.

  7. Cerebellar network plasticity: from genes to fast oscillation.

    PubMed

    Cheron, G; Servais, L; Dan, B

    2008-04-22

    The role of the cerebellum has been increasingly recognized not only in motor control but in sensory, cognitive and emotional learning and regulation. Purkinje cells, being the sole output from the cerebellar cortex, occupy an integrative position in this network. Plasticity at this level is known to critically involve calcium signaling. In the last few years, electrophysiological study of genetically engineered mice has demonstrated the topical role of several genes encoding calcium-binding proteins (calretinin, calbindin, parvalbumin). Specific inactivation of these genes results in the emergence of a fast network oscillation (ca. 160 Hz) throughout the cerebellar cortex in alert animals, associated with ataxia. This oscillation is produced by synchronization of Purkinje cells along the parallel fiber beam. It behaves as an electrophysiological arrest rhythm, being blocked by sensorimotor stimulation. Pharmacological manipulations showed that the oscillation is blocked by GABA(A) and NMDA antagonists as well as gap junction blockers. This cerebellar network oscillation has also been documented in mouse models of human conditions with complex developmental cerebellar dysfunction, such as Angelman syndrome and fetal alcohol syndrome. Recent evidence suggests a relationship between fast oscillation and cerebellar long term depression (LTD). This may have major implications for future therapeutic targeting.

  8. Effect of Valsartan on Cerebellar Adrenomedullin System Dysregulation During Hypertension.

    PubMed

    Figueira, Leticia; Israel, Anita

    2017-02-01

    Adrenomedullin (AM) and its receptors components, calcitonin-receptor-like receptor (CRLR), and receptor activity-modifying protein (RAMP1, RAMP2, and RAMP3) are expressed in cerebellum. Cerebellar AM, AM binding sites and receptor components are altered during hypertension, suggesting a role for cerebellar AM in blood pressure regulation. Thus, we assessed the effect of valsartan, on AM and its receptor components expression in the cerebellar vermis of Wistar Kyoto (WKY) and spontaneously hypertensive (SHR) rats. Additionally, we evaluated AM action on superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx) activity, and thiobarbituric acid reactive substances (TBARS) production in cerebellar vermis. Animals were treated with valsartan or vehicle for 11 days. Rats were sacrificed by decapitation; cerebellar vermis was dissected; and AM, CRLR, RAMP1, RAMP2, and RAMP3 expression was quantified by Western blot analysis. CAT, SOD, and GPx activity was determined spectrophotometrically and blood pressure by non-invasive plethysmography. We demonstrate that AM and RAMP2 expression was lower in cerebellum of SHR rats, while CRLR, RAMP1, and RAMP3 expression was higher than those of WKY rats. AM reduced cerebellar CAT, SOD, GPx activities, and TBARS production in WKY rats, but not in SHR rats. Valsartan reduced blood pressure and reversed the altered expression of AM and its receptors components, as well the loss of AM capacity to reduce antioxidant enzyme activity and TBARS production in SHR rats. These findings demonstrate that valsartan is able to reverse the dysregulation of cerebellar adrenomedullinergic system; and they suggest that altered AM system in the cerebellum could represent the primary abnormality leading to hypertension.

  9. Genetics Home Reference: lissencephaly with cerebellar hypoplasia

    MedlinePlus

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  10. Real-Time Reverse Transcription-PCR Assay Panel for Middle East Respiratory Syndrome Coronavirus

    PubMed Central

    Lu, Xiaoyan; Whitaker, Brett; Sakthivel, Senthil Kumar K.; Kamili, Shifaq; Rose, Laura E.; Lowe, Luis; Mohareb, Emad; Elassal, Emad M.; Al-sanouri, Tarek; Haddadin, Aktham

    2014-01-01

    A new human coronavirus (CoV), subsequently named Middle East respiratory syndrome (MERS)-CoV, was first reported in Saudi Arabia in September 2012. In response, we developed two real-time reverse transcription-PCR (rRT-PCR) assays targeting the MERS-CoV nucleocapsid (N) gene and evaluated these assays as a panel with a previously published assay targeting the region upstream of the MERS-CoV envelope gene (upE) for the detection and confirmation of MERS-CoV infection. All assays detected ≤10 copies/reaction of quantified RNA transcripts, with a linear dynamic range of 8 log units and 1.3 × 10−3 50% tissue culture infective doses (TCID50)/ml of cultured MERS-CoV per reaction. All assays performed comparably with respiratory, serum, and stool specimens spiked with cultured virus. No false-positive amplifications were obtained with other human coronaviruses or common respiratory viral pathogens or with 336 diverse clinical specimens from non-MERS-CoV cases; specimens from two confirmed MERS-CoV cases were positive with all assay signatures. In June 2012, the U.S. Food and Drug Administration authorized emergency use of the rRT-PCR assay panel as an in vitro diagnostic test for MERS-CoV. A kit consisting of the three assay signatures and a positive control was assembled and distributed to public health laboratories in the United States and internationally to support MERS-CoV surveillance and public health responses. PMID:24153118

  11. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

    PubMed

    Gadalla, Kamal K E; Bailey, Mark E S; Cobb, Stuart R

    2011-10-01

    Mutations in the X-linked gene MECP2 (methyl CpG-binding protein 2) are the primary cause of the neurodevelopmental disorder RTT (Rett syndrome), and are also implicated in other neurological conditions. The expression product of this gene, MeCP2, is a widely expressed nuclear protein, especially abundant in mature neurons of the CNS (central nervous system). The major recognized consequences of MECP2 mutation occur in the CNS, but there is growing awareness of peripheral effects contributing to the full RTT phenotype. MeCP2 is classically considered to act as a DNA methylation-dependent transcriptional repressor, but may have additional roles in regulating gene expression and chromatin structure. Knocking out Mecp2 function in mice recapitulates many of the overt neurological features seen in RTT patients, and the characteristic postnatally delayed onset of symptoms is accompanied by aberrant neuronal morphology and deficits in synaptic physiology. Evidence that reactivation of endogenous Mecp2 in mutant mice, even at adult stages, can reverse aspects of RTT-like pathology and result in apparently functionally mature neurons has provided renewed hope for patients, but has also provoked discussion about traditional boundaries between neurodevelopmental disorders and those involving dysfunction at later stages. In the present paper we review the neurobiology of MeCP2 and consider the various genetic (including gene therapy), pharmacological and environmental interventions that have been, and could be, developed to attempt phenotypic rescue in RTT. Such approaches are already providing valuable insights into the potential tractability of RTT and related conditions, and are useful pointers for the development of future therapeutic strategies.

  12. Unilateral posterior reversible encephalopathy syndrome with hypertensive therapy of contralateral vasospasm: case report.

    PubMed

    Dhar, Rajat; Dacey, Ralph; Human, Theresa; Zipfel, Gregory

    2011-11-01

    Hemodynamic treatment of subarachnoid hemorrhage-induced vasospasm is associated with a number of systemic and cerebral risks. However, hypertensive encephalopathy has rarely been reported in the setting of induced hypertension. Recognition of this complication is nonetheless critical because failure to lower blood pressure may lead to worsening of deficits and even permanent injury. This report details a case of unilateral hypertensive encephalopathy (also referred to as posterior reversible encephalopathy syndrome [PRES]) in a subarachnoid hemorrhage patient who was being treated with induced hypertension for symptomatic vasospasm affecting the contralateral hemisphere. This patient developed right hemispheric deficits associated with angiographic vasospasm of the right middle cerebral artery, which responded to induced hypertension. However, within 24 hours of raising blood pressure, the patient deteriorated with new left hemispheric deficits that paradoxically worsened when blood pressure was raised further in response. Computed tomography imaging was suspicious for evolving infarction in the left hemisphere, but on reevaluation, concern for PRES was raised. Magnetic resonance imaging confirmed left hemispheric PRES, and a dramatic neurological improvement occurred almost immediately after lowering blood pressure. Repeat CT showed resolution of the left hemispheric edema. This is the first reported case of unilateral PRES in the setting of subarachnoid hemorrhage. It likely occurred because right-sided vasospasm attenuated ipsilateral distal perfusion pressures, leaving the left hemisphere vulnerable to the consequences of induced hypertension. Hypertensive encephalopathy should be considered in patients with unilateral or asymmetric vasospasm when neurological worsening occurs in the contralateral hemisphere during induced hypertension and/or the patient paradoxically worsens despite raising blood pressure.

  13. A central role for CD68(+) macrophages in hepatopulmonary syndrome. Reversal by macrophage depletion.

    PubMed

    Thenappan, Thenappan; Goel, Ankush; Marsboom, Glenn; Fang, Yong-Hu; Toth, Peter T; Zhang, Hannah J; Kajimoto, Hidemi; Hong, Zhigang; Paul, Jonathan; Wietholt, Christian; Pogoriler, Jennifer; Piao, Lin; Rehman, Jalees; Archer, Stephen L

    2011-04-15

    The etiology of hepatopulmonary syndrome (HPS), a common complication of cirrhosis, is unknown. Inflammation and macrophage accumulation occur in HPS; however, their importance is unclear. Common bile duct ligation (CBDL) creates an accepted model of HPS, allowing us to investigate the cause of HPS. We hypothesized that macrophages are central to HPS and investigated the therapeutic potential of macrophage depletion. Hemodynamics, alveolar-arterial gradient, vascular reactivity, and histology were assessed in CBDL versus sham rats (n = 21 per group). The effects of plasma on smooth muscle cell proliferation and endothelial tube formation were measured. Macrophage depletion was used to prevent (gadolinium) or regress (clodronate) HPS. CD68(+) macrophages and capillary density were measured in the lungs of patients with cirrhosis versus control patients (n = 10 per group). CBDL increased cardiac output and alveolar-arterial gradient by causing capillary dilatation and arteriovenous malformations. Activated CD68(+)macrophages (nuclear factor-κB+) accumulated in HPS pulmonary arteries, drawn by elevated levels of plasma endotoxin and lung monocyte chemoattractant protein-1. These macrophages expressed inducible nitric oxide synthase, vascular endothelial growth factor, and platelet-derived growth factor. HPS plasma increased endothelial tube formation and pulmonary artery smooth muscle cell proliferation. Macrophage depletion prevented and reversed the histological and hemodynamic features of HPS. CBDL lungs demonstrated increased medial thickness and obstruction of small pulmonary arteries. Nitric oxide synthase inhibition unmasked exaggerated pulmonary vasoconstrictor responses in HPS. Patients with cirrhosis had increased pulmonary intravascular macrophage accumulation and capillary density. HPS results from intravascular accumulation of CD68(+)macrophages. An occult proliferative vasculopathy may explain the occasional transition to portopulmonary hypertension

  14. Cerebral endothelial dysfunction in reversible cerebral vasoconstriction syndrome: a case-control study.

    PubMed

    Choi, Hyun Ah; Lee, Mi Ji; Chung, Chin-Sang

    2017-12-01

    The aim of this study is to investigate cerebral endothelial dysfunction in patients with reversible cerebral vasoconstriction syndrome (RCVS). We prospectively recruited patients with RCVS, age-matched controls with episodic migraine, and age-matched healthy controls at Samsung Medical Center from Apr 2015 to Jul 2016. All participants underwent transcranial Doppler evaluation, with a breath-holding maneuver, for the evaluation of bilateral middle cerebral arteries (MCAs), posterior cerebral arteries (PCAs), and the basilar artery (BA). The breath-holding index (BHI) was used to measure cerebral endothelium-dependent vasodilation. Follow-up BHIs were recorded in selected patients with RCVS after 3 months. A total of 84 subjects were recruited for this study (n = 28 in each group of RCVS, episodic migraine, and healthy control; mean age, 49.8 years). The RCVS group showed lower BHIs in all basal arteries, in comparison to healthy controls (p < 0.001, 0.009 for bilateral MCAs, p < 0.001 and 0.028 for bilateral PCAs, and p = 0.060 for the BA). Compared to migraineurs, RCVS patients had lower BHIs only in the anterior circulation (p = 0.002 and 0.038 for bilateral MCAs; p = 0.069 and 0.247 for bilateral PCAs; p = 0.120 for the BA). Of the 10 patients who had follow-up BHIs at 3 months, 7 showed complete normalization, while three did not. Cerebral endothelial function is impaired in a widespread distribution in RCVS. Its role in the pathogenesis and clinical outcome of RCVS should be determined in further studies.

  15. Association of reversed Robin Hood syndrome with risk of stroke recurrence.

    PubMed

    Palazzo, P; Balucani, C; Barlinn, K; Tsivgoulis, G; Zhang, Y; Zhao, L; Dewolfe, J; Toaldo, B; Stamboulis, E; Vernieri, F; Rossini, P M; Alexandrov, A V

    2010-11-30

    Reversed Robin Hood syndrome (RRHS) has recently been identified as one of the mechanisms of early neurologic deterioration in acute ischemic stroke (AIS) patients related to arterial blood flow steal from ischemic to nonaffected brain. We sought to investigate the association of RRHS with risk of stroke recurrence in a single-center cohort study. Consecutive patients with AIS or TIA affecting the anterior circulation were prospectively evaluated with serial NIH Stroke Scale assessments and bilateral transcranial Doppler monitoring with breath-holding test. RRHS was defined according to previously validated criteria. A total of 360 patients (51% women, mean age 62 ± 15 years) had an ischemic stroke (81%) or TIA (19%) in the anterior circulation, and 30 (8%) of them had RRHS. During a mean follow-up period of 6 months (range 1-24), a total of 16 (4%) recurrent strokes (15 ischemic and 1 hemorrhagic) were documented. The cumulative recurrence rate was higher in patients with RRHS (19%; 95% confidence interval [CI] 1-37) compared to the rest (15%; 95% CI 0-30; p = 0.022 by log-rank test). All recurrent strokes in patients with RRHS were cerebral infarcts that occurred in the ipsilateral to the index event anterior circulation vascular territory. After adjusting for demographic characteristics, vascular risk factors, and secondary prevention therapies, RRHS was independently associated with a higher stroke recurrence risk (hazard ratio 7.31; 95% CI 2.12-25.22; p = 0.002). Patients with AIS and RRHS appear to have a higher risk of recurrent strokes that are of ischemic origin and occur in the same arterial territory distribution to the index event. Further independent validation of this association is required in a multicenter setting.

  16. Long-term risk of seizures and epilepsy in patients with posterior reversible encephalopathy syndrome.

    PubMed

    Datar, Sudhir; Singh, Tarun; Rabinstein, Alejandro A; Fugate, Jennifer E; Hocker, Sara

    2015-04-01

    Seizures are common in patients with posterior reversible encephalopathy syndrome (PRES), which is reported in up to 70% of cases, and antiepileptic drugs (AEDs) are commonly prescribed. There is a paucity of data regarding the risk of subsequent seizures following resolution of PRES, and therefore the optimal duration of treatment with AEDs is currently unknown. The objective of this study was to identify the frequency of recurrent seizures and epilepsy following recovery from PRES. We performed a retrospective review of consecutive adults diagnosed with PRES between 2000 and 2010. One hundred twenty-seven patients, median age 53 years (interquartile range [IQR] 37-64), were included in the analysis. The most common causes of PRES were hypertension (72%) and immunosuppression (20%). Renal failure was present in 47%. Eighty-four patients (66%) had seizures at presentation (39 focal, 45 generalized), and 13 (15%) of them presented with status epilepticus. Median duration of follow-up was 3.2 years (IQR 4 months to 6.9 years). Patients with seizures were treated with AEDs for a median of 3 months (IQR 2-7). Fifteen patients (12%) had provoked seizures during the follow-up period; in eight (53%) patients seizures were caused by recurrent PRES. Only three patients had subsequent unprovoked seizures, one of whom was considered to have developed epilepsy. We conclude that unprovoked seizures and epilepsy are uncommon in patients who have recovered from PRES. Discontinuation of AEDs following resolution of PRES should be considered, provided there is adequate control of risk factors, and absence of factors that could substantially lower the seizure threshold. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  17. Brain-Derived Neurotrophic Factor Gene Val66Met Polymorphism Modulates Reversible Cerebral Vasoconstriction Syndromes

    PubMed Central

    Chen, Shih-Pin; Fuh, Jong-Ling; Wang, Shuu-Jiun; Tsai, Shih-Jen; Hong, Chen-Jee; Yang, Albert C.

    2011-01-01

    Background Reversible cerebral vasoconstriction syndrome (RCVS) could be complicated by cerebral ischemic events. Hypothetical mechanisms of RCVS involve endothelial dysfunction and sympathetic overactivity, both of which were reported to be related to brain-derived neurotrophic factor (BDNF). The study investigated the association between functional BDNF Val66Met polymorphism and RCVS. Methods Patients with RCVS and controls were prospectively recruited and genotyped for the BDNF Val66Met polymorphism. Magnetic resonance angiography (MRA) and transcranial color-coded Doppler sonography were employed to evaluate cerebral vasoconstriction. Genotyping results, clinical parameters, vasoconstriction scores, mean flow velocities of the middle cerebral artery (VMCA), and Lindegaard indices were analyzed. Split-sample approach was employed to internally validate the data. Principal Findings Ninety Taiwanese patients with RCVS and 180 age- and gender-matched normal controls of the same ethnicity completed the study. The genotype frequencies did not differ between patients and controls. Compared to patients with Met/Met homozygosity, patients with Val allele had higher mean vasoconstriction scores of all arterial segments (1.60±0.72 vs. 0.87±0.39, p<0.001), VMCA values (116.7±36.2 vs. 82.7±17.9 cm/s, p<0.001), and LI (2.41±0.91 vs. 1.89±0.41, p = 0.001). None of the Met/Met homozygotes, but 38.9% of the Val carriers, had VMCA values of >120 cm/s (p<0.001). Split-sample validation by randomization, age, entry time or residence of patients demonstrated concordant findings. Conclusions Our findings link BDNF Val66Met polymorphism with the severity of RCVS for the first time and implicate possible pathogenic mechanisms for vasoconstriction in RCVS. PMID:21437208

  18. Brain-derived neurotrophic factor gene Val66Met polymorphism modulates reversible cerebral vasoconstriction syndromes.

    PubMed

    Chen, Shih-Pin; Fuh, Jong-Ling; Wang, Shuu-Jiun; Tsai, Shih-Jen; Hong, Chen-Jee; Yang, Albert C

    2011-03-18

    Reversible cerebral vasoconstriction syndrome (RCVS) could be complicated by cerebral ischemic events. Hypothetical mechanisms of RCVS involve endothelial dysfunction and sympathetic overactivity, both of which were reported to be related to brain-derived neurotrophic factor (BDNF). The study investigated the association between functional BDNF Val66Met polymorphism and RCVS. Patients with RCVS and controls were prospectively recruited and genotyped for the BDNF Val66Met polymorphism. Magnetic resonance angiography (MRA) and transcranial color-coded Doppler sonography were employed to evaluate cerebral vasoconstriction. Genotyping results, clinical parameters, vasoconstriction scores, mean flow velocities of the middle cerebral artery (V(MCA)), and Lindegaard indices were analyzed. Split-sample approach was employed to internally validate the data. Ninety Taiwanese patients with RCVS and 180 age- and gender-matched normal controls of the same ethnicity completed the study. The genotype frequencies did not differ between patients and controls. Compared to patients with Met/Met homozygosity, patients with Val allele had higher mean vasoconstriction scores of all arterial segments (1.60±0.72 vs. 0.87±0.39, p<0.001), V(MCA) values (116.7±36.2 vs. 82.7±17.9 cm/s, p<0.001), and LI (2.41±0.91 vs. 1.89±0.41, p = 0.001). None of the Met/Met homozygotes, but 38.9% of the Val carriers, had V(MCA) values of >120 cm/s (p<0.001). Split-sample validation by randomization, age, entry time or residence of patients demonstrated concordant findings. Our findings link BDNF Val66Met polymorphism with the severity of RCVS for the first time and implicate possible pathogenic mechanisms for vasoconstriction in RCVS.

  19. Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model

    PubMed Central

    Goebel-Goody, Susan M.; Wilson-Wallis, Evan D.; Royston, Sara; Tagliatela, Stephanie; Naegele, Janice R.; Lombroso, Paul J.

    2014-01-01

    Fragile X syndrome (FXS), the most common inherited form of intellectual disability and prevailing known genetic basis of autism, is caused by an expansion in the Fmr1 gene that prevents transcription and translation of fragile X mental retardation protein (FMRP). FMRP binds to and controls translation of mRNAs downstream of metabotropic glutamate receptor (mGluR) activation. Recent work identified striatal-enriched protein tyrosine phosphatase (STEP) as an FMRP target mRNA. STEP opposes synaptic strengthening and promotes synaptic weakening by dephosphorylating its substrates, including ERK1/2, p38, Fyn, Pyk2, and subunits of NMDA and AMPA receptors. Here we demonstrate that STEP translation is dysregulated in Fmr1KO mice, resulting in elevated basal levels of STEP with a concomitant loss of mGluR-dependent STEP translation. We hypothesized that the weakened synaptic strength and behavioral abnormalities reported in FXS may be linked to excess levels of STEP. To test this hypothesis, we reduced or eliminated STEP genetically in Fmr1KO mice. In addition to attenuating audiogenic seizures and seizure-induced c-Fos activation in the periaqueductal gray, genetically reducing STEP in Fmr1KO mice reversed characteristic social abnormalities, including approach, investigation, novelty-induced hyperactivity and anxiety. Loss of STEP also corrected select non-social anxiety-related behaviors in Fmr1KO mice, such as open arm exploration in the elevated plus maze. Our findings indicate that genetically reducing STEP significantly diminishes seizures and restores social and non-social anxiety-related behaviors in Fmr1KO mice, suggesting that strategies to inhibit STEP activity may be effective for treating patients with FXS. PMID:22405502

  20. Tardive Syndromes are Rarely Reversible after Discontinuing Dopamine Receptor Blocking Agents: Experience from a University-based Movement Disorder Clinic

    PubMed Central

    Zutshi, Deepti; Cloud, Leslie J.; Factor, Stewart A.

    2014-01-01

    Background Several studies have examined reversibility of tardive syndromes (TS), primarily in psychotic patients who are maintained on dopamine receptor blocking drugs. The results have varied widely. However, few have assessed remission rates after discontinuing the offending agents. This study evaluated reversibility of TS in patients who permanently withdrew the causative agent(s). We also examined for any possible clinical predictors of reversibility. Methods A retrospective cohort of 108 TS patients was studied. Most of the patients were not psychotic; most patients were being treated either for a mood disorder with atypical antipsychotics or for a gastrointestinal disturbance with metoclopramide. Patients were stratified on the basis of reversibility, and statistical tests were used for subgroup comparisons of relevant clinical variables. Logistic regression was undertaken to identify clinical variables predictive of reversibility. Results Only 13% of the cohort experienced reversibility of the TS, 2% without medical intervention. When stratified by reversibility, there were no significant differences in any study variables between subgroups. None of the study variables predicted reversibility in the logistic regression. Discussion Our study demonstrated a low remission rate for TS in a cohort of psychiatric and non-psychiatric patients seen in a movement disorder clinic after the offending agents were completely withdrawn. Such a finding has significant prognostic implications. It is possible that limitations of the retrospective design may have resulted in an underestimation. There is a clear need for prospective, multicenter, clinical trials in populations that can be safely withdrawn from dopamine receptor blocking agents so that true remission rates can be measured. PMID:25374768

  1. Metalinguistic deficits in patients with cerebellar dysfunction: empirical support for the dysmetria of thought theory.

    PubMed

    Guell, Xavier; Hoche, Franziska; Schmahmann, Jeremy D

    2015-02-01

    The cerebellar cognitive affective syndrome (CCAS) includes disruption of linguistic processing such as verbal fluency, verbal working memory, grammar, and speech perception. We set out to examine linguistic capabilities in patients with cerebellar lesions to determine which domains are spared and which impaired and to evaluate the underlying cognitive structure of these deficits. Forty-four patients with cerebellar disease were compared to 40 healthy controls on the Oral Sentence Production Test (OSPT) which assesses production of sentences with correct syntactic structure and semantic quality. Twenty-five of these cerebellar patients and 25 controls received the Test of Language Competence-Expanded (TLC-E) that assesses metalinguistic ability. The OSPT failed to reveal differences between patients and controls. In contrast, all cerebellar patients were impaired on each of the four TLC-E subtests. Differences between isolated cerebellar and complex cerebrocerebellar patients were nonsignificant. These results confirm and extend prior observations of the TLC-E in patients with cerebellar lesions and suggest three separate but related language impairments following cerebellar dysfunction: (1) disruption in automatic adjustment of intact grammatical and semantic abilities to a linguistic context in sentence production, (2) disruption in automatic adjustment to a linguistic context in sentence interpretation, and (3) disruption of cognitive processes essential for linguistic skills, such as analysis and sequential logical reasoning. These findings are consistent with the unifying framework of the universal cerebellar transform and the dysmetria of thought theory and provide new insights into the nature of the cognitive impairments in patients with the CCAS.

  2. Paraneoplastic cerebellar degeneration as a marker of endometrial cancer recurrence.

    PubMed

    Lie, Geoffrey; Morley, Thomas; Chowdhury, Muhammad

    2016-05-18

    An 84-year-old woman developed a cerebellar syndrome having undergone a total abdominal hysterectomy and bilateral salpingo-oophorectomy for endometrial cancer 1 year previously. She was found to be anti-Yo antibody positive and was diagnosed with paraneoplastic cerebellar degeneration (PCD). A subsequent positron emission tomography scan and lymph node biopsy identified recurrence of her endometrial cancer. This case illustrates how PCD can be an indicator of cancer recurrence, underlines the significance of PCD as a prompt to search for underlying malignancy, and highlights the difficulties PCD poses to the clinician in terms of diagnosis and management.

  3. [Anatomical and clinical correlations in the cerebellar eredodegeneration].

    PubMed

    Pea, Umberto; de Luca, Francesco; Nicola, Massimiliano; Galli, Luigi

    2003-06-01

    Spinocerebellar hereditary degeneration makes up a heterogeneous group of diseases headed by Strumpell-Lorrain syndrome and Friedreich's disease. They are a heterogeneous group characterized by spasticity and paraplegia and related to demyelinization of the pyramidal tract and of the posterior cordons. During a 4-year period, we studied 14 patients (42-61 years old) suffering cerebellar eredodegeneration (hereditary ataxia). The aim of our work was to correlate anatomopathological findings with clinical signs. The important role played by the cerebellum in vesicosphincterial coordination was shown; in particular severe alteration of the ponto-cerebellar bundles could be cause of the abnormal behaviour of the detrusor.

  4. Cerebellar agenesis revisited.

    PubMed

    Boyd, C A R

    2010-03-01

    New clinical and employment information, together with over-looked previously published information, on a patient (H.C.) is reviewed. H.C., who died at the age of 76 in 1939, was found, by chance during anatomical dissection, to lack a cerebellum. This synthesis challenges an unusual and interesting account of cerebellar agenesis published in Brain in 1994 by Glickstein (see also Glickstein, 2006), in which the allegedly 'bogus' oral history of this individual's motor skills was held to have led to 'medical myth making'. Part of the burden of the 1994 paper was to show that 'cerebellar agenesis is always associated with profound motor deficits'. Glickstein therefore focussed on an apparent 'exception' to this conclusion, concerning the brain of a single case, H.C., who died 70 years ago, who 'had given rise to an oral tradition alleging that normal movement is possible despite total cerebellar agenesis'. Glickstein (1994) concludes 'despite an oral tradition to the contrary there is absolutely no evidence about the motor capacities of this man during his life'. Rather remarkably, an extensive history of this individual has become available, its significance becoming noted only this year; this complements and adds to a previous brief history published on H.C. (and not mentioned in the 1994 paper; see below). The new evidence includes the death certificate stating the man's occupation to have been 'manual labourer' with all the implications relevant to his supposed incapacity. The written historical record thus confronts the alleged 'myth'. It is interesting to note how medical records on an undoubtedly very ordinary citizen were recorded in London in the 1930s (before the NHS was set up in 1949) and how they could be made accessible to clinical colleagues in east London in the middle of World War II blitz bombing of the capital.

  5. Famotidine-induced reversal of meperidine-related serotonin syndrome: a case report

    PubMed Central

    Joe, Soohyun; Park, Junyi; Lee, Dongwon; Son, Jongchul; Kim, Hyun

    2017-01-01

    Serotonin syndrome is an unexpected fatal adverse event related to serotonergic medication. This case report is the first report describing the possible treatment effect of famotidine on serotonin syndrome. Furthermore, this is the first case report of serotonin syndrome induced by meperidine alone in a patient with no previous history suggesting a susceptibility to serotonin syndrome. A 70-year-old male with no recent history of serotonergic drug use presented with severe serotonin syndrome following ureteroscopy, possibly due to postoperative meperidine administration. The patient's symptoms included hypertension, tachycardia, tachypnea, hyperthermia, myoclonus, diaphoresis, retching, nausea, agitation, and semicoma mentality with no pupillary light reflex. Symptoms began to subside immediately after the administration of intravenous famotidine for prevention of aspiration pneumonia, with mental and neurological symptoms showing improvement initially, followed by autonomic symptoms. This case report suggests that the histamine type 2 receptor antagonist famotidine may be an effective emergency treatment for serotonin syndrome. PMID:28367296

  6. Childhood Cerebellar Ataxia

    PubMed Central

    Fogel, Brent L.

    2012-01-01

    Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous but key considerations may vary based on the child's age at onset, the course of illness, and subtle differences in phenotype. Systematic investigation is recommended for efficient diagnosis. In this review, we outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children. PMID:22764177

  7. Toxic agents causing cerebellar ataxias.

    PubMed

    Manto, Mario

    2012-01-01

    The cerebellum is particularly vulnerable to intoxication and poisoning, especially so the cerebellar cortex and Purkinje neurons. In humans, the most common cause of a toxic lesion to the cerebellar circuitry is alcohol related, but the cerebellum is also a main target of drug exposure (such as anticonvulsants, antineoplastics, lithium salts, calcineurin inhibitors), drug abuse and addiction (such as cocaine, heroin, phencyclidine), and environmental toxins (such as mercury, lead, manganese, toluene/benzene derivatives). Although data for the prevalence and incidence of cerebellar lesions related to intoxication and poisoning are still unknown in many cases, clinicians should keep in mind the list of agents that may cause cerebellar deficits, since toxin-induced cerebellar ataxias are not rare in daily practice. Moreover, the patient's status may require immediate therapies when the intoxication is life-threatening. 2012 Elsevier B.V. All rights reserved.

  8. Early childhood obesity is associated with compromised cerebellar development.

    PubMed

    Miller, Jennifer L; Couch, Jessica; Schwenk, Krista; Long, Michelle; Towler, Stephen; Theriaque, Douglas W; He, Guojun; Liu, Yijun; Driscoll, Daniel J; Leonard, Christiana M

    2009-01-01

    As part of a study investigating commonalities between Prader-Willi syndrome (PWS-a genetic imprinting disorder) and early-onset obesity of unknown etiology (EMO) we measured total cerebral and cerebellar volume on volumetric magnetic resonance imaging (MRI) images. Individuals with PWS (N = 16) and EMO (N = 12) had smaller cerebellar volumes than a control group of 15 siblings (p = .02 control vs. EMO; p = .0005 control vs. PWS), although there was no difference among the groups in cerebral volume. Individuals with PWS and EMO also had impaired cognitive function: general intellectual ability (GIA): PWS 65 +/- 25; EMO 81 +/- 19; and Controls 112 +/- 13 (p < .0001 controls vs. PWS and controls vs. EMO). As both conditions are characterized by early-onset obesity and slowed cognitive development, these results raise the possibility that early childhood obesity retards both cerebellar and cognitive development.

  9. Early Childhood Obesity is Associated with Compromised Cerebellar Development

    PubMed Central

    Miller, Jennifer L; Couch, Jessica; Schwenk, Krista; Long, Michelle; Towler, Stephen; Theriaque, Douglas W; He, Guojun; Liu, Yijun; Driscoll, Daniel J; Leonard, Christiana M

    2009-01-01

    As part of a study investigating commonalities between Prader-Willi syndrome (PWS — a genetic imprinting disorder) and early-onset obesity of unknown etiology (EMO) we measured total cerebral and cerebellar volume on volumetric MRI images. Individuals with PWS (n=16) and EMO (n=12) had smaller cerebellar volumes than a control group of 15 siblings (p=0.02 control vs. EMO; p=0.0005 control vs. PWS), although there was no difference among the groups in cerebral volume. Individuals with PWS and EMO also had impaired cognitive function: general intellectual ability (GIA): PWS 65 ± 25; EMO 81 ± 19; and Controls 112 ± 13 (p<0.0001 controls vs. PWS and controls vs. EMO). As both conditions are characterized by early-onset obesity and slowed cognitive development, these results raise the possibility that early childhood obesity retards both cerebellar and cognitive development. PMID:19437203

  10. Reversible posterior leukoencephalopathy syndrome and silent cerebral infarcts are associated with severe acute chest syndrome in children with sickle cell disease.

    PubMed

    Henderson, Jessica N; Noetzel, Michael J; McKinstry, Robert C; White, Desiree A; Armstrong, Melissa; DeBaun, Michael R

    2003-01-15

    Patients with severe acute chest syndrome (ACS) requiring endotracheal intubation and erythrocytopheresis are at increased risk for neurologic morbidity. This study examines patients with sickle cell disease who developed severe episodes of ACS, leading to endotracheal intubation, ventilatory support for respiratory failure, and erythrocytapheresis. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) studies, a neurologic examination by a pediatric neurologist, and cognitive testing were done in all patients. Five consecutive patients, aged 3 to 9 years, were identified with severe ACS. All patients developed neurologic complications resulting from ACS episodes, including seizures (n = 2), silent cerebral infarcts (n = 3), cerebral hemorrhage (n = 2), and reversible posterior leukoencephalopathy syndrome (n = 3). Children with severe ACS should have a magnetic resonance image of the brain, neurologic examination by a neurologist, and cognitive testing to detect the presence of neurologic morbidity.

  11. Epistatic interactions between Chd7 and Fgf8 during cerebellar development

    PubMed Central

    Basson, M Albert

    2014-01-01

    CHARGE syndrome is a rare, autosomal dominant condition caused by mutations in the CHD7 gene. Although central nervous system defects have been reported, the detailed description and analysis of these anomalies in CHARGE syndrome patients lag far behind the description of other, more easily observed defects. We recently described cerebellar abnormalities in CHARGE syndrome patients and used mouse models to identify the underlying causes. Our studies identified altered expression of the homeobox genes Otx2 and Gbx2 in the developing neural tube of Chd7−/− embryos. Furthermore, we showed that the expression of Fgf8 is sensitive to Chd7 gene dosage and demonstrated an epistatic relationship between these genes during cerebellar vermis development. These findings provided, for the first time, an example of cerebellar vermis hypoplasia in a human syndrome that can be linked to deregulated FGF signaling. I discuss some of these observations and their implications for CHARGE syndrome. PMID:25054096

  12. Reversal of Handedness Effects on Bimanual Coordination in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Mulvey, G. M.; Ringenbach, S. D. R.; Jung, M. L.

    2011-01-01

    Background: Research on unimanual tasks suggested that motor asymmetries between hands may be reduced in people with Down syndrome. Our study examined handedness (as assessed by hand performance) and perceptual-motor integration effects on bimanual coordination. Methods: Adults with Down syndrome (13 non-right-handed, 22 right-handed), along with…

  13. Reversal of Handedness Effects on Bimanual Coordination in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Mulvey, G. M.; Ringenbach, S. D. R.; Jung, M. L.

    2011-01-01

    Background: Research on unimanual tasks suggested that motor asymmetries between hands may be reduced in people with Down syndrome. Our study examined handedness (as assessed by hand performance) and perceptual-motor integration effects on bimanual coordination. Methods: Adults with Down syndrome (13 non-right-handed, 22 right-handed), along with…

  14. Crossed Cerebellar Diaschisis

    PubMed Central

    Han, Shuguang; Wang, Xiaopeng; Xu, Kai; Hu, Chunfeng

    2016-01-01

    Abstract Crossed cerebellar diaschisis (CCD) describes a depression of oxidative metabolism glucose and blood flow in the cerebellum secondary to a supratentorial lesion in the contralateral cerebral hemisphere. PET/MR has the potential to become a powerful tool for demonstrating and imaging intracranial lesions .We herein report 3 cases of CCD imaging using a tri-modality PET/CT–MR set-up for investigating the value of adding MRI rather than CT to PET in clinical routine. We describe 3 patients with CCD and neurological symptoms in conjunction with abnormal cerebral fluorodeoxyglucose (FDG) positron emission tomography/computed tomography-magnetic resonance imaging (PET/CT–MR) manifestations including arterial spin-labeling (ASL) and T2-weighted images. In all, 18FDG-PET/CT detected positive FDG uptake in supratentorial lesions, and hypometabolism with atrophy in the contralateral cerebellum. More than that, hybrid PET/MRI provided a more accurate anatomic localization and ASL indicated disruption of the cortico-ponto-cerebellar pathway. Using pathology or long-term clinical follow-up to confirm the PET and ASL findings, the supratentorial lesions of the 3 patients were respectively diagnosed with cerebral infarction, recurrent glioma, and metastasis. The reports emphasize the significance of multimodality radiological examinations. Multimodality imaging contributes to proper diagnosis, management, and follow-up of supratentorial lesions with CCD. PMID:26765477

  15. Dietary nitrite reverses features of postmenopausal metabolic syndrome induced by high-fat diet and ovariectomy in mice.

    PubMed

    Ohtake, Kazuo; Ehara, Nobuyuki; Chiba, Hiroshige; Nakano, Genya; Sonoda, Kunihiro; Ito, Junta; Uchida, Hiroyuki; Kobayashi, Jun

    2017-04-01

    Menopausal women are at greater risk of developing metabolic syndrome with reduced endothelial nitric oxide synthase (eNOS) activity. Hormone replacement therapy increases eNOS activity and normalizes some characteristics of metabolic syndrome. We hypothesized that nitric oxide (NO) supplementation should have a therapeutic effect on this syndrome. We examined the effect of dietary nitrite in a mouse model with postmenopausal metabolic syndrome induced by ovariectomy (OVX) and a high fat diet (HF). C57BL/6 female mice were divided into five groups, sham+normal fat diet (NF), sham+ HF, OVX+HF with or without sodium nitrite (50 mg and 150 mg/l) in the drinking water. Daily food intake and weekly body weight were monitored for 18 wk. OVX and HF significantly reduced plasma levels of nitrate/nitrite (NOx), and mice developed obesity with visceral hypertrophic adipocytes and increased transcriptional levels of monocyte chemoattractant protein-1, TNF-α, and IL-6 in visceral fat tissues. The proinflammatory state in the adipocytes provoked severe hepatosteatosis and insulin resistance in OVX+HF group compared with sham+NF group. However, dietary nitrite significantly suppressed adipocyte hypertrophy and transcriptions of proinflammatory cytokines in visceral fat in a dose-dependent manner. The improvement of visceral inflammatory state consequently reversed the hepatosteatosis and insulin resistance observed in OVX+HF mice. These results suggest that an endogenous NO defect might underlie postmenopausal metabolic syndrome and that dietary nitrite provides an alternative source of NO, subsequently compensating for metabolic impairments of this syndrome. Copyright © 2017 the American Physiological Society.

  16. Posterior Reversible Encephalopathy Syndrome and Fatal Cryptococcal Meningitis After Immunosuppression in a Patient With Elderly Onset Inflammatory Bowel Disease

    PubMed Central

    Vasant, Dipesh H.; Limdi, Jimmy K.; Borg-Bartolo, Simon P.; Bonington, Alec

    2016-01-01

    Advanced age and associated comorbidities are-recognized predictors of life-threatening adverse outcomes, such as opportunistic infection following immunosuppressive therapy. We describe the case of an elderly patient with stricturing colonic Crohn’s disease and significant clinical comorbidities, initially controlled with corticosteroid induction followed by infliximab, whose course was complicated by fatal disseminated cryptococcal infection and posterior reversible encephalopathy syndrome. Our patient’s case highlights rare, but serious, complications of immunosuppression. In applying modern treatment paradigms to the elderly, the clinician must consider the potential for more pronounced adverse effects in this potentially vulnerable group, maximizing benefit and minimizing harm. PMID:27807560

  17. Reversible cerebral vasoconstriction syndromes and primary angiitis of the central nervous system: clinical, imaging, and angiographic comparison.

    PubMed

    Singhal, Aneesh B; Topcuoglu, Mehmet A; Fok, Joshua W; Kursun, Oguzhan; Nogueira, Raul G; Frosch, Matthew P; Caviness, Verne S

    2016-06-01

    Reversible cerebral vasoconstriction syndromes (RCVS) and primary angiitis of the central nervous system (PACNS) are invariably considered in the differential diagnosis of new cerebral arteriopathies. However, prompt and accurate diagnosis remains challenging. Here we compared the features of 159 RCVS to 47 PACNS patients and developed criteria for prompt bedside diagnosis. Recurrent thunderclap headache (TCH), and single TCH combined with either normal neuroimaging, border zone infarcts, or vasogenic edema, have 100% positive predictive value for diagnosing RCVS or RCVS-spectrum disorders. In patients without TCH and positive angiography, neuroimaging can discriminate RCVS (no lesion) from PACNS (deep/brainstem infarcts). Ann Neurol 2016;79:882-894. © 2016 American Neurological Association.

  18. Sheehan's syndrome with reversible dilated cardiomyopathy: A case report and brief overview.

    PubMed

    Islam, A K M Monwarul; Hasnat, Mohammad A; Doza, Fatema; Jesmin, Humayra

    2014-04-01

    Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan's syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan's syndrome while dealing with a case of 'peripartal dilated cardiomyopathy'. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients.

  19. Sheehan’s syndrome with reversible dilated cardiomyopathy: A case report and brief overview

    PubMed Central

    Islam, A.K.M. Monwarul; Hasnat, Mohammad A.; Doza, Fatema; Jesmin, Humayra

    2014-01-01

    Sheehan’s syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan’s syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan’s syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan’s syndrome while dealing with a case of ‘peripartal dilated cardiomyopathy’. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients. PMID:24719543

  20. Autosomal recessive cerebellar ataxias

    PubMed Central

    Palau, Francesc; Espinós, Carmen

    2006-01-01

    Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000), ataxia-telangiectasia (1–2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia. PMID:17112370

  1. Reversible cerebral vasoconstriction syndrome (RCVS) in antiphospholipid antibody syndrome (APLA): the role of centrally acting vasodilators. Case series and review of literature.

    PubMed

    Gupta, Sarthak; Zivadinov, Robert; Ramasamy, Deepa; Ambrus, Julian L

    2014-12-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is Raynaud's phenomenon of the brain. Changes in neurological function are dependent upon which areas of the brain are deprived of normal blood flow. Antiphospholipid antibody syndrome (APLA) is a common cause of Raynaud's phenomenon that can occur anywhere in the body, including the brain. Management of CNS vasospasm generally involves the use of centrally acting calcium channel blockers, which have been shown to relieve the associated headaches and transient neurological symptoms associated with it. Three patients with APLA and RCVS from our clinics are illustrated. It is demonstrated that the use of centrally acting calcium channel-blocking drugs, such as nimodipine, which prevent and reverse CNS vasospasm, led to clinical improvement in our patients over the course of 5-9 years. All of them had MRIs done at the initiation of therapy and 5-9 years after being on therapy. MRI measures of T2 lesion volumes (LVs) and number were obtained. All three patients had a good response in controlling clinical symptoms related to CNS vasospasm, Raynaud's phenomenon, visual disturbances, confusion, headaches, and hearing loss. There was also a resolution in the MRI findings of these patients. This case series of three patients shows a clinical improvement and decrease in T2 LV and number in patients with APLA and Raynaud's syndrome on centrally acting calcium channel blockers. RCVS is much more common than that currently appreciated. APLA is the common cause of RCVS. Further studies are needed to determine the optimal methods to diagnose RCVS and optimal therapies to treat it.

  2. Anti-Yo positive paraneoplastic cerebellar degeneration in the setting of cholangiocarcinoma.

    PubMed

    Bruhnding, Aubree; Notch, Derek; Beard, Albertine

    2017-02-01

    Paraneoplastic neurological syndromes are a rare complication of malignancy. Subacute cerebellar ataxia, or paraneoplastic cerebellar degeneration, usually presents in women with a subcate onset of gait instability, followed by progressive limb and trunk ataxia, dysarthria, diplopia, and dysphagia that occurs in the setting of, or precedes the diagnosis of, a gynecologic or breast malignancy and clinically stabilizes within six months. The most common autoantibody associated with PCD is purkinje cell cytoplasmic antibody type 1, also known as anti-Yo. Here we describe the first reported case of a man with anti-Yo positive paraneoplastic cerebellar degeneration in the setting of occult cholangiocarcinoma.

  3. Pediatric cerebellar stroke associated with elevated titer of antibodies to β2-glycoprotein.

    PubMed

    Spalice, Alberto; Del Balzo, Francesca; Perla, Francesco Massimo; Papetti, Laura; Nicita, Francesco; Ursitti, Fabiana; Properzi, Enrico

    2011-06-01

    Antibodies to 2-glycoprotein I (anti-2GPI) have been associated with recurrent thrombosis and pregnancy morbidity. However, the prevalence of anti-2GPI in children suffering from cerebral and cerebellar infarction is unknown. We report on a 10-month-old boy who had an ischemic cerebellar stroke, secondary to antiphospholipid syndrome with high titers of immunoglobulin G anti-2GPI (first titer: 132U) anticardiolipin antibodies and lupus anticoagulant tests were negative. All other causes of infarction were excluded. To our knowledge, this is the first reported case of childhood cerebellar ischemic stroke with only anti-2GPI but no antibodies detectable in standard antiphospholipid assays.

  4. Controlateral cavernous syndrome, brainstem congestion and posterior fossa venous thrombosis with cerebellar hematoma related to a ruptured intracavernous carotid artery aneurysm.

    PubMed

    Aldea, Sorin; Guedin, Pierre; Roccatagliata, Luca; Boulin, Anne; Auliac, Stéphanie; Dupuy, Michel; Cerf, Charles; Gaillard, Stéphan; Rodesch, Georges

    2011-06-01

    Intracavernous carotid artery aneurysms (ICCAs) are rarely associated with life-threatening complications. We describe a 55-year-old woman who, after the rupture of an intracavernous carotid artery aneurysm, presented with a contralateral cavernous sinus syndrome and severe posterior fossa and spinal cord symptoms. Following parent artery occlusion, thrombosis of the posterior fossa and spinal cord veins caused a progressive worsening of the neurological status to a "locked-in" state. The patient fully recovered with anticoagulation therapy. Comprehension of the pathophysiological mechanism associated with the rupture of ICCA and early diagnosis of the related symptoms are essential in order to plan a correct treatment that includes the management of the aneurysm rupture and of possible complications related to venous thrombosis.

  5. Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism.

    PubMed Central

    Fenton, D A; Wilkinson, J D; Toseland, P A

    1983-01-01

    Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism. PMID:6620277

  6. Posterior Reversible Encephalopathy Syndrome (PRES): Restricted Diffusion does not Necessarily Mean Irreversibility

    PubMed Central

    Wagih, Alaa; Mohsen, Laila; Rayan, Moustafa M.; Hasan, Mo’men M.; Al-Sherif, Ashraf H.

    2015-01-01

    Summary Background Restricted diffusion is the second most common atypical presentation of PRES. This has a very important implication, as lesions with cytotoxic edema may progress to infarction. Several studies suggested the role of DWI in the prediction of development of infarctions in these cases. Other studies, however, suggested that PRES is reversible even with cytotoxic patterns. Our aim was to evaluate whether every restricted diffusion in PRES is reversible and what factors affect this reversibility. Material/Methods Thirty-six patients with acute neurological symptoms suggestive of PRES were included in our study. Inclusion criteria comprised imaging features of atypical PRES where DWI images and ADC maps show restricted diffusion. Patients were imaged with 0.2-T and 1.5-T machines. FLAIR images were evaluated for the severity of the disease and a FLAIR/DWI score was used. ADC values were selectively recorded from the areas of diffusion restriction. A follow-up MRI study was carried out in all patients after 2 weeks. Patients were classified according to reversibility into: Group 1 (reversible PRES; 32 patients) and Group 2 (irreversible changes; 4 patients). The study was approved by the University’s research ethics committee, which conforms to the declaration of Helsinki. Results The age and blood pressure did not vary significantly between both groups. The total number of regions involved and the FLAIR/DWI score did not vary significantly between both groups. Individual regions did not reveal any tendency for the development of irreversible lesions. Similarly, ADC values did not reveal any significant difference between both groups. Conclusions PRES is completely reversible in the majority of patients, even with restricted diffusion. None of the variables under study could predict the reversibility of PRES lesions. It seems that this process is individual-dependent. PMID:25960819

  7. Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

    PubMed

    Singh, Ravinder-Jeet; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Vengalil, Seena; Prasad, Chandrajit; Nalini, Atchayaram

    2017-02-01

    Preferential involvement of C7, C8, T1 level anterior horn cells is a typical feature in Hirayama disease/brachial monomelic amyotrophy (BMMA). There are no clinico-electrophysiological studies to substantiate the peculiar pattern of muscle involvement. Thirty subjects, 10 in each group of BMMA, amyotrophic lateral sclerosis (ALS) and age-matched normal healthy subjects underwent detailed clinical and electrophysiological testing. Results showed that the mean age at evaluation for BMMA and ALS patients was 25.8 ± 3.8 and 51.8 ± 9.5 years, respectively; illness duration was 8.1 ± 5.7 years and 11.14 ± 2.85 months, respectively. Clinically, all BMMA patients had reverse of split hand (RSH) syndrome [abductor digiti minimi (ADM) affected more than abductor pollicis brevis (APB)], while 7/10 ALS patients had classical split hand syndrome (APB affected more than ADM). In BMMA, the compound muscle action potential (CMAP) of APB was preserved but reduced/absent in ADM compared to the ALS group which demonstrated reverse findings. APB/ADM ratio was >0.8 in the BMMA group (>1.4 in 80%), around 1.0 in normal controls (none had >1.4) and <0.8 in ALS (70% having values <0.6). In conclusion, RSH syndrome may provide valuable diagnostic clues to differentiate this relatively self-restricted disease from progressive degenerative disease like ALS.

  8. Speech prosody in cerebellar ataxia

    NASA Astrophysics Data System (ADS)

    Casper, Maureen

    The present study sought an acoustic signature for the speech disturbance recognized in cerebellar degeneration. Magnetic resonance imaging was used for a radiological rating of cerebellar involvement in six cerebellar ataxic dysarthric speakers. Acoustic measures of the [pap] syllables in contrastive prosodic conditions and of normal vs. brain-damaged patients were used to further our understanding both of the speech degeneration that accompanies cerebellar pathology and of speech motor control and movement in general. Pair-wise comparisons of the prosodic conditions within the normal group showed statistically significant differences for four prosodic contrasts. For three of the four contrasts analyzed, the normal speakers showed both longer durations and higher formant and fundamental frequency values in the more prominent first condition of the contrast. The acoustic measures of the normal prosodic contrast values were then used as a model to measure the degree of speech deterioration for individual cerebellar subjects. This estimate of speech deterioration as determined by individual differences between cerebellar and normal subjects' acoustic values of the four prosodic contrasts was used in correlation analyses with MRI ratings. Moderate correlations between speech deterioration and cerebellar atrophy were found in the measures of syllable duration and f0. A strong negative correlation was found for F1. Moreover, the normal model presented by these acoustic data allows for a description of the flexibility of task- oriented behavior in normal speech motor control. These data challenge spatio-temporal theory which explains movement as an artifact of time wherein longer durations predict more extreme movements and give further evidence for gestural internal dynamics of movement in which time emerges from articulatory events rather than dictating those events. This model provides a sensitive index of cerebellar pathology with quantitative acoustic

  9. Redistribution of crossed cerebellar diaschisis

    SciTech Connect

    Kim, S.M.; Park, C.H.; Intenzo, C.M.; Bell, R.

    1989-04-01

    Crossed cerebellar diaschisis refers to a functional decrease in blood flow to the cerebellar hemisphere contralateral to the infarcted or ischemic cerebral hemisphere. This phenomenon can be depicted using PET as well as using SPECT. This condition, seen on early I-123 IMP brain scans, can show redistribution on the three hour delayed scan, presumably due to normal non-specific amine receptor sites of the affected cerebellum. One such case is reported.

  10. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data

    PubMed Central

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients’ perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by

  11. Characteristics of reversible and nonreversible COPD and asthma and COPD overlap syndrome patients: an analysis of salbutamol Easyhaler data.

    PubMed

    Müller, Veronika; Gálffy, Gabriella; Orosz, Márta; Kováts, Zsuzsanna; Odler, Balázs; Selroos, Olof; Tamási, Lilla

    2016-01-01

    The choice of inhaler device for bronchodilator reversibility is crucial since suboptimal inhalation technique may influence the result. On the other hand, bronchodilator response also varies from time to time and may depend on patient characteristics. In this study, patients with airway obstruction (forced expiratory volume in 1 second [FEV1]/forced vital capacity [FVC] ratio <70% in chronic obstructive pulmonary disease [COPD]; <80% in asthma) were included (n=121, age: 57.8±17.3 years). Bronchodilator reversibility (American Thoracic Society/European Respiratory Society criteria) was tested in patients with COPD (n=63) and asthma and COPD overlap syndrome (ACOS; n=12). Forty-six asthmatics served as controls. Reversibility was tested with 400 µg salbutamol dry powder inhaler (Buventol Easyhaler, Orion Pharma Ltd, Espoo, Finland). Demographic data and patients' perceptions of Easyhaler compared with β2-agonist pressurized metered dose inhalers (pMDIs) were analyzed. American Thoracic Society/European Respiratory Society guideline defined reversibility was found in 21 out of 63 COPD patients and in two out of 12 ACOS patients. Airway obstruction was more severe in COPD patients as compared with controls (mean FEV1 and FEV1% predicted both P<0.0001). Average response to salbutamol was significantly lower in COPD patients compared with asthma controls (P<0.0001). Reversibility was equally often found in smokers as in never-smokers (33% vs 34%). Nonreversible COPD patients had higher mean weight, body mass index, and FEV1/FVC compared with reversible COPD patients. Most patients preferred Easyhaler and defined its use as simpler and more effective than use of a pMDI. Never-smokers and patients with asthma experienced Easy-haler somewhat easier to use than smokers and patients with COPD. In conclusion, a substantial part of patients with COPD or ACOS showed reversibility to salbutamol dry powder inhaler. Nonreversible patients with COPD were characterized by higher

  12. Cerebellar vermis proteome of chronic alcoholic individuals.

    PubMed

    Alexander-Kaufman, Kimberley; Harper, Clive; Wilce, Peter; Matsumoto, Izuru

    2007-08-01

    Cerebellar changes are commonly associated with alcoholism and chronic alcohol consumption can produce profound impairments in motor functioning and various aspects of cognition. Although the mechanisms underlying alcohol-induced changes in the cerebellar vermis are poorly understood, observations in the alcoholic vermis are thought to be consequential to common alcohol-related factors, particularly thiamine deficiency. In the present study, we used a proteomics-based approach to compare protein expression profiles of the cerebellar vermis from human alcoholic individuals (both neurologically uncomplicated and alcoholic individuals complicated with liver cirrhosis) and healthy control brains. This article complements our recent studies performed on alcoholic prefrontal gray and white matter and splenium of the corpus callosum (CC). Like the CC study, several liver cirrhosis-specific proteins were identified in the vermis, perhaps indicating the effects of liver dysfunction in this brain region. Among other protein expression changes observed are disturbances in the levels of thiamine-dependent enzymes. A derangement in energy metabolism perhaps related to thiamine deficiency seems to be important in both alcoholic groups, even where there are no clinical or pathological findings of Wernicke-Korsakoff syndrome. These results suggest that clinically and pathologically uncomplicated alcoholic cases may not in fact be "uncomplicated," as at the proteome level we seem to be isolating the confounding effects of nutritional deficiencies and liver dysfunction and perhaps their role in alcohol-related vermis damage. Together, these results indicate that the alcohol-related pathology of the vermis is more multifactorial than other brain regions examined previously (prefrontal region and CC splenium).

  13. Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells.

    PubMed

    Luca, Giovanni; Calvitti, Mario; Mancuso, Francesca; Falabella, Giulia; Arato, Iva; Bellucci, Catia; List, Edward O; Bellezza, Enrico; Angeli, Giovanni; Lilli, Cinzia; Bodo, Maria; Becchetti, Ennio; Kopchick, John J; Cameron, Don F; Baroni, Tiziano; Calafiore, Riccardo

    2013-01-10

    Recombinant human IGF-1 currently represents the only available treatment option for the Laron Syndrome, a rare human disorder caused by defects in the gene encoding growth hormone receptor, resulting in irreversibly retarded growth. Unfortunately, this treatment therapy, poorly impacts longitudinal growth (13% in females and 19% in males), while burdening the patients with severe side effects, including hypoglycemia, in association with the unfair chore of taking multiple daily injections that cause local intense pain. In this study, we have demonstrated that a single intraperitoneal graft of microencapsulated pig Sertoli cells, producing pig insulin-like growth factor-1, successfully promoted significant proportional growth in the Laron mouse, a unique animal model of the human Laron Syndrome. These findings indicate a novel, simply, safe and successful method for the cell therapy-based cure of the Laron Syndrome, potentially applicable to humans.

  14. Reversible skeletal changes after treatment with bevacizumab in a child with cutaneovisceral angiomatosis with thrombocytopenia syndrome.

    PubMed

    Smith, Angela R; Hennessy, Jane M; Kurth, Margaret A Heisel; Nelson, Stephen C

    2008-09-01

    Cutaneovisceral angiomatosis with thrombocytopenia (CAT) syndrome is a rare vascular disorder of the skin and gastrointestinal tract for which there is no standard treatment. We present a case in which a child with CAT syndrome was treated with bevacizumab, a vascular endothelial growth factor inhibitor, and subsequently developed asymptomatic metaphyseal bone lesions. Though not previously described as a side effect, we hypothesize that the use of bevacizumab in a child with active epiphyseal growth plates caused these radiographic lesions. Because of the potential for altered bone growth and metabolism, children receiving VEGF inhibitors should be monitored closely for bony toxicity. (c) 2008 Wiley-Liss, Inc.

  15. Reversible palinopsia and the Alice in Wonderland syndrome associated with topiramate use in migraineurs.

    PubMed

    Evans, Randolph W

    2006-05-01

    Two patients are reported who developed palinopsia while taking topiramate for migraine prevention which resolved or decreased in frequency or duration on lower doses, but recurred or increased in frequency or duration on higher doses. Both patients had complete resolution of palinopsia when topiramate was discontinued. A third patient is described who developed the "Alice in Wonderland" syndrome about 1 week after starting topiramate for migraine prevention with complete resolution of symptoms about 1 month after stopping. Topiramate use may cause palinopsia and may be associated with the Alice in Wonderland syndrome through an unknown mechanism.

  16. Primary therapy for small cell lung cancer reversing the Eaton-Lambert syndrome

    SciTech Connect

    Kalter, S.; Dhingra, H.M.; Farha, P.

    1985-02-01

    A case report is presented of a patient with small cell carcinoma of the lung associated with the classic Eaton-Lambert syndrome. He received intermittent anticholinesterase therapy, with minimal improvement. Combined radiotherapy and chemotherapy for the primary neoplasm produced considerable improvement, with normal EMG findings after complete remission was achieved. 7 references, 1 table.

  17. Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome

    PubMed Central

    Dickson, Price E.; Corkill, Beau; McKimm, Eric; Miller, Mellessa M.; Calton, Michele A.; Goldowitz, Daniel; Blaha, Charles D.; Mittleman, Guy

    2013-01-01

    Fragile X syndrome (FXS) is the most common inherited form of intellectual disability in males and the most common genetic cause of autism. Although executive dysfunction is consistently found in humans with FXS, evidence of executive dysfunction in Fmr1 KO mice, a mouse model of FXS, has been inconsistent. One possible explanation for this is that executive dysfunction in Fmr1 KO mice, similar to humans with FXS, is only evident when cognitive demands are high. Using touchscreen operant conditioning chambers, male Fmr1 KO mice and their male wildtype littermates were tested on the acquisition of a pairwise visual discrimination followed by four serial reversals of the response rule. We assessed reversal learning performance under two different conditions. In the first, the correct stimulus was salient and the incorrect stimulus was non-salient. In the second and more challenging condition, the incorrect stimulus was salient and the correct stimulus was non-salient; this increased cognitive load by introducing conflict between sensory-driven (i.e., bottom-up) and task-dependent (i.e., top-down) signals. Fmr1 KOs displayed two distinct impairments relative to wildtype littermates. First, Fmr1 KOs committed significantly more learning-type errors during the second reversal stage, but only under high cognitive load. Second, during the first reversal stage, Fmr1 KOs committed significantly more attempts to collect a reward during the timeout following an incorrect response. These findings indicate that Fmr1 KO mice display executive dysfunction that, in some cases, is only evident under high cognitive load. PMID:23747611

  18. [Aneurysm of the anterior inferior cerebellar artery: case report].

    PubMed

    Adorno, Juan Oscar Alarcón; de Andrade, Guilherme Cabral

    2002-12-01

    The intracranial aneurysms of the posterior circulation have been reported between 5 and 10% of all cerebral aneurysms and the aneurysms of the anterior inferior cerebellar artery (AICA) are considered rare, can cause cerebello pontine angle (CPA) syndrome with or without subarachnoid hemorrhage. Since 1948 few cases were described in the literature. We report on a 33 year-old female patient with subarachnoid hemorrhage due to sacular aneurysm of the left AICA. She was submitted to clipage of the aneurysm without complications.

  19. Cerebellar role in fear-conditioning consolidation

    PubMed Central

    Sacchetti, Benedetto; Baldi, Elisabetta; Lorenzini, Carlo Ambrogi; Bucherelli, Corrado

    2002-01-01

    Some cerebellar structures are known to be involved in the memorization of several conditioned responses. The role of the interpositus nucleus (IN) and the vermis (VE) in fear-conditioning consolidation was investigated by means of a combined behavioral and neurophysiological technique. The IN and VE were subjected to fully reversible tetrodotoxin (TTX) inactivation during consolidation in adult male Wistar rats that underwent acoustic conditioned stimulus (CS) and context fear training. TTX was injected in different groups of rats at increasing intervals after the acquisition session. Memory was assessed as conditioned freezing duration measured during retention testing, always performed 72 and 96 h after the stereotaxic TTX administration. This schedule ensures that there is no interference with normal cerebellar function during either the acquisition or the retrieval phase so that any amnesic effect may be due only to consolidation disruption. Our results show that IN functional integrity is necessary for acoustic CS fear response memory formation up to the 96-h after-acquisition delay. VE functional integrity was shown to be necessary for memory formation of both context (up to the 96-h after-acquisition delay) and acoustic CS (up to the 192-h after-acquisition delay) fear responses. The present findings help to elucidate the role of the cerebellum in memory consolidation and better define the neural circuits involved in fear memories. PMID:12034877

  20. Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment.

    PubMed

    Gutierrez-Castellanos, Nicolas; Winkelman, Beerend H J; Tolosa-Rodriguez, Leonardo; Devenney, Benjamin; Reeves, Roger H; De Zeeuw, Chris I

    2013-09-25

    Humans with Down syndrome (DS) and Ts65Dn mice both show a reduced volume of the cerebellum due to a significant reduction in the density of granule neurons. Recently, cerebellar hypoplasia in Ts65Dn mice was rescued by a single treatment with SAG, an agonist of the Sonic hedgehog pathway, administered on the day of birth. In addition to normalizing cerebellar morphology, this treatment restored the ability to learn a spatial navigation task, which is associated with hippocampal function. It is not clear to what extent this improved performance results from restoration of the cerebellar architecture or a yet undefined role of Sonic hedgehog (Shh) in perinatal hippocampal development. The absence of a clearly demonstrated deficit in cerebellar function in trisomic mice exacerbates the problem of discerning how SAG acts to improve learning and memory. Here we show that phase reversal adaptation and consolidation of the vestibulo-ocular reflex is significantly impaired in Ts65Dn mice, providing for the first time a precise characterization of cerebellar functional deficits in this murine model of DS. However, these deficits do not benefit from the normalization of cerebellar morphology following treatment with SAG. Together with the previous observation that the synaptic properties of Purkinje cells are also unchanged by SAG treatment, this lack of improvement in a region-specific behavioral assay supports the possibility that a direct effect of Shh pathway stimulation on the hippocampus might explain the benefits of this potential approach to the improvement of cognition in DS.

  1. Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.

    PubMed

    Marji, Jackleen; O'Donoghue, Seán I; McClintock, Dayle; Satagopam, Venkata P; Schneider, Reinhard; Ratner, Desiree; Worman, Howard J; Gordon, Leslie B; Djabali, Karima

    2010-06-15

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT) within exon 11 of LMNA gene encoding A-type nuclear lamins. This mutation elicits an internal deletion of 50 amino acids in the carboxyl-terminus of prelamin A. The truncated protein, progerin, retains a farnesylated cysteine at its carboxyl terminus, a modification involved in HGPS pathogenesis. Inhibition of protein farnesylation has been shown to improve abnormal nuclear morphology and phenotype in cellular and animal models of HGPS. We analyzed global gene expression changes in fibroblasts from human subjects with HGPS and found that a lamin A-Rb signaling network is a major defective regulatory axis. Treatment of fibroblasts with a protein farnesyltransferase inhibitor reversed the gene expression defects. Our study identifies Rb as a key factor in HGPS pathogenesis and suggests that its modulation could ameliorate premature aging and possibly complications of physiological aging.

  2. [Posterior reversible encephalopathy syndrome of the midbrain and hypothalamus - a case report of uremic encephalopathy presenting with hypersomnia].

    PubMed

    Shiga, Yuji; Kanaya, Yuhei; Kono, Ryuhei; Takeshima, Shinichi; Shimoe, Yutaka; Kuriyama, Masaru

    2016-01-01

    We report the case of a 73-year-old woman presenting with hypersomnia and loss of appetite. She suffered from diabetic nephropathy without receiving dialysis, in addition to hypertension, which was well controlled without marked fluctuation. There were no objective neurological findings. Her laboratory findings showed renal failure with 3.7 mg/dl of serum creatinine and decreased serum sodium and potassium. Brain magnetic resonance imaging (MRI) showed posterior reversible encephalopathy syndrome (PRES) with vasogenic edema, which was distributed in the dorsal midbrain, medial thalamus, and hypothalamus. After we addressed the electrolyte imbalance and dehydration, her symptoms and MRI findings gradually improved, but faint high signals on MRI were still present 3 months later. Orexin in the cerebrospinal fluid was decreased on admission, but improved 6 months later. We diagnosed uremic encephalopathy with atypical form PRES showing functional disturbance of the hypothalamus.

  3. Posterior reversible encephalopathy syndrome in an untreated hypertensive patient after spinal surgery under general anesthesia -A case report-

    PubMed Central

    Yi, Ji Hwan; Ha, Sang Hee; Kim, Yong Kook

    2011-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an unfamiliar term to anesthesiologists, and this is characterized by neurologic symptoms that include mental change, headache, seizure and visual disturbance and also abnormal neuroimaging finding. A 71-year-old female patient was operated on for posterior decompression and total laminectomy under general anesthesia for the spinal stenosis. After the operation, she developed generalized tonic-clonic seizure and a stuporous mentality in the recovery room. The magnetic resonance imaging (MRI) revealed swelling and increased signal intensity at the deep gray nuclei, cerebral cortex and cerebellum. After one week, she returned to an alert mentality and then she was diagnosed with PRES. She was discharged without any neurologic deficit on postoperative day 20. This report describes our experience with PRES after spinal surgery was performed under general anesthesia on a suspected untreated hypertensive patient. PMID:21716568

  4. Reversible posterior leukoencephalopathy syndrome in a patient with severe uremic encephalopathy.

    PubMed

    Tatsumoto, N; Fujisaki, K; Nagae, H; Ono-Fujisaki, A; Kura-Nakamura, N; Taniguchi, M; Masutani, K; Tsuruya, K; Iida, M

    2010-08-01

    A 59-year-old male presented at our hospital with disturbance of consciousness. He had severe neurological disturbances associated with uremia caused by severe renal insufficiency. Cranial computed tomography (CT) was normal on admission. FLAIR-weighted MRI showed increased signal intensities bilaterally in the cortical and subcortical areas of the occipital lobe. Repeated hemodialysis resulted in improvement of the clinical symptoms and blood chemistry, and normalization of the MRI findings. Although the patient was discharged without neurological deficit, he had to be maintained on regular intermittent hemodialysis due to persistent renal failure. These reversible neuroradiological abnormalities may have been caused by reversible brain edema, but other pathoetiological factors should be also considered, such as abnormalities of cerebral metabolism and effects of uremic toxins.

  5. Clinical spectrum and critical care management of Posterior Reversible Encephalopathy Syndrome (PRES).

    PubMed

    Striano, Pasquale; Striano, Salvatore; Tortora, Fabio; De Robertis, Edoardo; Palumbo, Daniela; Elefante, Andrea; Servillo, Giuseppe

    2005-11-01

    Posterior Reversible Encephalopathy (PRES) is characterized by acute-onset headache, altered mental status, cortical blindness and seizures, with parietal-occipital involvement. We report all cases of PRES diagnosed in our intensive care unit during the last 4 years, and evaluate their outcome in terms of the different medical treatments used. Even if usually reversible, PRES can sometimes result in death or irreversible neurological deficit, such as chronic epilepsy. From January 2001 to January 2005, we identified 8 female patients with PRES. All patients underwent basal and follow-up brain MRI. Patients referred to Epilepsy Center (about 3000 patients) were reviewed in order to identify subjects with a clinical history of PRES. These latter were clinically re-evaluated and underwent video-EEG, MRI study and neuropsychological testing. Of the 8 patients, 5 had hypertensive encephalopathy during pregnancy; 2 had eclampsia during the postpartum period; 1 patient with chronic renal failure developed symptoms after immunosuppressive treatment. In all patients but 1, neurological and radiological abnormalities resolved after appropriate treatment. In addition, we found 2 patients with temporal lobe epilepsy subsequent to a previous PRES. MRI revealed cortical-subcortical malacia in the parietal-occipital regions. The widespread use of MRI technology has made PRES familiar to many clinicians. Although PRES is reversible when treatment is instituted, delayed diagnosis and therapy can result in chronic neurological sequelae. The relationship between hypertensive encephalopathy and chronic epilepsy needs to be confirmed by longitudinal studies. Normalization of blood pressure and treatment of seizures deserves particular attention.

  6. Association of Posterior Reversible Encephalopathy Syndrome and Transient Apical Ballooning Syndrome (Takotsubo): First Case Report of a Man and Review of the Literature.

    PubMed

    Grimaldi, Stephan; Doche, Emilie; Rey, Caroline; Laksiri, Nadia; Boussen, Salah; Quilici, Jacques; Robinet, Emmanuelle; Devemy, Fabien; Pelletier, Jean

    2017-01-01

    An association of posterior reversible encephalopathy syndrome (PRES) and takotsubo is rare. We present the first case of a male patient. A 69-year-old man presented to the hospital in a persistent comatose state following a generalized tonic-clonic seizure with high blood pressure. The electrocardiogram revealed transient left bundle branch block. Troponin and BNP were elevated. Cardiac ultrasound showed large apical akinesia with altered left ventricular ejection fraction, and the left ventriculogram showed characteristic regional wall motion abnormalities involving the mid and apical segments. Brain MRI showed bilateral, cortical, and subcortical vasogenic edema predominant in the posterior right hemisphere. The lumbar puncture and cerebral angiography were normal. Paraclinical abnormalities were reversible within 2 weeks with a clinical recovery in 3 months, confirming the takotsubo and the PRES diagnoses. Several theories hypothesize the underlying pathophysiology of takotsubo or PRES. Circulating catecholamines are up to 3 times higher in patients with takotsubo causing impaired microcirculation and apical hypokinesia. An association of both takotsubo and asthma crisis and PRES and asthma crisis underlines the role of catecholamines in the occurrence of these disorders. Early recognition of this rare association, in which heart and neurological damage may require rapid intensive care support, is needed.

  7. Adipocyte Dynamics and Reversible Metabolic Syndrome in Mice with an Inducible Adipocyte-Specific Deletion of the Insulin Receptor.

    PubMed

    Sakaguchi, Masaji; Fujisaka, Shiho; Cai, Weikang; Winnay, Jonathon N; Konishi, Masahiro; O'Neill, Brian T; Li, Mengyao; García-Martín, Rubén; Takahashi, Hirokazu; Hu, Jiang; Kulkarni, Rohit N; Kahn, C Ronald

    2017-02-07

    Insulin and IGF1 signaling are important for adipose tissue development and function; however, their role in mature adipocytes is unclear. Mice with a tamoxifen-inducible knockout of insulin and/or IGF1 receptors (IR/IGF1R) demonstrate a rapid loss of white and brown fat due to increased lipolysis and adipocyte apoptosis. This results in insulin resistance, glucose intolerance, hepatosteatosis, islet hyperplasia with hyperinsulinemia, and cold intolerance. This phenotype, however, resolves over 10-30 days due to a proliferation of preadipocytes and rapid regeneration of both brown and white adipocytes as identified by mTmG lineage tracing. This cycle can be repeated with a second round of receptor inactivation. Leptin administration prior to tamoxifen treatment blocks development of the metabolic syndrome without affecting adipocyte loss or regeneration. Thus, IR is critical in adipocyte maintenance, and this loss of adipose tissue stimulates regeneration of brown/white fat and reversal of metabolic syndrome associated with fat loss. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

    PubMed

    Langwińska-Wośko, Ewa; Broniek-Kowalik, Karina; Szulborski, Kamil

    2012-04-01

    Wolfram syndrome (WFS), or DIDMOAD, is a rare (1/100 000 to 1/770 000), progressive neurodegenerative disorder. In its early stages, it is characterized by insulin-dependent diabetes mellitus, optic atrophy and loss of sensorineural hearing-this is followed by diabetes insipidus, progressive neurological abnormalities and other endocrine abnormalities, which occur in later years. The aim of this study was to report on the clinical and electrophysiological findings from a family with the WFS1 mutation. The five family members were subjected to a complete ophthalmic examination, which included a flash full-field electroretinogram and pattern-reversal visual evoked potentials (PVEPs) performed according to ISCEV standards. Optic atrophy was confirmed in two homozygotic patients, where P100 latencies were significantly delayed-up to 146 ms in PVEP. P100 latencies were normal in the three heterozygotic patients we examined. Curve morphology abnormalities were observed in all five patients we examined. No literature describing the morphology of PVEP in Wolfram syndrome patients was found. In flash electroretinography, scotopic and photopic responses appeared in normal morphology and value. Diabetic retinopathy was not observed in the diabetes mellitus patients.

  9. [Reversible cerebral vasoconstriction syndrome with cortical subarachnoid hemorrhage presenting as thunderclap headache-a long followed up case].

    PubMed

    Ogura, Aya; Suzuki, Junichiro; Imai, Kazunori; Nishida, Suguru; Kato, Takashi; Yasuda, Takeshi; Ito, Yasuhiro

    2013-01-01

    A 59-year-old woman presented with thunderclap headache. Cranial CT showed cortical subarachnoid hemorrhage (cSAH) at the right parietal lobe and cerebral angiography on day 5 revealed multiple cerebral arterial constriction, diagnosed as reversible cerebral vasoconstriction syndrome (RCVS). We could not detect vasoconstriction in MRA at the first examination on day 4, and vasoconstrictive finding appeared around Willis circle 8 days later. There was a temporal difference in a cephalalgic symptom and vasoconstrictive appearance. Clinical symptoms completely recovered and head CT, MRI/MRA findings were reversible after two months, reflecting a rather good RCVS outcome. However, we also followed up this case precisely using single photon emission computed tomography (SPECT) with easy Z-score imaging system (e-ZIS), and hypoperfusion at the locus of cSAH persisted for more than one year. This finding strongly suggests that tissue damage in the cSAH locus induced by RCVS may be subclinicaly irreversible, even though clinical symptoms and abnormalities in cranial MRI and MRA completely recover.SPECT may be a high sensitive technique to detect the irreversible lesion in RCVS.

  10. Caytaxin deficiency disrupts signaling pathways in cerebellar cortex.

    PubMed

    Xiao, J; Gong, S; Ledoux, M S

    2007-01-19

    The genetically dystonic (dt) rat, an autosomal recessive model of generalized dystonia, harbors an insertional mutation in Atcay. As a result, dt rats are deficient in Atcay transcript and the neuronally-restricted protein caytaxin. Previous electrophysiological and biochemical studies have defined olivocerebellar pathways, particularly the climbing fiber projection to Purkinje cells, as sites of significant functional abnormality in dt rats. In normal rats, Atcay transcript is abundantly expressed in the granular and Purkinje cell layers of cerebellar cortex. To better understand the consequences of caytaxin deficiency in cerebellar cortex, differential gene expression was examined in dt rats and their normal littermates. Data from oligonucleotide microarrays and quantitative real-time reverse transcriptase-PCR (QRT-PCR) identified phosphatidylinositol signaling pathways, calcium homeostasis, and extracellular matrix interactions as domains of cellular dysfunction in dt rats. In dt rats, genes encoding the corticotropin-releasing hormone receptor 1 (CRH-R1, Crhr1) and plasma membrane calcium-dependent ATPase 4 (PMCA4, Atp2b4) showed the greatest up-regulation with QRT-PCR. Immunocytochemical experiments demonstrated that CRH-R1, CRH, and PMCA4 were up-regulated in cerebellar cortex of mutant rats. Along with previous electrophysiological and pharmacological studies, our data indicate that caytaxin plays a critical role in the molecular response of Purkinje cells to climbing fiber input. Caytaxin may also contribute to maturational events in cerebellar cortex.

  11. Transcranial magnetic stimulation in patients with cerebellar stroke.

    PubMed

    Cruz-Martínez, A; Arpa, J

    1997-01-01

    Conduction time of the central motor pathways (CMCT) by transcranial magnetic stimulation (TMS) was performed within the first two weeks in 7 patients with isolated hemicerebellar lesions after stroke. Cerebellar infarcts were small (< 2 cm in diameter) in 5 patients and no brainstem structure was involved in CT studies. The threshold (3 cases) and CMCT (4 cases) were abnormal or asymmetric by stimulation of the motor cortex contralateral to the impaired hemicerebellum. The follow-up study in 2 patients revealed electrophysiological improvement closely related to clinical cerebellar recovery rate. CMCT was significantly longer by cortex stimulation contralateral to the impaired hemicerebellum than by ipsilateral stimulation. Prolonged CMCT was significantly correlated with the rated severity of cerebellar signs. Increased threshold may be due to depressed facilitating action of the deep cerebellar nuclei on contralateral motor cortex. Abnormal CMCT might result in reduced size and increased dispersion of the efferent volleys. Recovery of electrophysiological results could represent in part true potentially reversible functional deficit. Whichever the pathophysiological mechanisms involved, our results demonstrate that the cerebellum dysfunction plays a role in the abnormalities of CMCT elicited by TMS.

  12. Posterior SMA Syndrome following subcortical stroke: contralateral akinesia reversed by visual feedback.

    PubMed

    Radman, Narges; Cacioppo, Stephanie; Spierer, Lucas; Schmidlin, Eric; Mayer, Eugène; Annoni, Jean-Marie

    2013-11-01

    The supplementary motor area (SMA) plays a key role in motor programming and production and is involved in internally-cued movements. In neurological populations, SMA syndrome following a lesion to the "SMA proper" is characterized by transient impairment of voluntary movements and motor sequences. This syndrome is assumed to follow on from an interruption of the motor cortico-subcortical loop, and some case reports indicate that such a syndrome could occur after a brain lesion isolating the SMA from subcortical structures. To characterize the pattern of motor impairments in a patient whose stroke disconnects the SMA from the subcortical motor loop. A patient developed a moderate transient left hemiparesis following a subcortical stroke in the right anterior cerebral artery area, which disconnected the SMA from basal ganglia. Eight days after the stroke, when the hemiparesis had regressed, the patient presented a specific SMA motor disorder of the left hand which manifested as an akinesia and was exacerbated when his visual attention was not directed towards his hand. We assessed finger tapping with left and right hands, eyes closed and open, in the left and right hemispace. We indexed movement speed as the number of taps filmed over 5-s periods. Left motor weakness (grasping strength of right hand: 49 kg and left hand: 41 kg) was resolved in a week. Ideomotor and ideational gestures and motor sequences were preserved. On the tapping task, left-hand tapping was slower than right-hand tapping. Critically, visual feedback improved tapping speed for the left, but not for the right, hand. The hemispace of the task execution had no effect on tapping performance. Our results suggest that SMA-basal ganglia disconnection decreases contralateral movement initiation and maintenance and this effect is partly compensated by visual cues. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Cerebellar mutism in children: report of six cases and potential mechanisms.

    PubMed

    Koh, S; Turkel, S B; Baram, T Z

    1997-04-01

    Cerebellar mutism is a rare finding associated with resection of posterior fossa tumors or cerebellar hemorrhages. We reviewed the medical records of six children, aged 6 to 12 years, who developed cerebellar mutism after resection of a posterior fossa mass or as a result of posterior fossa trauma. From 1989 to 1994, 210 children underwent posterior fossa resection at our institution, and four developed mutism (an incidence of 1.6%). All four patients had primitive neuroectodermal tumors. The fifth patient experienced trauma, and another patient had an arteriovenous malformation (AVM). In four children, hydrocephalus developed as a result of their tumor or AVM. Four developed cerebellar mutism 24 to 48 hours after surgery or trauma, and one developed cerebellar mutism 5 days after surgery, coincident with hydrocephalus. In one, mutism occurred after a second resection was performed for a recurrence of his posterior fossa tumor. Cerebellar mutism lasted 10 days in one patient and 2 to 8 weeks in the other four. Dysarthria was apparent in four patients during the recovery phase. We suggest trauma to the dentate nucleus and/or its outflow tract, the superior cerebellar peduncle, as a cause of reversible mutism. Because posterior fossa tumors are common in children, mutism should be recognized as an important side effect of surgery.

  14. Cerebellar Mutism in Children: Report of Six Cases and Potential Mechanisms

    PubMed Central

    Koh, Susan; Turkel, Susan Beckwitt; Baram, Tallie Z.

    2012-01-01

    Cerebellar mutism is a rare finding associated with resection of posterior fossa tumors or cerebellar hemorrhages. We reviewed the medical records of six children, aged 6 to 12 years, who developed cerebellar mutism after resection of a posterior fossa mass or as a result of posterior fossa trauma. From 1989 to 1994, 210 children underwent posterior fossa resection at our institution, and four developed mutism (an incidence of 1.6%). All four patients had primitive neuroectodermal tumors. The fifth patient experienced trauma, and another patient had an arteriovenous malformation (AVM). In four children, hydrocephalus developed as a result of their tumor or AVM. Four developed cerebellar mutism 24 to 48 hours after surgery or trauma, and one developed cerebellar mutism 5 days after surgery, coincident with hydrocephalus. In one, mutism occurred after a second resection was performed for a recurrence of his posterior fossa tumor. Cerebellar mutism lasted 10 days in one patient and 2 to 8 weeks in the other four. Dysarthria was apparent in four patients during the recovery phase. We suggest trauma to the dentate nucleus and/or its outflow tract, the superior cerebellar peduncle, as a cause of reversible mutism. Because posterior fossa tumors are common in children, mutism should be recognized as an important side effect of surgery. PMID:9165512

  15. Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.

    PubMed

    Kameda, Tomoaki; Namekawa, Michito; Shimazaki, Haruo; Minakata, Daisuke; Matsuura, Tohru; Nakano, Imaharu

    2014-11-01

    Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and reversible cerebral vasoconstriction on angiographic findings. It can be difficult to diagnose when initial angiography is normal. A 30-year-old woman was admitted because of sudden-onset thunderclap headache and seizure on postpartum day 7. Brain MRI on fluid-attenuated inversion recovery (FLAIR) showed hyperintense vessel sign (HVS), which usually means slow flow due to severe proximal arterial stenosis. However, magnetic resonance angiography (MRA) indicated that proximal arteries was normal. After nicardipine treatment, her symptoms improved dramatically. Follow-up FLAIR on day 7 showed complete resolution of HVS, while a series of MRAs revealed reversible multifocal segmental vasoconstriction. HVS on initial FLAIR is useful for an early diagnosis of reversible cerebral vasoconstriction syndrome. As the delayed vasoconstriction on MRA can be observed, reversible cerebral vasoconstriction syndrome may progress from distal small to proximal larger arteries. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  16. Brief Report: The Association between Autism and Fragile X Syndrome: A Case Report.

    ERIC Educational Resources Information Center

    Lenti, Carlo

    1995-01-01

    This article presents a case report of a male child with Fragile X syndrome, typical autistic behavior, and cerebellar hypoplasia. Questions are raised concerning the possible role and importance of cerebellar abnormalities in relation to autistic symptoms. (DB)

  17. Alcohol Withdrawal and Cerebellar Mitochondria.

    PubMed

    Jung, Marianna E

    2015-08-01

    Cerebellar disorders trigger the symptoms of movement problems, imbalance, incoordination, and frequent fall. Cerebellar disorders are shown in various CNS illnesses including a drinking disorder called alcoholism. Alcoholism is manifested as an inability to control drinking in spite of adverse consequences. Human and animal studies have shown that cerebellar symptoms persist even after complete abstinence from drinking. In particular, the abrupt termination (ethanol withdrawal) of long-term excessive ethanol consumption has shown to provoke a variety of neuronal and mitochondrial damage to the cerebellum. Upon ethanol withdrawal, excitatory neurotransmitter molecules such as glutamate are overly released in brain areas including cerebellum. This is particularly relevant to the cerebellar neuronal network as glutamate signals are projected to Purkinje neurons through granular cells that are the most populated neuronal type in CNS. This excitatory neuronal signal may be elevated by ethanol withdrawal stress, which promotes an increase in intracellular Ca(2+) level and a decrease in a Ca(2+)-binding protein, both of which result in the excessive entry of Ca(2+) to the mitochondria. Subsequently, mitochondria undergo a prolonged opening of mitochondrial permeability transition pore and the overproduction of harmful free radicals, impeding adenosine triphosphate (ATP)-generating function. This in turn provokes the leakage of mitochondrial molecule cytochrome c to the cytosol, which triggers a cascade of adverse cytosol reactions. Upstream to this pathway, cerebellum under the condition of ethanol withdrawal has shown aberrant gene modifications through altered DNA methylation, histone acetylation, or microRNA expression. Interplay between these events and molecules may result in functional damage to cerebellar mitochondria and consequent neuronal degeneration, thereby contributing to motoric deficit. Mitochondria-targeting research may help develop a powerful new

  18. rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest.

    PubMed Central

    Stewart, E; Chapman, C R; Al-Khodairy, F; Carr, A M; Enoch, T

    1997-01-01

    In eukaryotic cells, S phase can be reversibly arrested by drugs that inhibit DNA synthesis or DNA damage. Here we show that recovery from such treatments is under genetic control and is defective in fission yeast rqh1 mutants. rqh1+, previously known as hus2+, encodes a putative DNA helicase related to the Escherichia coli RecQ helicase, with particular homology to the gene products of the human BLM and WRN genes and the Saccharomyces cerevisiae SGS1 gene. BLM and WRN are mutated in patients with Bloom's syndrome and Werner's syndrome respectively. Both syndromes are associated with genomic instability and cancer susceptibility. We show that, like BLM and SGS1, rqh1+ is required to prevent recombination and that in fission yeast suppression of inappropriate recombination is essential for reversible S phase arrest. PMID:9184215

  19. The pusher syndrome reverses the orienting bias caused by spatial neglect.

    PubMed

    Honoré, Jacques; Saj, Arnaud; Bernati, Thérèse; Rousseaux, Marc

    2009-02-01

    Spatial neglect can be accompanied by a pusher syndrome (PS) which is characterized by a postural deviation towards the contralesional side. In this study, the representation of the body orientation in the horizontal plane was evaluated in neglect patients with and without PS. The participants had to align a luminous rod with the straight ahead direction, a method allowing the measure of both horizontal components of subjective straight ahead, i.e. lateral shift and yaw rotation. Eighteen patients with a lesion of the right hemisphere were compared with ten healthy participants. Patients had neglect and PS (P+N+; n=3), neglect only (P-N+; n=10), or neither neglect nor PS (P-N-; n=5). P+N+ patients showed a significant leftward shift contrasting with the rightward shift of P-N+. No shift occurred in patients without neglect and controls. No significant yaw error was recorded in any groups. The original result of this study was an inversion of the sign of the bias in neglect patients with PS. This could be related to the postural disorders characterizing this syndrome, and which are opposite to those usually observed in spatial neglect. Thus, these data suggest a link between disorders of spatial representations and disorders of posture.

  20. Reversible Myocarditis and Pericarditis after Black Widow Spider Bite or Kounis Syndrome?

    PubMed

    Yaman, Mehmet; Mete, Turkan; Ozer, Ismail; Yaman, Elif; Beton, Osman

    2015-01-01

    Clinical manifestation of black widow spider bite is variable and occasionally leads to death in rural areas. Cases of myocarditis and pericarditis after black widow spider bite are rare and the associated prognostic significance is unknown. Kounis syndrome has been defined as an acute coronary syndrome in the setting of allergic or hypersensitivity and anaphylactic or anaphylactoid insults that manifests as vasospastic angina or acute myocardial infarction or stent thrombosis. Allergic myocarditis is caused by myocardial inflammation triggered by infectious pathogens, toxic, ischemic, or mechanical injuries, such as drug-related inflammation and other immune reactions. A 15-year-old child was admitted to the emergency department with pulmonary edema after spider bite. ST segment depression on ECG, elevated cardiac enzymes and global left ventricular hypokinesia (with ejection fraction of 22%), and local pericardial effusion findings confirmed the diagnosis of myopericarditis. After heart failure and pulmonary edema oriented medical therapy, clinical status improved. Patient showed a progressive improvement and LV functions returned to normal on the sixth day. Myopericarditis complicating spider bite is rare and sometimes fatal. The mechanism is not clearly known. Alpha-latrotoxin of the black widow spider is mostly convicted in these cases. But allergy or hypersensitivity may play a role in myocardial damage.

  1. High-resolution MRI vessel wall imaging: spatial and temporal patterns of reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

    PubMed

    Obusez, E C; Hui, F; Hajj-Ali, R A; Cerejo, R; Calabrese, L H; Hammad, T; Jones, S E

    2014-08-01

    High-resolution MR imaging is an emerging tool for evaluating intracranial artery disease. It has an advantage of defining vessel wall characteristics of intracranial vascular diseases. We investigated high-resolution MR imaging arterial wall characteristics of CNS vasculitis and reversible cerebral vasoconstriction syndrome to determine wall pattern changes during a follow-up period. We retrospectively reviewed 3T-high-resolution MR imaging vessel wall studies performed on 26 patients with a confirmed diagnosis of CNS vasculitis and reversible cerebral vasoconstriction syndrome during a follow-up period. Vessel wall imaging protocol included black-blood contrast-enhanced T1-weighted sequences with fat suppression and a saturation band, and time-of-flight MRA of the circle of Willis. Vessel wall characteristics including enhancement, wall thickening, and lumen narrowing were collected. Thirteen patients with CNS vasculitis and 13 patients with reversible cerebral vasoconstriction syndrome were included. In the CNS vasculitis group, 9 patients showed smooth, concentric wall enhancement and thickening; 3 patients had smooth, eccentric wall enhancement and thickening; and 1 patient was without wall enhancement and thickening. Six of 13 patients had follow-up imaging; 4 patients showed stable smooth, concentric enhancement and thickening; and 2 patients had resoluton of initial imaging findings. In the reversible cerebral vasoconstriction syndrome group, 10 patients showed diffuse, uniform wall thickening with negligible-to-mild enhancement. Nine patients had follow-up imaging, with 8 patients showing complete resolution of the initial findings. Postgadolinium 3T-high-resolution MR imaging appears to be a feasible tool in differentiating vessel wall patterns of CNS vasculitis and reversible cerebral vasoconstriction syndrome changes during a follow-up period. © 2014 by American Journal of Neuroradiology.

  2. A case of midbrain infarction with acute bilateral cerebellar ataxia visualized by diffusion tensor imaging.

    PubMed

    Maya, Yuka; Kawabori, Masahito; Oura, Daisuke; Niiya, Yoshimasa; Iwasaki, Motoyuki; Mabuchi, Shoji

    2016-08-31

    An 85-year-old woman with hypertension was admitted with a sudden onset of gait disturbance and dysarthria. On admission, the patient showed severe bilateral cerebellar ataxia with moderate right medial longitudinal fasciculus (MLF) syndrome. Magnetic resonance (MR) imaging showed an acute infarction in the lower and medial part of midbrain. Diffusion tensor imaging (DTI) started from both cerebellar peduncles revealed that the lesion of the acute infarction matched the decussation of superior cerebellar peduncle where crossing of tract was seen and a part of its tract was interrupted at the site. Interruption of the cerebellum red nuclear path at the medial part of midbrain was considered to be the reason for bilateral cerebellar ataxia and visualization of cerebellum red nuclear path by DTI can give better understanding of the neurological symptom.

  3. Reversible obstructive hydrocephalus from hypertensive encephalopathy.

    PubMed

    Kumar, Abhay; Keyrouz, Salah G; Willie, Jon T; Dhar, Rajat

    2012-06-01

    Diffuse edema involving the posterior fossa may be seen with hypertensive encephalopathy and has rarely been reported to cause hydrocephalus. We present three such cases and review the literature to better delineate this uniquely reversible syndrome. Case reports and review of literature. Three patients with hypertensive encephalopathy presented to our institutions with clinical and radiographic features of obstructive hydrocephalus associated with brainstem and cerebellar edema. This required transient external drainage of cerebrospinal fluid (CSF) in two of the three patients. However, with recognition of this unusual syndrome and aggressive management of elevated blood pressure, both edema and hydrocephalus resolved. All patients made complete recoveries and did not require permanent CSF shunting. A review of the literature yielded 15 additional case reports describing reversible obstructive hydrocephalus related to hypertensive encephalopathy. All had mean arterial pressures above 130 mmHg and presented primarily with altered mental status. While half required ventriculostomy, only one required shunting. Excluding a patient who died from sepsis, all recovered neurologically once blood pressure was controlled. It is imperative to recognize such cases where hypertension causes edema within the posterior fossa resulting in secondary hydrocephalus. Focusing management on lowering blood pressure avoids unnecessary or prolonged CSF diversion.

  4. Decreased cerebellar blood flow in postinfectious acute cerebellar ataxia

    PubMed Central

    Nagamitsu, S.; Matsuishi, T.; Ishibashi, M.; Yamashita, Y.; Nishimi, T.; Ichikawa, K.; Yamanishi, K.; Kato, H.

    1999-01-01

    OBJECTIVE—The aim of the present study was to evaluate the regional cerebral blood flow (rCBF) in patients with postinfectious acute cerebellar ataxia using single photon emission computed tomography (SPECT).
METHODS—Five children with postinfectious acute cerebellar ataxia and five control subjects were examined. The distribution of rCBF was measured by SPECT imaging after intravenous administration of 123I-IMP (111 MBq). The rCBF ratio—defined as the ratio of rCBF in the region of interest (ROI) to that in the occipital cortex—was calculated for each cortical and subcortical ROI. The mean rCBF ratio of each region was then compared between the ataxic and control subjects. These patients and all control subjects were also evaluated using MRI.
RESULTS—The rCBF ratio was significantly lower in the cerebellum of the ataxic patients than in the cerebellum of the control subjects (p<0.05). No abnormal cerebellar morphology and no abnormal signal intensities were found on MRI.
CONCLUSION—123I-IMP SPECT clearly demonstrated the decreased rCBF in the cerebellum of all patients with postinfectious acute cerebellar ataxia.

 PMID:10369834

  5. Rituximab as potential therapy for paraneoplastic cerebellar degeneration in pediatric Hodgkin disease.

    PubMed

    Yeo, Kee Kiat; Walter, Andrew W; Miller, Robin E; Dalmau, Josep

    2012-06-01

    Paraneoplastic cerebellar degeneration (PCD) is a rare neurological syndrome associated with lung cancer, breast adenocarcinoma,ovarian adenocarcinoma, and Hodgkin disease. It is rarely seen in pediatrics. We report a case of a 10-year-old boy with a 2-year prodrome that led to a diagnosis of PCD in association with stage IV Hodgkin disease. He received radiation and chemotherapy for his Hodgkin disease with resolution of his lymphoma. Based on promising data in adults on the efficacy of rituximab over other immuno suppressive agents in paraneoplastic disorders, he was treated with rituximab with marked improvement of the cerebellar syndrome.

  6. Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

    PubMed

    Rezazadeh, Saman; Guo, Jiqing; Duff, Henry J; Ferrier, Raechel A; Gerull, Brenda

    2016-12-01

    Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function. We conclude that DCM is likely a secondary phenotype in ATS and is caused by high ventricular arrhythmia burden.

  7. Posterior leukoencephalopathy syndrome as a cause of reversible blindness during pregnancy.

    PubMed

    Onderoglu, Lutfu S; Dursun, Polat; Gultekin, Murat; Celik, Nilufer Y

    2007-08-01

    Cortical blindness is a rare and dramatic complication of pre-eclampsia. The precise nature of the pathogenesis of this condition has not previously been understood. Three preeclamptic patients with unremarkable previous medical history presented with acute blindness between the 28th and 33rd weeks of pregnancy. They were all diagnosed as posterior leukoencephalopathy syndrome (PLES). In all these patients, MRI study revealed the typical feature of gray-white matter edema localized to the temporo-parieto-occipital areas. Vision and MRI findings were restored in all patients after delivery. Although PLES has been described as a puerperal clinicoradiologic entity, it may be seen in preeclamptic-eclamptic patients during the pregnancy. Therefore neuro-imaging studies should be carried out in pregnant patients with visual disturbances in order to exclude PLES. Prompt diagnosis, immediate control of blood pressure, and elimination of possible causes resolves clinical and imaging findings.