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1

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis  

Microsoft Academic Search

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and\\/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary

Ensar Yekeler; Meral Ozmen; Hakan Genchellac; Memduh Dursun; Gulden Acunas

2004-01-01

2

Congenital bilateral perisylvian syndrome: first report in a Japanese patient.  

PubMed

A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills. PMID:8914634

Hattori, H; Higuchi, Y; Maihara, T; Jung, E Y; Furusho, K; Asato, R

1996-03-01

3

Congenital bilateral perisylvian syndrome: First report in a Japanese patient  

Microsoft Academic Search

Summary A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain, disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills.

Haruo Hattori; Yoshihisa Higuchi; Toshiro Maihara; Eun-Young Jung; Kenshi Furusho; Reinin Asato

1996-01-01

4

Infantile spasms: an early epileptic manifestation in some patients with the congenital bilateral perisylvian syndrome.  

PubMed

We report four patients with infantile spasms and the congenital bilateral perisylvian syndrome. Onset of spasms occurred during the first 6 months of life. Response to corticotropin treatment was prompt and resulted in resolution of seizures in all patients. Epilepsy developed in the four children after an interval of 2 to 12 years. Developmental outcome was variable; three were severely restricted and one was married and lived independently. Imaging studies revealed bilateral perisylvian lesions characteristic of polymicrogyria. Infantile spasms may be the presenting seizure type in some patients with the congenital bilateral perisylvian syndrome. PMID:7822736

Kuzniecky, R; Andermann, F; Guerrini, R

1994-10-01

5

Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up  

Microsoft Academic Search

Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis

Margari Lucia; Presicci Anna; Ventura Patrizia; Buttiglione Maura; Andreula Cosma; Perniola Tommaso

2005-01-01

6

Nonconvulsive status epilepticus in a child with congenital bilateral perisylvian syndrome.  

PubMed

A 9-year-old male with congenital bilateral perisylvian syndrome is described. He had pseudobulbar palsy, mental retardation, and intractable epilepsy. Computed tomography and magnetic resonance images of the brain demonstrated bilateral perisylvian malformations and a diffuse pachygyric appearance. At 8 years of age, he had episodes of excessive drooling, fluctuating impairment of consciousness, unsteady sitting, and frequent head drop that lasted several days. The electroencephalogram demonstrated continuous diffuse slow spike and waves. These findings suggested atypical absence status epilepticus. Intravenous administration of diazepam resulted in transient improvement of clinical and electroencephalographic findings. Status epilepticus recurred within several minutes after diazepam administration. Although no patient has been reported to have a history of status epilepticus among those affected by this syndrome, it seems that atypical absence status can occur more frequently than expected, as seen in Lennox-Gastaut syndrome. After recognition and confirmation of nonconvulsive status epilepticus, immediate treatment must be attempted. PMID:10465149

Tagawa, T; Itagaki, Y; Kobayashi, M; Sano, T; Sumi, K

1999-08-01

7

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.  

PubMed

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity. PMID:9309709

Gropman, A L; Barkovich, A J; Vezina, L G; Conry, J A; Dubovsky, E C; Packer, R J

1997-08-01

8

Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study.  

PubMed

Advances in neuroimaging techniques have enabled the recognition of developmental malformations of the brain during life. Careful correlation of clinical and imaging features has identified several new syndromes. We have studied 31 patients with a congenital neurological syndrome characterised by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian abnormalities on imaging studies. All patients had diplegia of the facial pharyngeal, and masticatory muscles, of variable severity. Some patients had slight dysarthria, whereas others were unable to speak. 85% of patients had mental retardation, ranging from mild to severe. Epilepsy was present in 27 (87%) and commonly consisted of atypical absence, atonic/tonic, tonic-clonic seizures, and, less frequently, partial attacks. Seizures were poorly controlled in 55%. Magnetic resonance imaging showed bilateral perisylvian cortical malformations consistent with polymicrogyria, confirmed at necropsy. Division of the corpus callosum in several patients resulted in seizure improvement. This congenital bilateral perisylvian syndrome can be clinically diagnosed and confirmed by imaging studies. Further studies are necessary to elucidate its cause. PMID:8094839

Kuzniecky, R; Andermann, F; Guerrini, R

1993-03-01

9

Congenital bilateral perisylvian syndrome: analysis of the first four reported Korean patients.  

PubMed

The advent of MRI technique has enabled the diagnosis of neuronal migration disorders(NMD) and made it possible to make "in vivo" diagnosis. Congenital bilateral perisylvian syndrome(CBPS) is a recently described disease identify characterized by pseudobulbar palsy, epilepsy, mental retardation, and migration disorders in the bilateral perisylvian area. We have identified four CBPS patients based on neuroimaging and dysarthria patterns among the candidates for epilepsy surgery. All the patients had orofacial diplegia and variable degrees of mental retardation. In the spectrographic analysis of dysarthria, the loss of specific characteristics of formants of vowels and increment of noise in the high frequency formants were observed. Epilepsy was present in all, but only one patient showed intractable seizure requiring surgical intervention. MRI was most helpful in identifying NMD and polymicrogyria in both centroparietal areas in this context. Great alertness is needed to identify this disorder to determine the etiology of epilepsy and dysarthria of uncertain origin. PMID:7848582

Kim, H I; Palmini, A; Choi, H Y; Kim, Y H; Lee, J C

1994-08-01

10

Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up.  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature. PMID:15626542

Margari, Lucia; Lucia, Margari; Presicci, Anna; Anna, Presicci; Ventura, Patrizia; Patrizia, Ventura; Buttiglione, Maura; Maura, Buttiglione; Andreula, Cosma; Cosma, Andreula; Perniola, Tommaso; Tommaso, Perniola

2005-01-01

11

Voxel-based morphometry and intellectual assessment in patients with congenital bilateral perisylvian syndrome.  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) presents with heterogeneous clinical manifestations such as pseudobulbar palsy, language disorder, variable cognitive deficits, epilepsy, and perisylvian abnormalities (most frequently polymicrogyria) on imaging studies. We investigated the relationship between seizures and extent of gray matter (GM) and white matter (WM) abnormalities using voxel-based morphometry (VBM) of brain magnetic resonance imaging (MRI) as well the association between seizures, structural abnormalities and cognitive ability. In this cross-sectional study, we evaluated 51 healthy volunteers and 18 patients with CBPS with epilepsy (seizure group, n = 7) and without (non-seizure group, n = 11). We used VBM (SPM8/DARTEL) to investigate areas with excess and atrophy of both gray and white matter, comparing groups of patients with controls. Intellectual ability of patients was assessed by the WISC-III or WAIS-III. Both groups with CBPS and the control group were homogeneous with respect to gender (p = 0.07) and age (p = 0.065). Besides perisylvian polymicrogyria, the seizure group exhibited areas with GM and WM reduction including temporal, frontal, parietal and occipital lobes. In contrast, we identified fewer areas with GM and WM reduction in the non-seizure group. The seizure group presented worse intellectual performance (performance IQ and global IQ) than the non-seizure group. The seizure group presented with a more widespread pattern of cortical and sub-cortical abnormalities, as well as worse cognition. Our results suggest that patients with CBPS and epilepsy appear to have widespread neuronal damage that goes beyond the areas with MRI-visible perisylvian polymicrogyria. PMID:24781839

Yasuda, Clarissa L; Guimarăes, Catarina A; Guerreiro, Marilisa M; Boscariol, Mirela; Oliveira, Ecila P M; Teixeira, Karine C; Costa, André L F; Beltramini, Guilherme C; Cendes, Fernando

2014-07-01

12

The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study.  

PubMed

We studied the frequency, clinical and EEG characteristics, and outcome of the epileptic syndrome in 31 patients with a congenital neurologic syndrome characterized by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian polymicrogyria. Seizures were present in 27 of 31 patients (87%) and usually began between the ages of 4 and 12 years; they commonly consisted of atypical absence, atonic/tonic, and generalized tonic-clonic seizures. Partial attacks were present in 26%. EEG demonstrated generalized spike and wave abnormalities and, less frequently, multifocal discharges, predominantly in centro-parietal regions. Seizures were poorly controlled in 65%, with the remaining patients well controlled. Seven patients underwent callosotomy, which resulted in seizure improvement. This study indicates that the epileptic spectrum in this syndrome is broad but follows predictable patterns. Callosotomy is a valuable treatment strategy in those with intractable drop attacks. PMID:8145902

Kuzniecky, R; Andermann, F; Guerrini, R

1994-03-01

13

Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures  

Microsoft Academic Search

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared.

Ambrosetto G. I; L. Antonini

1995-01-01

14

Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures.  

PubMed

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls. PMID:8537219

Ambrosetto, G; Antonini, L

1995-06-01

15

Anterior corpus callosotomy combined with anterior temporal resection with amygdalohippocampectomy: outcome in a patient with congenital bilateral perisylvian syndrome.  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is characterized by epilepsy, cognitive deficits, pseudobulbar palsy and diplegia of the facial, pharyngeal and masticatory muscles. Epilepsy has been described in nearly 90% of affected patients. The epilepsy is usually severe and pharmacoresistant in about 55 percent of CBPS patients. Until now, only 12 cases of surgical treatment on CBPS have been reported; the surgical treatment is usually corpus callosotomy. In this paper, we describe a previously unreported combination of anterior corpus callosotomy plus anterior temporal lobectomy with amygdalohippocampectomy for a patient with CBPS, resulting in a satisfactory clinical outcome. Based on this case, we suggest that palliative focal resective surgery combined with anterior corpus callosotomy should be considered when a predominance of the epileptiform discharges suggests focal onset in patients with CBPS. Meanwhile, the clinical decision to adopt this combination surgery must be based on a thorough pre-surgical evaluation, and should take into account the clinical, radiological, and EEG features. PMID:24535795

Junming, Zhu; Yuanyuan, Zhao; Fang, Feng; Weiming, Fu; Ryan, Hays; Jianmin, Zhang; Li, Feng; Xiao, Jin; Shuda, Chen

2014-01-01

16

A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up.  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is a recently described, neuronal migration disorder, characterized by pseudobulbar palsy, epilepsy and mental retardation and bilateral perisylvian dysplasia. A 15-year-old boy was diagnosed with CBPS according to the typical clinical, and magnetic resonance imaging (MRI) features. The patient was suffering from atypical absence seizures, repeating daily in spite of antiepileptic drug therapy, since age 7 years. He had also experienced rare generalized tonic-clonic seizures and complex partial seizures. Neurological examination showed severe restriction of tongue movements, severe dysarthria, dysphagia, facial diplegia, mild pyramidal signs and moderate mental retardation. A computed tomographic (CT) scan demonstrated bilateral perisylvian enlargement. The diagnosis was corrected with MRI after six years. Frequent irregular generalized spike and wave abnormalities and focal sharp and slow waves over the posterior regions of both hemispheres were shown by electroencephalograms (EEG). The patient was treated with Na-Valproate, carbamazepine and lamotrigine but did now show any significant change in seizure frequency in the eight-year follow-up period. Intractable seizures, mental retardation and particularly congenital pseudobulbar palsy suggest this congenital entity. Those patients who exhibit these typically clinical features, must have MRI. PMID:9530947

Baykan-Kurt, B; Sarp, A; Gökyi?it, A; Tunçay, R; Cali?kan, A

1997-12-01

17

Bilateral perisylvian ulegyria: clinicopathological study of patients presenting with pseudobulbar palsy and epilepsy.  

PubMed

Structural abnormalities related with pseudobulbar palsy have been gaining attention because of their characteristic symptoms and unique pathogenesis. We present five cases of bilateral perisylvian ulegyria (BPU) presenting epilepsy and pseudobulbar palsy with pathogenesis different from previously reported syndromes. All patients showed medically intractable seizures, complex partial seizures with secondary generalization and clinical symptoms of pseudobulbar palsy, including dysarthria, limitation of tongue movement and drooling. MRI revealed BPU in all patients, and BPU associated with hippocampal sclerosis in four patients. Intracranial EEG recording with subdural grip and stripe was helpful for localizing the area of ictal generation. Resective surgeries, including the temporal lobe, central area and parietal lobe, were performed depending on the localizing information. The surgical outcome was favorable after 9.8 years of follow-up. Characteristic features of ulegyria were confirmed on pathological examination. Ulegyria is considered to be another important perinatal or postnatal structural abnormality which can explain the etiological heterogeneity for pseudobulbar palsy, which results from bilateral perisylvian lesions. Awareness of this disorder can provide a useful strategy for evaluation and treatment which differs from that in perisylvian polymicrogyria. PMID:16771181

Kim, Hyoung-Ihl; Lee, Min-Cheol; Lee, Ji-Shin; Kim, Hyung-Seok; Kim, Myeong-Kyu; Woo, Young-Jong; Kim, Jae-Hyoo; Jung, Shin; Palmini, Andre; Kim, Seung U

2006-06-01

18

Worster-Drought and congenital perisylvian syndromes-a continuum?  

PubMed

A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. Magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome. PMID:11275467

Nevo, Y; Segev, Y; Gelman, Y; Rieder-Grosswasser, I; Harel, S

2001-02-01

19

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia  

Microsoft Academic Search

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face,

Seiichiro Yoshioka; Tomoyuki Takano; Kumiko Matsuwake; Tatsuyuki Sokoda; Yoshihiro Takeuchi

2011-01-01

20

Bilateral Subclavian Steal Syndrome  

PubMed Central

Bilateral subclavian steal syndrome is a rare condition. It is usually due to reversal of vertebral blood flow in the setting of bilateral proximal subclavian or left subclavian plus innominate artery severe stenosis or occlusion. This finding may cause cerebral ischemia related to upper extremities exercise. We report a case of bilateral subclavian steal secondary to total occlusion of the innominate and left subclavian arteries in a patient who presented with cardiomyopathy and flow reversal in the right carotid and bilateral vertebral arteries. PMID:24804108

Amini, Reza; Gornik, Heather L.; Gilbert, Leslie; Whitelaw, Sue; Shishehbor, Mehdi

2011-01-01

21

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.  

PubMed

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia. PMID:20444562

Yoshioka, Seiichiro; Takano, Tomoyuki; Matsuwake, Kumiko; Sokoda, Tatsuyuki; Takeuchi, Yoshihiro

2011-02-01

22

Bilateral silent sinus syndrome.  

PubMed

Silent sinus syndrome is a rare clinical entity associated with progressive enophthalmos, collapse of the maxillary sinus, and hypoglobus. We report a case of bilateral silent sinus syndrome in a 29-year-old man. Representative radiographic and intraoperative images are presented. The purpose of this article is to illustrate a new presentation of the disease and to review the current diagnostic and treatment modalities. PMID:23288826

Suh, Jeffrey D; Ramakrishnan, Vijay; Lee, Jennifer Y; Chiu, Alexander G

2012-12-01

23

Anatomical predictors of aphasia recovery: a tractography study of bilateral perisylvian language networks.  

PubMed

Stroke-induced aphasia is associated with adverse effects on quality of life and the ability to return to work. For patients and clinicians the possibility of relying on valid predictors of recovery is an important asset in the clinical management of stroke-related impairment. Age, level of education, type and severity of initial symptoms are established predictors of recovery. However, anatomical predictors are still poorly understood. In this prospective longitudinal study, we intended to assess anatomical predictors of recovery derived from diffusion tractography of the perisylvian language networks. Our study focused on the arcuate fasciculus, a language pathway composed of three segments connecting Wernicke's to Broca's region (i.e. long segment), Wernicke's to Geschwind's region (i.e. posterior segment) and Broca's to Geschwind's region (i.e. anterior segment). In our study we were particularly interested in understanding how lateralization of the arcuate fasciculus impacts on severity of symptoms and their recovery. Sixteen patients (10 males; mean age 60 ± 17 years, range 28-87 years) underwent post stroke language assessment with the Revised Western Aphasia Battery and neuroimaging scanning within a fortnight from symptoms onset. Language assessment was repeated at 6 months. Backward elimination analysis identified a subset of predictor variables (age, sex, lesion size) to be introduced to further regression analyses. A hierarchical regression was conducted with the longitudinal aphasia severity as the dependent variable. The first model included the subset of variables as previously defined. The second model additionally introduced the left and right arcuate fasciculus (separate analysis for each segment). Lesion size was identified as the only independent predictor of longitudinal aphasia severity in the left hemisphere [beta = -0.630, t(-3.129), P = 0.011]. For the right hemisphere, age [beta = -0.678, t(-3.087), P = 0.010] and volume of the long segment of the arcuate fasciculus [beta = 0.730, t(2.732), P = 0.020] were predictors of longitudinal aphasia severity. Adding the volume of the right long segment to the first-level model increased the overall predictive power of the model from 28% to 57% [F(1,11) = 7.46, P = 0.02]. These findings suggest that different predictors of recovery are at play in the left and right hemisphere. The right hemisphere language network seems to be important in aphasia recovery after left hemispheric stroke. PMID:24951631

Forkel, Stephanie J; Thiebaut de Schotten, Michel; Dell'Acqua, Flavio; Kalra, Lalit; Murphy, Declan G M; Williams, Steven C R; Catani, Marco

2014-07-01

24

Congenital polymicrogyria including the perisylvian region in early childhood.  

PubMed

Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying disorders in two cases, namely Kabuki syndrome and Peters' anomaly. In the other four cases, the pathogenetic etiology was not elucidated. Subtle symptoms, such as choking and drooling became detectable in one case each, and expressive language development was delayed in two patients. A developmental delay became apparent in five cases during the follow-up period, and epilepsy was observed in one patient with onset at 12 years of age. Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. To support cognitive and psychosocial development, an early integrated approach, including not only conventional speech and language therapy, but also various communication methods is essential for patients with congenital polymicrogyria including the perisylvian region. PMID:20201970

Takano, Tomoyuki; Matsuwake, Kumiko; Yoshioka, Seiichirou; Takeuchi, Yoshihiro

2010-03-01

25

MRI in a patient with the Worster-Drought syndrome.  

PubMed

We describe a patient with the Worster-Drought syndrome (congenital suprabulbar paresis), thought to be a failure of development of the corticobulbar tracts. MRI showed bilateral perisylvian cortical dysplasia. PMID:10929298

Arbelaez, A; Castillo, M; Tennison, M

2000-06-01

26

Fetal alcohol syndrome and bilateral tibial exostoses  

Microsoft Academic Search

Maternal exposure to alcohol during pregnancy has been associated with fetal malformations referred to as the fetal alcohol syndrome. This paper describes, for the first time, the presence of bilateral tibial exostoses in a child with FAS.

E. M. Azouz; G. Kavianian; V. M. Der Kaloustian

1993-01-01

27

[Bilateral carpal tunnel syndrome with familial accumulation].  

PubMed

We report on a six-year-old girl with bilateral carpal tunnel syndrome with familial accumulation. Parents and one grandmother had positive history for CTS, treated by surgical decompression. Following neurologic and radiologic evaluation and after failed conservative treatment in a plaster cast, open carpal tunnel release was performed in a two-stage procedure. Postoperatively symptoms diminished and now six months after surgery, all complaints disappeared completely. PMID:15997428

Moser, V L; Krimmer, H; Lanz, U

2005-06-01

28

Bilateral piriformis syndrome after total hip arthroplasty  

Microsoft Academic Search

We present the case of a 39-year-old man with bilateral piriformis syndrome 4 and 6 years after two cementless total hip\\u000a arthroplasties, respectively. During surgical exploration, each sciatic nerve was found to be entrapped by a tense piriformis\\u000a muscle and hypertrophic posterior hip capsule. The sciatic-type pain was relieved after sectioning each piriformis muscle\\u000a with external neurolysis. This is the

Y. Uchio; U. Nishikawa; M. Ochi; N. Shu; K. Takata

1998-01-01

29

Acute bilateral spontaneous forearm compartment syndrome.  

PubMed

Acute spontaneous compartment syndrome of the forearm is rarely reported in the literature. It is typically associated with trauma or thromboembolism in the acute setting and repetitive exertional stress in the chronic setting. However it is rare for it to present bilaterally with no apparent underlying cause. We report the case of a young 31-year-old lady who presented to our Emergency Department with bilateral compartment syndrome of the forearm. Her presenting complaints included acute severe pain and swelling of the forearms bilaterally, with a decreased range of movement of the wrist and fingers. She also complained of numbness in all fingers. She had no history of recent trauma and ultrasound scans showed no evidence of vascular compromise. Past medical history was notable only for idiopathic hypertension and coeliac disease. The patient was taken to theatre urgently where flexor and extensor compartments and carpal tunnel were decompressed. Pronator Teres was found to be dusky initially but turned pink after decompression. All other muscles were normal. An interesting fact of this case was that combination of the high compartment pressures and anaesthetic related hypotension caused the forearm pulses to become impalpable at induction, these returned intra-operatively. The patient has been seen in the outpatient department following discharge. She is well apart from some mildly reduced grip strength in her right hand likely due to carpal tunnel decompression. No cause was found for the scenario after extensive medical investigation. PMID:24641749

Dalton, David M; Munigangaiah, Sudarshan; Subramaniam, Tava; McCabe, John P

2014-01-01

30

Bilateral subclavian steal syndrome with vertigo.  

PubMed

Subclavian steal syndrome (SSS) is usually caused by unilateral subclavian artery (SA) occlusion, and bilateral SSS is very rare. Takayasu's arteritis (TA) is a chronic granulomatous form of vasculitis that affects the SA, most commonly in women aged 15-40 years. We report a rare case of bilateral SSS due to TA in a 52-year-old woman, who exhibited severe vertigo. Although her blood pressure was within the normal range and did not differ between her arms, Doppler ultrasonography revealed low antegrade blood flow in the right SA and retrograde flow in the left SA. Computed tomography angiography demonstrated complete obstruction of the bilateral SA proximal to the vertebral artery origin. The more marked decrease in the blood flow of the vertebrobasilar artery experienced in bilateral SSS compared with unilateral SSS is considered to have caused the severe rotatory vertigo in the present patient. Since the vascular conditions of TA progressively deteriorate, delayed diagnosis and treatment could result in poor outcomes and unfavorable prognosis. We suggest that SSS with TA might require an early detection and treatment as well as careful follow-up for preventing vertigo and other neurological deficits in the vertebrobasilar arterial region. PMID:24206829

Yamanaka, Toshiaki; Sawai, Yachiyo; Hosoi, Hiroshi

2014-06-01

31

Bilateral condylar resorption in down syndrome.  

PubMed

Asymptomatic idiopathic condylar resorption is a rare disease of difficult diagnosis and treatment. We review the literature about this rare condition and report a case of a patient, affected by Down syndrome, who underwent a complete untreated bilateral condylar resorption in adolescence and then developed pain on chewing only 20 years later. Despite a precise orthodontic and surgical therapeutic plan, treatment had to be discontinued because of patient lack of compliance. This case is the first of its kind to be reported and emphasizes the need for special attention in patients with disability. PMID:25376143

Grippaudo, Cristina; Grippaudo, Francesca Romana; Marianetti, Tito Matteo; Cacucci, Laura; Deli, Roberto; Pelo, Sandro

2014-11-01

32

Progressive bilateral anterior sacral meningoceles in Marfan syndrome  

Microsoft Academic Search

Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of

R. J. Scheck; T. Schramm; K.-P. Gloning; T. Vogl; E. Ostermayer

1995-01-01

33

Bilateral adrenal haemorrhagic infarction in a patient with antiphospholipid syndrome.  

PubMed

A 68-year-old woman with antiphospholipid syndrome presented with a 3-day history of bilateral loin pain, vomiting, fever and confusion. On examination she was febrile, hypotensive and tachycardic. Investigations revealed raised inflammatory markers, renal impairment and hyponatraemia. Abdominal ultrasound revealed two well-defined heterogeneous areas bilaterally in the region of the adrenal glands. This prompted serum cortisol measurement and a CT of the abdomen. Cortisol was low in the context of sepsis at 48?nmol/L, and CT confirmed bilateral heterogeneous adrenal pathology. The patient was managed for septic shock and adrenal insufficiency. She was recognised to have several risk factors for haemorrhagic infarction of the adrenals: antiphospholipid syndrome, sepsis, postoperative state and anticoagulant therapy. She was discharged well on glucocorticoid and mineralocorticoid therapy and a repeat CT at 4?weeks confirmed the diagnosis of bilateral adrenal infarct and haemorrhage. PMID:25410037

Godfrey, Rebecca Louise; Clark, James; Field, Benjamin

2014-01-01

34

Perisylvian language networks of the human brain  

Microsoft Academic Search

Early anatomically based models of language consisted of an arcuate tract connecting Broca's speech and Wernicke's comprehension centers; a lesion of the tract resulted in conduction aphasia. However, the heterogeneous clinical pre- sentations of conduction aphasia suggest a greater complexity of perisylvian anatomical connections than allowed for in the classical anatomical model. This article re-explores perisylvian language connectivity using in

Marco Catani; Derek K. Jones; Dominic H. ffytche

2005-01-01

35

Congenital Bilateral Perislyvian Syndrome: Case Report and Review of Literature  

PubMed Central

Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535

Gowda, Anand K.; Mane, Ranoji Shivaji; Kumar, Ashok

2013-01-01

36

Spontaneous bilateral compartment syndrome in a HIV-positive patient.  

PubMed

Spontaneous bilateral compartment syndrome is a very rare condition but one which requires swift diagnosis and urgent surgical decompression by fasciotomies in order to achieve the best outcome. We present the case of a 31-year-old HIV-positive man. The case highlights the perils of being sidetracked by an atypical clinical history instead of acting on the classical clinical examination findings. We will discuss the presentation and management of this patient, review the literature and highlight the key learning points. The most important learning point being that no matter how atypical the history, if a patient presents with limb pain out of proportion to the injury (with or without pain on passive stretch), sensory changes and a loss of motor power, then a diagnosis of acute compartment syndrome must be considered. PMID:24347455

Davidson, Donald James; Shaukat, Yasir Mehmood; Jenabzadeh, Reza; Gupte, Chinmay M

2013-01-01

37

Isolated bilateral uveitis in child with hypereosinophilic syndrome.  

PubMed

The ocular involvement has rarely been described in hypereosinophilic syndrome (HES). We report an 8-year-old girl with HES and isolated bilateral uveitis as end-organ damage. Almost 20 months after detection of persistent asymptomatic eosinophilia, she developed complete loss of vision in right eye due to retinal detachment and decreased vision in left eye. We treated this organ-threatening condition with prednisolone and imatinib mesylate, although she was negative for FIP1L1-PDGRFA fusion gene. The vision in her left eye returned to normal. At present, the child is on alternate-day low-dose prednisolone and daily imatinib. Early recognition and aggressive treatment is essential in HES with ocular involvement to save vision. Imatinib is a useful adjuvant drug even in PDGRFA/FIP1L1-negative HES. PMID:24390454

Ramzan, Mohammed; Chopra, Yogiraj; Grover, Ashok K; Yadav, Satya P

2014-10-01

38

Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome.  

PubMed

Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children. PMID:10698330

Christen, H J; Hanefeld, F; Kruse, E; Imhäuser, S; Ernst, J P; Finkenstaedt, M

2000-02-01

39

Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report  

PubMed Central

Introduction Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. This anomaly has not been previously reported in the children of a non- consanguineous marriage. Case presentation This case report describes a two-day-old girl baby of Arab origin with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. Conclusions This report describes a finding of bilateral congenital cataract associated with thrombocytopenia and absent radii syndrome that has been reported only once before in the literature. This case report highlights a new ocular manifestation in one of the bone marrow failure syndromes. PMID:22742195

2012-01-01

40

Bilateral Q angle asymmetry and anterior knee pain syndrome  

Microsoft Academic Search

Objective. To determine whether quadriceps (Q) angles were bilaterally symmetric in individuals asymptomatic vs symptomatic for anterior knee pain.Design. Cross-sectional study.Background. Previous attempts to link excessive Q angles to the occurrence of knee pain have yielded equivocal results. Deriving unilateral rather than bilateral measures of the Q angle and thereafter analysing data using traditional between-group analysis-of-variance structural models may, however,

Lori A. Livingston; James L. Mandigo

1999-01-01

41

A case of bilateral seminoma in the setting of persistent mullerian duct syndrome.  

PubMed

We are reporting on the case of a 46XY male patient that presented a bilateral testicular seminoma in the setting of bilateral cryptorchidia and left inguinal hernia. The patient received five courses of cisplatin/ciclophosphamide followed by 3,000 cGy of radiation. The patient then, underwent resection of the residual mass and of an unrecognizable pelvic structure. The histopathological analysis revealed necrosis of the residual seminoma and an atrophic uterus. Currently, the patient is alive and asymptomatic at 88 months of follow-up. This is the third case reported of a patient with persistent mullerian duct syndrome and bilateral seminoma. PMID:11421115

Dueńas, A; Saldívar, C; Castillero, C; Flores, G; Martínez, P; Jiménez, M

2001-01-01

42

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

ERIC Educational Resources Information Center

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…

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

2004-01-01

43

Bilateral ureteral triplication with crossed ectopic fused kidneys associated with the VACTERL syndrome.  

PubMed

We report a case of bilateral ureteral triplication associated with crossed ectopic fused kidneys, vesicoureteral reflux and the VACTERL syndrome (Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheo-Esophageal fistula, Radial and renal anomalies, and Limb defects). The relevant literature is reviewed. PMID:2657108

Golomb, J; Ehrlich, R M

1989-06-01

44

Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV  

SciTech Connect

Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

Hagspiel, Klaus D., E-mail: kdh2n@virginia.edu [University of Virginia, Department of Radiology (United States); Bonatti, Hugo [Vanderbilt University, Department of Surgery (United States); Sabri, Saher [University of Virginia, Department of Radiology (United States); Arslan, Bulent [Moffitt Cancer Center (United States); Harthun, Nancy L. [Johns Hopkins University, Division of Vascular Surgery, Department of Surgery (United States)

2011-04-15

45

Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome.  

PubMed

Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance. PMID:25071892

Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena

2014-07-28

46

Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome  

PubMed Central

Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance. PMID:25071892

Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena

2014-01-01

47

A case of bilateral silent sinus syndrome presenting with chronic ocular surface disease.  

PubMed

The silent sinus syndrome is characterized by atelectasis of the maxillary sinus in the setting of subclinical maxillary sinusitis and obstruction of the osteomeatal unit. The resultant expansion of orbital volume causes enophthalmos and hypoglobus. A review of the literature reveals only unilateral cases. The authors present a case of bilateral silent sinus syndrome presenting with chronic ocular surface disease. A 56-year-old man was referred for tarsorrhaphy to treat a chronic recurrent corneal ulcer. Exam revealed an area of corneal thinning in the left eye. The patient appeared cachectic and there was enophthalmos, hypoglobus, and lagophthalmos on both sides, left worse than right. Due to the patient's appearance and a history of sinonasal malignancy, recurrent malignancy was suspected. A systemic workup was unrevealing, and radiographic studies showed the features of silent sinus syndrome bilaterally. The patient underwent sinus surgery and placement of a left orbital floor implant. PMID:21242847

Liss, Jason A; Patel, Ravi D; Stefko, S Tonya

2011-01-01

48

Bilateral Adrenal Hemorrhage in a Patient with Myelodysplastic Syndrome: Value of MRI in the Differential Diagnosis  

PubMed Central

Bilateral adrenal hemorrhage is a rare potentially life-threatening event that occurs either in traumatic or nontraumatic conditions. The diagnosis is often complicated by its nonspecific presentation and its tendency to intervene in stressful critical illnesses. Due to many disorders in platelet function, hemorrhage is a major cause of morbidity and mortality in patients affected by myeloproliferative diseases. We report here the computed tomography and magnetic resonance imaging findings of a rare case of bilateral adrenal hemorrhage in a patient with myelodysplastic syndrome, emphasizing the importance of MRI in the differential diagnosis. PMID:24381776

Manganaro, Lucia; Al Ansari, Najwa; Saldari, Matteo; Vitturini, Claudia; Glorioso, Marianna; Buonocore, Valeria; Barchetti, Giovanni; Maccioni, Francesca

2013-01-01

49

Bi-opercular Syndrome: A Case Report and Minireview.  

PubMed

Opercular syndrome is a well known but neglected entity and is quite common, but it is difficult for non-neurologists to diagnose this entity because of lack of awareness. Inability to speak and swallow with dissociation of automatic voluntary movements in the affected muscles are the essential features of this syndrome. The aetiology in most of the reported cases is vascular (thrombosis or embolism) involving branches of middle cerebral artery supplying the opercular area. We are reporting a case of "bilateral opercular syndrome" caused by stroke in a young patient. He had sudden onset of bilateral facial and tongue palsy, inability to speak and swallow, but with preserved automatic functions. He was mute but verbal comprehension was normal. CT head revealed bilateral perisylvian infarcts. PMID:25121016

Praveen-Kumar, S; Pramod, K

2014-06-01

50

Anatomical asymmetries of anterior perisylvian speech-language regions.  

PubMed

Anterior cortical perisylvian areas important for speech and language functions include the pars triangularis (PTR), comprised of heteromodal association cortex, and the pars opercularis (POP), comprised of motor association cortex. The anatomy of these frontal language regions has not been well studied in large samples, however in smaller samples, leftward asymmetry of these regions has been found. Sex-linked differences have also been suggested, with bilateral activation of frontal language areas in women and leftward activation in men. We used volumetric MRI methods to measure the gray matter volume of the PTR, POP, and diagonal sulcus (DS) in 60 healthy right-handed adults and examined the distribution of asymmetry of these regions. Sex-linked differences in volume and asymmetry of anterior speech regions were also examined. For the PTR, there was a slight leftward asymmetry, however for the POP+DS, there was a slight rightward asymmetry. The DS was present slightly more often in the right hemisphere than in the left hemisphere and its frequency was similar in men and women. There were no significant sex-linked differences in volume or asymmetry for any of these frontal areas. More studies are necessary, looking at the anatomy of anterior language regions in large samples and examining the relationship between anatomy and function. PMID:17623996

Knaus, Tracey A; Corey, David M; Bollich, Angela M; Lemen, Lisa C; Foundas, Anne L

2007-05-01

51

Bilateral supplemental permanent maxillary lateral incisors in a non-syndromic patient.  

PubMed

A supernumerary tooth is an additional entity to the normal series and can be seen in all quadrants of the jaw. Occurrence may be single or multiple, unilateral or bilateral, erupted or impacted in one or in both jaws. Multiple supernumeraries are rare in individuals with no other associated disease or syndromes. The conditions commonly associated with an increased prevalence of supernumerary teeth include cleft lip and palate, cleidocranial dysplasia and Gardner syndrome. The supplemental supernumerary refers to a duplication of teeth in normal series and is found at the end of a tooth series. A supplemental tooth may closely resemble the teeth of the group to which it belongs or it may bear little resemblance in size or shape to the teeth with which it is associated. This report presents a case with bilateral supplemental upper permanent lateral incisors without any symptoms of associated disorders. PMID:25168674

Bhullar, Mandeep Kaur; Uppal, Amandeep Singh; Kochhar, Gulsheen Kaur; Singh, Ranjit

2014-01-01

52

Bilateral Renal Tumour as Indicator for Birt-Hogg-Dub? Syndrome  

PubMed Central

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax. PMID:24772173

Johannesma, P. C.; van Moorselaar, R. J. A.; Horenblas, S.; van der Kolk, L. E.; Thunnissen, E.; van Waesberghe, J. H. T. M.; Menko, F. H.; Postmus, P. E.

2014-01-01

53

Bilateral lung transplantation in a patient with Vascular Ehlers-Danlos syndrome.  

PubMed

We describe the case of a 29-year-old woman with end-stage chronic obstructive pulmonary disease secondary to vascular Ehlers-Danlos syndrome. Because of critical deterioration, respiratory arrest, and complete lung failure, she required urgent implantation of a venovenous extracorporeal membrane oxygenator as a bridge to lung transplantation. After 6 days of extracorporeal life support, a successful bilateral sequential lung transplantation was performed. This is the first case of lung transplantation in a patient with a diagnosis of chronic obstructive pulmonary disease secondary to Ehlers-Danlos syndrome. PMID:24792277

García Sáez, Diana; Mohite, Prashant N; Zych, Bartlomiej; Sabashnikov, Anton; Moza, Ajay; Carby, Martin; Simon, André R

2014-05-01

54

Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV  

Microsoft Academic Search

Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with\\u000a EDS-IV who presented with metachronous bilateral aneurysms\\/pseudoaneurysms of the posterior tibial arteries 15 months apart.\\u000a Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

Klaus D. HagspielHugo; Hugo Bonatti; Saher Sabri; Bulent Arslan; Nancy L. Harthun

2011-01-01

55

Non-Syndromic Bilateral Supplemental Maxillary Lateral Incisors: A Rare Case  

PubMed Central

Supernumerary teeth or hyperdontia are defined as the teeth that exceeds the normal dental formula, regardless of their location and morphology. A supernumerary tooth is a developmental anomaly and it has been argued to arise from multiple aetiologies. Supernumerary teeth with orthodox shapes and sizes, that resemble the normal dentition are called ‘supplemental teeth’. The supplemental teeth are often overlooked because of their normal shapes and sizes. Supplemental lateral incisors are rare and bilateral cases are even rarer, with only two cases being reported in the literature till date. Therefore, we are describing a rare case of non–syndromic, bilateral, supplemental, maxillary, lateral incisors and we have discussed the management of supernumerary teeth. PMID:24086923

Nagpal, Ajay; Hans, Manoj Kumar; Shetty, Shashit; Kaur, Navpreet; Kumar, Sunil

2013-01-01

56

Bilateral Internal Carotid Artery Occlusion Associated with the Antiphospholipid Antibody Syndrome  

PubMed Central

A 39-year-old woman presented with a right-hemispheric stroke 1 year after she had suffered a left-hemispheric stroke. Her diagnostic workup was notable for bilateral occlusions of the internal carotid arteries at their origins and a positive lupus anticoagulant antibody test. There was no evidence of carotid dissection or another identifiable cause for her carotid occlusions. These findings suggest that the antiphospholipid antibody syndrome may be implicated in the pathological changes that resulted in occlusions of the extracranial internal carotid arteries. Young stroke patients who present with unexplained internal carotid artery occlusions may benefit from testing for the presence of antiphospholipid antibodies. PMID:24707268

Anand, Pria; Mann, Sharan K.; Fischbein, Nancy J.; Lansberg, Maarten G.

2014-01-01

57

Bilateral subclavian steal syndrome in an intensive care unit. A case report.  

PubMed

We report the case of a 56-year-old man who presented with arterial hypotension, lightheadedness, vomiting, a sense of tingling in his right arm, and a right-beating horizontal nystagmus. He was initially admitted to the Intensive care unit and treated with standard vasopressor agents. A neurosonological examination showed the steal phenomenon on both vertebral arteries; the neuroradiological examination revealed occlusion of the left subclavian artery and subtotal stenosis of the innominate artery. Percutaneous transluminal angioplasty was performed. Our case demonstrates how bilateral subclavian steal syndrome should be taken into account in the case of a seemingly hypotensive patient unresponsive to standard therapy. PMID:25110770

Budincevic, Hrvoje; Friedrich, Latica; Tolj-Karaula, Nikolina; Maric, Nikolina; Sucic, Tena; Bielen, Ivan

2014-09-01

58

Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.  

PubMed Central

A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histological appearance, immunocytochemical findings, and the clinical context gave evidence that the tumours had to be reclassified as endolymphatic sac tumours--extremely rare entities. The report supports the hypothesis, suggested by the few earlier case reports, that endolymphatic sac tumours could be one of the inherent tumour manifestations in von Hippel-Lindau syndrome. Images PMID:8795608

Kempermann, G; Neumann, H P; Scheremet, R; Volk, B; Mann, W; Gilsbach, J; Laszig, R

1996-01-01

59

[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia].  

PubMed

The patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included. PMID:2743681

Ohtake, T; Nagashima, T; Yamane, M; Tanabe, H

1989-01-01

60

Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?  

PubMed

Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings. PMID:19396832

Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

2009-05-01

61

Lower extremity anterior compartment syndrome complicating bilateral mastectomy and immediate breast reconstruction: A case report and literature review  

PubMed Central

‘Well leg compartment syndrome’ refers to compartment syndrome occurring in a nontraumatic setting. This occurs most commonly in the lower limb during surgery performed with the patient in an anatomically vulnerable position. While this complication is well documented in the setting of orthopedic, urological and gynecological surgeries, it is an exceptionally rare complication in plastic surgery; only seven cases have been published on compartment syndrome complicating an operation performed on a supine patient. A case involving a 56-year-old woman who developed an anterior compartment syndrome of her right lower leg following a bilateral mastectomy with immediate breast reconstruction is presented. A detailed literature review is also included. PMID:23730157

Tashakkor, A Yashar; Macadam, Sheina A

2012-01-01

62

Conn's syndrome and bilateral renal artery stenosis in the presence of multiple renal arteries.  

PubMed

We report the case of a 42-year-old male who was admitted to our hospital after an acute hypertensive crisis despite four-way anti-hypertensive therapy. The renal scintigraphy, the excretory urogram and the biochemical profile performed two years before were unremarkable, except for slightly elevated serum creatinine and plasma aldosterone, in presence of normal aldosterone/renin ratio. The renal arterial angiography that was performed despite a second unremarkable scintigraphy revealed high-grade bilateral arterial stenosis in the presence of multiple renal arteries. Following dilatation of the left stenosis, the aldosterone/renin ratio was pathologic. Recumbent and orthostatic aldosterone values were 830 pg/ml and 1824 pg/ml, respectively, and recumbent and orthostatic renin values were 0.82 and 1.21 ng angiotensin I/ml/h, respectively. The abdominal computed tomography performed to investigate a possible concomitant Conn's syndrome resulted in the detection of a left adrenal tumor. After resection of the lesion, plasma-aldosterone levels normalized and a pronounced rise in serum potassium levels was observed. Following angioplasty of the right renal artery stenosis, blood pressure could easily be managed with combined beta and calcium channel blocker therapy. Particularly in cases of bilateral (but also in the presence of unilateral) renal artery stenosis in association with Conn's syndrome, all the available screening methods for these disorders can fail. In cases of poor response to combination hypertensive therapies, renal arteriography and a fludrocortisone-suppression test should be performed in order to rule out both renal arterial stenosis and Conn's syndrome, even in the absence of clinical and biochemical findings suspicious for either disorder. PMID:11383914

Glodny, B; Cromme, S; Wörtler, K; Herwig, R; Kisters, K; Winde, G

2001-04-01

63

Primary Peritoneal Cancer After Bilateral Salpingo-oophorectomy in Two Patients With Lynch Syndrome  

PubMed Central

Background Women with Lynch syndrome or hereditary nonpolyposis colorectal carcinoma (HNPCC) have a 40-60% lifetime risk of endometrial cancer and a 7-12% lifetime risk of ovarian cancer. Risk-reducing surgery, including hysterectomy and bilateral salpingooophorectomy (BSO), is currently recommended once childbearing is complete. We describe two cases of primary peritoneal cancer following BSO in women with Lynch syndrome or HNPCC. Cases The first patient was a 44 year-old woman who underwent hysterectomy with BSO for benign disease. She presented 12 years later with a pelvic mass and was diagnosed with a high-grade serous primary peritoneal cancer. Genetic testing showed a mutation in the MSH2 DNA mismatch repair gene. The second case wasa 58 year-old woman who had a hysterectomy and BSO for endometrial cancer. She developed a high-grade serous primary peritoneal cancer 8 years later and was found to have a mutation in the PMS2 DNA mismatch repair gene. Conclusion Women with Lynch syndrome or HNPCC should be counseled that they may be at risk for developing primary peritoneal cancer despite undergoing gynecologic cancer risk-reducing surgery. The magnitude of this risk remains to be determined. PMID:20093870

Schmeler, Kathleen M.; Daniels, Molly S.; Soliman, Pamela T.; Broaddus, Russell R.; Deavers, Michael T.; Vu, Thuy M.; Chang, George J.; Lu, Karen H.

2014-01-01

64

Unilateral or bilateral vagotomy induces ovulation in both ovaries of rats with polycystic ovarian syndrome  

PubMed Central

Background Injecting estradiol valerate (EV) to pre-pubertal or adult female rat results in effects similar to those observed in women with polycystic ovarian syndrome (PCOS). One of the mechanisms involved in PCOS development is the hyperactivity of the sympathetic nervous system. In EV-induced PCOS rats, the unilateral sectioning of the superior ovarian nerve (SON) restores ovulation of the innervated ovary. This suggests that, in addition to the sympathetic innervation, other neural mechanisms are involved in the development/maintenance of PCOS. The aims of present study were analyze if the vagus nerve is one of the neural pathways participating in PCOS development. Methods Ten-day old rats were injected with EV dissolved in corn oil. At 24-days of age sham-surgery, unilateral, or bilateral sectioning of the vagus nerve (vagotomy) was performed on these rats. The animals were sacrificed at 90–92 days of age, when they presented vaginal estrous preceded by a pro-estrus smear. Results In EV-induced PCOS rats, unilateral or bilateral vagotomy restored ovulation in both ovaries. Follicle-stimulating hormone (FSH) levels in PCOS rats with unilateral or bilateral vagotomy were lower than in control rats. Conclusions This result suggests that in EV-induced PCOS rats the vagus nerve is a neural pathway participating in maintaining PCOS. The vagus nerve innervates the ovaries directly and indirectly through its synapsis in the celiac-superior-mesenteric ganglion, where the somas of neurons originating in the SON are located. Then, it is possible that vagotomy effects in EV-induced PCOS rats may be explained as a lack of communication between the central nervous system and the ovaries. PMID:23866168

2013-01-01

65

A syndrome of bilateral symmetrical basal ganglia lesions in diabetic dialysis patients.  

PubMed

A rare syndrome of acute symmetrical bilateral basal ganglia lesions in diabetic dialysis patients that manifests clinically with headache, dysarthria, and gait and movement disorder has been described almost exclusively in patients of Asian descent. The pathophysiology of this condition has not been established. Of the 28 cases reported, 3 patients have been from North America. In the context of magnetic resonance imaging showing dramatic resolution of lesions of the basal ganglia, this report describes a fourth case from North America of a 47-year-old Hispanic woman with diabetes on dialysis therapy who presented with headache, unsteady gait, and slurred speech. We also consider presymptomatic metabolic abnormalities in the pathogenesis of this disease. PMID:24183109

Finelli, Pasquale F; Singh, Joseph U

2014-02-01

66

The Role of Left Perisylvian Cortical Regions in Spelling  

ERIC Educational Resources Information Center

In order to examine the role of left perisylvian cortex in spelling, 13 individuals with lesions in this area were administered a comprehensive spelling battery. Their spelling of regular words, irregular words, and nonwords was compared with that of individuals with extrasylvian damage involving left inferior temporo-occipital cortex and normal…

Henry, Maya L.; Beeson, Pelagie M.; Stark, Amy J.; Rapcsak, Steven Z.

2007-01-01

67

Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology.  

PubMed

Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities may co-exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two females; age range 2 to 20 years), highlighting the heterogeneous causes of suprabulbar palsy using neuroimaging and emphasizing the need for systematic investigation for early detection and management. We identified patients with symmetrical infarcts involving the perisylvian region, apart from already-recognized conditions, such as congenital bilateral perisylvian syndrome (CBPS; a neuronal migration disorder) and Worster-Drought syndrome. CBPS simulates Foix-Chavany-Marie syndrome in adults because of staged stroke but differs in many respects. Anoxia or ischemia to the developing brain could be a common plausible aetiology. Studies with large groups of patients are required to differentiate the various subgroups and identify essential criteria for diagnosis. PMID:15344522

Suresh, Poovathinal A; Deepa, Cherukunnathu

2004-09-01

68

Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.  

PubMed

Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved. PMID:15057985

Kammoun, Fatma; Tanguy, Alain; Boesplug-Tanguy, Odile; Bensahel, Henri; Khouri, Nejib; Landrieu, Pierre

2004-04-15

69

Atypical Wernicke's syndrome sans encephalopathy with acute bilateral vision loss due to post-chiasmatic optic tract edema  

PubMed Central

A middle aged male presented with acute bilateral vision loss, 4 weeks after undergoing gastric bypass surgery for gastric carcinoma. He had normal sensorium, fundoscopy, normal pupillary reaction to light, but had mild opthalmoparesis and nystagmus with ataxia. Magnetic resonance imaging of the brain revealed post-chiasmatic optic tract edema along with other classical features of Wernicke's syndrome. Thiamine supplementation leads to complete resolution of clinical as well as imaging findings. In appropriate clinical settings, a high index of suspicion and early treatment are essential for managing Wernicke's syndrome even in patients with atypical clinical and imaging presentation. PMID:24753673

Desai, Soaham Dilip; Shah, Diva Sidharth

2014-01-01

70

Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.  

PubMed

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention. PMID:23141186

Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi

2013-08-01

71

Changes in leg pain after bilateral fasciotomy to treat chronic compartment syndrome: a case series study  

PubMed Central

Background Intracompartmental pressure (ICP) as the diagnostic gold standard in the management of chronic compartment syndrome (CCS) is debated. We present a diagnostic protocol in which the decision to operate can be based upon clinical findings alone. The aim of this study was to examine whether patients who underwent surgery for CCS based on clinical findings experienced significant long-term pain relief. Methods A standardized clinical examination, including skin sensitivity, was performed in patients with bilateral leg pain and/or cramps. Before and after a symptom-provoking step test, ICPs were measured. The primary outcome was self-reported leg pain measured on a visual analogue scale. Secondary outcomes were satisfaction with the treatment result and health-related quality of life (HRQL) measured with the SF-8 questionnaire. Postoperative data were collected after 2 years. Results Follow-up was completed for 37 of 40 patients. ICP was increased in 80.5% of the compartments examined before surgery, but did not correlate with the degree of leg pain. The remaining compartments were diagnosed as CCS based on clinical findings, despite ICPs below the threshold. Leg cramps occurred in 32 of 37 (86.5%) patients during physical activity and at night. Leg pain improved from a score of 8.0?±?1.5 to 2.3?±?2.1, P?

2013-01-01

72

Antiphospholipid Antibody Syndrome Associated with Graves' Disease Presenting As Inferior Vena Cava Thrombosis with Bilateral Lower Limb DVT  

PubMed Central

We report a case of a 60-year-old lady who presented with bilateral lower limb swelling and a thyroid swelling with clinical features consistent with thyrotoxicosis. Investigations revealed the presence of a thrombus in bilateral external, internal iliac veins, and inferior vena cava extending up to its infrahepatic part. Hormone profile and radioiodine uptake scan confirmed the diagnosis of Graves’ disease. Further workup revealed the presence of antiphospholipid antibodies (confirmed after a repeat test at 12 weeks). The patient was treated with antithyroid drugs and anticoagulants. The patient improved with normalization of thyroid function and partial recanalization of the infrahepatic part of inferior vena cava. Hyperthyroidism has been implicated as a potential hypercoagulable state; however, the association of Graves’ disease with antiphospholipid antibody syndrome is limited to isolated case reports. This case highlights a new mechanism underlying hypercoagulability associated with Graves’ disease. PMID:24812529

Jain, Ankur

2014-01-01

73

[Sipple syndrome (bilateral phaeochromocytoma medullary C-cell carcinoma of the thyroid gland) with exceptionally prolonged clinical course].  

PubMed

The sporadic occurrence of the Sipple syndrome with bilateral phaeochromocytoma and medullary thyroid carcinoma is a well-known pathological entity. The present report refers to a patient with medullary thyroid carcinoma, initially misdiagnosed as Hurthle-cell adenoma after partial resection of the thyroid gland. 5 and 8 years later the patient underwent bilateral adrenalectomy for phaeochromocytoma. 4 years after the second phaeochromocytoma a palpable thyroid nodule developed, thyroidectomy was performed and the tumour diagnosed as a medullary thyroid carcinoma. This diagnosis was confirmed by reexamination of the histological specimens obtained during the first surgical intervention. We were prompted to report the current case history, because of the protracted course of the medullary thyroid carcinoma in this patient and to point out the value of the determination of pentagastrin stimulated calcitonin values in patients with medullary thyroid carcinoma for diagnosis, postoperative follow-up and in family screening studies. PMID:6127842

Kovarik, J; Silberbauer, K; Woloszczuk, W; Krisch, K; Geyer, G

1982-06-25

74

Worster-Drought and congenital perisylvian syndromes—a continuum?  

Microsoft Academic Search

A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction

Yoram Nevo; Yoram Segev; Yehudit Gelman; Irith Rieder-Grosswasser; Shaul Harel

2001-01-01

75

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy.  

PubMed

Mutation of the Wilms tumor gene (WT1) is associated with two well-described syndromes called Denys-Drash (DDS) and Frasier (FS). Both are associated with nephropathy and ambiguous genitalia and have overlapping clinical and molecular features. The known risk of Wilms tumor in DDS and gonadoblastoma (GB) in FS patients requires tumor surveillance. The literature reports the occurrence of GB in DDS as lower than FS. This case highlights a very early presentation of bilateral GB in DDS and the consideration of early prophylactic gonadectomy at the time of diagnosis with DDS. PMID:23729537

Patel, Payal R; Pappas, John; Arva, Nicoleta C; Franklin, Bonita; Brar, Preneet Cheema

2013-01-01

76

Spontaneous Bilateral Corneal Perforation in Stevens- Johnsons Syndrome-A Challenge in Management  

PubMed Central

A 42-year-old man from Ghana presented with bilateral painful corneal perforations following ingestion of a sulphur-based antibiotic. Emergency bilateral penetrating keratoplasty was performed, with restoration of globe integrity. However, surgical complications arose such as non-healing epithelial defect, secondary infection, graft dehiscence, and mounting intraocular pressure. This case illustrates the challenges faced in managing corneal grafts in patients with already compromised ocular surfaces. PMID:23785259

Md Noh, Umi Kalthum; Then, Kong Yong

2013-01-01

77

Spontaneous bilateral corneal perforation in stevens- johnsons syndrome-a challenge in management.  

PubMed

A 42-year-old man from Ghana presented with bilateral painful corneal perforations following ingestion of a sulphur-based antibiotic. Emergency bilateral penetrating keratoplasty was performed, with restoration of globe integrity. However, surgical complications arose such as non-healing epithelial defect, secondary infection, graft dehiscence, and mounting intraocular pressure. This case illustrates the challenges faced in managing corneal grafts in patients with already compromised ocular surfaces. PMID:23785259

Md Noh, Umi Kalthum; Then, Kong Yong

2013-01-01

78

Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV.  

PubMed

Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50 year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications. PMID:22559935

Dohle, C; Baehring, J M

2012-07-15

79

Good visual outcome in an immunocompromised patient with bilateral acute retinal necrosis syndrome: A case report  

PubMed Central

Acute retinal necrosis (ARN) is an uncommon necrotizing, fulminant retinopathy caused by the herpes simplex virus types 1 or 2 or by the varicella zoster vírus with visually devastating consequences. Generally it occurs in patients who are systemically healthy, but occasionally occurs in immunocompromised host. We report a case of bilateral ARN in a patient with AIDS with a good final visual outcome. PMID:25278806

Marrocos de Aragao, Ricardo E.; Barreira, Ieda M.A.; Arrais, Barbara L.A.; Pereira, Leidiane A.; Ramos, Carine S.

2013-01-01

80

Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome.  

PubMed

Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder characterized by an aged face, wrinkled skin, decreased subcutaneous fat, and neonatal teeth. The authors describe herein a 2-month-old infant with NPS who underwent eyelid surgery for bilateral upper eyelid entropion and stromal keratitis. The preoperative examination revealed thin, narrow, and soft tarsal plates. The eyelids were large and floppy, and there was no preaponeurotic fat tissue. The entropion was successfully treated by the levator muscle advancing onto the tarsus, anterior lamellar repositioning, horizontal eyelid shortening, and canthal resuspension. Upper eyelid entropion may occur relatively frequently in infants with NPS, and the special anatomical features of the eyelid should be considered while performing entropion surgery. PMID:24807800

Yazc, Bülent; Toka, Fatih; Cömez, Arzu T

2014-01-01

81

An unusual case of bilateral subclavian-carotid artery graft occlusion with coronary steal syndrome managed in the cath lab.  

PubMed

A 65-year-old man, s/p coronary bypass surgery (CABG) with left internal mammary artery (LIMA) to the left anterior descending (LAD) artery 12 years previously, presented to his local hospital with left upper extremity pain, dizziness, falls, and chest pain. At the outside hospital, a proximal total left subclavian occlusion was found and the patient underwent left subclavian artery to common carotid artery (SCA-CCA) bypass surgery. Shortly thereafter, the patient developed right subclavian thrombosis, and underwent right SCA-CCA bypass surgery. Twenty days later, coronary steal symptoms recurred; troponin levels were elevated and ultrasound exam revealed bilateral SCA-CCA graft occlusion. The patient was then transferred to a tertiary care facility with a diagnosis of non-ST elevation myocardial infarct (NSTEMI). A successful endovascular procedure was performed in the cardiac catheterization laboratory with the use of coronary chronic total occlusion (CTO) devices, to treat the coronary steal syndrome. PMID:23293182

Wisneski, Andrew D; Beyer, Anna T; Shunk, Kendrick A

2013-01-01

82

Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma  

PubMed Central

Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism in which mullerian duct derivatives are present in an otherwise normally differentiated 46 XY male. We report a case of a 33-year-old male with PMDS operated for postchemotherapy seminoma. A diagnosis of PMDS was made on subsequent histopathological evaluation. PMID:23162363

Chamrajan, Shrinivasan; Vala, Nidhi H; Desai, Jatin R; Bhatt, Niraj N

2012-01-01

83

Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats.  

PubMed

Background We aimed to investigate whether varicocele (VC) in rats can cause Sertoli cell-only syndrome (SCOS). Material and Methods Forty adolescent SD rats were randomly divided into 4 groups: 4-weeks control group, 4-weeks experimental group, 12-weeks control group, and 12-weeks experimental group. Left varicocele models were introduced by partially ligating left kidney veins for the experimental groups, and the sham surgery groups as controls were executed with exactly the same surgery as in the experimental groups except for the ligation. Rats in control and experimental groups for 4 and 12 weeks were killed after laparotomy at 4 and 12 weeks, respectively, the testes were taken out and fixed in fixative containing 4% polyformaldehyde, then were stained by hematoxylin and eosin (HE). The density and viability of sperm were analyzed by computer-aided sperm analysis. Results Compared with rats in 4-weeks and 12-weeks control group, histological structures of bilateral testes in both experimental groups were impaired, most of them showing as focal focuses. The pathological changes of testes in rats of the 12-weeks experimental group were bilateral, and included atrophy of seminiferous tubules, turbulence of spermatogenic cells in seminiferous tubules, defluvium of most spermatogenic cells, abortion of spermatogenesis, and degradation of spermatogenic epithelia. One rat in the 12-weeks experimental group was shown having SCOS, with the spermatogenic cells in seminiferous tubules completely flaked, degraded, or absent, and only Sertoli cells lined the seminiferous tubules. Conclusions Laboratory VC caused progressive impairment of homolateral testes, and SCOS could be induced when the damage was severe. Our results indicate that asthenozoospermia, azoospermia, and SCOS can be prevented by the earlier treatment of VC. PMID:25313556

Liu, Jianjun; Ding, Degang; Liu, Jie

2014-01-01

84

Varicocele-Caused Progressive Damage in Bilateral Testis and Sertoli Cell-Only Syndrome in Homolateral Testis in Rats  

PubMed Central

Background We aimed to investigate whether varicocele (VC) in rats can cause Sertoli cell-only syndrome (SCOS). Material/Methods Forty adolescent SD rats were randomly divided into 4 groups: 4-weeks control group, 4-weeks experimental group, 12-weeks control group, and 12-weeks experimental group. Left varicocele models were introduced by partially ligating left kidney veins for the experimental groups, and the sham surgery groups as controls were executed with exactly the same surgery as in the experimental groups except for the ligation. Rats in control and experimental groups for 4 and 12 weeks were killed after laparotomy at 4 and 12 weeks, respectively, the testes were taken out and fixed in fixative containing 4% polyformaldehyde, then were stained by hematoxylin and eosin (HE). The density and viability of sperm were analyzed by computer-aided sperm analysis. Results Compared with rats in 4-weeks and 12-weeks control group, histological structures of bilateral testes in both experimental groups were impaired, most of them showing as focal focuses. The pathological changes of testes in rats of the 12-weeks experimental group were bilateral, and included atrophy of seminiferous tubules, turbulence of spermatogenic cells in seminiferous tubules, defluvium of most spermatogenic cells, abortion of spermatogenesis, and degradation of spermatogenic epithelia. One rat in the 12-weeks experimental group was shown having SCOS, with the spermatogenic cells in seminiferous tubules completely flaked, degraded, or absent, and only Sertoli cells lined the seminiferous tubules. Conclusions Laboratory VC caused progressive impairment of homolateral testes, and SCOS could be induced when the damage was severe. Our results indicate that asthenozoospermia, azoospermia, and SCOS can be prevented by the earlier treatment of VC. PMID:25313556

Liu, Jianjun; Ding, Degang; Liu, Jie

2014-01-01

85

Fibrolipomatous hamartoma of the median nerve: A cause of acute bilateral carpal tunnel syndrome in a three-year-old child: A case report and comprehensive literature review.  

PubMed

A three-year-old boy was investigated for inexplicable incessant crying. On examination, his left wrist was mildly swollen (three to four months) and sensitive. Exploration and carpal tunnel decompression of the left wrist with incisional biopsy was performed for the presence of a fusiform swelling intimately associated with the median nerve. Histopathology revealed the presence of enlarged nerve bundles admixed with mature fat cells and diffuse fibroblastic proliferation. Three months later, he underwent urgent contralateral carpal tunnel decompression for a similar presentation. The final diagnosis was bilateral fibrolipomatous hamartoma (FLH) of the median nerves causing acute bilateral compression neuropathy. FLH of the median nerve is an extremely unusual cause of acute bilateral carpal tunnel syndrome in a young child presenting with 'incessant crying'. A comprehensive review of FLH including epidemiology, etiology, clinical presentation, differential diagnosis, imaging, pathology, treatment and prognosis is discussed. PMID:25332651

Senger, Jenna-Lynn; Classen, Dale; Bruce, Garth; Kanthan, Rani

2014-01-01

86

POST-SURGICAL REHABILITATION FOLLOWING FASCIOTOMIES FOR BILATERAL CHRONIC EXERTIONAL COMPARTMENT SYNDROME IN A SPECIAL FORCES SOLDIER: A CASE REPORT  

PubMed Central

Background and Purpose: The etiology of Chronic Exertional Compartment Syndrome (CECS) is still unclear. The most commonly accepted theory suggests that it is a transient but debilitating process where there is an abnormally increased intracompartmental pressure during exercise/exertion due to non?compliant expansion of the osteofascial tissues. This most commonly occurs in the lower leg. Surgical intervention is often performed for symptom relief. However, there has been limited scientifically?based publication on post?surgical rehabilitation, especially with regard to return to function in the military population. The purpose of this case report is to demonstrate the utilization of a recommended post?operative protocol in a Special Forces Soldier. Case Description: The subject presented as a 25?year?old US Army Special Forces Soldier, who failed 8 weeks of conservative management for the diagnosis of CECS and subsequently underwent bilateral lower leg fasciotomies of the anterior and lateral compartments. Outcomes: Following recommended protocol guidelines he was progressed rapidly and within three months deployed without restriction or complications in a demanding combat zone. Discussion: This case report illustrates that following clearly defined, scientifically?based rehabilitation guidelines helped in addressing all of the involved structures and musculoskeletal dysfunctions that presented following the surgical intervention for CECS in a unique subject. Level of Evidence: 5 PMID:24175149

Miller, Joseph

2013-01-01

87

[A case of Sipple syndrome whose bilateral pheochromocytomas were resected separately after a 3-year interval].  

PubMed

A 23-year-old woman who had undergone total thyroidectomy and parabronchial lymphadenectomy at the Department of Otolaryngology in our hospital was suspected to have a thyroid carcinoma. Histological examination revealed a medullary carcinoma of the thyroid and normal parathyroid glands. Because a computed tomographic scan after surgery revealed a tumor of the left adrenal gland, the patient was examined at our department two months after the thyroidectomy, 1994. Endocrinic examinations and 123I-MIBG scintigraphy revealed a left adrenal pheochromocytoma of Sipple syndrome. She then underwent left adrenalectomy. Histological diagnosis was pheochromocytoma of the left adrenal gland. Three years after the surgery, a right adrenal tumor was detected by computed tomography. Although results of endocrine examinations were normal, 131I-MIBG scintigraphy showed a hot spot in the right adrenal gland. Right adrenal pheochromocytoma was diagnosed 3 years after surgery for a contralateral adrenal pheochromocytoma. Although surgery was recommended, the patient consented to right adrenalectomy, 1 year later after marriage and before becoming pregnant. Histological examination of the resected specimen revealed pheochromocytoma of the right adrenal gland. PMID:10845156

Kimura, T; Ikemoto, I; Furuta, N; Ohishi, Y

2000-04-01

88

Failure to Demonstrate Selective Deficit in the Native Language Following Surgery to the Left Perisylvian Area  

Microsoft Academic Search

Gomez-Tortosa, Martin, Gaviria, Charbel, and Ausman (1995) reported a case of a Spanish–English bilingual with a left perisylvian arteriovenous malformation that was surgically resected. They claimed that, following the surgery, the patient showed a selective deficit in her native Spanish. Statistical analysis of the data in the report provides no support for this claim.

Terence M. Hines

1996-01-01

89

Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature.  

PubMed

Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner's syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC) is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars. PMID:23230374

Kasat, Vikrant O; Saluja, Harish; Kalburge, Jitendra V; Kini, Yogesh; Nikam, Atul; Laddha, Ruchi

2012-09-01

90

Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature  

PubMed Central

Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner's syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC) is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars. PMID:23230374

Kasat, Vikrant O.; Saluja, Harish; Kalburge, Jitendra V.; Kini, Yogesh; Nikam, Atul; Laddha, Ruchi

2012-01-01

91

Areas of left perisylvian cortex mediate auditory-verbal short-term memory  

PubMed Central

A contentious issue in memory research is whether verbal short-term memory (STM) depends on a neural system specifically dedicated to the temporary maintenance of information, or instead relies on the same brain areas subserving the comprehension and production of language. In this study, we examined a large sample of adults with acquired brain lesions to identify the critical neural substrates underlying verbal STM and the relationship between verbal STM and language processing abilities. We found that patients with damage to selective regions of left perisylvian cortex—specifically the inferior frontal and posterior temporal sectors—were impaired on auditory-verbal STM performance (digit span), as well as on tests requiring the production and/or comprehension of language. These results support the conclusion that verbal STM and language processing are mediated by the same areas of left perisylvian cortex. PMID:21945329

Koenigs, Michael; Acheson, Daniel; Barbey, Aron; Solomon, Jeffrey; Postle, Bradley R.; Grafman, Jordan

2011-01-01

92

Perfusion Imaging of the Right Perisylvian Neural Network in Acute Spatial Neglect  

PubMed Central

Recent studies have suggested a tightly connected perisylvian neural network associated with spatial neglect. Here we investigated whether structural damage in one part of the network typically is accompanied with functional damage in other, structurally intact areas of this network. By combining normalized fluid-attenuated inversion-recovery (FLAIR) imaging, diffusion-weighted imaging (DWI), and perfusion-weighted imaging (PWI) we asked whether or not lesions centering on fronto-temporal regions co-occur with abnormal perfusion in structurally intact parietal cortex. With thresholds applied to delineate behaviourally relevant malperfusion of brain tissue, the analysis of normalized time-to-peak (TTP) and maximal signal reduction (MSR) perfusion maps did not reveal significant changes outside the area of structural damage. In particular, we found no abnormal perfusion in the structurally intact inferior parietal lobule (IPL) and/or the temporo-parietal junction (TPJ). The present results obtained in three consecutively admitted neglect patients with fronto-temporal lesions indicate that structural damage in one part of the right perisylvian network associated with spatial neglect does not necessarily require dysfunction by malperfusion in other, structurally intact parts of the network to provoke spatial neglect. The neural tissue in the fronto-temporal cortex appears to have an original role in processes of spatial orienting and exploration. PMID:19680470

Zopf, Regine; Berger, Monika Fruhmann; Klose, Uwe; Karnath, Hans-Otto

2009-01-01

93

CAD\\/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping  

Microsoft Academic Search

Ear defects in patients affected by Treacher Collins syndrome necessitate the replacement of the existing anatomic residuals of the ears with custom-made prostheses. This paper describes a multidisciplinary protocol involving both medicine and computer-aided design\\/computer-aided manufacturing for manufacturing ear prostheses. Using innovative prototyping technologies together with conventional silicone processing procedures, a step-by-step procedure is presented. The complete workflow includes laser

Leonardo Ciocca; Francesca De Crescenzio; Massimiliano Fantini; Roberto Scotti

2010-01-01

94

CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping.  

PubMed

Ear defects in patients affected by Treacher Collins syndrome necessitate the replacement of the existing anatomic residuals of the ears with custom-made prostheses. This paper describes a multidisciplinary protocol involving both medicine and computer-aided design/computer-aided manufacturing for manufacturing ear prostheses. Using innovative prototyping technologies together with conventional silicone processing procedures, a step-by-step procedure is presented. The complete workflow includes laser scanning of the defective regions of a patient's face, the use of 3D anatomic models from an ear digital library and rapid prototyping of both substructures for bar anchoring and moulds for silicone processing. PMID:19844817

Ciocca, Leonardo; De Crescenzio, Francesca; Fantini, Massimiliano; Scotti, Roberto

2010-06-01

95

Bilateral gustatory sweating in the submandibular region after bilateral neck dissection successfully treated with botulinum toxin.  

PubMed

Gustatory sweating (or chorda tympani syndrome) in the submandibular region is a rare complication of cervical surgery. We report a 66-year-old patient who had been referred for the management of a squamous cell carcinoma of the mobile tongue. She was treated by bilateral neck dissection and bilateral resection of the submandibular glands. Bilateral gustatory sweating in the submandibular region developed 10 years later and was successfully treated with bilateral injections of botulinum toxin type A. PMID:24996697

Philouze, Pierre; Vertu, Delphine; Ceruse, Philippe

2014-10-01

96

Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction.  

PubMed

A 29-year-old woman presented with symptoms of gradual, progressive, painless diminution of vision in both eyes for past 8-10?years. On examination, uncorrected visual acuity was 20/60 in the right eye and 20/126 in the left eye. Anterior segment examination was essentially normal except for a conical protrusion in the pupillary axis of the anterior lens capsule with a clear underlying lens. During surgery, central protruded fragile lens capsule was meticulously handled to create well-centered continuous curvilinear capsulorhexis by using paediatric rhexis forceps. Histopathology of excised capsule showed markedly thinned lens capsule with normal epithelium. Electron microscopy of the anterior lens capsule showed multiple linear and irregular zones of dehiscence. Few of these had fibrillar, irregular electron-dense material and vacuoles; and adjacent cells were irregular suggestive of Alport syndrome. Postoperative course was uneventful and visual acuity improved to 20/20 unaided. Clear lens extraction is an effective means of rehabilitating visually symptomatic anterior lenticonus of Alport syndrome. PMID:24969069

Sonarkhan, Shilpa; Ramappa, Muralidhar; Chaurasia, Sunita; Mulay, Kaustubh

2014-01-01

97

Am. J. Hum. Genet. 70:10031008, 2002 A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28  

E-print Network

for Child Health, London; and 8 Children's Neuroscience Center and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia Polymicrogyria (PMG) is one of a large group, 2001; accepted for publication January 2, 2002; electronically published January 29, 2002. Address

Cossart, Rosa

98

Bilateral Leydig cell tumor in a six-year-old intersex goat affected by Polled Intersex Syndrome.  

PubMed

A 6-year-old, sterile, Blanca Celtibérica breed adult doe was referred to our faculty. The doe had external female genitalia, a short anogenital distance, and normally shaped udders. Masculinization signs in the head shape and male behavior were also noted at the time of referral. Genetic analysis demonstrated normal 2n = 60 XX karyotype and an absence of the sex-determining region Y (SRY). The animal was homozygous for a DNA deletion responsible for the Polled Intersex Syndrome (PIS). A uterus and 2 uterine horns were present at the postmortem examination. Gartner's ducts and degenerated Wolffian derivatives persisted. There were 2 intra-abdominal testicle-like structures, one of which consisted of epididymal and deferent ducts. An advanced Leydig cell tumor, resulting in almost total destruction of the intratesticular structures, was also observed. Leydig cell tumors usually produce testosterone. Thus, these histologic findings are compatible with the evident virilization. PMID:18192573

Monteagudo, L V; Arruga, M V; Bonafonte, J I; Ordás, M; Whyte, A; Gallego, M; Bascuas, J A; Sierra, I

2008-01-01

99

Segregation of Lexical and Sub-Lexical Reading Processes in the Left Perisylvian Cortex  

PubMed Central

A fundamental issue in cognitive neuroscience is the existence of two major, sub-lexical and lexical, reading processes and their possible segregation in the left posterior perisylvian cortex. Using cortical electrostimulation mapping, we identified the cortical areas involved on reading either orthographically irregular words (lexical, “direct” process) or pronounceable pseudowords (sublexical, “indirect” process) in 14 right-handed neurosurgical patients while video-recording behavioral effects. Intraoperative neuronavigation system and Montreal Neurological Institute (MNI) stereotactic coordinates were used to identify the localization of stimulation sites. Fifty-one reading interference areas were found that affected either words (14 areas), or pseudo-words (11 areas), or both (26 areas). Forty-one (80%) corresponded to the impairment of the phonological level of reading processes. Reading processes involved discrete, highly localized perisylvian cortical areas with individual variability. MNI coordinates throughout the group exhibited a clear segregation according to the tested reading route; specific pseudo-word reading interferences were concentrated in a restricted inferior and anterior subpart of the left supramarginal gyrus (barycentre x?=??68.1; y?=??25.9; z?=?30.2; Brodmann’s area 40) while specific word reading areas were located almost exclusively alongside the left superior temporal gyrus. Although half of the reading interferences found were nonspecific, the finding of specific lexical or sublexical interferences is new evidence that lexical and sublexical processes of reading could be partially supported by distinct cortical sub-regions despite their anatomical proximity. These data are in line with many brain activation studies that showed that left superior temporal and inferior parietal regions had a crucial role respectively in word and pseudoword reading and were core regions for dyslexia. PMID:23226349

Roux, Franck-Emmanuel; Durand, Jean-Baptiste; Jucla, Melanie; Rehault, Emilie; Reddy, Marion; Demonet, Jean-Francois

2012-01-01

100

Bilateral Sertoli and Interstitial Cell Tumours in Abdominal Testes of a Goat with Polled Intersex Syndrome (PIS).  

PubMed

An 8-year-old, mixed breed, polled goat was presented for evaluation of male-like behaviour. Clinical findings included clitoromegaly, a heavily muscled neck, pronounced beard, and erect dorsal guard hairs, which are phenotypic characteristics commonly observed in intersex animals. Transrectal ultrasonography revealed the presence of two abdominal masses caudolateral to the uterine horns. Serum concentration of estradiol was elevated. Genetic evaluation was compatible with polled intersex syndrome defined by an XX karyotype without a Y chromosome or SRY gene. Based on gross and histologic evaluation, the abdominal masses were determined to be intra-abdominal testes, each of which was effaced by Sertoli cell and interstitial (Leydig) cell tumours. The Sertoli cell tumours (SCTs) represented two unique histologic patterns. Regardless of pattern, neoplastic Sertoli cells were consistently lipid laden and positive for vimentin. Interstitial cell tumours (ICTs) were negative for vimentin. Clinical and histopathologic findings suggest that prolonged exposure to steroids secreted by neoplastic Sertoli cells contributed to virilization. In addition, results from immunohistochemistry indicated that vimentin may be a valuable immunodiagnostic tool for differentiation between interstitial and Sertoli cell tumours in goats. PMID:25219569

Canisso, If; Coffee, Ll; Ortved, K; Fubini, Sl; Monteagudo, Lv; Schlafer, Dh; Gilbert, Ro

2014-12-01

101

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.  

PubMed Central

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition. PMID:9973297

Seri, M; Cusano, R; Forabosco, P; Cinti, R; Caroli, F; Picco, P; Bini, R; Morra, V B; De Michele, G; Lerone, M; Silengo, M; Pela, I; Borrone, C; Romeo, G; Devoto, M

1999-01-01

102

Reversible parainfectious bilateral "striatal necrosis".  

PubMed

Bilateral striatal necrosis is usually associated with either endogenous or exogenous toxins, and with poor neurodevelopmental outcomes. We describe two patients with acute bilateral striatal clinical syndrome and magnetic resonance signal changes who made a complete clinical and radiologic recovery within 3 months. After an uneventful pregnancy, normal birth, and normal development, both boys presented at ages 3 and 5 years, respectively, after a viral illness with slurring of speech, bradykinesia, and an extrapyramidal movement disorder. On examination, both manifested bilateral cog wheel rigidity, with a broad-based gait and flexor plantar response. Cranial magnetic resonance imaging in both children indicated bilateral, symmetric, high signal changes in the lentiform nucleus, predominately in the putamen, with sparing of the globus pallidi bilaterally. The brain parenchyma was otherwise normal. Neurometabolic investigations produced normal results in both patients. The pathogenesis is uncertain, but could be immune-mediated. Both children, at 3-year and 1-year follow-ups, respectively, are doing well neurologically and academically. Our patients demonstrate that abnormal imaging findings during acute stages do not preclude good clinical and radiologic recovery. PMID:22196494

Nandish, Shalini; Khan, Rafeh; Connolly, Daniel J; Rittey, Christopher D; Mordekar, Santosh R

2012-01-01

103

Decreased left perisylvian GABA concentration in children with autism and unaffected siblings.  

PubMed

Imbalanced levels of excitation and inhibition (E/I) have been proposed to account for various behavioral and electrophysiological phenotypes in autism. Although proton magnetic resonance spectroscopy ((1)H-MRS) studies have been published on various metabolite levels in autism, including glutamate, the major excitatory neurotransmitter, few (1)H-MRS studies have yet been conducted the major inhibitory neurotransmitter GABA. Seventeen individuals with autism spectrum disorders (ASD) participated in a single-voxel, point resolved spectroscopy (PRESS) study conducted on a 3T magnet. Data were also acquired on 14 unaffected siblings of children with autism, and 17 age- and gender-matched healthy control subjects. GABA concentration was measured along with Creatine (Cr) in a single voxel aligned with the auditory cortex in the perisylvian region of the left hemisphere. The ratio of GABA to Cr was significantly lower in the ASD group than the control subjects. Siblings also exhibited lower GABA/Cr ratios compared to controls. Cr concentration did not differ between groups. The volumes of gray matter, white matter and CSF did not differ between groups in the whole brain or within the spectroscopy voxel. Reduced auditory GABA concentration in ASD is consistent with one previous MRS study of GABA concentration in the frontal lobe in autism, suggesting that multiple neocortical areas may be involved. Lower GABA levels are consistent with theories of ASD as a disorder involving impaired inhibitory neurotransmission and E/I imbalance. The reduction in unaffected siblings suggests that it may be a heritable biomarker, or endophenotype, of autism. PMID:23370056

Rojas, Donald C; Singel, Debra; Steinmetz, Sarah; Hepburn, Susan; Brown, Mark S

2014-02-01

104

Case report: Three-trocar technique for bilateral laparoscopic nephropexy.  

PubMed

Nephroptosis is a rare syndrome, which affects the right kidney in the majority of cases. In the current report, a case of bilateral nephroptosis with an unusual presentation is presented. We performed bilateral laparoscopic nephropexy using a three-trocar approach. The intervention was successful, with a short operative time and minimal blood loss. The clinical presentation of our patient and the surgical technique for bilateral laparoscopic nephropexy are described. PMID:17263609

Chekulaev, Dimitri; Dayma, Thierry; Abecassis, Jean-Paul; Peyromaure, Michaël

2007-01-01

105

Bilateral adrenal lesions.  

PubMed

Bilateral adrenal lesions include a spectrum of disorders: neoplastic disorders (metastases, lymphoma, bilateral phaeochromocytoma, adrenocortical carcinoma and myelolipoma); longstanding congenital adrenal hyperplasia and macronodular adrenal hyperplasia; infections such as tuberculosis, histoplasmosis and blastomycosis; adrenal haemorrhage; adrenals in hypoperfusion complex and paediatric masses. Bilateral distribution in addition to other imaging characteristics can help narrow differential diagnoses in case of adrenal masses. We present a pictorial review highlighting the adrenal lesions that can present bilaterally. PMID:23210583

Gupta, Pankaj; Bhalla, Ashu; Sharma, Raju

2012-12-01

106

Bilateral dacryoceles associated with bilateral alacrimia with punctal and canalicular agenesis  

PubMed Central

To report a rare case of a 19 year old female presenting with bilateral dacryocele and punctal and canalicular agenesis without epiphora. After clinical and radiological examination, the patient was found to have bilateral lacrimal gland agenesis as well. No other dental, otological or systemic abnormality suggestive of lacrimo-auricular-dento-digital syndrome was detected. She was managed with bilateral dacryocystectomy. Algorithm for managing such nonconventional lacrimal outflow dysgenesis based on presenting symptoms and co existing epiphora is proposed. Rationale of preferring lacrimal sac excision instead of dacryocystorhinostomy in this case is also discussed. PMID:24526864

Gupta, Himika; Kane, Shubhada; Balasubramaniam, Vidyashankar

2013-01-01

107

Traumatic bilateral vertebral artery dissection.  

PubMed

Traumatic vertebral artery dissection is not often seen by forensic pathologists, and cases investigated are scarce in the forensic literature. We present the case of a 40-year-old woman cyclist who was struck by a car while wearing a helmet, and was neurologically near normal immediately thereafter at Emergency. She presented 48 h later with acute right hemiparesis, decreasing level of consciousness, and unsteadiness. CT revealed massive cerebellar infarction. CT angiography was normal. The patient died in coma 7 days after injury and autopsy revealed bilateral edematous cerebellar infarction and bilateral vertebral artery dissection. Rotational neck injury and mural tear in the wall of the Atlantic parts of both vertebral arteries is suggested as the possible mechanism of the arterial injury. Head and neck injuries are reported as a precipitating cause of vertebral artery injury. The possible influence of trauma may be further underestimated if longer intervals between vessel dissection and ischemia occur. The current case illustrates that "talk-and-die" syndrome may be due to occult vertebral artery dissection, possibly bilateral. In forensic cases of delayed death after mild trauma to the head and neck, the vertebral arteries should be examined for the cause of death. PMID:21798679

Galtés, Ignasi; Borondo, Juan Carlos; Cos, Mňnica; Subirana, Mercč; Martin-Fumadó, Carles; Martín, Carles; Castellŕ, Josep; Medallo, Jordi

2012-01-10

108

Early Identification of Cushing's Syndrome in Children  

MedlinePLUS

... bilateral nodular adrenal disease may have periodic or “cyclic” Cushing’s syndrome. Bilateral nodular adrenal disease may be ... Violaceous skin striae 63 Acne 52 Hypertension 51 Fatigue-weakness 45 Precocious puberty 41 Bruising 27 Mental ...

109

Foreign accent syndrome as the initial sign of primary progressive aphasia.  

PubMed

Foreign accent syndrome (FAS) is a rare speech disorder characterised by the emergence of a new accent, perceived by listeners as foreign. FAS has usually been described following focal brain insults, such as stroke. We describe the unusual case of a woman presenting with FAS as the earliest symptom of progressive degenerative brain disease. At presentation, she showed no language or other cognitive impairment, and functional and structural brain imaging were normal. Follow-up 1 year later revealed the emergence of mild expressive language problems. Repeat functional neuroimaging showed mild hypoperfusion of the perisylvian speech area of the left hemisphere, and structural imaging showed mild left perisylvian atrophy. We interpret the case as an unusual presentation of primary progressive non-fluent aphasia. The case provides further evidence of the variable and circumscribed nature of the clinical presentation of focal cerebral degeneration. PMID:17635973

Luzzi, S; Viticchi, G; Piccirilli, M; Fabi, K; Pesallaccia, M; Bartolini, M; Provinciali, L; Snowden, J S

2008-01-01

110

[Pregnancy following bilateral salpingectomy].  

PubMed

This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy was unwanted, and the woman decided to terminate the pregnancy. She was offered diagnostic examination to localise a potential fistula, but she declined. In a MEDLINE search of English literature this is only the second case of spontaneous pregnancy following bilateral salpingectomy. PMID:18462619

Bang, Anne

2008-04-21

111

Bilateral lunate intraosseous ganglia.  

PubMed

An intraosseous ganglion is a relatively uncommon, benign cystic lesion that occurs in young and middle-aged adults. Bilateral and symmetrical lesions of the wrist are rare. Intraosseous ganglia of the carpal bones are uncommon causes of chronic wrist pain. Isolated cases of intraosseous ganglion have been reported most commonly in the lunate and scaphoid. The lunate was most frequently affected, followed by the capitate, scaphoid, and triquetrum bones. Radiolucent lesions in the carpal bones are not uncommon and are often seen incidentally in asymptomatic patients. The differential diagnosis of a lytic lesion in a carpal bone includes unicameral bone cyst, degenerative cyst, fibrous developmental defect, osteomyelitis, and intraosseous ganglion cyst. This article describes a case of bilateral lunate intraosseous ganglia. A review of the literature revealed that bilateral and symmetrical intraosseous ganglia of the wrist are rare, with only 3 other reported cases of bilateral lunate lesions. PMID:20608626

Kural, Cemal; Sungur, Ibrahim; Cetinus, Ercan

2010-07-01

112

Echinoderms Have Bilateral Tendencies  

PubMed Central

Echinoderms take many forms of symmetry. Pentameral symmetry is the major form and the other forms are derived from it. However, the ancestors of echinoderms, which originated from Cambrian period, were believed to be bilaterians. Echinoderm larvae are bilateral during their early development. During embryonic development of starfish and sea urchins, the position and the developmental sequence of each arm are fixed, implying an auxological anterior/posterior axis. Starfish also possess the Hox gene cluster, which controls symmetrical development. Overall, echinoderms are thought to have a bilateral developmental mechanism and process. In this article, we focused on adult starfish behaviors to corroborate its bilateral tendency. We weighed their central disk and each arm to measure the position of the center of gravity. We then studied their turning-over behavior, crawling behavior and fleeing behavior statistically to obtain the center of frequency of each behavior. By joining the center of gravity and each center of frequency, we obtained three behavioral symmetric planes. These behavioral bilateral tendencies might be related to the A/P axis during the embryonic development of the starfish. It is very likely that the adult starfish is, to some extent, bilaterian because it displays some bilateral propensity and has a definite behavioral symmetric plane. The remainder of bilateral symmetry may have benefited echinoderms during their evolution from the Cambrian period to the present. PMID:22247765

Zhao, Wenchan; Wang, Sishuo; Lv, Jianhao

2012-01-01

113

A case presentation of bilateral simultaneous Bell’s palsy  

Microsoft Academic Search

Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell’s category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell’s palsy, leukemia, sarcoidosis, bacterial

Rahmi Kilic; Ali Ozdek; Sevim Felek; M. Asim Safak; Erdal Samim

2003-01-01

114

Somato-Motor Haptic Processing in Posterior Inner Perisylvian Region (SII/pIC) of the Macaque Monkey  

PubMed Central

The posterior inner perisylvian region including the secondary somatosensory cortex (area SII) and the adjacent region of posterior insular cortex (pIC) has been implicated in haptic processing by integrating somato-motor information during hand-manipulation, both in humans and in non-human primates. However, motor-related properties during hand-manipulation are still largely unknown. To investigate a motor-related activity in the hand region of SII/pIC, two macaque monkeys were trained to perform a hand-manipulation task, requiring 3 different grip types (precision grip, finger exploration, side grip) both in light and in dark conditions. Our results showed that 70% (n?=?33/48) of task related neurons within SII/pIC were only activated during monkeys’ active hand-manipulation. Of those 33 neurons, 15 (45%) began to discharge before hand-target contact, while the remaining neurons were tonically active after contact. Thirty-percent (n?=?15/48) of studied neurons responded to both passive somatosensory stimulation and to the motor task. A consistent percentage of task-related neurons in SII/pIC was selectively activated during finger exploration (FE) and precision grasping (PG) execution, suggesting they play a pivotal role in control skilled finger movements. Furthermore, hand-manipulation-related neurons also responded when visual feedback was absent in the dark. Altogether, our results suggest that somato-motor neurons in SII/pIC likely contribute to haptic processing from the initial to the final phase of grasping and object manipulation. Such motor-related activity could also provide the somato-motor binding principle enabling the translation of diachronic somatosensory inputs into a coherent image of the explored object. PMID:23936121

Ishida, Hiroaki; Fornia, Luca; Grandi, Laura Clara; Umiltŕ, Maria Alessandra; Gallese, Vittorio

2013-01-01

115

Embarazo ectópico bilateral espontáneo  

Microsoft Academic Search

Spontaneous bilateral ectopic pregnancy is a rare event and is difficult to diagnose preoperatively. We report a case diagnosed by transvaginal ultrasonography in a patient without risk factors. Laparoscopic left salpingectomy and right linear salpingostomy were performed. This case illustrates the importance of carefully examining both adnexa when ultrasound examination or surgery are performed.

Lorenzo Mier Lobato; M. del Carmen Bango Álvarez

2006-01-01

116

Bilateral thoracic extraadrenal myelolipoma  

Microsoft Academic Search

Myelolipoma commonly occurs in the adrenal gland and is composed of both adipose tissue and normal hematopoietic elements. Extraadrenal myelolipoma may occur in the retroperitoneum, stomach, liver, lung, and in 3% of cases even in the mediastinum. We present a 65-year-old female patient with unspecific clinical symptoms. Routine chest roentgenograms revealed bilateral widening of the posterior mediastinum. Computed tomography showed

T. Franiel; B. Fleischer; B. W. Raab; L. Füzesi

2004-01-01

117

Bilateral Retrovascular Femoral Hernia  

PubMed Central

A 34-year-old woman with cystic fibrosis presented with bilateral femoral hernias, which were found to be retrovascular at operation. The hernias were not amenable to conventional open or laparoscopic repair, and were repaired using pre-peritoneal mesh inserted deep to transversalis fascia. The anatomical basis and management of uncommon variants of femoral hernia are discussed. PMID:18634743

Papanikitas, Joseph; Sutcliffe, Robert P; Rohatgi, Ashish; Atkinson, Simon

2008-01-01

118

Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

I. V. Meisheri; V. S. Waigankar; M. P. Patel; A. Naregal; S. Ramesh; P. Muthal

1996-01-01

119

[Massive bilateral orbito-palpebral hematoma complicating acute myeloblastic leukemia].  

PubMed

The authors present a case of acute mieloblastic leucemia, having as an unique symptom a massive bilateral orbito-palpebral hematoma, but having not other symptoms of the hemoragipar syndroms common in acute leucemiae. After a short period of retreat of the disease, the goeson, leading to death. PMID:155085

Bozac, E; Maringa, E; Simu, G

1978-11-01

120

Autosomal dominant transmission of ureteral triplication and bilateral amastia.  

PubMed

We report a case of ureteral triplication as part of an autosomal dominant syndrome comprising bilateral amastia, pectus excavatum, umbilical hernia, patent ductus arteriosus, dysmorphic low set ears, ptosis, epicanthic folds with an antimongoloid slant to the eyes, hypertelorism, high arched palate, flat broad nasal bridge, tapered digits, cubitus valgus and syndactyly. PMID:3795344

Rich, M A; Heimler, A; Waber, L; Brock, W A

1987-01-01

121

Mermaid and Potter's Syndrome Occurring Simultaneously  

Microsoft Academic Search

We herein report a case of a female embryo who died in utero and at autopsy she was found to have bilateral renal agenesis with the extrarenal manifestations of Potter's syndrome together with mermaid syndrome which is a rare combination. From all the anomalies of the upper urinary tract bilateral renal agenesis seems to have a cardinal role in the

E. N. Liatsikos; P. Perimenis; K. Dandinis; E. Kaladelfou; G. A. Barbalias

1999-01-01

122

Bilateral renal calculi  

PubMed Central

Bilateral renal calculi were present in 114 (10.7%) of 1,070 cases of proved urinary calculus admitted to the Urological Department of the General Hospital, Kuala Lumpur, during the period November 1968—May 1973. The management of bilateral renal calculi is discussed with reference to the first 100 cases in this series. The introduction of renography has greatly facilitated the decision as to which kidney should be operated on first. The management of patients with and without uraemia is discussed and the use of the modified V and V—Y incisions for the removal of staghorn calculi is described. Complications and results are briefly reviewed. ImagesFig. 1Fig. 4Fig. 6Fig. 7 PMID:4845653

Sreenevasan, G

1974-01-01

123

Bilateral multifocal Warthin tumours.  

PubMed

Warthin tumour, also known as papillary cystadenoma lymphomatosum, is the second most frequent benign tumour of the parotid gland after pleomorphic adenoma. A 57-year-old man was referred to our hospital with bilateral buccal masses without pain. He presented with a 1-year history of the condition and stated that growth of the mass has accelerated during the last 6 months. Ultrasonography examination showed two heterogeneous solid masses. Axial contrast-enhanced CT image revealed bilateral heterogeneous solid masses. The masses showed enhancement after contrast administration (95 HU). Fine needle aspiration cytology was recommended for further analysis and typical benign features of Warthin tumour was obtained. Right parotid gland including the masses was resected completely. 5 weeks later superficial parotidectomy was performed to the left parotid gland. Histological examination revealed cystic tumour in the parenchyma of parotid gland, composed of prominent lymphoid stroma and large epithelial cells with oncocytic features covering it consistent with Warthin tumour. PMID:23704438

Deveer, Mehmet; Sahan, Murat; Sivrioglu, Ali Kemal; Celik, Ozgür Ilhan

2013-01-01

124

Bilateral superior oblique palsies.  

PubMed Central

Eighteen consecutive cases of bilateral superior oblique palsy have been studied retrospectively. The patients were typically adults with a history of severe head trauma. All patients complained of diplopia, either vertical, torsional, or both. Other neurological sequelae were common. Central disruption of fusion was seen in three patients. Eight patients underwent surgery for torsional or vertical diplopia, and the results are briefly discussed. PMID:4016044

Lee, J; Flynn, J T

1985-01-01

125

Bilateral pulmonary artery aneurysms  

Microsoft Academic Search

Pulmonary artery aneurysms are rare. The estimated incidence is 1 in 14,000 in autopsies. Bilateral main pulmonary artery aneurysms have not been previously reported in the literature.A 36-year-old woman who has been diagnosed as having an ostium secundum defect with severe pulmonary hypertension was found dead. Autopsy revealed an emaciated body. The heart was enlarged. Right atrium and ventricle were

Sarathchandra Kodikara; Murugapillei Sivasubramanium

2009-01-01

126

Bilateral intraocular dirofilariasis  

PubMed Central

Ocular dirofilariasis mostly presents as a subconjunctival or eyelid lesion.[1] Intraocular dirofilarial infestation is rare.[23] We report a case of a young woman who was accidentally detected to have a live motile worm in the anterior segment in one eye and a cystic lesion on the optic disc in the other eye. To our knowledge, bilateral intraocular dirofilariasis has never been reported. PMID:24008780

Gupta, Viney; Sankaran, Preeti; Mohanraj; Samantaray, Jyotish Chandra; Menon, Vimla

2014-01-01

127

Bilateral Testicular Epidermoid Cysts  

PubMed Central

Testicular epidermoid cysts are the most common benign tumors of the testes, but account for only 1-2% of all testicular tumors. In a young man presenting with a testicular mass, a high index of suspicion must be maintained for the malignant testicular germ cell tumor, which is 50-times more common than testicular epidermoid cyst. Bilateral testicular epidermoid cysts are a very rare condition, with only a few reports in the literature. It is extremely important in this condition to make a correct pre-operative diagnosis on imaging to enable a testis-sparing surgery. PMID:21915385

Loberant, Norman; Bhatt, Shweta; Messing, Edward; Dogra, Vikram S.

2011-01-01

128

Bilateral optic nerve hypoplasia.  

PubMed

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities. PMID:6926392

Ouvrier, R A; Lewis, D; Procopis, P G; Billson, F A; Silink, M; de Silva, M

1981-01-01

129

Rotational vertebral artery syndrome  

Microsoft Academic Search

Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited\\u000a by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral\\u000a peripheral or central vestibular structures, is still debated. We report on a patient with bilateral high-grade carotid stenoses,\\u000a in whom rightward headrotation led to RVAS symptoms including

Sarah Marti; Stefan Hegemann; Hans-Christian von Büdingen; Ralf W. Baumgartner; Dominik Straumann

2008-01-01

130

[Bilateral hand transplantation].  

PubMed

In March 2000 we performed a bilateral hand transplantation on a 47-year-old policeman who had lost both hands in a bomb accident. Although he was fitted with myoelectric prostheses, he kept investigating the possibility of hand transplantation. The ethical, surgical, medical, legal and human aspects of this special kind of reconstruction was discussed in a symposium in Vienna, and it was decided to go ahead with it if a suitable candidate presented. The operation was successful, the immunosuppressive regimen well-planned and carried out, the post-operative course without any remarkable events. Under intensive physical therapy, the patient gradually but steadily regained sensory and motor functions in his hands. Now, two years after the operation, the patient is practically independent in the activities of daily living and is able to work at his job. PMID:12073182

Piza-Katzer, H; Hussl, H; Ninkovi?, M; Pechlaner, S; Gabl, M; Ninkovi?, M; Schneeberger, S; Margreiter, R

2002-03-01

131

Bilateral lambdoid dermoid cyst.  

PubMed

Generally, dermoid and epidermoid cysts arise as a result of incomplete separation of the neuroectoderm from the superficial ectoderm with displacement of ectodermal elements along their lines of fusion during development. Dermoid cysts of the posterior head are rare lesions composed of epidermal and mesodermal elements. Furthermore, dermoid cysts in the occipital area are extremely rare. The presence of synchronous, bilateral occipital dermoids is quite rare and has not been reported previously. A unique case of lambdoidal dermoids in a 75-year-old woman is presented. Large right lesion was excised concurrently through direct skin incision, and a very small left mass was observed. And the etiology, natural history, management, and prognosis of dermoids are reviewed. PMID:24978680

Choi, Hwan Jun

2014-07-01

132

Bilateral giant adrenal myelolipomas  

Microsoft Academic Search

Adrenal myelolipomas are rare benign tumors that comprise mature adipose cells and hematopoietic elements. They are usually\\u000a found incidentally at autopsy and on imaging. Most cases are isolated and small. Although they are not hormonally active,\\u000a there is very rarely an association with functional adrenal disorders such as Cushing syndrome and congenital adrenal hyperplasia.\\u000a It is believed that in these

R. S. Kalidindi; L. Hattingh

2006-01-01

133

Bilateral metachronous periosteal osteosarcoma.  

PubMed

The first case of bilateral metachronous periosteal osteosarcoma (OS) is reported. A 14-year-old white boy presented with a 1-month history of pain and swelling in his right thigh. Periosteal OS was diagnosed on a basis of the radiologic and pathologic findings. Treatment was with local resection and total hip replacement after a short course of high-dose methotrexate; multi-agent chemotherapy was continued postoperatively for 3 months. He remained well for 3 years. He then represented with a mass in the left femur that had been slowly growing for about 1 year. Radiologic and biopsy studies showed periosteal OS. Full investigations showed no evidence of metastatic disease. Treatment consisted of local resection without chemotherapy. He remained well for 6 months after the second excision until developing multiple pulmonary metastases. All further therapy was refused. The question as to whether the second tumor was a new primary lesion or a metastasis is discussed, together with possible differential diagnoses. PMID:3460685

Howat, A J; Dickens, D R; Boldt, D W; Waters, K D; Campbell, P E

1986-09-01

134

Unilateral hyperhydrosis in Pourfour du Petit syndrome  

Microsoft Academic Search

Upper limp hyperhydrosis is an idiopathic disease with bilateral involvement. However, Pourfour du Petit syndrome, the opposite of Horner syndrome, may result in unilateral upper limb hyperhydrosis. It occurs following hyperactivity of the sympathetic cervical chain as a consequence of irritation secondary to trauma. We report herein two cases with Pourfour du Petit syndrome showing unilateral upper limb hyperhydrosis. The

Murat Kara; Erkan Dikmen; Cengiz Akarsu; Ahu Birol

2004-01-01

135

Bilateral adrenal gland haemorrhage: an unusual cause  

PubMed Central

Summary Our patient had drainage of a large amoebic liver abscess. This got complicated by a severe degree of hypotension, which required aggressive fluid resuscitation and hydrocortisone support. Computerised tomography (CT) of the abdomen revealed bilateral adrenal gland haemorrhage (BAH) resulting in primary adrenal gland failure, which was the cause for hypotension. Patient was on long-term warfarin for provoked deep vein thrombosis of lower limb, which was discontinued before the procedure. Thrombophilia profile indicated the presence of lupus anticoagulant factor with prolonged activated partial thromboplastin time (aPTT). Patient was discharged on lifelong warfarin. This case emphasises the need for strong clinical suspicion for diagnosing BAH, rare but life-threatening condition, and its association with amoebic liver abscess and anti-phospholipid antibody syndrome (APLS). Learning points Recognition of BAH as a rare complication of sepsis.APLS can rarely cause BAH. PMID:25276353

Shenoy, Vasant; Malabu, Usman; Cameron, Donald; Sangla, Kunwarjit

2014-01-01

136

Hennekam lymphangiectasia syndrome  

PubMed Central

Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

2011-01-01

137

Bilateral Achilles tendon enlargement.  

PubMed

Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well. Juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and tendon xanthomas are the most prominent features of this disease. Bilateral symmetrical firm masses of Achilles tendons may be the first symptom the patient recognizes because it can jeopardize his or her ability to walk. However, the treatment strategies for tendon tumors vary. In a recent case, we diagnosed the disease properly, according to the clinical manifestations and the radiological and laboratory examinations. The genetic mutation was characterized by analyzing sterol 27-hydroxylase from the patient's family (located on nucleotide 599) and led to a nonsense mutation. It is a unique type of mutation that has never been reported to our knowledge. Tendon lesions are characterized by the loss of muscle fibers and accumulation of lipid products. To help the patient regain the strength of the Achilles tendon and walking abilities, a large area of tendon tumor was excised, followed by reconstruction with a tibialis posterior allograft, which is the second strongest tendon in the foot and ankle. Although the use of this type of graft is uncommon, the final result was satisfactory. At the 10-month follow-up examination, the patient could walk easily without pain. This case report suggests that the surgical procedure will provide an alternative for the repair of large-area degenerative Achilles tendons. PMID:22146219

Huang, Lu; Miao, Xu-dong; Yang, Di-sheng; Tao, Hui-min

2011-12-01

138

Cushing's syndrome or obesity  

Microsoft Academic Search

A rare case of the Cushing syndrome, due to bilateral adrenal hyperplasia is described. Because of generalized obesity, normal height, normal bone age and family history of obesity, a boy 10 years of age had at first been misdiagnosed as simple obesity. A reduction in height velocity, advancement of bone age and development of precocious pseudopuberty led to a more

Annemarie Koelz; Jiirg Girard

1976-01-01

139

Noonan syndrome and moyamoya  

Microsoft Academic Search

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits.

V Ganesan; F. J Kirkham

1997-01-01

140

Management and outcomes in massive bilateral Wilms' tumors  

PubMed Central

Purpose: To evaluate the outcome of children with bilateral Wilms’ tumor (BWT) treated on All India Institute of Medical Sciences-Wilms Tumor-99 (AIIMS-WT-99) protocol. Materials and Methods: All children with BWT, registered in our solid tumor clinic from August 1999 through December 2010 were included. Results: Of the 178 fresh cases of Wilms Tumor (WT) treated during this period, 11 (6.2%) had bilateral involvement. All patients except one (12 and 3 cm), had massive bilateral tumors of more than 10 cm on each side. There were eight boys and three girls in the age range 6–30 months. One patient had Denys-Drash syndrome. Twenty renal units were operated upon (12 tumorectomy, five partial nephrectomy, and three nephrectomies), while one patient with inferior vena cava (IVC) thrombus died of renal failure. Tumor spill occurred in three units, lymphnode was positive in two patients. Local recurrence occurred in four patients (six of 18 renal units (33%)—two bilateral and two unilateral). There was one recurrence in the liver that was treated with radio-frequency ablation. The 5-year overall survival (OS) was 90% (95% confidence interval (CI) = 50.8–98.6) and the relapse free survival (RFS) was 38% (95% CI = 6.1–71.6). Conclusion: Massive BWT respond poorly to preoperative chemotherapy, are often not amenable to partial nephrectomy/tumorectomy and have a higher local recurrence rate, giving a poor RFS.

Agarwala, Sandeep; Mittal, Deepak; Bhatnagar, Veereshwar; Srinivas, M; Bakhshi, Sameer; Bajpai, Minu; Gupta, Devendra Kumar; Iyer, V. K.; Mohanti, Bidyut K; Thulkar, Sanjay

2014-01-01

141

Bilateral and symmetrical tinea mammae.  

PubMed

Tinea corporis has rarely been reported in some locations such as on the breast skin as unilaterally. Herein, we present a case of bilateral tinea mammae, which has not been reported before in English language literature to our knowledge. PMID:24050298

Yilmaz, Murat; Kavak, Ayse; Yamaner, Nalan Jale

2013-09-01

142

Atraumatic painless compartment syndrome.  

PubMed

Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

2013-12-01

143

Bilateral spermatocytic seminoma: a case report  

PubMed Central

Spermatocytic seminoma (SS) is a rare entity, accounting for 2%–12% of all seminomas; amongst those, fewer than 10% are bilateral. These may occur synchronously or metachranously. We report here a case of bilateral SS in a 63-year-old patient, who initially presented with bilateral testicular masses. In our search of the literature, this represents the fifth documented case of synchronous, bilateral SS. PMID:25032177

Narins, Hadley; Chevli, Kent; Gilbert, Richard; Duff, Michael; Toenniessen, Andrew; Hu, Yan

2014-01-01

144

Note: Unshielded bilateral magnetoencephalography system using two-dimensional gradiometers  

NASA Astrophysics Data System (ADS)

Magnetoencephalography (MEG) noninvasively measures neuronal activity with high temporal resolution. The aim of this study was to develop a new type of MEG system that can measure bilateral MEG waveforms without a magnetically shielded room, which is an obstacle to reducing both the cost and size of an MEG system. An unshielded bilateral MEG system was developed using four two-dimensional (2D) gradiometers and two symmetric cryostats. The 2D gradiometer, which is based on a low-Tc superconducting quantum interference device and wire-wound pickup coil detects a magnetic-field gradient in two orthogonal directions, or ?/?x(?2Bz/?z2), and reduces environmental magnetic-field noise by more than 50 dB. The cryostats can be symmetrically positioned in three directions: vertical, horizontal, and rotational. This makes it possible to detect bilateral neuronal activity in the cerebral cortex simultaneously. Bilateral auditory-evoked fields (AEF) of 18 elderly subjects were measured in an unshielded hospital environment using the MEG system. As a result, both the ipsilateral and the contralateral AEF component N100m, which is the magnetic counterpart of electric N100 in electroencephalography and appears about 100 ms after the onset of an auditory stimulus, were successfully detected for all the subjects. Moreover, the ipsilateral P50m and the contralateral P50m were also detected for 12 (67%) and 16 (89%) subjects, respectively. Experimental results demonstrate that the unshielded bilateral MEG system can detect MEG waveforms, which are associated with brain dysfunction such as epilepsy, Alzheimer's disease, and Down syndrome.

Seki, Yusuke; Kandori, Akihiko; Ogata, Kuniomi; Miyashita, Tsuyoshi; Kumagai, Yukio; Ohnuma, Mitsuru; Konaka, Kuni; Naritomi, Hiroaki

2010-09-01

145

Electromyographic feedback in the treatment of bilateral facial paralysis: A case study  

Microsoft Academic Search

Electromyographic feedback in the treatment of facial paralysis has been shown to be a useful alternative to surgical procedures. In this paper we report on the partial recovery of a 7-year-old patient with congenital bilateral facial paralysis (Moebius syndrome) that had been considered untreatable by medical specialists. Biofeedback of electromyographic activity was provided together with specific instructions, social reinforcement, and

Xóchitl Gallegos; Rocío Medina; Elizabeth Espinoza; Andrés Bustamante

1992-01-01

146

Bilateral suborbital rash: a dermatologic manifestation of neuropsychiatric disease in a pediatric patient.  

PubMed

A 10-year-old girl presented with a new onset bilateral suborbital rash. Dermatologic examination revealed violaceous, non-tender, well-demarcated patches with an atypical distribution and pigmentation. After further investigation, a diagnosis of Munchausen syndrome was made and the patient was referred to her primary care provider for further management. PMID:24852783

Tong, Lana X; Wang, Yen Tun; Beynet, David

2014-05-01

147

Laparoscopic Cortical Sparing Adrenalectomy for Pediatric Bilateral Pheochromocytoma: Anesthetic Management  

PubMed Central

Introduction: Pheochromocytoma is a catecholamine-secreting tumor, which is seen rarely in children. These tumors predominantly secrete norepinephrine and epinephrine. They might be familial and associated with hereditary tumors such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type II. Case Presentation: The child might present with a spectrum of clinical manifestation including hypertension, headache, visual disturbances, and behavioral problems. A meticulous preoperative preparation is essential for a stable intraoperative and postoperative outcome Conclusions: We described successful perioperative management of a child who underwent bilateral laparoscopic cortical sparing adrenalectomy and a repeated surgery for the residual tumor removal. PMID:24790902

Rajappa, Geetha Chamanhalli; Anandaswamy, Tejesh Channasandra

2014-01-01

148

Pneumomediastinum and bilateral pneumothorax following near drowning in shallow water  

PubMed Central

We report pneumomediastinum, bilateral pneumothorax and acute respiratory distress syndrome in a victim of near drowning who was intoxicated and did not have thoracic or neck trauma. Chest radiograph revealed the above findings, later confirmed by computed tomography. He was in shock and also had gastrointestinal (GI) bleeding and renal dysfunction. With adequate resuscitative measures including fluids, blood transfusions, intercostal tube drainage and mechanical ventilation he made a complete recovery. Good prognostic indicators in near drowning patients include higher Glasgow Coma Scale, short submersion time and quick resuscitative measures even in the presence of serious cardiorespiratory or hemodynamic compromise. PMID:24765331

Govindaraj, Santhiya; Viswanathan, Stalin

2011-01-01

149

Recessive Transmission of a Multiple Endocrine Neoplasia Syndrome in the Rat1  

Microsoft Academic Search

We describe a novel hereditary cancer syndrome in the rat that is transmitted by a recessive gene mutation. Animals exhibiting the mutant phenotype develop multiple neuroendocrine malignancies within the first year of life. The endocrine neoplasia is characterized by bilateral adrenal pheochromocytoma, multiple extra-adrenal pheochromocytoma, bilateral medullary thyroid cell neoplasia, bilateral parathyroid hyperplasia, and pituitary adenoma. The appearance of neoplastic

Andreas Fritz; Axel Walch; Kamilla Piotrowska; Michael Rosemann; Ekkehard Schaffer; Karin Weber; Andreas Timper; Gerhild Wildner; Jochen Graw; Heinz Hofler; Michael J. Atkinson

150

Primary amyloidosis presenting as "dropped head syndrome".  

PubMed

A 77-year-old man, with a history of lymphoma, presented with isolated neck extensor weakness and a 2-year history of bilateral carpal tunnel syndrome (CTS). Needle electromyography showed myopathic changes, and biopsy of cervical paraspinal muscles showed amyloid deposition in blood vessels. Amyloidosis should be considered in the differential diagnosis of dropped head syndrome. PMID:21607974

Chuquilin, Miguel; Al-Lozi, Muhammad

2011-06-01

151

Nontraumatic fat embolism syndrome in sickle cell anemia  

Microsoft Academic Search

A 14-year-old girl with sickle cell disease and nephrotic syndrome developed bone pain, followed by pulmonary edema, seizures, coma, and bilateral flaccid paralysis. Fat embolism syndrome was diagnosed by cranial magnetic resonance imaging and an exchange transfusion was performed. Within 3 months, all symptoms had resolved. It is concluded that fat embolism syndrome must be considered as a possible cause

Darlene P. Horton; Donna M. Ferriero; William C. Mentzer

1995-01-01

152

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection  

PubMed Central

Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections.

Conforti, Renata; Capasso, Raffaella; Capaldo, Guglielmo; Dato, Clemente; Saracino, Dario; Di Iorio, Giuseppe; Melone, Mariarosa A

2014-01-01

153

Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia  

PubMed Central

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-? hydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20?cm on the left and weighing 4.1?kg and 25 × 20 × 13?cm on the right and weighing 2.7?kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing's syndrome, Addison's disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses. PMID:25140269

Al-Bahri, S.; Tariq, A.; Lowentritt, B.; Nasrallah, D. V.

2014-01-01

154

Giant bilateral adrenal myelolipoma with congenital adrenal hyperplasia.  

PubMed

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-? hydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20?cm on the left and weighing 4.1?kg and 25 × 20 × 13?cm on the right and weighing 2.7?kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing's syndrome, Addison's disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses. PMID:25140269

Al-Bahri, S; Tariq, A; Lowentritt, B; Nasrallah, D V

2014-01-01

155

Scintigraphy in Ochoa syndrome.  

PubMed

The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. Nuclear medicine images showed extensive bilateral renal scarring and obstructive pattern in diuretic renogram. PMID:23698458

Infante, Jose Rafael; Rayo, Juan I; Serrano, Justo; Domínguez, María L; García, Lucía; Durán, Carmen

2013-07-01

156

Noonan syndrome and moyamoya.  

PubMed

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits. The association between Noonan syndrome and moyamoya has not previously been described. Disruption of vascular development in prenatal life may have resulted in both cardiac and cerebrovascular disease in this child. PMID:9165521

Ganesan, V; Kirkham, F J

1997-04-01

157

Hypoplastic left heart syndrome in PAGOD syndrome.  

PubMed

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami

2014-06-01

158

Bilateral internal thoracic artery grafting  

PubMed Central

The effectiveness of the left internal mammary artery graft to the anterior descending coronary artery as a surgical strategy has been shown to improve the survival rate and decrease the risk of adverse cardiac events in patients undergoing coronary bypass surgery. These clinical benefits appear to be related to the superior short and long-term patency rates of the internal thoracic artery graft. Although the advantages of using of both internal thoracic arteries (ITA) for bypass grafting have taken longer to prove, recent results from multiple data sets now support these findings. The major advantage of bilateral ITA grafting appears to be improved survival rate, while the disadvantages of complex ITA grafting include the increased complexity of operation, and an increased risk of wound complications. While these short-term disadvantages have been mitigated in contemporary surgical practice, they have not eliminated. Bilateral ITA grafting should be considered the procedure of choice for patients undergoing coronary bypass surgery that have a predicted survival rate of longer than ten years. PMID:23977627

2013-01-01

159

Simultaneous occurrence of duane retraction syndrome with marfan syndrome.  

PubMed

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5-10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental. PMID:22606474

Kothari, Mihir; Manurung, Florence; Mithiya, Bhavesh

2011-01-01

160

Localization and Speech Understanding by a Patient With Bilateral Cochlear Implants and Bilateral Hearing Preservation  

PubMed Central

Objectives The authors describe the localization and speech-understanding abilities of a patient fit with bilateral cochlear implants (CIs) for whom acoustic low-frequency hearing was preserved in both cochleae. Design Three signals were used in the localization experiments: low-pass, high-pass, and wideband noise. Speech understanding was assessed with the AzBio sentences presented in noise. Results Localization accuracy was best in the aided, bilateral acoustic hearing condition, and was poorer in both the bilateral CI condition and when the bilateral CIs were used in addition to bilateral low-frequency hearing. Speech understanding was best when low-frequency acoustic hearing was combined with at least one CI. Conclusions The authors found that (1) for sound source localization in patients with bilateral CIs and bilateral hearing preservation, interaural level difference cues may dominate interaural time difference cues and (2) hearing-preservation surgery can be of benefit to patients fit with bilateral CIs. PMID:23183045

Dorman, Michael F.; Spahr, Anthony J.; Loiselle, Louise; Zhang, Ting; Cook, Sarah; Brown, Chris; Yost, William

2013-01-01

161

Successful Bilateral Composite Ear Reattachment  

PubMed Central

Summary: A successful bilateral ear composite graft nonmicrosurgical reattachment is presented. In cases where suitable vessels are unavailable for microsurgical revascularization, the reconstructive challenge can be formidable for salvaging the unique anatomic and aesthetic structure of the ear. The case is presented of an 18-year-old woman who was a victim of an assault wherein both of her ears were intentionally amputated by her attacker. She underwent successful surgical reattachment followed by a postoperative regimen of hyperbaric oxygen, cooling, and meticulous wound care. The patient achieved 100% survival of her left ear graft and 95% survival of her right ear graft. Clinical photographs at 18 months are presented, along with a discussion of the possible implications for other reconstructive applications. PMID:25289367

2014-01-01

162

Bilateral Wilms' tumors: changing concepts in management  

Microsoft Academic Search

Bilaterality is uncommon in Wilms' tumor, being present in 4% to 8% of the cases. We report the combined experience of two children's hospitals in one city over a 20-year period. We encountered nine cases of synchronous bilateral nephroblastoma (National Wilms' Tumor Study 3, stage V). Age at diagnosis ranged from 9 to 41 months (mean 23 months). There were

J. M. Laberge; L. T. Nguyen; Y. L. Homsy; D. P. Doody

1987-01-01

163

[Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].  

PubMed

Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome. PMID:9312747

Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F

1997-01-01

164

Fahr's Syndrome- An Interesting Case Presentation  

PubMed Central

Fahr’s syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr’s syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease. PMID:23634413

Asokan, Athulya Geetha; D'souza, Sydney; Jeganathan, Jayakumar; Pai, Shivananda

2013-01-01

165

Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations.  

PubMed

Bilateral striopallidodentate calcinosis, commonly known as Fahr's disease is a rare clinical entity present mainly with extrapyramidal signs and accompanied with metabolic, biochemical, neuroradiological and neuropsychiatric situations. It is characterised by the symmetrical and bilateral intracranial deposition of calcium associated with cell loss in the basal ganglia, cerebral cortex and cerebellum.In this study, we discussed two brothers' cases of Fahr's diseases who presented with different symptomatology. The first presented with walking difficulty, cramps and dysarthria and moderate memory impairment whereas the second with vertigo, ataxia, forgetfulness and headache. CT scans of both patients revealed intracranial diffuse bilateral calcifications in the basal ganglia and the cerebellum. The second patient revealed progressive cerebral atrophy but reduction in the calcification. Fahr's disease, although encountered rarely, should also be taken into account in the differential diagnosis of cases with abnormal intracranial calcifications along with other familial, congenital and metabolic diseases and syndromes. PMID:24014337

Bowirrat, Abdalla; Yassin, Mustafa; Artoul, Faozi; Artul, Suheil

2013-01-01

166

Bilateral adrenal myelolipomas in a woman with chronic anticoagulation, postmenopausal uterine bleeding, primary hyperparathyroidism and hyperthyroidism.  

PubMed

Adrenal myelolipomas are rare, usually benign unilateral tumors. Their management has controversially been discussed. The authors here present a 53-year-old African American female Jehovah's witness with postmenopausal uterine bleeding on chronic anticoagulation and episodic right flank pain who was found to have bilateral myelolipomas in addition to primary hyperparathyroidism. In collaboration with gynecology, midline laparotomy was performed to remove uterus and both ovaries in addition to the right adrenal gland for a 62 × 79 mm myelolipoma. An open biopsy of the left adrenal mass measuring 42 × 43 mm revealed myelolipoma and ruled out malignancy. Pathology confirmed bilateral myelolipomas, endometrial polyps, and leiomyomata uteri. After an uneventful recovery, the patient then underwent a right inferior parathyroidectomy for parathyroid adenoma. This case illustrates the challenges in deciding when to surgically intervene for bilateral adrenal myelolipoma and, for the first time, associates various other endocrinopathies, although no known endocrine neoplasia syndrome variant was present. PMID:23426084

Saunders, Rachel N; Koch, Christian A; Brown, Kathryn B; Hairston, Frances J; Daley, William P; Ahmed, Naveed; Vanderlan, Wesley B

2013-07-01

167

Postpubertal cherubism with Noonan syndrome.  

PubMed

Cherubism is a self limiting, autosomal dominant, fibro-osseous lesion of the maxillo facial region affecting the young adults. The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported. The affected subjects usually present with simultaneous, bilateral swellings of the maxillae and/or mandible, premature loss of primary teeth, malocclusion due to disturbed eruption pattern of permanent teeth and a characteristic chubby faced angelic eyed appearance. This usually presents as an isolated finding, however, it can exist in association with syndromes like Noonan's syndrome, Jaffe syndrome, Gardener syndrome and Ollier's disease. Treatment is focused on the exact genetic diagnosis and management of symptomatic conditions utilizing cosmetic surgery and orthodontics. Genetic counselling of the affected families may help to decrease its incidence. This report presents a rare case of cherubism with associated features of Noonan syndrome. PMID:24718001

Ahmed, Bilal; Amin, Muhammad

2014-03-01

168

Bilateral sudden hearing loss following habitual abortion: a case report and review of literature.  

PubMed

Sudden sensorineural hearing loss (SSNHL) is usually unilateral and can be associated with tinnitus and vertigo. The most common causes of this disease are known to be the vascular and viral agents, but immune disorders are involved in the development of sudden deafness. The antiphospholipid syndrome (APS) is an acquired autoimmune system disorder, which is defined as the presence of antiphospholipid antibodies (APA) in the patient's blood, then cause venous and/or arterial thrombosis in various organs of the body, for example, thrombosis can occur in the placenta and/or the inner ear. As a result, it can cause abortion and/or sudden deafness. Bilateral SSNHL following habitual abortion is a rare clinical event. Here, we report a case of 32-year-old woman who presented with bilateral sudden hearing loss following recurrent pregnancy loss (RPL) as the first manifestation of primary antiphospholipid syndrome. Combine the literature, the diagnosis, clinical implication and treatment are discussed. PMID:24040484

Yin, Tuanfang; Huang, Fengying; Ren, Jihao; Liu, Wei; Chen, Xing; Li, Lihua; Xie, Dinghua; Lu, Yongde

2013-01-01

169

Bilateral sudden hearing loss following habitual abortion: a case report and review of literature  

PubMed Central

Sudden sensorineural hearing loss (SSNHL) is usually unilateral and can be associated with tinnitus and vertigo. The most common causes of this disease are known to be the vascular and viral agents, but immune disorders are involved in the development of sudden deafness. The antiphospholipid syndrome (APS) is an acquired autoimmune system disorder, which is defined as the presence of antiphospholipid antibodies (APA) in the patient’s blood, then cause venous and/or arterial thrombosis in various organs of the body, for example, thrombosis can occur in the placenta and/or the inner ear. As a result, it can cause abortion and/or sudden deafness. Bilateral SSNHL following habitual abortion is a rare clinical event. Here, we report a case of 32-year-old woman who presented with bilateral sudden hearing loss following recurrent pregnancy loss (RPL) as the first manifestation of primary antiphospholipid syndrome. Combine the literature, the diagnosis, clinical implication and treatment are discussed. PMID:24040484

Yin, Tuanfang; Huang, Fengying; Ren, Jihao; Liu, Wei; Chen, Xing; Li, Lihua; Xie, Dinghua; Lu, Yongde

2013-01-01

170

Heterochronic bilateral ectopic pregnancy after ovulation induction.  

PubMed

Ectopic pregnancy is identified with the widely-applied assisted reproductive technology (ART). Bilateral ectopic pregnancy is a rare form of ectopic pregnancy which is difficult to be diagnosed at the pre-operation stage. In this paper, we presented an unusual case of heterochronic bilateral ectopic pregnancy after stimulated intrauterine insemination (IUI), where there has been a delay of 22 d between the diagnoses of the two ectopic pregnancies. Literature was reviewed on the occurrence of bilateral ectopic pregnancy during the past four years in the MEDLINE database. We found 16 cases of bilateral ectopic pregnancy reported since 2008, and analyzed the characteristics of those cases of bilateral ectopic pregnancy. We emphasize that ovulation induction and other ARTs may increase the risk of bilateral ectopic pregnancy. Because of the difficulty in identification of bilateral ectopic pregnancy by ultrasonography, the clinician should be aware that the treatment of one ectopic pregnancy does not preclude the occurrence of a second ectopic pregnancy in the same patient and should pay attention to the intra-operation inspection of both side fallopian tubes in any ectopic pregnancy case. PMID:25091994

Zhu, Bo; Xu, Gu-feng; Liu, Yi-feng; Qu, Fan; Yao, Wei-miao; Zhu, Yi-min; Gao, Hui-juan; Zhang, Dan

2014-08-01

171

Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.  

PubMed

We report on 2 sibs with bilateral porencephaly, absence of the septum pellucidum, and pancerebellar hypoplasia including absence of the vermis. Situs inversus and tetralogy of Fallot was present in one, and an atrial septal defect in the other. This constellation of findings is discussed against the background of familial porencephalies and schizencephalies, familial cerebellar hypoplasias, and asplenia/polysplenia syndromes. It is concluded that the described constellation of findings constitutes a new entity of probably autosomal recessive inheritance. PMID:8737647

Bönnemann, C G; Meinecke, P

1996-06-14

172

Reversible bilateral pyramidal tract lesions after hypertensive crisis and cerebral seizures  

Microsoft Academic Search

This is a rare case of reversible high signal-intensity changes along the pyramidal tracts in a patient with reversible posterior leukoencephalopathy syndrome (RPLS). A 38-year-old man was admitted to hospital for loss of consciousness and generalized seizures. His systolic blood pressure was 220 mmHg. Neurological examination revealed bilateral pyramidal-tract signs, and paresis of the right arm. Initial MRI showed increased signal

A. Bink; S. Weidauer; M. Hermans; C. Kell; H. Lanfermann

2007-01-01

173

An Unusual Case of Bilateral Maxillary and Mandibular Para Premolar: A Case Report  

PubMed Central

The presence of supernumerary teeth is not uncommon in the general population. They occur more frequently in patients with a family history of such teeth. It is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. There have been very few documented cases of bilateral maxillary and mandibular supernumeraries in the premolar region. An unusual case of a 35-year-old man with six para premolars and complete dentition is presented. PMID:24396358

Chanagay, Sunil Kumar Vishwanath; Singh, Vikram; Bantwal, Sunil Rao; Muniyappa, Manjunatha

2013-01-01

174

Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction  

SciTech Connect

Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

Doody, O., E-mail: orla_doody@hotmail.co [Alfred Hospital, Department of Radiology (Australia); Adam, W. R. [University of Melbourne and Goulburn Valley Health, School of Rural Health (Australia); Foley, P. T.; Lyon, S. M. [Alfred Hospital, Department of Radiology (Australia)

2009-03-15

175

Bilateral reduction mammoplasty after heart transplantation.  

PubMed

We report a bilateral reduction mammoplasty in a 15 year old female who suffered increasing back and shoulder pain and chest wall discomfort associated with bilateral breast enlargement during a 17 month period following heart transplantation. Cardiologic evaluation confirmed a structurally normal heart with good systolic and diastolic function, and ejection fraction of 80%. We performed a bilateral mammoplasty using dermal suspension flap in vertical-scar reduction. The patient recovered satisfactorily without incident, and breast morphology was excellent at the 2 year 9 month follow-up, with no recurrence of her previous symptoms or further hyperplasia. PMID:25179978

Shi, Yue-Dong; Qi, Fa-Zhi; Feng, Zi-Hao

2014-08-01

176

Familial association of femoral trochlear dysplasia with recurrent bilateral patellar dislocation.  

PubMed

Femoral trochlear dysplasia is an anatomic deformity that predisposes patients to patellar instability, including patellar subluxation and dislocation, and can lead to severe patellofemoral joint degeneration if left untreated. Femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation has rarely been reported as having a familial association. Orthopedic surgeons who encounter patients presenting with chronic patellar instability with no underlying disease or syndrome should be aware of the presence of femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation. Although femoral trochlear dysplasia remains uncommon, the presence of bilateral recurrent patellar dislocation in multiple members of the same family is highly suggestive of genetic inheritance.This article describes 3 patients from 1 family who presented with femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation. To our knowledge, this is the second article to describe a familial form of femoral trochlear dysplasia associated with recurrent bilateral patellar dislocation and is the first article in English. A lower threshold for screening and early intervention for symptomatic family members may be indicated to prevent the long-term effects of chronic patellar subluxation, dislocation, and patellofemoral arthritis. PMID:22495863

Rebolledo, Brian J; Nam, Denis; Cross, Michael B; Green, Daniel W; Sculco, Thomas P

2012-04-01

177

Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography  

PubMed Central

In the absence of syndromes, bilateral dentigerous cysts (DC) located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT) the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts. PMID:24963255

Imada, Thais Sumie Nozu; Neto, V. Tieghi; Bernini, G. F.; Silva Santos, P. S.; Rubira-Bullen, I. R. F.; Bravo-Calderon, D.; Oliveira, D. T.; Goncales, E. S.

2014-01-01

178

Bilateral variation of subclavius muscle resembling subclavius posticus.  

PubMed

During routine anatomical dissection, a bilateral variation of the muscle subclavius was discovered with additional morphological features consistent with the muscle subclavius posticus. Attached medially to the first rib by tendon and to the clavicle by fibrous bands, the long triangular shaped muscle ran dorsal-laterally to attach onto the transverse scapular ligament and the coracoid process. The scapular insertion of the omohyoid muscle was just medial to this muscle, with some intermingling of fibers close to their insertions. In addition, the muscle on the left was split into two heads before inserting onto the scapula. Innervation was supplied by the nerve to the subclavius. We believe this muscle to be a hybrid of subclavius and subclavius posticus muscles, and we discuss the developmental origin of this rare subclavius variant, as well as the potential role this muscle may play in the development of thoracic outlet syndrome. PMID:18231702

Martin, Ryan M; Vyas, Neil M; Sedlmayr, Jayc C; Wisco, Jonathan J

2008-03-01

179

Bilateral pectoral musculature malformations with concomitant vascular anomaly.  

PubMed

We report on a unique combination of multiple variations concerning the pectoral muscles and the left external jugular vein. Specifically, a bilateral hypoplasia of the medial clavicular portion of the pectoralis major muscle was noticed along with the coexistence of total right pectoralis minor aplasia, substituted by loose connective and fatty tissue. Simultaneously, a supernumerary anterior-placed external jugular vein was found, which, after its supraclavicular course, pierced the interval between the left clavicular and the sternocostal head, and drained into the left jugular junction. The combination of the above anomalies constitutes an atypical pattern of Poland syndrome. We discuss the related embryological development and the relative literature. Attention was paid to the clinical importance for plastic surgeons, general surgeons, and radiologists, facilitating them with accurate interpretation of anterior thoracic wall findings. PMID:21154292

Paraskevas, G K; Raikos, A

2010-08-01

180

Bilateral Medial Medullary Stroke: A Challenge in Early Diagnosis  

PubMed Central

Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI) that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI), and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well. PMID:24198988

Torabi, Amir M.

2013-01-01

181

Bilateral hippocampal dysfunction in schizophrenia.  

PubMed

The hippocampus has long been known to be important for memory, with the right hippocampus particularly implicated in nonverbal/visuo-spatial memory and the left in verbal/narrative or episodic memory. Despite this hypothesized lateralized functional difference, there has not been a single task that has been shown to activate both the right and left hippocampi differentially, dissociating the two, using neuroimaging. The transverse patterning (TP) task is a strong candidate for this purpose, as it has been shown in human and nonhuman animal studies to theoretically and empirically depend on the hippocampus. In TP, participants choose between stimuli presented in pairs, with the correct choice being a function of the specific pairing. In this project, TP was used to assess lateralized hippocampal function by varying its dependence on verbal material, with the goal of dissociating the two hippocampi. Magnetoencephalographic (MEG) data were collected while controls performed verbal and nonverbal versions of TP in order to verify and validate lateralized activation within the hippocampi. Schizophrenia patients were evaluated to determine whether they exhibited a lateralized hippocampal deficit. As hypothesized, patients' mean level of behavioral performance was poorer than controls' on both verbal and nonverbal TP. In contrast, patients had no decrement in performance on a verbal and nonverbal non-hippocampal-dependent matched control task. Also, controls but not patients showed more right hippocampal activation during nonverbal TP and more left hippocampal activation during verbal TP. These data demonstrate the capacity to assess lateralized hippocampal function and suggest a bilateral hippocampal behavioral and activation deficit in schizophrenia. PMID:21763438

Hanlon, Faith M; Houck, Jon M; Pyeatt, Clinton J; Lundy, S Laura; Euler, Matthew J; Weisend, Michael P; Thoma, Robert J; Bustillo, Juan R; Miller, Gregory A; Tesche, Claudia D

2011-10-15

182

Bilateral congenital pseudarthrosis of the clavicle  

Microsoft Academic Search

A case of bilateral congenital pseudarthrosis of the clavicle in a baby boy is described. The patient is fully asymptomatic, and no functional impairment is present. This is probably only the seventh case described of this rare congenital anomaly.

M. T. P. Russo; N. Maffulli

1990-01-01

183

[A case of bilateral ureteral triplication].  

PubMed

Ureteral triplication is a rare congenital anomaly of the urinary tract, although ureteral duplication is rather common. Bilateral ureteral triplications are even rare anomalies. A five-year-old girl with a history of urinary tract infection and episodes of fever and lower abdominal pain was admitted to our hospital for further examination of microscopic hematuria. An excretory urogram (IVP) revealed bilateral 3 pelves and ureters, and cystoscopic examination showed 2 ureteral orifices on each side. Both sides of bilateral ureteral triplications in our case belonged to type B of Smith's classification. Ureteral triplication was first reported by Wraný in 1870. Since then 84 cases have been reported and among them 3 cases had bilateral ureteral triplications. In this article, the classification and the development of ureteral triplication are reviewed briefly. PMID:4025084

Shoda, R; Ejiri, S; Fujita, T; Wada, N

1985-03-01

184

Angioleiomyomas in the bilateral broad ligaments.  

PubMed

The female genital tract is a rare site for angioleiomyoma. Here, we present an unusual case of bilateral large angioleiomyoma in the broad ligaments. A 52-year-old woman underwent total hysterectomy with bilateral salpingo-oophorectomy due to massive tumors in the bilateral adnexal regions. Gross examination revealed a hemangioma-like mass each in the bilateral broad ligaments. The right one extended into the uterine myometrium. Histologically, both tumors had a mixed pattern of prominent thick-walled blood vessels and cellular short spindle myoid cells throughout. The spindle cells often swirled around the vessels, displaying an overlapping feature with angiomyofibroblastoma or myopericytoma. Immunostaining demonstrated that the tumor cells were positive for alpha-smooth muscle actin, desmin, estrogen receptor, and progesterone receptor. We believe that angioleiomyoma should be recognized as a delineated variant of leiomyoma in the female genital tract. This rare benign tumor should be differentiated from other mesenchymal neoplasms with prominent blood vessels. PMID:19952939

Chen, Xiaoduan; Zhang, Xiaofei; Zhang, Suojiang; Lü, Bingjian

2010-01-01

185

Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction  

Microsoft Academic Search

Treacher Collins Syndrome is a rare bilateral congenital deformity occurring in 1 in 10,000 births. It is also known, in the European literature, as Franceschetti Syndrome, and is additionally known as mandibulofacial dysostosis. It is a syndrome with a very wide spectrum of manifestations characterized by distortions of the orbit secondary to hypoplasia of the maxilla, mandible, and, most markedly,

Louis C. Argenta; John J. Iacobucci

1989-01-01

186

[Morphological alterations of oto-mandibular syndromes].  

PubMed

Otomandibular dysplasia is a congenital malformation defined by a certain degree of temporomandibular or pterygomandibular hypoplasia. The syndrome is characterised by the variability of clinical findings, but the three major features are auricular, mandibular and maxillary hypoplasia. All the laterofacial structures may be affected. The deformity is usually unilateral but bilateral cases exist; a lot of associated malformations have been described. Multiple classification systems have been published. Some of them are very complex, but it is possible to define a simple diagnostic diagram based on ethiopathogenic data. Bilateral involvement affects predominantly the zygoma, and concerns hereditary syndromes. When the mandibular hypoplasia is evident Franceschetti or Goldenhar syndrome is suspected; otherwise Treacher-Collins syndrome is probable. Unilateral cases are not, in general, hereditary and the hypoplasia predominates on the mandible. The difference between hemifacial microsomia or mandibular dysplasia is made by the presence of associated laterofacial deformities. PMID:11770456

Bettega, G; Morand, B; Lebeau, J; Raphaël, B

2001-10-01

187

Tourette Syndrome  

MedlinePLUS

NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

188

Fanconi syndrome  

MedlinePLUS

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

189

Bilateral Carotid Paraganglioma: Surgery and Radiotherapy  

PubMed Central

BACKGROUND Paragangliomas are relatively rare vascular tumors that develop from the neural crest cells of carotid bifurcation. They usually present as slow-growing, painless unilateral neck masses; bilateral presentation is rare and is mostly associated with familial forms. Bilateral total resection is not always possible for high-grade bilateral tumors, and radiotherapy is a good alternative, with cure rates similar to surgery. CASE REPORT A 35-year-old female patient was admitted with a chief complaint of a bilateral, painless mass located on her neck. Subsequent magnetic resonance imaging (MRI) and angiographic imaging revealed bilateral hypervascular masses surrounding her carotid at 360°, and they were interpreted as stage 3 carotid paragangliomas according to the Shamblin classification protocol. Surgery was carried out on the left carotid paraganglioma and the mass was totally resected. It was thought that the patient could not tolerate bilateral surgery. Primary radiotherapy was planned on the right carotid paraganglioma: 59.8 gray (Gy) conformal, Linac-based multileaf collimator radiotherapy with a 180 cGy daily dosage, and five fractions per week were planned. RESULTS Follow-up at 3 months following the conclusion of radiotherapy revealed no significant regression. A follow-up MRI 6 months and 24 months later revealed 59% regression. Grade 2 esophagitis and minimal neck edema were the only complications noted during the course of radiotherapy and during the 24-month follow-up period. No complications or relapse were observed except for edema following neck surgery. PMID:25057243

Kiziltan, Huriye S; Ozucer, Berke; Eris, Ali H; Veyseller, Bayram

2014-01-01

190

Squamous papillomatosis of the bilateral nasal cavities.  

PubMed

The term "papillomatosis" indicates the tendency towards multicentricity and recurrence that these tumors exhibit (Snyder et al. 1972). A typical squamous papilloma arises from the nasal vestibule and is characterized by the epithelial proliferation growing an exophytic manner. We report a rare case of squamous papillomatosis of the bilateral nasal cavities. A 65-year-old man presented with a 2-year-history of bilateral nasal obstruction. Computed tomographic (CT) scans revealed a soft density mass in the bilateral nasal cavities and ethmoid sinuses. Because the tumors were limited to the nasal cavities and anterior ethmoid sinuses, total removal of the tumors was performed endoscopically. On the basis of the clinicopathological findings, the tumors were diagnosed as squamous papillomas. His post-operative course was uneventful, and he is currently free from disease 13 months after surgery. Nasal papillomas usually arise from the unilateral nasal cavity or paranasal sinus. While some cases of inverted (inverting) papillomas arising from the bilateral nasal cavities have been reported, bilateralism of the nasal squamous papillomas is quite rare. Diagnosis, clinical behavior and treatment of squamous papillomatosis of the bilateral nasal cavities are reviewed. PMID:15942156

Kumagai, Masaki; Endo, Sohei; Matsunaga, Eiko; Kida, Akinori; Sakata, Hitomi; Yamamoto, Masahiro

2005-07-01

191

Wernicke's syndrome after bariatric surgery  

Microsoft Academic Search

Two young females with severe morbid obesity presented with Wernicke's syndrome after Roux-en-Y gastro-jejunum bypass had been performed. The first patient had recurrent vomiting and dyplopia two months post-surgery. Physical examination indicated bilateral ophthalmoparesia with conserved convergence and ataxia. The second patient had frequent vomiting episodes over the previous three months together with lower limb hypotonia, myoclonia and generalised tonicoclonic

J. SALAS-SALVADÓ; P. GARCÍA-LORDA; G. CUATRECASAS; A. BONADA; X. FORMIGUERA; D. DEL CASTILLO; M. HERNÁNDEZ; J. M. OLIVÉ

2000-01-01

192

Bilateral isokinetic training reduces the bilateral leg strength deficit for both old and young adults  

Microsoft Academic Search

The bilateral limb deficit (BLD) describes the difference in maximal or near-maximal force generating capacity of muscles when they are contracted alone and in combination with the contralateral muscles. This study examined the effects of a 6-week (three times per week) bilateral leg strength training programme on BLD in younger and older adults. Data were collected from 33 subjects during

Usha Kuruganti; Philip Parker; Jeremy Rickards; Maureen Tingley; James Sexsmith

2005-01-01

193

Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features  

PubMed Central

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts. PMID:25246819

Seo, Mirinae; Ahn, Hye Shin; Moon, Hyeong-Gon

2014-01-01

194

Goldenhar Syndrome: A Report of 3 Cases  

PubMed Central

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association. PMID:23723509

Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J

2013-01-01

195

Bilateral diaphragmatic defect and associated multiple anomalies.  

PubMed

Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation. PMID:19299227

Karadeniz, Leyla; Guven, Sirin; Atay, Enver; Ovali, Fahri; Celayir, Aysenur

2009-03-01

196

Opercular syndrome: A case report and review  

PubMed Central

We present a 9-year-old boy with history of perinatal asphyxia and neonatal seizures; who presented with delayed development of speech, with predominant dysarthria, dysphagia, and drooling of saliva and unable to protrude tongue along with delayed motor and mental milestones. He had complex partial seizures since last 3 years requiring multiple anti-epileptic drugs. He had dysarthria, nasal twang, and drooling of saliva with difficulty in chewing and swallowing. Hearing and understanding were normal. Bilateral trigemino-facio-linguo-pharyngeal palsy was noticed on voluntary movements with normal jaw jerk with preserved automatic and emotional motor movements. Electroencephalography revealed focal left fronto-temporal epileptiform discharges and brain imaging was suggestive of bilateral cortical and subcortical region encephalomalacia, predominantly involving bilateral opercular region. The clinical and neuroimaging features correspond to bilateral opercular syndrome which could have resulted from the perinatal insult in this case. PMID:24082930

Desai, Soaham Dilip; Patel, Dipen; Bharani, Sheela; Kharod, Nikhil

2013-01-01

197

Right and left perisylvian cortex and left inferior frontal cortex mediate sentence-level rhyme detection in spoken language as revealed by sparse fMRI.  

PubMed

In this study, we used functional magnetic resonance imaging to investigate the neural basis of auditory rhyme processing at the sentence level in healthy adults. In an explicit rhyme detection task, participants were required to decide whether the ending syllable of a metrically spoken pseudosentence rhymed or not. Participants performing this task revealed bilateral activation in posterior-superior temporal gyri with a much more extended cluster of activation in the right hemisphere. These findings suggest that the right hemisphere primarily supports suprasegmental tasks, such as the segmentation of speech into syllables; thus, our findings are in line with the "asymmetric sampling in time" model suggested by Poeppel (: Speech Commun 41:245-255). The direct contrast between rhymed and nonrhymed trials revealed a stronger BOLD response for rhymed trials in the frontal operculum and the anterior insula of the left hemisphere. Our results suggest an involvement of these frontal regions not only in articulatory rehearsal processes, but especially in the detection of a matching syllable, as well as in the execution of rhyme judgment. PMID:22711328

Hurschler, Martina A; Liem, Franziskus; Jäncke, Lutz; Meyer, Martin

2013-12-01

198

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.  

PubMed

A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected. Interestingly, our patient fits the description of a rare genetic disease referred to as Al-Gazali syndrome, for which the genetic cause is unknown. PMID:25149931

Sellars, Elizabeth A; Bosanko, Katherine A; Lepard, Tiffany; Garnica, Adolfo; Schaefer, Gerald Bradley

2014-06-01

199

Bilateral Absence of the Superior Vena Cava  

PubMed Central

Bilateral absence of the superior vena cava (SVC) is a very rarely detected, mainly asymptomatic congenital vascular anomaly. Though usually innocent, this anomaly may complicate cardiothoracic surgery and certain procedures like central venous catheter insertion. This SVC anomaly is poorly known, and we assume that its incidence in the general population may be higher than detected. In this paper, we summarize current knowledge on this anomaly and its clinical implications. In addition, we present a neonatal case with bilateral absence of the SVC associated with a fetal cystic hygroma. Conclusion. Totally absent SVC can cause unexpected problems during cardiothoracic surgery. Suspicion of SVC absence should arise in basic echocardiography. Our paper suggests that, like other congenital anomalies, bilateral absent SVC may be associated with a fetal cyctic hygroma. PMID:24826253

Ylänen, Kaisa; Poutanen, Tuija; Savikurki-Heikkilä, Päivi; Uotila, Jukka; Korppi, Matti; Eerola, Anneli

2012-01-01

200

Bilateral Facial Nerve Palsy: A Diagnostic Dilemma  

PubMed Central

Introduction. Bilateral facial nerve palsy (FNP) is a rare condition, representing less than 2% of all cases of FNP. Majority of these patients have underlying medical conditions, ranging from neurologic, infectious, neoplastic, traumatic, or metabolic disorders. Objective. The differential diagnosis of its causes is extensive and hence can present as a diagnostic challenge. Emergency physicians should be aware of these various diagnostic possibilities, some of which are potentially fatal. Case Report. We report a case of a 43-year-old female who presented to the emergency department with sequential bilateral facial nerve paralysis which could not be attributed to any particular etiology and, hence, presented a diagnostic dilemma. Conclusion. We reinforce the importance of considering the range of differential diagnosis in all cases presenting with bilateral FNP. These patients warrant admission and prompt laboratory and radiological investigation for evaluation of the underlying cause and specific further management as relevant. PMID:23326715

Pothiawala, Sohil; Lateef, Fatimah

2012-01-01

201

Bilateral leukocoria in infant with afibrinogenemia  

PubMed Central

Purpose To report a bilateral leukocoria case in a patient suffering from afibrinogenemia. Methods An observational case where congenital afibrinogenemia was presented with bilateral retinal and vitreous hemorrhages that proceeded to vitreoretinal surgery was presented. In addition, complete ophthalmic and radiological examinations and vitreoretinal surgery were performed. Results Right eye had a complete recovery while the left eye showed serious proliferative vitreoretinopathy and shortened retina. Three years after the surgery clinical examination showed that the right eye was aphacic with an attached retina and clear ocular media while the left eye was phtysic. Conclusion We recommend broad clotting profile for infants suffering from vitreous or retinal hemorrhages with no obvious physical abuse. Our present case furthermore implies that afibrinogenemia can lie beneath the pathogenesis of bilateral leukocoria and should alert physician for the presence of an afibrinogenemia among several types of bleeding predispositions. PMID:19668740

Demir, M Necati; Acar, Mehmet Akif; Aral, Yusuf Ziya; Unlu, Nurten

2008-01-01

202

Magnetoencephalographic analysis of secondary bilateral synchrony.  

PubMed

To assess the clinical value of magnetoencephalography (MEG) in investigating the origin of secondary bilateral synchrony (SBS) in patients with partial epilepsy. MEG and simultaneous electroencephalography (EEG) were recorded with a 204-channel whole-head MEG system in 2 patients. The equivalent current dipoles (ECDs) for epileptic discharges on MEG were calculated according to a single dipole model. In patient 1, the ictal EEG showed bursts of bilateral synchronous 3-Hz spike-and-slow-wave complexes. ECDs obtained from the ictal MEG localized to the right medial frontal lobe. On the second patient's MEG recordings, epileptic discharges corresponding to prolonged EEG bursts of bilateral synchronous spike-and-slow-wave complexes were obtained. ECDs calculated from the prolonged bursts were clustered in the left medial frontal lobe. MEG detected the sources of SBS in the medial frontal lobe. MEG is extremely useful for the identification of the source of SBS. PMID:15574582

Tanaka, Naoaki; Kamada, Kyousuke; Takeuchi, Fumiya; Takeda, Youji

2005-01-01

203

Bilateral self-inflicted infectious dacryoadenitis.  

PubMed

Abstract The aim of this report is to present a case of a patient with bilateral lacrimal gland abscesses in the course of dacryoadenitis. A 45-year-old female patient with a long history of cocaine abuse presented with bilateral bacterial dacryoadenitis and upper lid inflammation with purulent discharge from a palpebral wound of the right upper lid. The diagnosis was confirmed with microbiology culture and an orbital CT scan, which revealed lacrimal gland abscesses. The patient admitted to vigorous eye scratching, which we believe was the mechanism responsible for the process. The infection resolved on targeted antibiotic therapy. This is the first reported case of bilateral infectious dacryoadenitis produced in a self-inflicted mechanism in a cocaine addict. PMID:25208047

Latasiewicz, Marta; Chang-Sotomayor, Meilin; Alonso-Caldarelli, Claudia; Farias-Plazas, Fabian; Leszczynska, Anna; Gonzalez-Candial, Miguel

2014-12-01

204

Laparoscopic removal of müllerian structures and orchiopexy for persistent müllerian duct syndrome  

Microsoft Academic Search

A 1-year-old boy presented for evaluation of bilateral undescended testes. Diagnostic laparoscopy was conducted, and uterine tissue with bilateral gonads was detected in the rectovesical fossa. Chromosomal analysis revealed a 46,XY karyotype. Persistent müllerian duct syndrome was diagnosed, and laparoscopic surgery was performed to treat this condition. The uterus was incised at a distal site and withdrawn through the port.

Yoshinori Shirasaki; Atsushi Nagai; Yasutomo Nasu; Hiroki Iguchi; Hiromi Kumon

2003-01-01

205

Spontaneous Bilateral Meningoencephalocoeles of the Temporal Bones  

PubMed Central

Spontaneous tegmen tympani defects are rare with even rarer bilateral cases. The symptoms are nonspecific; hence, a high index of suspicion is required to prevent serious intracranial complications. We present a case of spontaneous bilateral tegmen tympani defects with associated meningoencephalocoeles in a 54-year-old male who presented with the signs and symptoms of severe meningitis. After careful workup which included a lumbar puncture, CT and MRI scans, both defects were repaired using a middle fossa approach. The patient made an uneventful recovery with complete cessation of otorrhoea and improvement in his hearing. PMID:24288640

2013-01-01

206

Bilateral Metallic Stenting in Malignant Hilar Obstruction  

PubMed Central

Endoscopic palliative biliary drainage is considered as a gold standard treatment in advanced or inoperable hilar cholangiocarcinoma. Also, metal stents are preferred over plastic stents in patients with >3 months life expectancy. However, the endoscopic intervention of advanced hilar obstruction is often more challenging and complex than that of distal malignant biliary obstructions. In this literature review, we describe the issues commonly encountered during endoscopic unilateral (single) versus bilateral (multiple) biliary stenting for malignant hilar obstruction. Also, we provide technical guidance to improve the technical success rates and patient outcomes, focusing on bilateral metallic stenting techniques such as stent-in-stent or side-by-side deployment.

Moon, Jong Ho; Park, Sang-Heum

2014-01-01

207

Bilateral control of teleoperators with time delay  

NASA Technical Reports Server (NTRS)

A control law for teleoperators is presented which overcomes the instability caused by time delay. By using passivity and scattering theory, a criterion is developed which shows why existing bilateral control systems are unstable for certain environments, and why the proposed bilateral control law is stable for any environment and any time delay. The control law has been implemented on a single-axis force-reflecting hand controller, and preliminary results are shown. To keep the presentation clear, a 1-DOF linear time-invariant teleoperator system is discussed. Nevertheless, the results can be extended without loss of generality to an n-DOF nonlinear teleoperation system.

Anderson, Robert J.; Spong, Mark W.

1989-01-01

208

Bilateral common carotid occlusion without neurological deficit.  

PubMed

A 40-year-old man presented with pain and numbness in his right arm. On his clinical examination, no neurological deficit was found. Bilateral common carotid artery duplex sonography scan demonstrated no flow in either lumen. No abnormality was recognized on brain CT. On cerebral digital substraction angiogram, total occlusion of the brachiocephalic trunk and left carotid artery were shown. There was a modest stenosis in the left vertebral artery. Collateral circulation feeding the intracranial carotid system mainly originated from the left vertebrobasilar system. Previous cases of bilateral carotid occlusion are reviewed and discussed. PMID:12452914

Karaköse, Serdar; Karabacakoglu, Aydin; Solak, Hasan

2002-12-01

209

Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association.  

PubMed

We describe a case of VACTERL syndrome associated with type 1 unilateral caudal regression syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower limb, bilateral club foot, and single umbilical artery. Postmortem examination confirmed prenatal sonographic findings with additional findings of supernumerary rib at the lumbar level and anal atresia. PMID:19536863

Gedikbasi, Ali; Yararbas, Kanay; Yildirim, Gokhan; Yildirim, Dogukan; Arslan, Oguz; Gul, Ahmet; Ceylan, Yavuz

2009-10-01

210

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

Microsoft Academic Search

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,

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

211

Functioning Endometrium and Endometrioma in a Patient with Mayer-Rokitanski-Kuster-Hauser Syndrome  

PubMed Central

Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome is a rare disease. A 27-year-old woman was admitted for primary amenorrhea and cyclic pelvic pain. Magnetic resonance imaging (MRI) revealed bilateral Müllerian remnants with functioning endometrium and a pelvic mass considered to be an endometriotic cyst. Bilateral Müllerian remnants were removed, and right ovarian cystectomy was performed at laparoscopic surgery. Accurate evaluation before the operation and informed consent are necessary to treat patients with MRKH syndrome. PMID:25336999

Kawano, Yasushi; Hirakawa, Tomoko; Nishida, Masakazu; Yuge, Akitoshi; Yano, Mitsutake; Nasu, Kaei; Narahara, Hisashi

2014-01-01

212

Atraumatic bilateral scapular spine fracture several months after bilateral reverse total shoulder arthroplasty.  

PubMed

We report an 89-year-old woman with bilateral atraumatic scapular spine fracture several months after bilateral reverse total shoulder arthroplasty (RTSA). Recently, RTSA has gained popularity in the surgical treatment of complex shoulder disorders such as cuff tear arthropathy. However, scapular fractures may occur several months after surgery as a late complication of this procedure. In this case report we focus on a relatively uncommon subtype, the scapular spine fracture. Although well-known in the orthopedic literature, radiologists are less familiar with this complication. To the best of our knowledge, bilateral scapular fractures have not yet been reported. PMID:24276680

Nicolay, Simon; De Beuckeleer, Luc; Stoffelen, Daniël; Vanhoenacker, Filip; Pouillon, Marc

2014-05-01

213

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

214

Down Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications En Espańol Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

215

Dravet Syndrome  

MedlinePLUS

NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

216

Piriformis Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder ...

217

Pott's Spine with Bilateral Psoas Abscesses  

PubMed Central

A high degree of suspicion and appropriate imaging studies are required for the early diagnosis of Pott's spine. We describe a 4-year-old boy with Pott's disease of the lumbar spine with bilateral psoas abscesses. The child responded to conservative treatment with antituberculous treatment and ultrasonographically guided percutaneous drainage of the abscesses. PMID:23259114

Masavkar, Sanjeevani; Shanbag, Preeti; Inamdar, Prithi

2012-01-01

218

Fuzzy preferences in bilateral negotiation support systems  

Microsoft Academic Search

The paper presents a bilateral negotiation support system (NSS) based on a multi-attribute utility model that adapts a fuzzy set methodology in determining user's preference functions. The system can concurrently handle negotiations that span across multiple mediating issues in a manner that increases the joint utility of both parties. The NSS is expected to impart a more interactive and realistic

Tung Bui; Taracad Sivasankaran

1991-01-01

219

Silicosis presenting as bilateral hilar lymphadenopathy.  

PubMed Central

Classical radiographic features of patients presenting with silicosis are diffuse interstitial shadowing with subsequent enlargement of hilar nodes, sometimes with "eggshell" calcification. Five case histories are described of workers who were exposed to silica and presented initially with bilateral hilar lymphadenopathy without radiographic evidence of interstitial lung disease. One case progressed to show features of silicosis. Images PMID:8958905

Baldwin, D R; Lambert, L; Pantin, C F; Prowse, K; Cole, R B

1996-01-01

220

Bilateral pulmonary nodules caused by Dirofilaria immitis.  

PubMed

The unusual case of bilateral lung nodules caused by Dirofilaria immitis in a 44-year-old woman is presented. A brief discussion of the life cycle of this parasite, the clinical and epidemiological features of human infestation, and the roentgenographic and laboratory findings is given. PMID:2383125

Bradham, R R; Locklair, P R; Grimball, A

1990-08-01

221

Bilateral noncontemporary hip fractures. 31 cases reported  

Microsoft Academic Search

Hip fractures are one of the leading causes of morbidity and mortality among the elderly. Hip fracture is usually due to the combination of an acute event (a fall) with a chronic condition like osteoporosis. The literature is not very informative on the incidence of bilateral hip fracture. To investigate the consequences of the later fracture, we studied 31 patients

L. Galois; Y. Dausse; D. Mainard; J. P Delagoutte

2001-01-01

222

Achieving Bilateralism in Electroheat Stability Evaluations  

Microsoft Academic Search

The stability criteria for controlled electroheat processes, i.e., plastic extruders, arc furnaces, induction furnaces, plasma torches, fluidized beds, etc., is studied. A previous geometric approach was unilateral, in that stability criteria could be evaluated if the electroheat gain and the controller sensitivity were known, but the reverse procedure was not possible. Subsequent experience has shown that this lack of bilateralism

William K. Roots; Cheng-Mieng Wu

1969-01-01

223

Domestic Content Requirements with Bilateral Monopoly  

Microsoft Academic Search

This short paper models physical content policies in a bilateral monopoly setting using a cooperative game approach. For just binding or nonbinding content requirements, the policy does not induce any deadweight loss but alters the profit distribution in favor of the domestic supplier. This result holds as long as the inputs concerned by the policy are good substitutes in production,

John C Beghin; Daniel A Sumner

1992-01-01

224

"Ostrich sign" indicates bilateral vertebral artery dissection.  

PubMed

Vertebral artery dissections (VADs) comprise about 2% of ischemic strokes and can be associated with trauma, chiropractic manipulation, motor vehicle collisions, whiplash, amusement park rides, golfing, and other motion-induced injuries to the neck. We present a case of bilateral extracranial VAD as a complication of conducting an orchestra. To our knowledge, this has not been documented in the literature. Conceivably, vigorous neck twisting in an inexperienced, amateur conductor may place excessive rotational forces upon mobile portions of the verterbral arteries, tear the intima, deposit subintimal blood that extends longitudinally, and cause neck pain and/or posterior fossa ischemic symptoms. Magnetic resonance angiography examinations of axially oriented slices of bilateral VADs resemble the face of an ostrich. This observation is similar to the "puppy sign," in which bilateral internal carotid artery dissections resemble the face of a dog. Craniocervical dissections of either the carotid or vertebral arteries have the potential to form an aneurysm, cause artery-to-artery embolism, or completely occlude the parent artery, resulting in an ischemic stroke. Because bilateral VADs in axial magnetic resonance angiographic sections stand out like the eyes of an ostrich, and because the fast identification of VADs is so critical, we eponymize this image the "ostrich sign." PMID:21440457

Rose, David Z; Husain, M Rizwan

2012-11-01

225

Bilateral Synergy: A Framework for Post-Stroke Rehabilitation  

PubMed Central

Background Unilateral stroke produces debilitating deficits in voluntary control in the contralesional arm, and significant motor coordination deficits in the ipsilesional arm. In addition, patients tend to avoid bilateral arm patterns and during performance of activities of daily living. Nevertheless, upper extremity physical rehabilitation predominantly focuses on motor training activities with only the paretic arm. This can be limiting because of persistent deficits in the ipsilesional arm, and because of the tendency of patients to avoid spontaneous bilateral arm patterns. Proposition Rehabilitation should focus on bilateral training to advance recovery of function in both arms of stroke patients, as well as to facilitate spontaneous bilateral arm use. This paper reviews the rationale for this approach, citing evidence for significant hemisphere specific bilateral motor deficits in stroke patients, which affect both the contralesional and the ipsilesional arm. The rationale for, and advantages of, training both arms simultaneously through bilateral tasks is reviewed. Although bilateral training has been employed to treat stroke patients previously, this has tended to focus on bimanual ‘coupling’ as a rationale for performing parallel, but not cooperative bilateral tasks. Bilateral synergy provides a more functional framework for structuring post-stroke upper extremity rehabilitation. Conclusion Bilateral synergy may be causally linked to spontaneous bilateral arm use, suggesting that rehabilitation should be focused on bilateral cooperative tasks, such as bilateral object transport. Further research is required to determine whether this approach could be efficacious for patients with hemiparesis, and whether both left and right hemisphere strokes can benefit from such intervention. PMID:24729985

Sainburg, RL; Good, D; Przybyla, A

2014-01-01

226

Atypical herpes simplex encephalitis presenting as operculum syndrome  

Microsoft Academic Search

This case report demonstrates the course of herpes simplex virus cerebritis in a patient aged 7 years 2 months who presented\\u000a with non-specific symptoms followed by an epileptic attack. Subcortical, bilateral opercular and bilateral thalamic lesions\\u000a were detected, but the temporal and inferior frontal lobes were spared. The patient developed anarthria, impairment of mastication\\u000a and swallowing consistent with operculum syndrome.

Rainer W. Wolf; Detlev Schultze; Christian Fretz; Markus Weissert; Peter Waibel

1999-01-01

227

Mild toxic anterior segment syndrome mimicking delayed onset toxic anterior segment syndrome after cataract surgery  

PubMed Central

Toxic anterior segment syndrome (TASS) is an acute sterile postoperative anterior segment inflammation that may occur after anterior segment surgery. I report herein a case that developed mild TASS in one eye after bilateral uneventful cataract surgery, which was masked during early postoperative period under steroid eye drop and mimicking delayed onset TASS after switching to weaker steroid eye drop. PMID:25230969

Lee, Su-Na

2014-01-01

228

Chromatin and transcriptional regulators act in a cascade to establish a bilateral asymmetry of the C. elegans nervous system  

E-print Network

Neuroanatomical bilateral asymmetry is a widespread feature in both vertebrates and invertebrates. Although mostly bilaterally symmetric, the nervous system of Caenorhabditis elegans displays bilateral asymmetry. Bilateral ...

Nakano, Shunji, Ph. D. Massachusetts Institute of Technology

2011-01-01

229

[Bilateral tumor of the nasal vestibule--a case report].  

PubMed

The authors report a case of a bilateral tumor of the nasal vestibule with a six-year history of progressive impairment of nasal breathing. After microsurgical transnasal excision, the finding was diagnosed as bilateral nasolabial cyst. PMID:16586277

Schütz, A G; Hermanns-Sachweh, B; Westhofen, M; Di Martino, E

2006-10-01

230

[Bilateral testicular metastasis of cancer of the prostate].  

PubMed

Testicular metastasis of prostate cancer rarely occurs. Bilateral localization is exceptional. We report a new case of prostate adenocarcinoma with bilateral testicular metastasis. The diagnosis was made on clinical and ultrasonic arguments, and confirmed on the pathological specimen. Treatment consisted in a bilateral orchidectomy, associated with nonsteroid androgens. PMID:9765784

el Moussaoui, A; Sarf, I; Dakir, M; Zamiati, S; Benjelloun, S

1997-01-01

231

[Moebius syndrome: therapeutic proposals from 2 cases].  

PubMed

Moebius syndrome is a congenital bilateral palsy of the sixth and seventh cranial nerves. It results a total absence of facial expression and a severe strabismus. Social life is greatly disturbed. Other anomalies may be associated, especially other cranial palsies and Poland syndrome. The etiology of this syndrome isn't clearly established. Stem necrosis secondary to a vascular deficiency is often admitted. We report two observations. We emphasize the importance of a complete maxillo-facial treatment including maxillo-mandibular anomaly. Both patient underwent orthognathic surgery. The first one for class II and the second for class III anomaly. One patient underwent a facial reanimation by temporal muscle transfer. Orthognathic surgery must be realized prior to facial reanimation. A correction of the strabismus is possible. Moebius syndrome is a rare (200 observations) but very severe malformation. Maxillofacial surgery is able to improve the morphological and relational aspect of Moebius syndrome. PMID:9036517

Braye, F; Souchere, B; Franc, C; Freidel, M

1996-12-01

232

Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi  

Microsoft Academic Search

Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia,\\u000a and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated\\u000a with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector\\u000a CT (MDCT) imaging. The study also revealed

Berna Oguz; Serdar Alan; Ugur Ozcelik; Mithat Haliloglu

2009-01-01

233

Tako-tsubo cardiomyopathy in a patient with bilateral lesions in the dorsal medulla.  

PubMed

Tako-tsubo-like cardiomyopathy (TTC) is much more common than originally thought. The exact pathophysiology of TTC is unclear. The most accepted theory proposes myocardial stunning of neurogenic origin, supported by the frequent antecedent of emotional or physical stress, suggesting a catecholamine-mediated mechanism. We present a patient with this syndrome and bilateral damage of the dorsal medulla oblongata likely affecting both solitary tract nuclei. Our case points to a link between baroreflex failure and TTC, highlighting the important role of sympathetic discharge in the pathophysiology of TTC. PMID:20963467

Berganzo, Koldo; Ciordia, Roberto; Gómez-Esteban, Juan C; Tijero, Beatriz; Agundez, Marta; Velasco, Fernando; Valle, Maria A; Zarranz, Juan J

2011-02-01

234

Fatal arterial gas embolism in an adult 1 year after bilateral sequential lung transplantation.  

PubMed

Fatal systemic air embolism (SAE) related to positive pressure ventilation is a rare complication. Case reports in the pediatric literature usually relate to complications in ventilating neonates and are more common. We describe what we believe to be the first such case in an adult ventilated with a high-frequency oscillating ventilator (HFOV) for acute respiratory distress syndrome (ARDS). The patient had undergone bilateral sequential lung transplantation 12 months earlier for idiopathic pulmonary fibrosis. Radiographic findings showed cerebral and aortic gas embolization and livedo reticularis with widespread cerebral infarction and cerebral edema. PMID:18503973

Erasmus, David B; Alvarez, Francisco; Keller, Cesar A

2008-06-01

235

Morphoimmunohistochemical characteristics of synchronous bilateral breast cancer.  

PubMed

We performed a complex morphoimmunohistochemical study of synchronous bilateral breast cancer (diagnosed in 0.69% cases in women of the postproductive period after the age of 50). The molecular genetic characteristics of this cancer were detected and the algorithm of diagnostic studies was suggested. We have demonstrated that bilateral breast cancer was in 75% cases estrogen- and progesterone-positive, but androgen-negative. The HER-2/neu status of the tumor was negative in 75% cases, but expression of HER-2/neu was detected in the tumor of one mammary gland in 20% cases. Membrane expression of E-cadherin in infiltrative ductal cancer cells significantly decreased up to its complete disappearance with the decrease in tumor cell differentiation degree. The data provide new insight into prognostic value of the studied biomarkers and help to develop treatment protocol with consideration for the molecular biology of this group of tumors. PMID:25257431

Todorov, S S; Kit, O I; Bosenko, E S; Kas'yanenko, V N; Lushnikova, E L; Nepomnyashchikh, L M

2014-09-01

236

Bilateral macular hole following myopic photorefractive keratectomy.  

PubMed

A 42-year-old man was admitted to our clinic complaining of visual distortion in his left eye two months after bilateral myopic photorefractive keratectomy (PRK). Macular optical coherence tomography (OCT) showed a stage II macular hole in the left eye. Simultaneous OCT in the right eye showed vitreous traction and distortion of the outer retina. One month later, the patient underwent vitrectomy for the left eye, and the macular hole was closed. Two months after that, the patient complained of visual distortion in the right eye, and OCT revealed increased traction and accentuated outer retinal distortion indicating a stage IB macular hole. Traction attenuated later without any intervention. The short interval between PRK and hole formation, bilateral involvement, and the moderate refractive error in this case highlight the possible role of PRK in aggravating vitreoretinal interface abnormalities. We recommend the addition of PRK to the list of procedures that may be associated with the formation of a macular hole. PMID:24882962

Shoeibi, Nasser; Jabbarpoor Bonyadi, Mohammad Hossein; Abrishami, Majid; Ansari-Astaneh, Mohammad-Reza

2014-06-01

237

Presumed bilateral occipital neurosarcoidosis. A case report.  

PubMed

A 37-year-old man with a history of sarcoidosis, hypertension, asthma, depression and prior intravenous drug use presented with complaints of difficulty in finding his way around the house, headache, and blurred vision in both eyes. The symptoms had been increasing in severity over the prior several months. Physical examination showed normal visual acuity, pupil reactions, and fundi but severe, circumferential constriction of the visual fields bilaterally. The visual fields enlarged appropriately on increasing the distance from the patient to the tangent screen. Neuroimaging revealed bilateral, occipital meningeal involvement and parenchymal lesions consistent with sarcoidosis. Treatment with oral corticosteroids produced a mild subjective improvement in the patient's symptoms and stabilized the visual fields, without improving them. This case represents an unusual presentation of presumed neurosarcoidosis involving the visual pathways at the level of the occipital lobes. PMID:9532537

Givre, S J; Mindel, J S

1998-03-01

238

Bilateral Breast Masses with a Rare Etiology  

PubMed Central

Breast masses have a variety of benign and malignant etiologies. We present the case of a 28-year-old woman with bilateral large painful breast masses that developed rapidly in the three weeks before first presentation. Further investigation revealed bilateral ovarian masses. Biopsies of both ovarian masses were taken, and the pathology reported Burkitt's lymphoma. Additional staging with a PET scan was suggestive of bone marrow involvement, but bone marrow biopsy was negative. Examination of the cerebrospinal fluid did not identify malignant cells. The patient underwent CODOX-M/IVAC chemotherapy, and a complete response was demonstrated after one cycle of treatment. Six months after finishing chemotherapy the patient remained in complete remission. To our knowledge this is the first case reporting simultaneous involvement of breast, ovaries, and bones in Burkitt's lymphoma. Gynecologists and oncologists should be aware of this pattern. Polychemotherapy treatment must be initiated rapidly with curative intent. PMID:24066248

Sartorius, Gideon; Kalf, Katrin; Heinzelmann, Viola

2013-01-01

239

Bilateral Pneumothoraces Following Central Venous Cannulation  

PubMed Central

We report the occurrence of a bilateral pneumothoraces after unilateral central venous catheterization of the right subclavian vein in a 70-year-old patient. The patient had no history of pulmonary or pleural disease and no history of cardiothoracic surgery. Two days earlier, she had a median laparotomy under general and epidural anaesthesia. Prior to the procedure, the patient was hemodynamically stable and her transcutaneous oxygen saturation was 97% in room air. We punctured the right pleural space before cannulation of the right subclavian vein. After the procedure, the patient slowly became hemodynamically instable with respiratory distress. A chest radiograph revealed a complete left-side pneumothorax and a mild right-side pneumothorax. The right-side pneumothorax became under tension after left chest tube insertion. The symptoms finally resolved after insertion of a right chest tube. After a diagnostic work-up, we suspect a congenital “Buffalo chests” explaining bilateral pneumothoraces and a secondary tension pneumothorax. PMID:19901997

Pazos, F.; Masterson, K.; Inan, C.; Robert, J.; Walder, B.

2009-01-01

240

Bilateral Filtering for Gray and Color Images  

Microsoft Academic Search

Proceedings of the 1998IEEE InternationalConference on Computer Vision, Bombay,IndiaBilateral filtering smooths images while preservingedges, by means of a nonlinear combination of nearbyimage values. The method is noniterative, local, and simple.It combines gray levels or colors based on both theirgeometric closeness and their photometric similarity, andprefers near values to distant values in both domain andrange. In contrast with filters that operate

Carlo Tomasi; Roberto Manduchi

1998-01-01

241

Bilateral Pregnancy Luteoma: A Case Report  

PubMed Central

Pregnancy luteoma is a non-neoplastic lesion of the ovary occurring during pregnancy and is usually discovered incidentally at the time of a cesarean section or during postpartum tubal ligation. An accurate diagnosis is important for the mother and the fetus as it can be confused with ovarian malignancy leading to unnecessary surgery. We report a case of a pregnant female who was discovered to have bilateral enlarged ovaries at the time of emergency cesarean section. PMID:25337317

Nanda, Annu; Gokhale, Uday A.; Pillai, G Rajasekharan

2014-01-01

242

Coping with systematic bias during bilateral movement  

Microsoft Academic Search

The present studies examined the nature of kinematic interlimb interference during bilateral elbow movements of 1:1, 2:1 and 3:1 frequency ratios and the manner in which subjects cope with coordination bias. Analysis of movement trajectories in the first experiment indicated progressively greater angular velocity assimilation across 2:1 and 3:1 conditions. The desired temporal relationship was maintained by slowing or pausing

Charles B. Walter; Stephan P. Swinnen; Daniel M. Corcos; Elisana Pollaton; Hong-Yan Pan

1997-01-01

243

Unilateral headache with bilateral internal ophthalmoplegia.  

PubMed

We describe the case of a young woman suffering from migraine. After some years, the headache started to be accompanied by internal ophthalmoplegia. Mydriasis was unilateral and after a few months became bilateral. The ophthalmoplegic migraine is a rare type of headache and it is characterized by paresis of one or more of the third, fourth or sixth cranial nerves. Migraine attacks associated with mydriasis (internal ophthalmoplegia) are extremely rare. Triptan therapy resolved mydriasis, but not the headache. PMID:22183266

Simonetto, Marco; Zanet, Luca; Capozzoli, Francesca; Gelli, Andrea; Masč, Giovanni

2012-10-01

244

Bilateral stenting methods for hilar biliary obstructions  

PubMed Central

OBJECTIVE: There is no consensus regarding the most appropriate methods (i.e., the side-by-side versus the stent-in-stent technique) for placing bilateral stents for malignant hilar biliary obstructions. We aimed to perform a quantitative review of the published data regarding the clinical efficacy of the side-by-side and stent-in-stent bilateral drainage techniques for hilar biliary obstructions. METHODS: A comprehensive search of several databases was conducted and a fixed-effects or random-effects model was used to pool the data from all of the study end-points. RESULTS: Four clinical trials were identified. A comparison of the side-by-side and stent-in-stent groups revealed no significant differences with respect to the rates of successful placement, successful drainage, early complications, late complications and stent occlusions. There were also no significant inter-group differences in stent patency and patient survival and no publication bias was observed. CONCLUSIONS: The performance of the side-by-side technique appears to be similar to that of the stent-in-stent technique for bilateral drainage in patients with malignant hilar biliary obstructions. PMID:25318098

Hong, Wandong; Chen, Shanxi; Zhu, Qihuai; Chen, Huichun; Pan, Jingye; Huang, Qingke

2014-01-01

245

High Performance, Three-Dimensional Bilateral Filtering  

SciTech Connect

Image smoothing is a fundamental operation in computer vision and image processing. This work has two main thrusts: (1) implementation of a bilateral filter suitable for use in smoothing, or denoising, 3D volumetric data; (2) implementation of the 3D bilateral filter in three different parallelization models, along with parallel performance studies on two modern HPC architectures. Our bilateral filter formulation is based upon the work of Tomasi [11], but extended to 3D for use on volumetric data. Our three parallel implementations use POSIX threads, the Message Passing Interface (MPI), and Unified Parallel C (UPC), a Partitioned Global Address Space (PGAS) language. Our parallel performance studies, which were conducted on a Cray XT4 supercomputer and aquad-socket, quad-core Opteron workstation, show our algorithm to have near-perfect scalability up to 120 processors. Parallel algorithms, such as the one we present here, will have an increasingly important role for use in production visual analysis systems as the underlying computational platforms transition from single- to multi-core architectures in the future.

Bethel, E. Wes

2008-06-05

246

Bilateral limbic system destruction in man  

PubMed Central

We report here a case study of a rare neurological patient with bilateral brain damage encompassing a substantial portion of the so-called “limbic system.” The patient, Roger, has been studied in our laboratory for over 14 years and the current article presents his complete neuroanatomical and neuropsychological profiles. The brain damage occurred in 1980 following an episode of herpes simplex encephalitis. The amount of destroyed neural tissue is extensive and includes bilateral damage to core limbic and paralimbic regions, including the hippocampus, amygdala, parahippocampal gyrus, temporal poles, orbitofrontal cortex, basal forebrain, anterior cingulate cortex, and insular cortex. The right hemisphere is more extensively affected than the left, although the lesions are largely bilateral. Despite the magnitude of his brain damage, Roger has a normal IQ, average to above average attention, working memory, and executive functioning skills, and very good speech and language abilities. In fact, his only obvious presenting deficits are a dense global amnesia and a severe anosmia and ageusia. Roger's case presents a rare opportunity to advance our understanding of the critical functions underlying the human limbic system, and the neuropsychological and neuroanatomical data presented here provide a critical foundation for such investigations. PMID:19763994

Feinstein, Justin S.; Rudrauf, David; Khalsa, Sahib S.; Cassell, Martin D.; Bruss, Joel; Grabowski, Thomas J.; Tranel, Daniel

2010-01-01

247

Diagnosis and management of bilateral nasolabial cysts.  

PubMed

Nasolabial cysts are painless, submucosal, non-odontogenic jaw cysts presenting as soft tissue swellings in the maxillary anterior mucolabial fold lateral to midline, leading to elevation of nasal ala. Present case documents bilateral nasolabial cysts in a 69-year-old Asian female patient. In the present case, extraoral swelling of maxillary lip and elevation of nasal ala was observed on right side of the face. Intraorally, soft and fluctuant bilateral cysts were observed. Straw-colored fluid was aspirated from the right cyst. Radiographically, erosion of bone in a "cupping" fashion was observed in the region of left cyst. The cysts were enucleated using intraoral approach. Histopathology of the right-sided cyst revealed a cystic cavity lined by stratified squamous cells along with a few mucosal cells. At few places, stratified squamous and pseudostratified columnar epithelia with many cilia and goblet cells were also evident. Capsule was loosely arranged with fibrous tissue and chronic inflammatory infiltrate. Left-sided cystic specimen showed two or more layered stratified squamous lining epithelium with thin capsule. Diagnosis of bilateral nasolabial/nasoalveolar cysts was confirmed. PMID:24574670

Parwani, Rajkumar; Parwani, Simran; Wanjari, Sangeeta

2013-09-01

248

Goldenhar's syndrome.  

PubMed

We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate. PMID:626178

Feingold, M; Baum, J

1978-02-01

249

[Oto-mandibular dysplasias: genetics and nomenclature of syndromes].  

PubMed

Otomandibular dysplasia are characterised by a combination of anomalies of the ear and the mandible. From the surgical point of vue, facial dysostosis is prominent and focus the attention. For the geneticist it is a group of different entities, familial or sporadic. Familial history, detailed clinical examination looking for extra-facial associated malformations, characteristics of the facial dysostosis, unilaterality or bilaterality and biological or radiological findings allow sometimes to identify a known syndrome. A bilateral and symetric dysostosis with predominant zygomatic and malar hypoplasia suggest the diagnosis of Treacher-Collins or Franceschetti syndrome or mandibulofacial dysostosis, particularly in the presence of positive familial history. Acral anomalies associated with facial dysostosis allow the distinction between Treacher-Collins syndrome and acrofacial dysostosis (Nager and Miller syndromes). Unilateral and bilateral asymmetrical anomalies, namely facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, no. 7 cleft, first branchial arch syndrome, Goldenhar syndrome were lumping together by Gorlin in 1990, who proposed to use the term "oculoauriculovertebral spectrum". This classification is the first step before genetic studies, who need homogeneous group of patients. Lastly recurrence risk can be evaluated and genetic counselling can be done only if a precise genetic diagnosis is known. PMID:11770450

Burglen, L; Soupre, V; Diner, P A; Gonzalčs, M; Vazquez, M P

2001-10-01

250

Suspected carpal tunnel syndrome  

PubMed Central

ABSTRACT OBJECTIVE To evaluate the diagnostic utility of nerve conduction studies (NCSs) by examining a population with a high pretest probability of carpal tunnel syndrome (CTS), including bilaterally and unilaterally symptomatic patients. DESIGN Comparison of the results of NCSs with the results of prospective, pre-NCS, self-administered questionnaires of patients with clinical diagnoses of CTS referred for confirmatory NCSs. SETTING A tertiary care hospital neuro-electrophysiology laboratory. PARTICIPANTS The study population consisted of 211 patients, 156 (73.9%) of whom were female. Population mean (range) age was 46.7 (21 to 88) years. Mean (range) symptom duration was 29.3 (1 to 300) months. MAIN OUTCOME MEASURES Patient-reported symptom localization and NCS results. RESULTS Results of NCSs were normal in 83 (39.3%) patients, were consistent with CTS in 121 (57.3%) patients, and suggested non-CTS abnormalities in 7 (3.3%) patients. Bilateral symptoms were reported by 139 (65.9%) patients, and isolated unilateral symptoms were reported by 72 (34.1%) patients. Those reporting bilateral symptoms had the highest agreement with NCS results at 38.8%. Unilateral NCS abnormalities were seen in 18.0% of those reporting bilateral hand symptoms. Discordant findings, either bilateral or opposite-side neuropathies, were seen in 25.6% of those reporting isolated right-sided symptoms, and in 55.2% of those reporting isolated left-sided symptoms. Based on these data the sensitivity of the NCS results was 49.1%, with a specificity of 62.5%. The positive predictive value was 86.4%, and the negative predictive value was 20.2%. Overall accuracy was 51.4%. Likelihood ratios were 1.3 with positive results, and 0.8 with negative results. CONCLUSION In our study population NCS results did little to alter the pretest probability of CTS. Physicians using NCSs for verification of clinical diagnosis should be aware of potential limitations. PMID:20631260

Taylor-Gjevre, Regina M.; Gjevre, John A.; Nair, Bindu

2010-01-01

251

Dangerous drug interactions leading to hemolytic uremic syndrome following lung transplantation  

Microsoft Academic Search

BACKGROUND: To report our experience of a rather uncommon drug interaction, resulting in hemolytic uremic syndrome (HUS). METHODS: Two consecutive cases of hemolytic uremic syndrome were diagnosed in our service. In both patients the use of macrolides in patients taking Tacrolimus, resulted in high levels of Tacrolimus. RESULTS: The first patient was a 48 years old female with Bilateral emphysema.

Haralabos Parissis; Kate Gould; John Dark

2010-01-01

252

Surgical management of the adrenal glands in the multiple endocrine neoplasia type II syndrome  

Microsoft Academic Search

During a 30-year period (1951–1981), seventeen patients underwent bilateral adrenalectomy for established adrenal medullary disease with catecholamine excess. Fourteen patients had the MEN IIa syndrome and 3 had the MEN IIb syndrome. There was no major operative morbidity and no operative mortality.

Jon A. van Heerden; Glen W. Sizemore; J. Aidan Carney; Clive S. Grant; William H. ReMine; Sheldon G. Sheps

1984-01-01

253

Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors  

PubMed Central

Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. PMID:23050938

2012-01-01

254

[Bilateral Pulmonary Artery Banding using Ligation Clips and Facile Norwood-Glenn Procedure].  

PubMed

Bilateral pulmonary artery banding( BPAB), though a less-invasive surgical option for hypoplastic left heart syndrome (HLHS), entails considerable risk of residual pulmonary artery stenosis after de-banding. Autologous aortic reconstruction in Norwood procedure is attractive in terms of growth potential, but technically demanding. To overcome these drawbacks, we modified the 2 techniques. Eightpatients with HLHS underwent BPAB whereby ligation clips were half-closed into rhombic shape to deform bilateral pulmonary arteries. The arterial duct was kept patent by prostaglandin E1 infusion. One patient died of sepsis( age 8 months), while the 7 survivors underwent Norwood-Glenn procedure. Both pulmonary arteries were excised from the pulmonary trunk with minimal cuffs. Resultant defect in the pulmonary trunk was longitudinally closed. After arterial duct excision, pulmonary trunk-todescending aorta continuity was reconstructed by end-to-end anastomosis. Ascending aorta-to-aortic arch complex was anastomosed to the pulmonary trunk in a side-to-side fashion. After bilateral pulmonary artery continuity was reconstructed, Glenn anastomosis was made. One patient died of pneumonia(age 5 months). Currently, the 6 surviving patients(age 4?30 months), enjoy good health. Four of them have completed Fontan procedure. Our modified techniques are facile, reproducible, and pose low risk of residual pulmonary artery stenosis or aortic stenosis. PMID:24917155

Kaneko, Yukihiro; Achiwa, Ikuya; Morishita, Hiroyuki; Shibata, Miyuki

2014-04-01

255

Bilateral first branchial cleft anomaly with evidence of a genetic aetiology.  

PubMed

Anomalies of the first branchial cleft (FBC) are uncommon, and recognizing them can be difficult. Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered only rarely. Typically, FBC anomalies present as a unilateral cyst, sinus, or fistula associated with the external auditory canal, or with swelling or an inflammatory opening in the peri-auricular/parotid area. They are commonly misdiagnosed and are often treated inadequately before being excised completely. A 40-year-old woman presented to the maxillofacial outpatient clinic with an episode of bilateral pre-auricular tumefaction, initially diagnosed as temporomandibular dysfunction syndrome. This was associated with bilateral pre-auricular pain that increased with mandibular movements. In relation to the patient's history, and given the bilateral presence of a pre-auricular pit, a diagnosis of FBC anomaly was made. Further investigation showed a related asymptomatic history in five other cases across four generations of the same family. The authors describe here the case, the diagnostic methodology, and the wide local excision technique used for removal of the branchial sinus. PMID:24042065

Gonzalez-Perez, L M; Prats-Golczer, V E; Montes Carmona, J F; Heurtebise Saavedra, J M

2014-03-01

256

A Bilateral Advantage for Storage in Visual Working Memory  

PubMed Central

Various studies have demonstrated enhanced visual processing when information is presented across both visual hemifields rather than in a single hemifield (the bilateral advantage). For example, reported that observers were able to track twice as many moving visual stimuli when the tracked items were presented bilaterally rather than unilaterally, suggesting that independent resources enable tracking in the two visual fields. Motivated by similarities in the apparent capacity and neural substrates that mediate tracking and visual working memory (WM), the present work examined whether or not a bilateral advantage also arises during storage in visual WM. Using a recall procedure to assess working memory for orientation information, we found a reliable bilateral advantage; recall error was smaller with bilateral sample displays than with unilateral displays. To demonstrate that the bilateral advantage influenced storage per se rather than just encoding efficiency, we replicated the observed bilateral advantage using sequentially presented stimuli. Finally, to further characterize how bilateral presentations enhanced storage in working memory, we measured both the number and the resolution of the stored items and found that bilateral presentations lead to an increased probability of storage, rather than enhanced mnemonic resolution. Thus, the bilateral advantage extends beyond the initial selection and encoding of visual information to influence online maintenance in visual working memory. PMID:20659731

Umemoto, Akina; Drew, Trafton; Ester, Edward F.; Awh, Edward

2010-01-01

257

Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.  

PubMed

We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported before as a manifestation of Antley-Bixler syndrome. Her mother was exposed to radiation during an intravenous urogram done in the first trimester of pregnancy. Exposure to radiation has not been implicated as a cause of Antley-Bixler syndrome. PMID:17429125

Sulaiman, A R; Nawaz, H; Munajat, I; Sallehudin, A Y

2007-04-01

258

Bilateral Wilms' tumors: changing concepts in management  

SciTech Connect

Bilaterality is uncommon in Wilms' tumor, being present in 4% to 8% of the cases. We report the combined experience of two children's hospitals in one city over a 20-year period. We encountered nine cases of synchronous bilateral nephroblastoma (National Wilms' Tumor Study 3, stage V). Age at diagnosis ranged from 9 to 41 months (mean 23 months). There were five girls and four boys. Associated findings include nephroblastomatosis in three cases (33%), one of which also had a familial history; undescended testis in two cases; and minor anomalies in two other cases. Surgical treatment consisted of unilateral nephrectomy with contralateral partial nephrectomy or tumorectomy in six cases, nephrectomy with contralateral biopsy only in two cases, and the other patient had bilateral biopsies initially, followed at a later date by partial nephrectomy on one side. All patients received chemotherapy; actinomycin D (AMD) only was used in the oldest case, vincristine and AMD in five cases, to which was added cyclophosphamide in one case and adriamycin in two. Seven patients received radiation therapy. Seven out of the nine patients survived more than 2 years (77%); five are well, off chemotherapy, with no evidence of disease from 4 to 11 years after diagnosis. Two patients suffered from chronic renal failure and one died from complications after renal transplantation more than 19 years after diagnosis. The two patients who died from their disease presented with more advanced tumor. Therefore, the agressiveness of multimodal therapy can be tailored according to stage and histology, and effective chemotherapy allows maximal preservation of renal parenchyma in patients with stage I and II tumors.

Laberge, J.M.; Nguyen, L.T.; Homsy, Y.L.; Doody, D.P.

1987-08-01

259

Bilateral total Descemet's membrane detachments after strangulation  

PubMed Central

The eyes of a 25-year-old male were collected by the Utah Lions Eye Bank after his suicide by hanging. Following dissection of the corneoscleral buttons from intact globes, bilateral detached Descemet’s membranes with subsequent scrolling in the periphery were observed. We believe these findings were caused by a large increase in intraocular pressure secondary to the hanging. Lens and anterior capsule fractures after hanging have been reported, but corneal damage has never been discussed. We invite transplant surgeons and eye bank recovery specialists to share their experience of similar corneal changes in donated eyes following strangulation or hanging. PMID:21966190

Moshirfar, Majid; Betts, Brent S; Hsu, Maylon; Holz, Huck A; McEntire, Wade

2011-01-01

260

Bilateral total Descemet's membrane detachments after strangulation.  

PubMed

The eyes of a 25-year-old male were collected by the Utah Lions Eye Bank after his suicide by hanging. Following dissection of the corneoscleral buttons from intact globes, bilateral detached Descemet's membranes with subsequent scrolling in the periphery were observed. We believe these findings were caused by a large increase in intraocular pressure secondary to the hanging. Lens and anterior capsule fractures after hanging have been reported, but corneal damage has never been discussed. We invite transplant surgeons and eye bank recovery specialists to share their experience of similar corneal changes in donated eyes following strangulation or hanging. PMID:21966190

Moshirfar, Majid; Betts, Brent S; Hsu, Maylon; Holz, Huck A; McEntire, Wade

2011-01-01

261

Bilateral Hydronephrosis and Cystitis Resulting from  

PubMed Central

Ketamine associated urinary dysfunction has become increasingly more common worldwide. Point-of-care ultrasound (POCUS) is an established modality for diagnosing hydronephrosis in the emergency department. We describe a case of a young male ketamine abuser with severe urinary urgency and frequency in which POCUS performed by the emergency physician demonstrated bilateral hydronephrosis and a focally thickened irregular shaped bladder. Emergency physicians should consider using POCUS evaluate for hydronephrosis and bladder changes in ketamine abusers with lower urinary tract symptoms. The mainstay of treatment is discontinuing ketamine abuse. PMID:25035738

Abuse, Chronic Ketamine; Tran, Vu Huy; Nelson, Mathew; Nogar, Joshua; Bramante, Robert M.

2014-01-01

262

Bilateral nasolacrimal duct atresia in a cria.  

PubMed

A 2-month-old, male alpaca had a 1-month history of mucoid ocular discharge from the left eye. Signalment, history and clinical findings were suggestive of a congenital nasolacrimal outflow obstruction. A dacryocystorhinogram confirmed bilateral nasolacrimal duct atresia, which involved the distal half of both nasolacrimal ducts. In order to establish alternative outflow, a conjunctivomaxillosinusotomy and conjunctivorhinostomy were performed on the right and left eye, respectively. The surgical openings remain patent after 11 months, and there have been no clinical signs of nasolacrimal disease. PMID:18190353

Mangan, Brendan G; Gionfriddo, Juliet R; Powell, Cynthia C

2008-01-01

263

Prophylactic bilateral mastectomy and contralateral prophylactic mastectomy.  

PubMed

With increasing public awareness of the risk for breast cancer and modern techniques of reconstruction, the option of surgical prophylaxis for risk reduction is becoming increasingly popular. Bilateral prophylactic mastectomy for women at increased risk of developing breast cancer and contralateral prophylactic mastectomy for those with unilateral breast cancer seeking symmetry, risk reduction, and ease of follow-up are acceptable options for many women. However, prophylactic surgery is not an inconsequential decision, and careful consideration should be given to the risks and benefits of such procedures. PMID:24882342

Chagpar, Anees B

2014-07-01

264

Bilateral Candida endophthalmitis in a premature infant.  

PubMed

Endogenous infantile Candida endophthalmitis is a rare but potentially devastating condition resulting from sequestration of the fungus within the lens after systemic infection. We report the case of a 20-week-old girl with a history of Candida sepsis who presented with bilateral Candida albicans endophthalmitis 15 weeks after completing a 6-week course of intravenous antifungal therapy. Prompt vitrectomy resulted in salvage of the right eye, although a total retinal detachment occurred. Cataract extraction and administration of intravenous and intravitreal amphotericin B preserved vision in the left eye. PMID:23522946

Manning, Rebecca A; Carlson, Joshua N; Hein, Eric W; Weaver, R Grey; Greven, Craig M

2013-04-01

265

[Loss of psychic self-activation. Compulsive activity of obsessional type. Bilateral lenticular lesion (author's transl)].  

PubMed

After a carbon monoxide intoxication with coma of short duration, a 25 years-old man sustained a demential state and during the first weeks, a mild extrapyramidal syndrome. One year later, the mental state had progressively improved, although with a severe anterograde amnesia but the clinical picture had become unique. Let without external stimulation, the patient remained inert without any activity, often lying on his bed but not sleeping. He had lost any initiative. At the opposite, if he was stimulated, his physical, intellectual and affective performances were nearly normal, verbal fluency remaining however poor. Psychic self-activation appeared to be lost but psychic possibilities after external stimulation were nearly normal. When inactive, the patient was occupied with a mental compulsive activity. C.A.T. showed bilateral necrotizing lesions in the globus pallidus. The present case is very similar to a previously reported one. (D. Laplane et al., Rev. Neurol., 1981, 137 : 269-276) in which bilateral lenticular lesions produced the same syndrome. The pallidal area seems to play a determinant role in the processes of self-activation of psychic life. PMID:7100739

Laplane, D; Baulac, M; Pillon, B; Panayotopoulou-Achimastos, I

1982-01-01

266

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.  

PubMed

Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. PMID:23401811

Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoď, Marie-France

2013-01-01

267

Bilateral serous retinal detachment as a complication of acquired peripartum thrombotic thrombocytopenic purpura bout.  

PubMed

We report a case of a 26-year-old primigravid woman, believed to have HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome, which turned out to be a thrombotic thrombocytopenic purpura (TTP) bout. At the 40th gestational week, based on the clinical picture of HELLP syndrome, a cesarean section was performed and a dysmature male newborn was delivered. Afterwards, clinical symptoms and laboratory abnormalities persisted. Severe ADAMTS13 deficiency with the presence of inhibitory anti-ADAMTS13 antibodies revealed acquired thrombotic thrombocytopenic purpura bout, which was complicated with bilateral vision decrease due to bilateral retinal detachment. At the first ophthalmological examination, ultrasonography and binocular indirect ophthalmoscopy confirmed the diagnosis of the serous retinal detachment. After the diagnosis of acquired TTP bout, the patient was treated with multiple plasmapheresis and intravenous immunoglobulin with rapid improvement of the clinical and laboratory parameters. The ophthalmologic complications disappeared later without sequelae. At the 18-month examination, substantial visual acuity improvement without serous retinal detachment and full best corrected visual acuity were observed. PMID:21599805

Kovács, Eszter Márta; Molvarec, Attila; Rigó, János; Szabó, Antal

2011-10-01

268

Neuropathy in Wolfram syndrome.  

PubMed

Wolfram syndrome (WFS) is a degenerative disease with neurological and endocrine disorders, characterized by the association of juvenile diabetes mellitus and bilateral optic atrophy. A polyneuropathy was exceptionally described but its characteristics are not well-established. In addition to our observation, we searched all case reports of patients with WFS in the medical literature (more than 600), and selected patients who underwent an EMG: twenty-one patients underwent an EMG, which was considered as abnormal in only 8 cases. The common profile was axonal sensory-motor polyneuropathy, sometimes with marked decrease of motor conduction velocities. This neuropathy could be due to diabetes mellitus, even though microangiopathic and macroangiopathic complications are rare in WFS. Another origin for this neuropathy could be a degenerative process in relationship with WFS. PMID:20888932

Mathis, Stéphane; Maisonobe, Thierry; Neau, Jean-Philippe

2011-01-01

269

Tourette Syndrome  

MedlinePLUS

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

270

Klinefelter syndrome  

MedlinePLUS

47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

271

Sjogren's Syndrome  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations Additional resources from MedlinePlus What is Sjögren's Syndrome? Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce ...

272

Paraneoplastic Syndromes  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations What are Paraneoplastic Syndromes? Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as ...

273

Sjögren's Syndrome  

MedlinePLUS

... syndrome sometimes develops as a complication of another autoimmune disorder. Symptoms vary in type and intensity, but many ... syndrome is not known, but it is an autoimmune disorder. People with this disease have abnormal proteins in ...

274

Asperger Syndrome  

MedlinePLUS

... and symptoms of Asperger syndrome is given the diagnosis of Autism Spectrum Disorder (ASD). If a person was diagnosed with Asperger syndrome before May 2013, his or her diagnosis stays the same, but can be considered ASD ...

275

Asperger Syndrome  

MedlinePLUS

... is Asperger syndrome? Asperger syndrome (AS) is an autism spectrum disorder (ASD), one of a distinct group ... and stereotyped patterns of behavior. Other ASDs include autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not ...

276

Urgent Bilateral Endoscopic Marsupialization for Respiratory Distress due to Bilateral Dacryocystitis in a Newborn  

PubMed Central

Abstract We describe an infant with respiratory distress due to bilateral dacryocystoceles and dacryocystitis who was successfully treated with urgent bilateral endoscopic marsupialization. A male infant was brought to our outpatient department 7 days after birth, with red, acutely inflamed swellings near the medial canthal area of both eyes. From birth, there had been bluish swelling near the medial canthal area, and redness and swellings developed within 3 days. On physical examination, the child was afebrile but showed respiratory distress with coarse breathing sound. That day, the infant was admitted and treated with intravenous cefotaxime 150 mg. After withholding oral intake for appropriate preoperative fasting, urgent bilateral probing with endoscopy was done. On endoscopy, huge bilateral congenital dacryocystoceles were found. Because of its huge size, the inferior surface of the cyst was touching the nasal floor, which made probe unable to perforate the wall of dacryocystocele. Therefore, an endoscopy-assisted marsupialization of dacryocystoceles and bicanalicular silicone intubation were performed. Both swellings and erythema subsided within 48 hours postoperatively, and the patient was discharged after 72 hours from treatment. PMID:24799096

Kim, Hochang; Park, Jongyeop; Jang, Jaeho; Chun, Junwoo

2014-01-01

277

Unilateral hyperhydrosis in Pourfour du Petit syndrome.  

PubMed

Upper limp hyperhydrosis is an idiopathic disease with bilateral involvement. However, Pourfour du Petit syndrome, the opposite of Horner syndrome, may result in unilateral upper limb hyperhydrosis. It occurs following hyperactivity of the sympathetic cervical chain as a consequence of irritation secondary to trauma. We report herein two cases with Pourfour du Petit syndrome showing unilateral upper limb hyperhydrosis. The patients presented with right-sided mydriasis and ipsilateral hemifacial hyperhydrosis. The onset of disease was followed by a trauma in both patients. They underwent upper thoracic sympathectomy with favorable outcome. A history of an antecedent trauma in patients with unilateral upper limb hyperhydrosis and anisocoria may imply a possible diagnosis of Pourfour du Petit syndrome. PMID:15296919

Kara, Murat; Dikmen, Erkan; Akarsu, Cengiz; Birol, Ahu

2004-08-01

278

[Rare ocular manifestation with suspect alport syndrome].  

PubMed

The authors mention a case report of a 13 year old girl with renal disease, who visited the outpatient Department of Pediatric Ophthalmology, University Hospital Brno with subjective complaints on decreased vision of both eyes. Ophthalmologic examination showed physiological foveolar reflex on fundus and very discrete changes of the retinal pigment epithelium in macula, the fundus periphery was without pathology. OCT images showed bilateral atrophy of central macula and changes at the level of the photoreceptors. The authors describe a rare ocular manifestation of macular atrophy with suspect Alport syndrome, which strengthened the suspicion of this disease. The authors also mention other possible ocular manifestations of Alport syndrome and compare the findings with the up to date international references. Key words: Alport syndrome, X heterozygot Alport syndrome, macular atrophy, lentikonus. PMID:25032798

Krej?í?ová, I; Varadyová, B; Doležel, Z; Autrata, R; Matúšová, J; Gregorová, E

2014-06-01

279

Bilateral nodular lymphocytic conjunctivitis in a horse.  

PubMed

A Russian jumper horse presented because of an ocular perilimbal conjunctival mass and, on clinical examination, two bilateral conjunctival masses were found, of different size and conformation. Attempts at complete excision of the left eye mass and excisional biopsy of the right eye mass were performed. The left eye mass recurred rapidly, but resolved completely after topical corticosteroid therapy. The two lesions had similar histopathologic features, characterized by focal, chronic, primarily lymphocytic conjunctivitis with follicular lymphoid hyperplasia. Special histopathologic staining techniques (Gomori methenamine silver and acid fast stains) and immunohistochemistry (for CD3, BLA36 and lysozyme) failed to reveal any etiologic agents and indicated an inflammatory lesion composed of a heterogeneous population of lymphocytes and macrophages (nodular lymphocytic conjunctivitis). The lesions were indistinguishable, clinically and behaviorally, from what has been reported as 'conjunctival pseudotumor' in the horse. Equine conjunctival pseudotumor/nodular lymphocytic conjunctivitis has been reported to be unilateral and have a good prognosis after partial or complete surgical excision. This is the first reported case of bilateral nodular lymphocytic conjunctivitis in a horse and for which surgical excision alone was not curative. PMID:15762926

Stoppini, Riccardo; Gilger, Brian C; Malarkey, David E; Ratto, Alessandra; Brigati, Giampiero

2005-01-01

280

Noninvasive testing of asymptomatic bilateral hilar adenopathy  

SciTech Connect

The diagnostic strategy for asymptomatic patients with persistent bilateral bilar adenopathy often involves invasive procedures. The authors used Bayesian analysis to: (1) estimate the relative prevalences of diseases causing bilateral bilar adenopathy; (2) assess changes in the prevalence of disease by race, the presence of other clinical symptoms, and geography; and (3) determine the value of relevant noninvasive tests, including the angiotensin-converting enzyme (ACE) assay, gallium scan, and purified protein derivative (PPD), in order to assess when a strategy of watchful waiting is appropriate. The analysis indicated that the ACE assay, particularly when paired with the PPD, can identify many patients who might safely be managed without immediate invasive biopsy. Patients who are ACE+ and PPD- have an estimated probability of sarcoidosis of 0.95 or greater; patients who are ACE- and PPD+ have a probability of tuberculosis of 0.86 if black, 0.79 if white. In contrast, gallium scanning has no diagnostic role in this clinical situation. Bronchoscopic or mediastinoscopic biopsy has a limited role for patients who are ACE+ PPD- or ACE- PPD+ because of limited sensitivity. Patients who are both ACE- and PPD-, particularly if white, may have a high enough risk of lymphoma to consider invasive biopsy.

Carr, P.L.; Singer, D.E.; Goldenheim, P.; Bernardo, J.; Mulley, A.G. (Massachusetts General Hospital, Boston (USA))

1990-03-01

281

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

2009-01-01

282

Metabolic Syndrome  

MedlinePLUS

... metabolic syndrome fact sheet hOW is the metAbOlic syndrOme treAted? Increasing physical activity and losing weight are the best ways to begin to manage your condition. Medications can also treat risk factors such as ... factors for the metabolic syndrome, talk with your doctor. Your doctor can run ...

283

Aase syndrome  

MedlinePLUS

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

284

Down syndrome  

MedlinePLUS

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

285

Unilateral coronal craniosynostosis and Down syndrome.  

PubMed

There is no known correlation between Down syndrome and craniosynostosis. The authors report 2 infants with trisomy 21 and right unilateral coronal craniosynostosis. Both patients were clinically asymptomatic but displayed characteristic craniofacial features associated with each disorder. One patient underwent a bilateral fronto-orbital advancement and the other underwent an endoscopically assisted strip craniectomy with postoperative helmet therapy. Both patients demonstrated good cosmesis at follow-up. PMID:24635134

Siu, Alan; Rogers, Gary F; Myseros, John S; Khalsa, Siri S; Keating, Robert F; Magge, Suresh N

2014-05-01

286

A case of multiple synostoses syndrome  

Microsoft Academic Search

Summary A case of multiple synostoses syndrome is reported. The patient was a 20-year-old Japanese female who had bilateral humeroradio-ulnar synostoses, vertebral fusions, calcaneocuboid coalitions, fusions of Lisfranc's joints, symphalangism and, in addition, craniosynostosis. At present, it is not clearly known whether or not the multiple synososes with craniosynostosis and those without craniosynostosis represent different clinical entities. This problem should

Toyoshi Tsuruta; Masaharu Yamazaki; Tamotsu Yamazaki

1980-01-01

287

Radiologic findings in the proteus syndrome  

Microsoft Academic Search

The radiological findings in two patients with the Proteus syndrome are described. Features in our two cases not previously\\u000a mentioned or stressed include vertebral dysplasia and enlargement (megaspondylodysplasia), bilateral genu valgum, recurrent\\u000a after surgery and intraabdominal and mesenteric lipomatosis. Emergency laparotomy was performed on the first patient who had\\u000a a twisted necrotic portion of mesenteric fat. Macrodactyly, skeletal muscle atrophy

E. M. Azouz; T. Costa; N. Fitch

1987-01-01

288

The Kinetics of Leptin in Meigs' Syndrome  

Microsoft Academic Search

Objective. The aim of this study was to assess the kinetics and possible role of leptin in the pathophysiology of Meigs' syndrome.Methods. We report on a 62-year-old patient admitted for a large ovarian tumor, hydrothorax, and ascites. The patient underwent abdominal hysterectomy and bilateral adnexectomy revealing a benign ovarian fibroma and no evidence of malignant cells in the pleural or

Yoram Abramov; Shaoul O. Anteby; Mohammad Fatum; Sozos J. Fasouliotis; Vivian Barak

2001-01-01

289

Bilateral angiosarcoma of breast in a young lady  

PubMed Central

We report a young lady with bilateral angiosarcoma of breast because of its rarity. A 29 year old unmarried female presented with bilateral breast lump. She underwent bilateral mastectomy with axillary dissection histopathology of which showed low grade angiosarcoma of left breast and high grade angiosarcoma of right breast. CT Thorax revealed right hilar and right mediastenal lymph nodes. She was treated with radiotherapy and chemotherapy postoperatively. PMID:22557784

Roy, Sanjoy; Devleena; Maji, Tapas; Choudhuri, Prabir; Biswas, Jaydip; Lahiri, Debarshi

2011-01-01

290

Bilateral struma ovarii: a case mimicking an ovarian neoplasm.  

PubMed

We present a case of bilateral struma ovarii which developed postoperatively and was histopathologically diagnosed after the patient was hospitalized for investigation and treatment of tumoral anexal bilateral formations. There was no evidence of clinical malignancy or metastases. Data from the literature, together with histopathologic, diagnostic and therapeutic aspects of the disease were checked again taking into account the scarcity of this lesion, especially bilaterally. PMID:18714585

Novac, L; Niculescu, M; Simionescu, C; Stanescu, M R; Novac, M

2008-01-01

291

Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome  

PubMed Central

Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS) in the globus pallidus interna (GPi). This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects. PMID:25360233

Bae, Dae-Woong; Son, Byung-chul; Kim, Joong-Seok

2014-01-01

292

Mondini deformity in a case of Turner syndrome. A radiological finding.  

PubMed

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. PMID:21529720

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begońa; Borrŕs Perera, Montserrat; Seara Gil, Angel

2012-01-01

293

Bilateral tubal and intrauterine pregnancies diagnosed at laparoscopy.  

PubMed

A 32-year-old woman had bilateral tubal and intrauterine pregnancies after hyperovulation with clomiphene citrate and subsequent artificial insemination with husband's semen. Laparoscopic surgery revealed bilateral tubal pregnancies. Salpingectomy was performed on the left tube and linear salpingotomy was performed on the right tube. The postoperative course was uneventful. The patient delivered a healthy girl vaginally at 39 weeks' gestation. Only eight cases with bilateral and intrauterine pregnancy have been reported. The live birth rate of bilateral tubal pregnancy and intrauterine pregnancy is 60% (6/10), which is similar to that of heterotopic pregnancy. Laparoscopic surgery is effective for confirming the diagnosis and treating heterotopic pregnancy. PMID:25228435

Fukuda, Takanori; Inoue, Hiromi; Toyama, Yuina; Ichida, Tomoyuki; Uzawa, Yoshie; Monma, Mika; Kusaka, Tsuyoshi; Kohata, Yutaka

2014-10-01

294

Bilateral synchronous spermatocytic seminoma: a rare case report  

PubMed Central

Testicular tumors are very common among man under the age of 45 years. The case of bilateral synchronous testicular seminoma is very rare. We present a case of bilateral synchronous testicular seminoma stage-I in a 42-year old Indian male who came to our hospital with chief complaints of dull ache in the abdomen and groin, bilateral scrotal swelling and heaviness, left-sided scrotal swelling since last four years, and right-sided since last two years. He underwent bilateral orchidectomy followed by radiotherapy. In this case we throw light on this rare condition and discuss the management.

Yadav, Sankalp; Gupta, Nishant

2014-01-01

295

Dance Therapy with Physical Therapy for Children with Down Syndrome.  

ERIC Educational Resources Information Center

This study sought to investigate effects of a dance program on bilateral toe-standing balance and single-point static balance skills of a group of children with Down Syndrome. Thirteen experimental and 10 control group students between the ages of 3 and 13 years were assessed on toe-standing balance and single-point standing balance on the right…

Dupont, Blanche Burt; Schulmann, Diana

296

Cerebellar dysplasia and unilateral cataract in Marinesco-Sjörgen syndrome  

Microsoft Academic Search

The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported

Tracy E. Williams; Jeffrey R. Buchhalter; Michael D. Sussman

1996-01-01

297

Fetal autopsy of Meckel Gruber syndrome -a case report.  

PubMed

Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial polydactyly. One such rare case at 28 weeks of gestation was terminated and its case report with the phenotypic features, fetal autopsy and histo-pathological examination are discussed. PMID:23445452

Bolineni, Chandrika; Nagamuthu, Ezhil Arasi; Neelala, Neelaveni

2013-10-01

298

Repeated mandibular lengthening in Treacher Collins syndrome: a case report  

Microsoft Academic Search

A patient with mandibular hypoplasia associated with Treacher Collins syndrome was treated by bilateral distraction osteogenesis. Since less than optimal length was provided by the first distraction, a second corticotomy was performed in the newly formed bone 6 months after the first distraction. Thus, bone gained by distraction osteogenesis was subjected to distraction once again. New bone formation occurred after

Oya Kocabalkan; Gürsel Leblebicio?lu; Yücel Erk; Ayhan Enacar

1995-01-01

299

A case of Ross syndrome presented with Horner and chronic cough.  

PubMed

Ross syndrome is a rare sweating disorder associated with Adie's tonic pupil, decreased or diminished tendon reflex and unknown etiology. Although autonomic disturbances affecting sudomotor and vasomotor functions are seen commonly, they are rarely symptomatic. While Ross syndrome is typically characterized with dilated tonic pupil, it may be rarely manifested with miotic pupils (little old Adie's pupil), which can make diagnosis difficult. In this article, we aim to specify the atypical clinical manifestations of syndrome by means of Ross syndrome manifested by autonomic symptoms, Horner syndrome, chronic cough together with bilateral little old Adie's pupil. PMID:25288844

Baran, Aslihan; Balbaba, Mehmet; Demir, Caner F; Ozdemir, Hasan H

2014-10-01

300

A case of Ross syndrome presented with Horner and chronic cough  

PubMed Central

Ross syndrome is a rare sweating disorder associated with Adie's tonic pupil, decreased or diminished tendon reflex and unknown etiology. Although autonomic disturbances affecting sudomotor and vasomotor functions are seen commonly, they are rarely symptomatic. While Ross syndrome is typically characterized with dilated tonic pupil, it may be rarely manifested with miotic pupils (little old Adie's pupil), which can make diagnosis difficult. In this article, we aim to specify the atypical clinical manifestations of syndrome by means of Ross syndrome manifested by autonomic symptoms, Horner syndrome, chronic cough together with bilateral little old Adie's pupil. PMID:25288844

Baran, Aslihan; Balbaba, Mehmet; Demir, Caner F.; Ozdemir, Hasan H.

2014-01-01

301

A Neonate with CLOVES Syndrome  

PubMed Central

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet).

Akin, Mustafa Ali; Kurtoglu, Selim; Tubas, Filiz; Sarici, Serdar Umit

2014-01-01

302

Wolfram syndrome maps to distal human chromosome 4p  

SciTech Connect

Wolfram syndrome (MIM 222300) is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioral difficulties that often lead to suicide attempts or psychiatric hospitalizations. The Wolfram syndrome gene also predisposes heterozygous carriers to psychiatric disorders. Since these heterozygotes are common in the general population, the Wolfram syndrome gene may contribute significantly to the overall burden of psychiatric illness. Based on a linkage analysis of 11 families segregating for this syndrome, using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax=6.46 at {theta}=0.02 for marker D4S431.

Polymeropoulos, M.H. [National Center for Human genome Research, Bethesda, MD (United States); Swift, R.; Swift, M. [New York Medical College, Hawthorne, NY (United States)

1994-09-01

303

Medullary Thyroid Carcinoma with Ectopic Adrenocorticotropic Hormone Syndrome  

PubMed Central

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea. PMID:24741461

Choi, Hong Seok; Kim, Min Joo; Moon, Chae Ho; Yoon, Jong Ho; Ku, Ha Ra; Kang, Geon Wook; Na, Im Il; Lee, Seung-Sook; Lee, Byung-Chul; Park, Young Joo; Kim, Hong Il

2014-01-01

304

[Origin of bilateral-symmetrical animals (Bilateria)].  

PubMed

The paper is an attempt to attack the old problem of the origin of Bilateria by the methods of evolutionary tetrad (i.e. combination of comparative anatomy, comparative embryology, paleontology, and molecular biology). Three groups of theories of classical comparative anatomy (planulod-turbellarian, archicoelomate, and metameric) are discussed. Comparative embryology brings out clearly that the ventral side of embryo comes from the blastoporal region in all groups of Bilateria (except Chordata, where the blastoporal region corresponds to the dorsal side that is come out of the upside-down morphology of chordates) and mouth and anus comes from the anterior and posterior ends of elongated blastopore. From the point of view of paleontology, some of vendian metazoans demonstrate transitional conditions between the Radiata and Bilateria. Vendian bilaterians are metameric organisms with normal or asymmetric position of segments and could be pictured as "bilateral coelenterates" creeping on the oral surface. In Cnidaria, the expression of homologues of "Brachyury", "goosecoid", and "fork head" genes are revealed in the circular region around the mouth. In Bilateria, these genes are expressed along the elongated blastopore and around the mouth and anus. These results support the old conception on the amphistomic origin of mouth and anus as well as the homology between the oral disc of cnidarians and ventral side of Bilateria. The combination of four mentioned approaches enables us to propose the conception of the origin of Bilateria from vendian bilateral coelenterates with numerous metameric pouches of gastral cavity. Bilaterian ancestors crawled on the oral disc (= ventral side). These ancestors gave rise to both phanerosoic cnidarians and triploblastic bilaterians. Cnidarian ancestors attached to bottom by the aboral pole with the resulting degradation of aboral nerve ganglion. Bilateral symmetry of anthozoans is considered to be primitive feature for cnidarians. In case of triploblastic Bilateria, the elongated blastopore closed in the middle and subdivided into mouth and anus (amphistomy) and gastral pouches separated from the central part of gastral cavity and transformed to metameric coelomic chambers. The primary bilaterians are supposed to be complicated organisms having coelom and segmentation. The complexity of primary Bilateria provides an explanation for the abundance of highly organized organisms (arthropods, mollusks etc.) in Cambrian time. It is postulated that Ctenophora is the only group recent eumetazoans with primary axial symmetry. PMID:15559569

Malakhov, V V

2004-01-01

305

Bilateral simultaneous facial paralysis--differential diagnosis and treatment options. A case report and review of literature.  

PubMed

Bilateral facial paralysis or paresis of peripheral origin is a rare condition and therefore represents a diagnostic challenge. We here present a case of a previously healthy woman who was hospitalized for symptoms of meningitis. On the second day of her hospital stay, she developed bilateral facial paresis. Later, the patient developed also tachycardia and dysrhythmias. A thorough diagnostic procedure including lumbar puncture, routine blood investigation with serological tests, MRI of the brain, Holter monitoring and transoesophageal echocardiographia, revealed meningitis with radiculitis, facial paresis and myocarditis. The clinical triad of meningitis, radiculitis and facial palsy is known as the Bannwarth Syndrome (Lyme disease). The patient was treated with ceftriaxone and recovered well. Despite repeatedly taken serological tests, Borrelia burgdorferi immunoglobulins were not detected. Acquired bilateral facial paralysis can occur in several diseases of infectious, neurological, idiopathic, iatrogenic, toxic, neoplastic or traumatic origin. In this article, we review the differential diagnoses and treatment options of bilateral facial paresis and present a scheme that is helpful in the diagnostic evaluation of this condition. PMID:12836471

Gevers, G; Lemkens, P

2003-01-01

306

Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test.  

PubMed

A significant number of patients with bilateral vestibulopathy suffer from cerebellar ataxia and central vestibular symptoms and vice versa. We examined 31 patients presenting with the combination of gait and stance ataxia, cerebellar ocular motor signs, and a bilaterally pathological head-impulse test (HIT). Tests included neuro-orthoptical examination, electromyography and neurography, caloric irrigation, pure-tone audiogram, vestibular-evoked myogenic potentials, and volumetric magnetic resonance imaging (MRI). Only 17 of 31 patients had a pathological caloric irrigation. Twenty-three patients had evidence of polyneuropathy (predominantly mixed sensorimotor involving axonal loss and demyelination) and twenty of hypoacusis (1 unilateral and 19 bilateral). Voxel-based morphometry comparing local gray matter brain volume between patients and controls revealed cerebellar atrophy involving both the vermis and the hemispheres. We conclude that there is a clinically relevant combination of cerebellar ataxia with cerebellar atrophy, bilaterally pathological HIT, polyneuropathy, and hypoacusis. This multisensory syndrome is most likely caused by a neurodegenerative disorder affecting different systems, leading to severe impairment of affected patients. PMID:21950985

Kirchner, Hanni; Kremmyda, Olympia; Hüfner, Katharina; Stephan, Thomas; Zingler, Vera; Brandt, Thomas; Jahn, Klaus; Strupp, Michael

2011-09-01

307

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.  

PubMed

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. PMID:21667913

Banerjee, Purnajyoti; McLean, Christopher

2011-06-01

308

A very rare bilateral adrenal tumor.  

PubMed

We report a case of very rare adrenal tumor. A 54-year-old patient was classified as affected by bilateral adrenal incidentaloma that surprisingly, on histology resulted solitary fibrous tumors. Solitary fibrous tumor (SFT) is an uncommon mesenchymal neoplasm. Only five cases of localization of SFT in adrenal gland are reported in the literature, while the frequency of retroperitoneum localization is more frequent, about 30 cases. Immunohistochemically, SFT can be positive for CD34 antigen, vimentin, CD99, and bcl-2 and usually negative for cytokeratins, chromogranin A, NSE, neurofilaments, synoptophysin, and S-100. Surgical excision remains the main treatment in fact the recurrence is locoregional and correlated with positive margins due to incomplete excision, while distant metastases are correlated with atypical or malignant features. PMID:24146413

Toniato, Antonio; Boschin, Isabella Merante; Pelizzo, Maria Rosa

2014-04-01

309

Computed tomography findings in bilateral perinephric lymphangiomatosis  

PubMed Central

Perinephric lymphangioma is rare disorder that may be confused with various forms of renal cystic diseases and urinomas. In this disorder a developmental malformation results in failure of developing lymphatic tissue to establish normal communication with the rest of lymphatic system. Once there is restricted drainage of lymphatic fluid the lymphatic channels dilate to form cystic masses that may be unilocular or multilocular and may be seen unilaterally or bilaterally .This condition presents with various signs and symptoms or can be just an incidental finding which in presence of misleading clinical history may be confused with other diseases. CT scan with delayed cuts and USG guided aspiration with biochemical analysis of fluid will help us in arriving to final diagnosis. PMID:20842254

Hakeem, Aijaz; Gojwari, Tariq A; Reyaz, Sheikh; Rasool, Shubana; Shafi, Hakim; Mufti, Shahida

2010-01-01

310

Bilateral variant origin of pectoralis major.  

PubMed

The variable origin of muscles is not uncommon though the complete or partial absence of the clavicular head of pectoralis major muscle is rare. This paper deals with bilateral partial absence of clavicular head of pectoralis major muscle. The clavicular head was arising only in the middle of medial half of the clavicle and was separated from sternocostal head by a gap of 2.5cm and laterally from the origin of deltoid from clavicle by a gap of 2.5cm. Nerve supply of this muscle was from lateral and medial pectoral nerves as usual. The partial absence of the clavicular head of pectoralis major muscle becomes important in cases of reconstructive surgery as this head is required to cover the lateral acromioclavicular defect and in cases of established facial paralysis. PMID:16827097

Goyal, Neeru; Harjeet; Gupta, Madhur

2006-03-01

311

Computed tomography findings in bilateral perinephric lymphangiomatosis.  

PubMed

Perinephric lymphangioma is rare disorder that may be confused with various forms of renal cystic diseases and urinomas. In this disorder a developmental malformation results in failure of developing lymphatic tissue to establish normal communication with the rest of lymphatic system. Once there is restricted drainage of lymphatic fluid the lymphatic channels dilate to form cystic masses that may be unilocular or multilocular and may be seen unilaterally or bilaterally .This condition presents with various signs and symptoms or can be just an incidental finding which in presence of misleading clinical history may be confused with other diseases. CT scan with delayed cuts and USG guided aspiration with biochemical analysis of fluid will help us in arriving to final diagnosis. PMID:20842254

Hakeem, Aijaz; Gojwari, Tariq A; Reyaz, Sheikh; Rasool, Shubana; Shafi, Hakim; Mufti, Shahida

2010-01-01

312

Framing effect following bilateral amygdala lesion.  

PubMed

A paradigmatic example of an emotional bias in decision making is the framing effect, where the manner in which a choice is posed--as a potential loss or a potential gain--systematically biases an ensuing decision. Two fMRI studies have shown that the activation in the amygdala is modulated by the framing effect. Here, contrary to an expectation based on these studies, we show that two patients with Urbach-Wiethe (UW) disease, a rare condition associated with congenital, complete bilateral amygdala degeneration, exhibit an intact framing effect. However, choice preference in these patients did show a qualitatively distinct pattern compared to controls evident in an increased propensity to gamble, indicating that loss of amygdala function does exert an overall influence on risk-taking. These findings suggest either that amygdala does contribute to decision making but does not play a causal role in framing, or that UW is not a pure lesion model of amygdala function. PMID:20227427

Talmi, Deborah; Hurlemann, René; Patin, Alexandra; Dolan, Raymond J

2010-05-01

313

Unusual bilateral traumatic maculopathy following whiplash injury.  

PubMed

An unusual extensive bilateral macular oedema (MO) with spontaneous resolution occurred following a car crash accident. Qualitative and quantitative analysis of the macular region using spectral domain optical coherence tomography (SD-OCT) and multifocal electroretinogram (mfERG) was performed daily during the first 7?days, as well as at 3 and 6?months following the accident. SD-OCT examination demonstrated extensive MO accompanied by neurosensory detachment and subretinal fluid. During the 7?days following the accident there was gradual resolution of the oedema accompanied by visual recovery. One year later no anatomical changes were observed, the mfERG showed complete recovery and visual acuity returned to normal level. Although whiplash is a common injury in motor vehicle accidents, whiplash maculopathy (WMP) is rarely reported, most likely due to underdiagnosis. Here we describe the spontaneous resolution of a severe MO after whiplash injury in a car crash accident. PMID:25414232

Chronopoulos, Argyrios; Lipski, Andreas; Jonescu-Cuypers, Christian-Paul; Thumann, Gabriele

2014-01-01

314

Bilateral mechanical rotational vertebral artery occlusion.  

PubMed

Rotational vertebral artery occlusion, or bow hunter's stroke, is reversible, positional symptomatic vertebrobasilar ischemia. The typical mechanism of action is obstruction of a dominant vertebral artery with contralateral head rotation in the setting of baseline ipsilateral vertebral artery stenosis or occlusion. Here we present a rare case of mechanical occlusion of bilateral patent vertebral arteries manifesting as near syncope with rightward head rotation. Diagnostic cerebral angiography showed dynamic right C5 vertebral occlusion and left C2 vertebral occlusion. The patient underwent right C4/5 transverse process decompression. Postoperative angiogram showed patent flow through the right vertebral artery in neutral position and with head turn with resultant resolution of symptoms. PMID:23465174

Dargon, Phong T; Liang, Conrad W; Kohal, Anmol; Dogan, Aclan; Barnwell, Stanley L; Landry, Gregory J

2013-10-01

315

Bilateral balanced articulation: science or dogma?  

PubMed

For more than a hundred years, it has been supposed that canine guidance should be avoided in conventional complete dentures, since it would result in denture instability. Thus, bilateral balanced articulation has been held by many authors as fundamental for treatment success. However, randomized clinical trials have shown that balanced articulation is not as important as previously thought. The issue about which occlusal concept is the most appropriate for individual needs is clinically and economically relevant for both the dentist and dental technician. Therefore, the purpose of this study is to provide an evidence-based update on complete denture occlusion. Clinical Relevance: The issue about which occlusal concept is the most appropriate for individual needs is clinically and economically relevant. PMID:25073224

Farias-Neto, Arcelino; Carreiro, Adriana da Fonte Porto

2014-06-01

316

Serotonin Syndrome  

PubMed Central

Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David

2013-01-01

317

Bilateral cochlear implants in children R. Litovskya,*, P. Johnstonea  

E-print Network

patients has been bilateral implantation. To date, there is a growing number of bilateral adult CI users, participated in a series of binaural tasks at 3 and 9 months after activation of the second CI. Each child the second CI at the age of 8, but not for the older child whose second CI was received at the age of 12

Litovsky, Ruth

318

Case report: bilateral simultaneous tubeless and stentless percutaneous nephrolithotomy.  

PubMed

A 39-year-old man underwent percutaneous nephrolithotomy (PCNL) for bilateral renal stone without stent and tube insertion. To our knowledge, this is the first report of bilateral simultaneous tubeless and stentless PCNL. The advantage of this technique in renal stone surgery is discussed. PMID:18177242

Istanbulluoglu, Okan M; Ozturk, Bulent; Cicek, Tufan; Gonen, Murat; Ozkardes, Hakan

2008-01-01

319

Embarazo ectópico bilateral con embrión vivo en la trompa izquierda  

Microsoft Academic Search

Bilateral ectopic pregnancy with a live embryo is a rare occurrence. We report a case of bilateral ectopic pregnancy with live embryo in one tube and an interrupted gestation in the other tube, in a patient with no risk factors. When there is a unilateral ectopic pregnancy, even without risk factors, the other adnexal area and abdominal cavity should also

Aitziber Elvira Urdampilleta; Amaia Oyarzabal Urkiola; M. José Larraza Zandueta; Olatz Lizartza; Borja Rivero Torrejón; Juan Mari Landa Aranzabal; Miguel Ángel Giribet

2009-01-01

320

Bilateral Cochlear Implantation in Children: Experiences and Considerations  

ERIC Educational Resources Information Center

Between 2000 and 2006, the University Clinic for Ear Nose and Throat and Communication Disorders in Mainz, Germany, performed 41 bilateral cochlear implantations in children. This article addresses some of the factors to be considered in a decision to bilaterally implant a child, including the age of the child at the first implant, the length of…

Bohnert, Andrea; Spitzlei, Vera; Lippert, Karl L.; Keilmann, Annerose

2006-01-01

321

Closed cervical spine trauma associated with bilateral vertebral artery injuries  

Microsoft Academic Search

Bilateral vertebral artery injuries in closed cervical spine injuries are uncommon, but early recognition and treatment are important to prevent neurological deterioration. A case of bilateral vertebral injuries in a 35-year-old motor vehicle accident victim is presented, and the current literature is reviewed.

P. Kloen; J. D. Patterson; B. I. Wintman; R. M. Ozuna; G. W. Brick

1999-01-01

322

Bilateral laparoscopic nephrectomy with simultaneous peritoneal dialysis: a new era  

Microsoft Academic Search

Peritoneal dialysis is the treatment of choice in children with end-stage renal failure who are awaiting renal transplantation. Traditionally patients requiring bilateral nephrectomy spent time on haemodialysis prior to being converted to peritoneal dialysis during a separate operation. Bilateral synchronous retroperitoneoscopic nephrectomy with the initiation of or return to peritoneal dialysis in the immediate postoperative period was performed on three

Caroline Booth; Imran Mushtaq; Susan Rigden

2004-01-01

323

Bilateral Central Retinal Vein Occlusion Associated with Multiple Myeloma  

Microsoft Academic Search

Purpose: To report a case of simultaneous bilateral central retinal vein occlusion (CRVO) associated with multiple myeloma. Methods: A 65-year-old woman had sudden, painless loss of vision in both eyes for 20 days. Ophthalmologic examination revealed bilateral CRVO. Appropriate medical workup was conducted, and multiple myeloma was diagnosed as the underlying cause. Results: Clinical support and chemotherapy effectively controlled paraprotein

Fabio B. Aggio; Angelino J. Cariello; Manuella S. S. Almeida; Celso A. Rodrigues; Nilva S. B. de Moraes; Gisele W. B. Colleoni; Michel E. Farah

2004-01-01

324

Secondary pseudoainhum in a patient with turner syndrome.  

PubMed

Secondary pseudoainhum is an autoamputation that develops in individuals aged approximately 20 to 50 years and is caused by diseases such as keratodermas, trauma, or congenital factors. The authors report a novel case of secondary pseudoainhum in a patient with Turner syndrome (45,X) who presented with bandlike constrictions in the toes bilaterally. To the authors' knowledge, secondary pseudoainhum has not been reported to be associated with Turner syndrome. However, physicians should be aware of this potentially deforming disease in patients with Turner syndrome. PMID:25288716

Davis, Brady S; Harris, Scott; Forman, Mitchell D

2014-10-01

325

Proteus syndrome: report of a case with developmental glaucoma.  

PubMed

The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome. PMID:24882963

Sarman, Zuleyha Sik; Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

2014-06-01

326

Misdiagnosis of bilateral tubal pregnancy: a case report  

PubMed Central

Introduction The incidence of bilateral tubal pregnancy is rising due to the increase of pelvic inflammatory disease and assisted reproductive techniques. Because the clinical manifestations of bilateral tubal pregnancy are not specific, we often ignore inspection of the other fallopian tube when focusing on the lesions, which may cause misdiagnosis. Case presentation A 33-year-old Chinese woman presented with vaginal bleeding after menopause and with an abnormality found by transvaginal ultrasound scan for which she underwent laparoscopy and salpingectomy. Unfortunately, she had to undergo a repetitive laparoscopic salpingotomy for the other tubal pregnancy due to misdiagnosis of her bilateral tubal pregnancy. Conclusions The incidence of unusual presentations of ectopic pregnancies has risen. Surgeons should always keep in mind the possibility of bilateral tubal pregnancy. An attentive examination of the pelvis, especially the two fallopian tubes, is necessary to avoid missing bilateral tubal pregnancy. PMID:25312677

2014-01-01

327

Bilateral Thoracic Ganglion Cyst : A Rare Case Report  

PubMed Central

Ganglion cysts usually arise from the tissues around the facet joints. It is usually associated with degenerative cahanges in facet joints. Bilateral thoracic ganglion cysts are very rare and there is no previous case that located in bilateral intervertebral foramen compressing the L1 nerve root associated with severe radiculopathy. We report a 53 years old woman who presented with bilateral groin pain and severe numbness. Magnetic resonance imaging revealed bilateral cystic mass in the intervertebral foramen between 12th thoracal and 1st lumbar vertebrae. The cystic lesions were removed after bilateral exposure of Th12-L1 foramens. The result of hystopathology confirmed the diagnosis as ganglion cyst. The ganglion cyst may compromise lumbar dorsal ganglion when it located in the intervertebral foramen. The surgeon should keep this rare entity in their mind for differential diagnosis. PMID:23908708

Kazanci, Burak; Tehli, Ozkan; Guclu, Bulent

2013-01-01

328

Bilateral thoracic ganglion cyst : a rare case report.  

PubMed

Ganglion cysts usually arise from the tissues around the facet joints. It is usually associated with degenerative cahanges in facet joints. Bilateral thoracic ganglion cysts are very rare and there is no previous case that located in bilateral intervertebral foramen compressing the L1 nerve root associated with severe radiculopathy. We report a 53 years old woman who presented with bilateral groin pain and severe numbness. Magnetic resonance imaging revealed bilateral cystic mass in the intervertebral foramen between 12th thoracal and 1st lumbar vertebrae. The cystic lesions were removed after bilateral exposure of Th12-L1 foramens. The result of hystopathology confirmed the diagnosis as ganglion cyst. The ganglion cyst may compromise lumbar dorsal ganglion when it located in the intervertebral foramen. The surgeon should keep this rare entity in their mind for differential diagnosis. PMID:23908708

Kazanci, Burak; Tehli, Ozkan; Türkoglu, Erhan; Guclu, Bulent

2013-05-01

329

Bilateral Spontaneous Hemotympanum Secondary to Chemotherapy-Induced Thrombocytopenia  

PubMed Central

Objective To present a case of spontaneous, bilateral hemotympanum secondary to chemotherapy-induced thrombocytopenia. Methods Case report and review of the literature. Results Bilateral spontaneous hemotympanum is an exceedingly rare event. We present the first case of nontraumatic bilateral hemotympanum secondary to chemotherapy-induced thrombocytopenia in a patient with acute myelogenous leukemia. The patient presented with a 7-day history of progressive bilateral hearing loss and a platelet count of 10 × 109/L after receiving his first dose of induction chemotherapy. A small, left-sided subdural hematoma was present in this patient though no extra-aural sources of bleeding to explain the bilateral hemotympanum were identified. Conclusion Full resolution of symptoms was achieved with conservative management. PMID:24179409

Wong, Peter; Xu, Caroline; Gomaa, Nahla; Ho, Allan

2013-01-01

330

Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management  

PubMed Central

Von Hippel Lindau (VHL) syndrome has a predilection to manifest multiple haemangioblastomas in the retina and central nervous system. We report a rare case of raised intracranial pressure during bilateral laparoscopic adrenalectomy for pheochromocytoma in a patient of VHL syndrome who had a ventriculoperitoneal shunt. PMID:25386452

Mungasuvalli, Nagaraj Channappa; Chinnappa, Jithendra; Iyer, Sadasivan Shanker; Thammanna, Prathima Padavarahalli

2014-01-01

331

Down's syndrome.  

PubMed

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world. PMID:12699967

Roizen, Nancy J; Patterson, David

2003-04-12

332

A Case of Blau Syndrome  

PubMed Central

We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist. PMID:24876985

Chauhan, Krati; Michet, Clement

2014-01-01

333

Exercise Induced Rhabdomyolysis with Compartment Syndrome and Renal Failure  

PubMed Central

Exertional rhabdomyolysis is sequela that is occasionally seen after strenuous exercise. The progression to compartment syndrome or renal failure is a rare complication that requires prompt recognition and treatment to prevent morbidity (Giannoglou et al. 2007). We present a case of a 22-year-old college football player who presented to the emergency department (ED) after a typical leg workout as part of his weight conditioning. He was found to have rhabdomyolysis with evidence of renal insufficiency. His condition progressed to bilateral compartment syndrome and renal failure requiring dialysis. After bilateral fasciotomies were performed he had resolution of his compartment syndrome. He continued to be dialysis dependent and had no return of his renal function at discharge 12 days after admission. PMID:25105034

Bhalla, Mary Colleen; Dick-Perez, Ryan

2014-01-01

334

Aicardi syndrome.  

PubMed

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome. PMID:22815034

Singh, Paramdeep; Goraya, Jatinder Singh; Saggar, Kavita; Ahluwalia, Archana

2012-07-01

335

[Kounis syndrome].  

PubMed

Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226

Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M

2012-01-01

336

Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome.  

PubMed

Two cases are presented of absence of the septum pellucidum associated with bilateral polymicrogyria. In one case a circumscribed, completely enclosed cavity was present in the white matter of one cerebral hemisphere, different in structure from typical prenatal porencephaly. It is suggested that these cases represent a "forme fruste" of the syndrome of absent septum, bilateral porencephaly, polymicrogyria and heterotopia and may be ascribed to a similar, if less severe, encephaloclastic process of debatable etiology, operating around the midterm of pregnancy. PMID:2776383

Siejka, S; Strefling, A M; Urich, H

1989-01-01

337

A case of Bonneau syndrome associated with multiple renal cortical cysts.  

PubMed

We describe a 2-month-old girl with congenital anomalies including facial anomalies, complex cardiac anomalies, polysyndactyly, dysgenesis of distal extremities and bilateral multiple renal cysts. The proband was the child of first-cousin parents. Clinical synopsis in Bonneau syndrome (OMIM: 263630) is polysyndactyly and cardiac malformation. In addition, liver anomalies were reported in two patients. We discuss polysyndactyly and cardiac malformation with bilateral multiple renal cysts, a combination not reported previously. PMID:19400539

Olgun, H; Orbak, Z; Tatar, A; Sepetcigil, O

2009-01-01

338

Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: Tips and pitfalls  

Microsoft Academic Search

ObjectivesTreacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant disorder of the cranio-facial morphogenesis affecting 1 of 50,000 live newborns. Most children with this disease present with bilateral, severe conductive hearing loss due to bilateral aural atresia. Auditory rehabilitation of these children can be effectively carried out with bone-anchored hearing aids (Baha). The aim of this retrospective

Pasquale Marsella; Alessandro Scorpecci; Concettina Pacifico; Luigi Tieri

2011-01-01

339

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene  

PubMed Central

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated. PMID:21266030

2011-01-01

340

Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome.  

PubMed

Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. Clinical hallmarks are bilateral interstitial keratitis and vestibuloauditory dysfunction. Association between CS and systemic vasculitis as well as aortitis also exists. The diagnosis of CS is based upon presence of characteristic inflammatory eye disease and vestibuloauditory dysfunction. We describe classic Cogan's syndrome in a 47-year-old female from Ardabil. The patient was admitted with headache, vertigo, nausea, vomiting, right leg claudication, musculoskeletal pains, bilateral hearing loss, and blindness for the past two months. Ophthalmologic examination revealed that visual acuity was 0.1 bilaterally. Conjunctival hyperemia, bilateral cataract, and interstitial keratitis were detected with a slit lamp examination. Pure tone audiogram (PTA) and auditory brain stem response (ABR) showed bilateral sensorineural hearing loss. The other differential diagnosis of CS was studied and ruled out. Pulse i.v. methylprednisolone and cyclophosphamide were given and were followed by oral prednisolone and cyclophosphamide. Clinical follow-up showed partial improvement. PMID:24715922

Azami, Ahad; Maleki, Nasrollah; Kalantar Hormozi, Mohammadreza; Tavosi, Zahra

2014-01-01

341

Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome  

PubMed Central

Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. Clinical hallmarks are bilateral interstitial keratitis and vestibuloauditory dysfunction. Association between CS and systemic vasculitis as well as aortitis also exists. The diagnosis of CS is based upon presence of characteristic inflammatory eye disease and vestibuloauditory dysfunction. We describe classic Cogan's syndrome in a 47-year-old female from Ardabil. The patient was admitted with headache, vertigo, nausea, vomiting, right leg claudication, musculoskeletal pains, bilateral hearing loss, and blindness for the past two months. Ophthalmologic examination revealed that visual acuity was 0.1 bilaterally. Conjunctival hyperemia, bilateral cataract, and interstitial keratitis were detected with a slit lamp examination. Pure tone audiogram (PTA) and auditory brain stem response (ABR) showed bilateral sensorineural hearing loss. The other differential diagnosis of CS was studied and ruled out. Pulse i.v. methylprednisolone and cyclophosphamide were given and were followed by oral prednisolone and cyclophosphamide. Clinical follow-up showed partial improvement. PMID:24715922

Azami, Ahad; Kalantar Hormozi, Mohammadreza; Tavosi, Zahra

2014-01-01

342

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study†  

PubMed Central

BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploin-sufficiency of SF1 has been described in several 46,XY individuals with mild gonadal dysgenesis and impaired androgenization, but normal adrenal function, suggesting that dosage-sensitive or domain-specific effects of SF1 action are important in human testicular development and function. Our objective was to investigate whether partial defects in SF1 function might be associated with milder male reproductive phenotypes, such as bilateral anorchia (‘vanishing testis syndrome’) and micropenis. METHODS This study involved mutational analysis of NR5A1 in 24 individuals with bilateral anorchia and micropenis from the French Collaborative Anorchia study, as well as in vitro functional studies of SF1-dependent transcriptional activation and computer modeling. RESULTS A novel heterozygous missense mutation (V355M) in SF1 was found in one boy with a micropenis and testicular regression syndrome. This non-synonymous change was found to affect a highly conserved amino acid within helix 7 of the ligand-binding domain of SF1. This V355M mutation did not affect stability or nuclear localization, but did result in an ~50% reduction in SF1 activity in several different assay systems. CONCLUSIONS In conclusion, heterozygous partial loss of function mutations in SF1 may be associated with bilateral anorchia (‘vanishing testis syndrome’) and micropenis in humans. PMID:17940071

Philibert, Pascal; Zenaty, Delphine; Lin, Lin; Soskin, Sylvie; Audran, Francoise; Leger, Juliane; Achermann, John C.; Sultan, Charles

2010-01-01

343

Connectivity-Based Parcellation of the Thalamus Explains Specific Cognitive and Behavioural Symptoms in Patients with Bilateral Thalamic Infarct  

PubMed Central

A novel approach based on diffusion tractography was used here to characterise the cortico-thalamic connectivity in two patients, both presenting with an isolated bilateral infarct in the thalamus, but exhibiting partially different cognitive and behavioural profiles. Both patients (G.P. and R.F.) had a pervasive deficit in episodic memory, but only one of them (R.F.) suffered also from a dysexecutive syndrome. Both patients had an MRI scan at 3T, including a T1-weighted volume. Their lesions were manually segmented. T1-volumes were normalised to standard space, and the same transformations were applied to the lesion masks. Nineteen healthy controls underwent a diffusion-tensor imaging (DTI) scan. Their DTI data were normalised to standard space and averaged. An atlas of Brodmann areas was used to parcellate the prefrontal cortex. Probabilistic tractography was used to assess the probability of connection between each voxel of the thalamus and a set of prefrontal areas. The resulting map of corticothalamic connections was superimposed onto the patients’ lesion masks, to assess whether the location of the thalamic lesions in R.F. (but not in G. P.) implied connections with prefrontal areas involved in dysexecutive syndromes. In G.P., the lesion fell within areas of the thalamus poorly connected with prefrontal areas, showing only a modest probability of connection with the anterior cingulate cortex (ACC). Conversely, R.F.’s lesion fell within thalamic areas extensively connected with the ACC bilaterally, with the right dorsolateral prefrontal cortex, and with the left supplementary motor area. Despite a similar, bilateral involvement of the thalamus, the use of connectivity-based segmentation clarified that R.F.’s lesions only were located within nuclei highly connected with the prefrontal cortical areas, thus explaining the patient’s frontal syndrome. This study confirms that DTI tractography is a useful tool to examine in vivo the effect of focal lesions on interconnectivity brain patterns. PMID:23755128

Serra, Laura; Cercignani, Mara; Carlesimo, Giovanni A.; Fadda, Lucia; Tini, Nadia; Giulietti, Giovanni; Caltagirone, Carlo; Bozzali, Marco

2013-01-01

344

Case Reports: Symptomatic Bilateral Talonavicular Coalition  

PubMed Central

Congenital talonavicular coalition is reported less frequently than talocalcaneal or calcaneonavicular coalition and represent approximately 1% of all tarsal coalitions. Although reportedly transmitted as an autosomal-dominant disorder, tarsal coalition may be inherited as an autosomal-recessive trait. It has been associated with various orthopaedic anomalies, including symphalangism, clinodactyly, a great toe shorter than the second toe, clubfoot, calcaneonavicular coalition, talocalcaneal coalition, and a ball-and-socket ankle. Patients with talonavicular coalitions are usually asymptomatic and rarely undergo surgical treatment. We report the case of a 24-year-old woman with symptomatic bilateral talonavicular coalitions and previously unreported associated anomalies (nail hypoplasia and metatarsus primus elevatus) and review the relevant literature. The patient underwent surgery (calcaneocuboid joint distraction arthrodesis and a proximal plantar flexion osteotomy with a dorsal open wedge of the first metatarsal). At 1-year followup, she was pain-free with better alignment of both feet and showed radiographic consolidation of the arthrodesis. Although this condition is less likely to be clinically important than other tarsal fusions, it sometimes can be painful enough for the patient to undergo surgery. PMID:18791772

Migues, Atilio; Suarez, Esteban; Galan, Hernan L.

2008-01-01

345

Case reports: symptomatic bilateral talonavicular coalition.  

PubMed

Congenital talonavicular coalition is reported less frequently than talocalcaneal or calcaneonavicular coalition and represent approximately 1% of all tarsal coalitions. Although reportedly transmitted as an autosomal-dominant disorder, tarsal coalition may be inherited as an autosomal-recessive trait. It has been associated with various orthopaedic anomalies, including symphalangism, clinodactyly, a great toe shorter than the second toe, clubfoot, calcaneonavicular coalition, talocalcaneal coalition, and a ball-and-socket ankle. Patients with talonavicular coalitions are usually asymptomatic and rarely undergo surgical treatment. We report the case of a 24-year-old woman with symptomatic bilateral talonavicular coalitions and previously unreported associated anomalies (nail hypoplasia and metatarsus primus elevatus) and review the relevant literature. The patient underwent surgery (calcaneocuboid joint distraction arthrodesis and a proximal plantar flexion osteotomy with a dorsal open wedge of the first metatarsal). At 1-year followup, she was pain-free with better alignment of both feet and showed radiographic consolidation of the arthrodesis. Although this condition is less likely to be clinically important than other tarsal fusions, it sometimes can be painful enough for the patient to undergo surgery. PMID:18791772

Migues, Atilio; Slullitel, Gastón A; Suárez, Esteban; Galán, Hernan L

2009-01-01

346

Modified bilateral-filter for illumination equalization  

NASA Astrophysics Data System (ADS)

Variation in illumination conditions through a scene is a common issue for classification, segmentation and recognition applications. Traffic monitoring and driver assistance systems have difficulty with the changing illumination conditions at night, throughout the day, with multiple sources (especially at night) and in the presence of shadows. The majority of existing algorithms for color constancy or shadow detection rely on multiple frames for comparison or to build a background model. The proposed approach uses a novel color space inspired by the Log-Chromaticity space and modifies the bilateral filter to equalize illumination across objects using a single frame. Neighboring pixels of the same color, but of different brightness, are assumed to be of the same object/material. The utility of our algorithm is studied over day and night simulated scenes of varying complexity. The objective is not to provide a product for visual inspection but rather an alternate image with fewer illumination related issues for other algorithms to process. The usefulness of the filter is demonstrated by applying two simple classifiers and comparing the class statistics. The hyper-log-chromaticity image and the filtered image both improve the quality of the classification relative to the un-processed image.

Brisebois, Samuel; Gartley, M.

2011-06-01

347

Exploring the benefits of bilateral cochlear implants.  

PubMed

Several recent reports indicate that both localization and speech intelligibility in spatially separated noise are substantially improved by using cochlear implants (CIs) in both ears rather than in just one. Benefits appear to be largely derived from the effects of level variations at the two ears due to the head shadow whereas contributions from interaural time differences (ITDs) seem smaller than in normal hearing listeners. The effect of binaural unmasking estimated from speech studies to date varies from study to study and is possibly confounded by issues such as listening experience, bias or loudness effects when comparing the performance for the better ear with that using both ears. To improve the contribution from timing information at the two ears, it may be necessary to change present clinical sound-processing schemes that currently preserve only envelope cues so that they also preserve fine-timing information. However, recently published data show that basic psychophysical sensitivity to fine-timing ITDs in CI patients is very poor for rates beyond a few hundred hertz, suggesting that subjects do not actually hear ITD cues at those rates anyway. Data from a number of new studies are presented to discuss these and other issues related to the potential to benefit from bilateral implantation. PMID:15205551

van Hoesel, Richard J M

2004-01-01

348

Wolf syndrome  

Microsoft Academic Search

Since the initial description in 1965 of Wolf syndrome, or deletion of the short arm of chromosome number four, over one hundred cases have been reported. Much less, however, has been published on the radiologic findings in this disorder. We report a case with both typical and unusual features of the 4p- syndrome, including “bottle opener” deformity of the clavicles,

D. S. Katz; T. H. Smith

1991-01-01

349

Joubert Syndrome  

MedlinePLUS

... our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. ...

350

Barth syndrome  

Microsoft Academic Search

Key words Disease name and synonyms Definition\\/diagnostic criteria Epidemiology Abstract Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. The disease can be slowly progressive or sudden. In most cases, Barth syndrome

Pascale de Lonlay; Dimitri Schlemmer; Paola Melacini

351

Stroke Syndromes  

Microsoft Academic Search

We gave a short overview of the most important stroke syndromes in the clinical setting. Knowledge of these syndromes helps\\u000a to understand the complex pathophysiology of cerebral ischemia. Combination of clinical findings with the data from the new\\u000a and evolving imaging techniques certainly facilitates and improves care for stroke patients.

Georg Gahn

352

Pfeiffer syndrome  

Microsoft Academic Search

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1

Annick Vogels; Jean-Pierre Fryns

2006-01-01

353

Bazex Syndrome*  

PubMed Central

Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922

Rodrigues Junior, Ismael Alves; Gresta, Leticia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintao

2013-01-01

354

Hepatorenal Syndrome  

Microsoft Academic Search

Hepatorenal syndrome (HRS) is a serious event during the course of decompensated cirrhosis. Although the most characteristic feature of the syndrome is a functional renal failure due to intense renal vasoconstriction, it is a more generalized process affecting the heart, brain and splanchnic organs. There are two types of HRS. Type 1 HRS is characterized by a rapidly progressive impairment

Mónica Guevara; Pere Ginčs

2005-01-01

355

KBG syndrome  

Microsoft Academic Search

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and

Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola

2006-01-01

356

Marfan Syndrome  

MedlinePLUS

... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

357

Poland syndrome  

PubMed Central

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

2014-01-01

358

Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia  

PubMed Central

Sphenoid sinus mucocele comprises only 2% of all paranasal sinus mucoceles. In literature, there is a case report on sphenoidal mucocele causing bilateral optic neuropathy, with unilateral partial recovery and cranial nerve palsy, but we did not come across any literature with bilateral optic neuropathy and ophthalmoplegia together caused by spheno-ethmoidal mucocele. We present such a rare case of spheno-ethmoidal mucocele causing bilateral optic neuropathy and unilateral sixth nerve palsy who had postsurgery, unilateral good vision recovery, and complete resolution of sixth nerve palsy. PMID:23571243

Selvakumar, Ambika; Mahalaxmi, Balasubramanyam; Ananth, V; Gautam, Cugati

2014-01-01

359

Bilateral Tibial Tubercle Sleeve Fractures in a Skeletally Immature Patient  

PubMed Central

Tibial tubercle sleeve fracture is a rare injury. In concept, it is similar to the patellar sleeve fracture in a skeletally immature patient. We describe a unique case of simultaneous bilateral tibial tubercle sleeve fractures in a 12-year-old boy. Radiographs and MRI confirmed the injury. The patient underwent open surgical repair of bilateral sleeve fractures with suture anchor fixation. At the final followup, 3 years after his initial injury, the patient demonstrated full knee function bilaterally without radiographic evidence of growth disturbances. PMID:23691395

Desai, Rasesh R.; Parikh, Shital N.

2013-01-01

360

Male breast cancer: presenting as synchronous, large, bilateral masses.  

PubMed

Male breast cancer is a very rare neoplasm which accounts for 1% of all breast cancers. A 70-year-old male presented with a rapidly growing, bilateral breast masses with large size, surface ulceration and bloody discharge. Synchronous bilateral breast cancer was diagnosed by using fine needle aspiration cytology, mammography, ultrasonography and incisional biopsy. Histopathological studies revealed invasive ductal carcinoma (not otherwise specified), which was of grade III in left breast and of grade II in right breast. We are presenting this case with its clinico-pathological findings, as synchronous bilateral breast cancer occurs extremely rarely in males. PMID:24959456

Jagtap, Sunil Vitthalrao; Chougule, P G; Khatib, Wasim; Shukla, Dhirajkumar B; Jagtap, Swati Sunil

2014-04-01

361

Renal failure in Hay-Wells syndrome.  

PubMed

Ectodermal dysplasia (ED) is a group of disorders involving developmental defects of the ectodermal structures, with abnormalities in the skin, hair, nails and sweat glands. Ankyloblepharon - ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is characterized by eyelid fusion, ED and cleft lip/palate. We report a 15-year-old Omani boy with AEC syndrome who presented with end-stage renal disease (ESRD) requiring renal replacement therapy. Genitourinary anomalies including hypospadiasis, posterior urethral stricture and bilateral vesicoureteric reflux were noted. These led to secondary focal segmental glomerulosclerosis and ESRD. Screening for genitourinary anomalies and renal function tests must be performed in all patients with ED to facilitate early detection of renal disease and appropriate management. PMID:24231488

Mohan, Dhanya; Sugathan, Dileep K; Railey, Mohammed; Alrukhaimi, Mona

2013-11-01

362

Aicardi syndrome in two Turkish children.  

PubMed

Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients. Central nervous system, ocular, and costovertebral malformations may also seen in AS. Eye findings are of a considerable diagnostic importance; the chorioretinal lacunae are pathognomonic for AS and are generally bilateral. The outcome of the disease is generally severe, with a high mortality rate and poor developmental outcome. It is not clear which characteristics of the syndrome are related to a good prognosis in terms of psychomotor development, epileptic seizures, and survival. The purpose of this report was to demonstrate the spectrum of the clinical findings and the course of AS in two Turkish patients with different ocular and cranial MRI findings. PMID:22750766

Bayram, Erhan; Topcu, Yasemin; Akinci, Gulcin; Hiz, Semra; Cakmakci, Handan

2013-01-01

363

Intraocular Lens Subluxation in Marfan Syndrome  

PubMed Central

Purpose : Ectopia lentis (EL) is a major criteria for the diagnosis of Marfan syndrome, it may vary from an asymptomatic mild displacement to a significant subluxation that places the equator of the lens in the pupillary axis. The purpose of this work is to present the case of a patient with Marfan syndrome who received treatment for subluxation at our institution. Case Report : A 51-year-old female diagnosed with Marfan syndrome presented to the emergency department with bilateral eye redness, foreign body sensation and crusting around the eyes on awakening. She had the following history of cardiac and ophthalmologic complications, including: 1. Lens subluxation 2. High myopia 3. Aortic root dilation, 4. Mitral valve prolapse and 5. Tricuspid insufficiency. Conclusion : The ophthalmological management of Marfan patients is challenging and periodical follow-up is needed. Surgical versus conservative management is controversial, each case needs to be evaluated individually to analyze the risks and benefits of the procedures. PMID:25279020

Rodrigo, Bolanos-Jimenez; Paulina, Lopez-Lizarraga E; Francesc, March de R; Eduardo, Telich-Tarriba J; Alejandro, Navas

2014-01-01

364

Electromyographic feedback in the treatment of bilateral facial paralysis: a case study.  

PubMed

Electromyographic feedback in the treatment of facial paralysis has been shown to be a useful alternative to surgical procedures. In this paper we report on the partial recovery of a 7-year-old patient with congenital bilateral facial paralysis (Moebius syndrome) that had been considered untreatable by medical specialists. Biofeedback of electromyographic activity was provided together with specific instructions, social reinforcement, and exercises that the patient carried out at home. The rehabilitation training lasted 1 year, during which there was a substantial increase in the electromyographic activity of the muscles on both sides of the face. A follow-up after 1 year of discontinuing the treatment showed that the muscle activity had been maintained and that there was a marked improvement in the patient's mood and facial expression. PMID:1447762

Gallegos, X; Medina, R; Espinoza, E; Bustamante, A

1992-10-01

365

A Case of Neuromyelitis Optica Masquerading as Miller Fisher Syndrome  

PubMed Central

A 22-year-old woman presented with double vision that she had experienced since an infection 2 weeks previously. A neurological examination showed limited bilateral eye abduction, mimicking Miller Fisher syndrome. However, T2-weighted magnetic resonance imaging of her brain revealed hyperintense areas in the tegmentum of the pons, including the abducens nucleus, and her serum anti-aquaporin-4 antibody test was positive. She was finally diagnosed with neuromyelitis optica. Intravenous high-dose steroid therapy immediately improved the patient's abduction palsy, but bilateral optic neuritis manifested during the treatment. Subsequent treatment with plasma exchange improved her optic neuritis symptoms. PMID:25408664

Furutani, Yuka; Hata, Masayuki; Miyamoto, Kazuaki; Moribata, Yusaku; Yoshimura, Nagahisa

2014-01-01

366

Synchronous bilateral neuroendocrine ductal carcinoma in situ.  

PubMed

Neuroendocrine ductal carcinoma in situ (NE-DCIS) is a breast malignancy that has characteristic clinicopathological features and can, therefore, be regarded as a distinct variant of DCIS. The patient was a 54-year-old premenopausal woman with hemorrhagic nipple discharge in her left breast. Magnetic resonance imaging and ultrasound (US) images of the left breast showed mass-like lesions, while concurrent images of the right breast showed non-mass-like lesions. These findings suggested the presence of both benign and malignant tumors. Pathological findings from US-guided core-needle biopsy of the left mass were highly suspicious of a malignant tumor. Excisional biopsy of both breasts was performed. We could define the diagnosis of breast cancer by the second opinion on pathological diagnosis. The tumor cells showed histological characteristics of NE-DCIS. Bilateral breast lesions had histopathological similarities and were composed of predominantly solid growth of carcinoma cells, frequently with well-developed vascular structures, in mammary ducts and ductules. Carcinoma cells were polygonal or occasionally spindle shaped and had fine-granular, relatively eosinophilic cytoplasm. The nuclei of these cells showed round to ovoid in shape and fine-granular chromatin pattern. There was not any invasive component, as confirmed by careful histological examination. Thus, additional immunohistochemical stainings for NE markers (chromogranin A and synaptophysin) were performed. Staining statuses of these markers were positive in almost all tumor cells from both breasts. Both tumors were therefore diagnosed as NE-DCIS. To our knowledge, this case is the first report of NE-DCIS diagnosed synchronously in both breasts. PMID:21735237

Honami, Hisae; Sotome, Keiichi; Sakamoto, Goi; Iri, Hisami; Tanaka, Yoichi; Fukamachi, Shigeru; Morozumi, Kyoei

2014-07-01

367

Bilateral parotitis as the initial presentation of childhood sarcoidosis.  

PubMed

The differential diagnosis of bilateral parotid gland enlargement in children includes infectious, inflammatory, and neoplastic disorders. We present the case of a 13-year-old male who presented with a 5-week history of bilateral parotid swelling. On exam, both parotid glands were nontender, smooth, and diffusely enlarged. He had slightly elevated inflammatory markers, but other lab results were normal. A neck CT revealed symmetric enlargement of the parotid, submandibular, and sublingual glands. A chest CT revealed scattered peripheral pulmonary nodules and bilateral hilar adenopathy. A parotid gland biopsy showed multiple noncaseating granulomas with multinucleated giant cells surrounded by lymphocytes, consistent with the diagnosis of sarcoidosis. Special stains for acid-fast and fungal organisms were negative. Using this illustrative case, we discuss the differential diagnosis of bilateral salivary gland enlargement in children and review the etiology, diagnosis, clinical manifestations, and treatment of pediatric sarcoidosis. PMID:23102965

Banks, Gretchen C; Kirse, Daniel J; Anthony, Evelyn; Bergman, Simon; Shetty, Avinash K

2013-01-01

368

Ureteral triplication, contralateral duplication and bilateral extravesical ectopic ureter.  

PubMed

A case of ureteral triplication associated with contralateral ureteral duplication and bilateral extravesical ectopic ureter is reported. The child presented with urinary incontinence. The incidence, classification and embryology of triplication are reviewed. PMID:4032556

Youngson, G G

1985-09-01

369

Simultaneous Bilateral MIS-TKA Results in Faster Functional Recovery  

PubMed Central

Simultaneous bilateral TKAs subject patients to more arduous and painful functional recovery and increased risk of hemodynamic complications than staged bilateral TKAs. Minimally invasive TKA (MIS-TKA) reportedly results in more rapid return of function by limiting the amount of soft tissue disruption. We asked whether bilateral MIS-TKA had advantages over conventional TKA with respect to faster functional recovery. We prospectively randomized 30 patients into an MIS group (mini-medial parapatellar approach, 15 patients) and a conventional group (conventional medial parapatellar approach, 15 patients). We recorded range of motion and the time required to regain the ability to walk without assistance. Functional recovery in the MIS group was faster in rehabilitation milestones of walking without assistance and gain in range of motion. Minimally invasive TKA may benefit patients undergoing simultaneous bilateral procedures with faster functional recovery. Level of Evidence: Level II, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence. PMID:18351423

Han, Ilkyu; Seong, Sang Cheol; Lee, Sahnghoon; Yoo, Jae Ho

2008-01-01

370

Cooled Radiofrequency Ablation for Bilateral Greater Occipital Neuralgia  

PubMed Central

This report describes a case of bilateral greater occipital neuralgia treated with cooled radiofrequency ablation. The case is considered in relation to a review of greater occipital neuralgia, continuous thermal and pulsed radiofrequency ablation, and current medical literature on cooled radiofrequency ablation. In this case, a 35-year-old female with a 2.5-year history of chronic suboccipital bilateral headaches, described as constant, burning, and pulsating pain that started at the suboccipital region and radiated into her vertex. She was diagnosed with bilateral greater occipital neuralgia. She underwent cooled radiofrequency ablation of bilateral greater occipital nerves with minimal side effects and 75% pain reduction. Cooled radiofrequency ablation of the greater occipital nerve in challenging cases is an alternative to pulsed and continuous RFA to alleviate pain with less side effects and potential for long-term efficacy. PMID:24716017

Chhatre, Akhil

2014-01-01

371

Sound localization and interaural time sensitivity with bilateral cochlear implants  

E-print Network

Bilateral cochlear implantation is becoming more common as clinicians attempt to provide better sound-source localization and speech reception in noise for cochlear implant (CI) users. While some improvement over the ...

Poon, Becky Bikkei

2006-01-01

372

1112 Consecutive Bilateral Neck Explorations for Primary Hyperparathyroidism  

Microsoft Academic Search

Background  Bilateral neck exploration has been the standard approach for patients with primary hyperparathyroidism. Improved localization\\u000a studies and the availability of intraoperative parathyroid hormone monitoring have challenged the necessity of four-gland\\u000a exploration. In this series we report a single surgeon’s experience with bilateral neck exploration for primary hyperparathyroidism\\u000a in an effort to establish benchmark outcomes from which to evaluate minimally invasive

John Allendorf; Mary DiGorgi; Kathryn Spanknebel; William Inabnet; John Chabot; Paul LoGerfo

2007-01-01

373

Bilateral thecoma presenting as premenopausal hirsutism: Laproscopic removal  

PubMed Central

Hyperandrogenism is a common disorder among women in the reproductive age group. One of the rare causes for androgen excess is sex cord- stromal tumors of the ovary. These are usually unilateral. Here we report case of a 48 year old woman who presented with hyperandrogenism due to bilateral ovarian thecoma. Androgen levels normalized following resection of the tumor. This, to the best of our knowledge, is the first case of bilateral thecoma presenting as hirsutism in a premenopausal woman. PMID:24910832

Ramkumar, S.; Jyotsna, V. P.; Mallick, S.; Kachhawa, Garima; Kandasamy, D.; Kriplani, A.; Ammini, A. C.

2013-01-01

374

Bilateral keratocystic odontogenic tumor: A report of two cases  

PubMed Central

The designation “keratocyst” was used to describe any jaw cyst in which keratin was formed to a large extent. A rare incidence of bilateral mandibular cysts (odontogenic keratocysts) was related to third molar teeth. Herein, we report two cases of bilateral keratocystic odontogenic tumor in a 22-year-old male and 15-year-old female, which was diagnosed by a series of investigations and treated appropriately. PMID:25298727

Srivatsan, K. S.; Kumar, Vikas; Mahendra, Ashish; Singh, Preeti

2014-01-01

375

Bilateral eyelid agenesis repair in a captive Texas cougar.  

PubMed

Bilateral eyelid agenesis was presented with multiple ocular anomalies in a captive Texas cougar (Felis concolor). Corneal exposure resulted in substantial keratoconjunctivitis and blepharospasm. Bilateral inferopapillary fundic colobomas, persistent pupillary membranes, and an atypical iris coloboma OD were present. Surgical repair with a rotational pedicle flap resulted in functionally effective eyelids. Trichiasis was later treated with cryotherapy. Eyelid agenesis is reported infrequently in domestic cats and among large felids has only been reported in the snow leopard. PMID:12236863

Cutler, Tim J

2002-09-01

376

Bilateral thoracoscopic thymectomy using a novel positioning system.  

PubMed

Several techniques of bilateral video-assisted thoracoscopic extended thymectomy have been proposed, and each has its own proponents. We summarize our experience in 20 patients who underwent bilateral video-assisted thoracoscopic extended thymectomy, using a new patient positioning that amplifies the thoracoscopic view of the cardiophrenic regions which are often difficult to visualize with standard techniques. In all cases, en-bloc thymectomy with complete dissection of the mediastinal fatty tissue was achieved without sternal retractors or additional incisions. PMID:24887902

Caronia, Francesco; Fiorelli, Alfonso; Monte, Attilio Lo

2014-11-01

377

Bilateral necrotizing fasciitis of the breast following quadrantectomy  

Microsoft Academic Search

Necrotizing fasciitis (NF) is a rare and highly lethal soft-tissue infection that involves the skin, subcutaneous tissue,\\u000a and fascia. Although it can affect any part of the body, the breast is seldom involved. We describe a case of bilateral NF\\u000a of the breast following elective quadrantectomy, successfully treated with antibiotics, bilateral mastectomy, and a vacuum-assisted\\u000a wound closure system.

Fernando A. Angarita; Sergio A. Acuna; Lilian Torregrosa; Mauricio Tawil; Elio F. Sánchez; Oscar Heilbron; Luis Carlos Domínguez

378

[Bilateral periventricular nodular heterotopia in a couple mother-infant].  

PubMed

Bilateral periventricular nodular heterotopia in a couple mother-infant. Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration, recently recognized X-linked. We report a case of BPNH associated with mega-cisterna magna diagnosed by ultrasound imaging at 27 weeks' gestation and confirmed by MR at 11 days of life. Similar findings in the mother's MR underlines the recurrency of this malformation in the same family. PMID:16922057

Stival, G; Braga, M; Di Marco, A; Riva, E

2005-01-01

379

Recurrent Bilateral Breast Abscess Due to Nontuberculous Mycobacterial Infection  

PubMed Central

Since recurrent bilateral breast infection due to nontuberculous mycobacterium (NTM) is rare, its diagnosis is easily overlooked; in addition, complete recovery is often difficult to achieve. We report a case of recurrent bilateral infection in a 35-year-old woman who had completed treatment for NTM. Although various infectious diseases show similar clinical conditions and imaging findings, recurrences should raise suspicion of NTM infection, and this possibility should be considered in differential diagnoses. PMID:25320630

Yoo, Hyunkyung; Choi, Sang Hyun; Kim, Sei Joong; Cho, Young Up; Choi, Suk Jin

2014-01-01

380

Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome.  

PubMed

TAR syndrome is a congenital malformation syndrome characterized by bilateral absence of the radius and thrombocytopenia. The known urinary anomalies are duplex ureter, dilatation of renal pelvis, horseshoe kidney and functional problems like vesicoureteral reflux and pyelonephritis. In this report of a case with TAR syndrome, a kidney stone and bladder telangiectasia were found coincidentally during the investigation of hematuria. TAR syndrome is discussed in the light of the medical literature. To our knowledge, no case has been reported demonstrating nephrolithiasis and bladder telangiectasia in TAR patients. PMID:19102062

Akil, Ipek; Gözmen, Salih; Yilmaz, Omer; Taneli, Can

2008-01-01

381

A case of pituitary adrenocorticotropin-dependent Cushing's syndrome in the horse.  

PubMed

In the horse, a syndrome of hirsutism, hyperglycemia, glucosuria, polydipsia, polyuria, polyphagia, and progressive debilitation has been recognized. Most often the syndrome has been associated with adenomas of the pars intermedia of the pituitary and bilateral adrenal hyperplasia or nodular hyperplasia involving primarily the zona fasciculata. Previously, the syndrome has been ascribed to compression of the hypothalamus by an expanding but functionally inactive pituitary neoplasm. In the present case, with RIA determination of plasma ACTH concentrations, the syndrome was ascribed to pituitary ACTH-dependent hyperadrenocorticism and likened to human Cushing's disease. PMID:220013

Moore, J N; Steiss, J; Nicholson, W E; Orth, D N

1979-03-01

382

Atypical findings in three patients with Pai syndrome and literature review.  

PubMed

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. PMID:22987662

Lederer, Damien; Wilson, Brian; Lefesvre, Pierre; Poorten, Vincent Vander; Kirkham, Nigel; Mitra, Dipayan; Verellen-Dumoulin, Christine; Devriendt, Koenraad

2012-11-01

383

Neuroacanthocytosis Syndromes  

PubMed Central

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. PMID:22027213

2011-01-01

384

Hemihyperplasia syndromes  

Microsoft Academic Search

Obective  Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion\\u000a regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia\\u000a syndromes.\\u000a \\u000a \\u000a \\u000a Methods  Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available\\u000a literature and diagnostic criteria.\\u000a \\u000a \\u000a \\u000a Results  Of the 17

Ashwin B. Dalal; Shubha R. Phadke; Mandakini Pradhan; Sheetal Sharda

2006-01-01

385

CLOVES syndrome.  

PubMed

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. PMID:24161472

Bloom, Jacob; Upton, Joseph

2013-12-01

386

Cushing Syndrome  

PubMed Central

A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor. PMID:6992458

Cook, David M.; Kendall, John W.; Jordan, Richard

1980-01-01

387

Functional outcomes following surgical treatment of bilateral mandibular condylar fractures.  

PubMed

Debate continues regarding unilateral or bilateral treatment for mandibular condylar fractures. This retrospective study evaluates the functional outcomes of bilateral condylar process fractures after surgical intervention. From May 1994 to December 2004, 51 adult patients with bilateral mandibular condylar process fractures were studied. There were 33 cases of bilateral condylar fractures (type I); 12 cases of condylar-subcondylar fractures (type II); and six cases of bilateral subcondylar fractures (type III). All patients underwent open reduction and internal fixation. Four patients had chin deviation, six had malocclusion, three had poor chewing function and eight had limited mouth opening. Type I patients had a significantly higher incidence of limited mouth opening (P=0.039) and associated maxillary fractures (n=12) and psychiatric disease (n=6) which yielded significantly poor functional outcomes. Complications included transient facial paresis (n=4), fracture and loosening of postoperative plates (n=3) and surgical wound infections (n=2). Open reduction with rigid fixation for bilateral condylar fractures provided satisfactory functional outcomes in this study. Concomitant maxillary fractures and underlying psychiatric problems are poor outcome factors. Aggressive rehabilitation in the first 9 months is important for early functional recovery. PMID:20961735

Chen, C-T; Feng, C-H; Tsay, P-K; Lai, J-P; Chen, Y-R

2011-01-01

388

[Autoinflammatory syndromes/fever syndromes].  

PubMed

Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

2011-05-01

389

EphA4-Mediated Ipsilateral Corticospinal Tract Misprojections Are Necessary for Bilateral Voluntary Movements But Not Bilateral Stereotypic Locomotion  

PubMed Central

In this study, we took advantage of the reported role of EphA4 in determining the contralateral spinal projection of the corticospinal tract (CST) to investigate the effects of ipsilateral misprojections on voluntary movements and stereotypic locomotion. Null EphA4 mutations produce robust ipsilateral CST misprojections, resulting in bilateral corticospinal tracts. We hypothesize that a unilateral voluntary limb movement, not a stereotypic locomotor movement, will become a bilateral movement in EphA4 knock-out mice with a bilateral CST. However, in EphA4 full knock-outs, spinal interneurons also develop bilateral misprojections. Aberrant bilateral spinal circuits could thus transform unilateral corticospinal control signals into bilateral movements. We therefore studied mice with conditional forebrain deletion of the EphA4 gene under control by Emx1, a gene expressed in the forebrain that affects the developing CST but spares brainstem motor pathways and spinal motor circuits. We examined two conditional knock-outs targeting forebrain EphA4 during performance of stereotypic locomotion and voluntary movement: adaptive locomotion over obstacles and exploratory reaching. We found that the conditional knock-outs used alternate stepping, not hopping, during overground locomotion, suggesting normal central pattern generator function and supporting our hypothesis of minimal CST involvement in the moment-to-moment control of stereotypic locomotion. In contrast, the conditional knock-outs showed bilateral voluntary movements under conditions when single limb movements are normally produced and, as a basis for this aberrant control, developed a bilateral motor map in motor cortex that is driven by the aberrant ipsilateral CST misprojections. Therefore, a specific change in CST connectivity is associated with and explains a change in voluntary movement. PMID:24719100

Serradj, Najet; Paixao, Sonia; Sobocki, Tomasz; Feinberg, Mitchell; Klein, Rudiger; Kullander, Klas

2014-01-01

390

Alagille Syndrome Associated with Xerophthalmia  

PubMed Central

Purpose To report the occurrence of xerophthalmia and keratomalacia in a patient with Alagille syndrome. Methods The patient's record and relevant literature were reviewed. Results A 3-year-old boy with Alagille syndrome was examined at our institution due to severe bilateral ocular irritation. A corneal ulcer and keratomalacia were found in the right eye and severe dryness with corneal opacification was found in the left eye. He was treated with topical fortified antibiotics in the right eye, followed by amniotic membrane transplantation. Due to his systemic condition, characterized by severe cholestasis and intestinal malabsorption, a suspicion of vitamin A deficiency was raised and was later confirmed in serum analysis. Conclusion This is the first report of xerophthalmia in a patient with Alagille syndrome. Vitamin A deficiency leading to xerophthalmia is common in developing countries; however, its occurrence in the West is rare, leading to a reduced awareness of this disorder amongst clinicians. Unusual eating habits, intestinal malabsorption and liver disease are possible causes for such a deficiency. The purpose of this case report is to raise awareness to the possibility of vitamin A deficiency in children with keratopathy, especially when associated with these disorders. PMID:24474934

Moisseiev, Elad; Cohen, Shlomi; Dotan, Gad

2013-01-01

391

Serotonin syndrome  

MedlinePLUS

... medicine). Drugs of abuse, such as ecstasy and LSD have also been associated with serotonin syndrome. ... Always tell all of your healthcare providers what medicines you take. ... especially right after starting a medicine or increasing ...

392

Caplan syndrome  

MedlinePLUS

... who have been exposed to mining dust containing coal. The lung disease is called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... small lung lumps (nodules) and mild asthma-like airway disease. ...

393

Bloom's Syndrome  

MedlinePLUS

... a high incidence of breaks in an individual’s chromosomes. The most serious manifestations of this condition are ... the symptoms of this disorder may recommend specialized chromosome testing or testing of the Bloom’s syndrome gene. ...

394

Down Syndrome  

MedlinePLUS

... the key to healthier, happier, more independent lives. Chromosomes Are the Cause To understand why Down syndrome happens, you need to understand a little about chromosomes. What are chromosomes? They're thread-like structures ...

395

Hunter syndrome  

MedlinePLUS

Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

396

Aicardi Syndrome  

MedlinePLUS

... encephalopathy that affects newborn infants. ) Is there any treatment? There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and ...

397

Apert syndrome  

MedlinePLUS

... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

398

Levator Syndrome  

MedlinePLUS

... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse Merck ... exclude other painful rectal conditions (such as thrombosed hemorrhoids, fissures, or abscesses). The physical examination is often ...

399

Ohtahara Syndrome  

MedlinePLUS

... Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first ... first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also ...

400

HELLP syndrome  

MedlinePLUS

... in 10-20% of pregnant women with severe preeclampsia or eclampsia . Most often HELLP develops before the ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

401

Williams Syndrome  

MedlinePLUS

... cognitive, personality, and neurological characteristics of WS. NIH Patient Recruitment for Williams Syndrome Clinical Trials At NIH ... on the treatment or care of an individual patient should be obtained through consultation with a physician ...

402

Marfan syndrome.  

PubMed

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

Jain, Eesha; Pandey, Ramesh Kumar

2013-01-01

403

Isaac's Syndrome  

MedlinePLUS

... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

404

Paraneoplastic Syndromes  

PubMed Central

Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

Stolinsky, David C.

1980-01-01

405

Asperger Syndrome  

MedlinePLUS

... AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group ... of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental ...

406

Sheehan syndrome  

MedlinePLUS

... occur in a woman who bleeds severely during childbirth. Sheehan syndrome is a type of hypopituitarism . ... Severe bleeding during childbirth can result in tissue death in the pituitary gland. This causes the gland to lose its ability to work ...

407

Down Syndrome  

MedlinePLUS

... help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

408

CHARGE syndrome  

Microsoft Academic Search

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies\\/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and

Kim D Blake; Chitra Prasad

2006-01-01

409

[Kabuki syndrome].  

PubMed

Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

Stankovics, J

1995-08-20

410

Metabolic Syndrome  

Microsoft Academic Search

“Metabolic syndrome” refers to the phenomenon of risk factor clustering and is presumed to reflect a unifying underlying pathophysiology.\\u000a Clustering commonly occurs in the setting of obesity, insulin resistance and a sedentary lifestyle. Currently there are five\\u000a different criteria for metabolic syndrome, all of which are associated with increased risk of diabetes or cardiovascular disease.\\u000a Therapeutic lifestyle change that focuses

James B. Meigs

411

Jacobsen syndrome  

Microsoft Academic Search

Jacobsen syndrome is a MCA\\/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1\\/100,000 births, with a female\\/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities,

Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld

2009-01-01

412

Right Calf Claudication Revealing Leriche Syndrome Presenting as Right Sciatic Neuropathy  

PubMed Central

The syndrome of aortoiliac occlusive disease, also known as Leriche syndrome, is characterized by claudication, pain, and diminished femoral pulse. We highlight an unusual case of right sciatic neuropathy caused by Leriche syndrome, which was initially misdiagnosed. A 52-year-old male, with a past medical history of hypertension and bony fusion of the thoracolumbar spine, visited our hospital complaining of right leg pain and claudication, and was initially diagnosed with spinal stenosis. The following electrophysiologic findings showed right sciatic neuropathy; but his symptom was not relieved, despite medications for neuropathy. A computed tomography angiography of the lower extremities revealed the occlusion of the infrarenal abdominal aorta, and bilateral common iliac and right external iliac arteries. All these findings suggested omitted sciatic neuropathy associated with Leriche syndrome, and the patient underwent a bilateral axillo-femoral and femoro-femoral bypass graft. PMID:24639938

Yoon, Do Hyun; Cho, Hyungpil; Seol, Seung Jun

2014-01-01

413

Central Pain Syndrome  

MedlinePLUS

NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

414

Down Syndrome (For Parents)  

MedlinePLUS

About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

415

Angelman Syndrome Foundation  

MedlinePLUS

... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment 50% of individuals with Angelman syndrome are originally ... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment Angelman Syndrome Foundation, Inc. (800-432-6435) 75 ...

416

Orofacial granulomatosis presenting as bilateral eyelid swelling  

PubMed Central

Orofacial granulomatosis (OFG) is an uncommon but increasingly recognized disease of unknown etiology. The typical presentation is chronic swelling of the perioral soft tissue, but eyelid edema can be the sole manifestation. Terminology of this disease can be confusing as it may also be referred to as granulomatous cheilitis and a monosymptomatic presentation of Melkersson–Rosenthal syndrome (MRS). Crohn’s disease and sarcoidosis should also be considered in the differential as the histopathology can be similar. Corticosteroids are the mainstay of treatment but can lack efficacy. Atypical presentations and the possibility of systemic disease involvement can further challenge the management. We describe an unusual case in which OFG manifests solely as chronic eyelid swelling. This 69-year old Asian female patient had a delayed diagnosis that responded well to intralesional corticosteroid injection with surgical skin reduction. In addition to describing this unusual presentation of OFG, we review the relevant literature and evaluate the current terminology used to describe this entity. PMID:23960989

Archibald, Curtis W.; Punja, Karim G.; Oryschak, Allan F.

2012-01-01

417

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.  

PubMed

Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

Rad, Elaheh Malakan

2014-09-01

418

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy  

PubMed Central

Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

Rad, Elaheh Malakan

2014-01-01

419

Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature.  

PubMed

Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature. PMID:24082939

Parelkar, Sandesh V; Kapadnis, Satish P; Sanghvi, Beejal V; Joshi, Prashant B; Mundada, Dinesh; Oak, Sanjay N

2013-05-01

420

Why Metabolic Syndrome Matters  

MedlinePLUS

Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

421

The neural basis of the bilateral distribution advantage.  

PubMed

Letters can be matched by their physical identity (i.e., a-a: same/A-a: different) or by their name (both a-a and A-a: same). The latter, more demanding task has in previous experiments led to an advantage of bilateral over within-hemifield matches, which was not observed in the former. We have investigated the neural basis of this bilateral distribution advantage (BDA) in letter name matching with event-related fMRI. Unilateral, compared to bilateral, name matching led to increased activation in the contralateral fusiform and lateral occipital gyri. This increase went along with an ipsilateral increase of activation in homologous areas. Such a hemispheric resource sharing was not observed for letter shape matching. This pattern of activation shows that letter name matching induces hemispheric resource sharing in visual areas, which occurs when task demands in the hemisphere of input reach a critical level. Activation in anterior cingulate complex and posterior cingulate/retrosplenial cortex showed a task x visual field interaction with lower activation for bilateral than unilateral name matches but higher activation for bilateral than unilateral shape matches, which fits the interhemispheric transfer demands in these tasks. PMID:14508634

Pollmann, Stefan; Zaidel, Eran; von Cramon, D Yves

2003-12-01

422

Simultaneous repair of bilateral inguinal hernias under local anesthesia.  

PubMed Central

OBJECTIVE: The authors confirm the advantages of simultaneous repair of bilateral inguinal hernias, indicate that it is feasible to perform the procedure under local anesthesia, and suggest that when an open tension-free technique is used, the results are superior to those of laparoscopic repair of bilateral inguinal hernias. SUMMARY BACKGROUND DATA: Between 1971 and 1995, simultaneous repair of bilateral inguinal hernias were performed in 2953 men. Initially, between 1971 and 1984, patients with indirect hernias underwent the traditional tissue approximation repair. Those with direct hernias had the same procedure, with the repair additionally buttressed by a sheet of Marlex mesh (Davol, Inc., Cronston, RI). Between 1984 and 1995, both direct and indirect hernias were repaired using the open tension-free hernioplasty procedure. METHOD: The 2953 patients underwent simultaneous repair of bilateral inguinal hernias under local anesthesia in a private practice setting in general hospitals. RESULTS: In those cases in which the "tension free" technique was used, patients experienced minimal to mild postoperative pain and had a short recovery period, with a recurrence rate of 0.1%. CONCLUSIONS: Uncomplicated bilateral inguinal hernias in adults are best treated simultaneously. It is feasible to perform the operation under local anesthesia, and when an open tension-free repair is used, postoperative pain and recovery periods are equally comparable with those of laparoscopic repair, although the complication and the recurrence rates are significantly less. Images Figure 1. Figure 2. Figure 3. PMID:8604904

Amid, P K; Shulman, A G; Lichtenstein, I L

1996-01-01

423

Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features.  

PubMed

Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling. PMID:24448126

Jeon, Jiehyun; Kim, Joo Ha; Oh, Chil Hwan

2014-01-01

424

Pfeiffer syndrome.  

PubMed

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia. PMID:16740155

Vogels, Annick; Fryns, Jean-Pierre

2006-01-01

425

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.  

PubMed

Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11. PMID:17036343

Robin, Nathaniel H; Taylor, Clare J; McDonald-McGinn, Donna M; Zackai, Elaine H; Bingham, Peter; Collins, Kevin J; Earl, Dawn; Gill, Deepak; Granata, Tiziana; Guerrini, Renzo; Katz, Naomi; Kimonis, Virginia; Lin, Jean-Pierre; Lynch, David R; Mohammed, Shehla N; Massey, Roger F; McDonald, Marie; Rogers, R Curtis; Splitt, Miranda; Stevens, Cathy A; Tischkowitz, Marc D; Stoodley, Neil; Leventer, Richard J; Pilz, Daniela T; Dobyns, William B

2006-11-15

426

Retinal arterial plaques in acquired immunodeficiency syndrome  

PubMed Central

The authors report the unusual observation discrete plaque like excrescencies along the retinal arterial wall in a young patient with acquired immunodeficiency syndrome. Though bilateral, in the right eye there was severe arteriolar narrowing and so these plaques were less identifiable. Fluorescein angiography did not reveal any arteriolar occlusion or areas of capillary occlusion in both eyes. There were no other signs of HIV associated microangiopathy and the patient did not have any concurrent cardiovascular or hematological abnormality. The cause of these plaques remains unexplained and we conjecture that they could represent macro immune-complex deposition along the arteriolar walls. PMID:24765430

Venkatesh, Pradeep; Pathak, Harish; Garg, Satpal

2012-01-01

427

Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome  

PubMed Central

Primary ciliary dyskinesia (PCD) is characterized by the congenital impairment of mucociliary clearance. When accompanied by situs inversus, chronic sinusitis and bronchiectasis, PCD is known as Kartagener syndrome. The main consequence of impaired ciliary function is a reduced mucus clearance from the lungs, and susceptibility to chronic respiratory infections due to opportunistic pathogens, including nontuberculous mycobacteria (NTM). There has been no report of NTM lung disease combined with Kartagener syndrome in Korea. Here, we report an adult patient with Kartagener syndrome complicated with Mycobacterium abscessus lung disease. A 37-year-old female presented to our hospital with chronic cough and sputum. She was ultimately diagnosed with M. abscessus lung disease and Kartagener syndrome. M. abscessus was repeatedly isolated from sputum specimens collected from the patient, despite prolonged antibiotic treatment. The patient's condition improved and negative sputum culture conversion was achieved after sequential bilateral pulmonary resection. PMID:25309609

Kim, Jung Hoon; Jun, Ji Eun; Ryu, Duck Hyun; Lee, Ji Eun; Jeong, Ho Jung; Jeong, Suk Hyeon; Kang, Hyung Koo; Kim, Jung Soo; Lee, Hyun; Chon, Hae Ri; Jeon, Kyeongman; Kim, Dohun; Kim, Jhingook; Koh, Won-Jung

2014-01-01

428

Severe Proteinuria Secondary to Amyloidosis Requiring Bilateral Renal Artery Embolization  

PubMed Central

In the case reported here, after prolonged medical therapy resistance, severe proteinuria subsided following bilateral renal artery embolization (RAE). Thereafter, respiratory distress, anasarca edema, muscle mass, and serum albumin level improved after regular hemodialysis. Although RAE is reported to be a safe and effective therapeutic procedure, it is rarely used for severe proteinuria with prolonged medical therapy resistance. The limited use of bilateral RAE for nephrological purposes may be partly related to its tendency to destroy renal function, which results in anuria and subsequent regular dialysis. However, delayed RAE could cause the patient to reach a life-threatening cachexic state and could increase the risk of morbidity and mortality due to severe proteinuria-induced hypoalbuminemia. Our case and selected previous reports reveal important information for physicians and patients while discussing prognoses and considering the pros and cons of bilateral RAE. PMID:23197960

Yeh, Chun-Tung; Tseng, Hsiuo-Shan; Liu, Wen-Sheng; Li, Szu-Yuan; Yang, Wu Chang; Ng, Yee-Yung

2012-01-01

429

A Rare Devastating Complication of Lasik: Bilateral Fungal Keratitis  

PubMed Central

Purpose. To report an unusual case of severe bilateral fungal keratitis following laser in situ keratomileusis (LASIK). Method. A 48-year-old man developed bilateral diffuse corneal infiltration two weeks after LASIK. The corneal scrapings revealed fungal filaments but cultures were negative. Results. The corneal ulceration was improved on the left eye whereas spontaneous perforation occurred and finally evisceration was needed on the right eye despite topical and systemic antifungal treatment. Conclusions. Fungal keratitis, especially with bilateral involvement, is a very rare and serious complication of LASIK surgery. Clinical suspicion is crucial because most of fungal keratitis are misdiagnosed as bacterial keratitis and can lead serious visual results, even eye loss. PMID:21113441

Taylan Sekeroglu, H.; Erdem, E.; Yar, K.; Yagmur, M.; Ersoz, T. R.; Uguz, A.

2010-01-01

430

Safety of bilateral intravitreal injections delivered in a teaching institution.  

PubMed

Intravitreal injection is one of the most common in-office procedures performed in ophthalmic practices. In teaching institutions such as the Veterans Affairs (VA) Hospitals, patient care is delivered by physicians-in-training, while mastering intravitreal injection technique. Infectious endophthalmitis and visual loss are the most feared complications of intravitreal injections, especially in the context of recent outbreaks caused by contaminated compounded medications. Ophthalmologists and ophthalmic educators increasingly face the dilemma of timing as well as balancing the risks and benefits of bilateral treatments required by many patients. In this editorial, we discuss published reports of bilateral injections, summarize our experience with bilateral intravitreal injections in a teaching setting at the Miami VA Hospital and list our recommendations for minimizing the risk of infectious endophthalmitis. PMID:24815986

Chao, Daniel L; Gregori, Ninel Z; Khandji, Joyce; Goldhardt, Raquel

2014-07-01

431

Bilateral orthokeratinized odontogenic cyst: A rare case report and review.  

PubMed

Orthokeratinized odontogenic cyst (OOC) is a developmental cyst of jaw and was initially considered by the World Health Organization (1992) as the uncommon orthokeratinized variant of odontogenic keratocyst (OKC). However, studies have shown that OOC has peculiar clinicopathologic aspects when compared with other developmental odontogenic cysts, especially OKC. So orthokeratinized odontogenic cyst now stands out to be a distinct entity. Clinically, it occurs as a single cyst, shows a predilection for males and is most often found in the second to the fifth decade. Its bilateral occurrence is extremely rare. The purpose of the article is to present a rare case of bilateral OOC arising in the mandible and review the literature on bilateral occurrence of this lesion. PMID:25328309

Pimpalkar, Rahul Devidas; Barpande, Suresh R; Bhavthankar, Jyoti D; Mandale, Mandakini S

2014-05-01

432

Bilateral orthokeratinized odontogenic cyst: A rare case report and review  

PubMed Central

Orthokeratinized odontogenic cyst (OOC) is a developmental cyst of jaw and was initially considered by the World Health Organization (1992) as the uncommon orthokeratinized variant of odontogenic keratocyst (OKC). However, studies have shown that OOC has peculiar clinicopathologic aspects when compared with other developmental odontogenic cysts, especially OKC. So orthokeratinized odontogenic cyst now stands out to be a distinct entity. Clinically, it occurs as a single cyst, shows a predilection for males and is most often found in the second to the fifth decade. Its bilateral occurrence is extremely rare. The purpose of the article is to present a rare case of bilateral OOC arising in the mandible and review the literature on bilateral occurrence of this lesion. PMID:25328309

Pimpalkar, Rahul Devidas; Barpande, Suresh R; Bhavthankar, Jyoti D; Mandale, Mandakini S

2014-01-01

433

Cowden syndrome.  

PubMed

Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with ?80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. PMID:20580873

Farooq, A; Walker, L J; Bowling, J; Audisio, R A

2010-12-01

434

Compartment syndromes  

NASA Technical Reports Server (NTRS)

The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

1989-01-01

435

Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound.  

PubMed

Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum and ophthalmological abnormalities (chorioretinal lacunae). The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination. We present a case of newborn with Aicardi syndrome, being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure. Ophthalmological examination showed bilateral chorioretinal lacunae. PMID:25071893

Pires, Claudio Rodrigues; Araujo Júnior, E; Czapkowski, Adriano; Zanforlin Filho, Sebastiăo Marques

2014-07-28

436

Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.  

PubMed

The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome. PMID:8703231

Williams, T E; Buchhalter, J R; Sussman, M D

1996-02-01

437

A case of McKusick-Kaufman Syndrome.  

PubMed

We are reporting a rare case of McKusick- Kaufman Syndrome in a ten-month old female infant from Addis Ababa with difficulty of urination often days duration. Clinical exam revealed supra-pubic mass with tenderness and had left hand postaxial polydactily. Ultrasound and CT scans showed the mass to be hydrometrocolpos posterior to the bladder. Intravenous urography revealed a lower abdomen-pelvic mass displacing and compressing the ureters with bilateral hydronephrosis. Further pelvic exam under anaesthesia revealed hydrometrocolpos with vaginal agenesis. This, to the best knowledge of the authors, is the first ever reported case of the syndrome in Ethiopia. PMID:21991762

Zewdneh, Daniel; Shewarega, Zelalem

2011-07-01

438

Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria  

Microsoft Academic Search

Gómez–López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported\\u000a and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal\\u000a dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and\\u000a bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis

Biayna Sukhudyan; Varsine Jaladyan; Gayane Melikyan; Jan Ulrich Schlump; Eugen Boltshauser; Andrea Poretti

2010-01-01

439

Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.  

PubMed

A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). MRI brain was suggestive (figure 2, A-D). CSF showed 20 degenerated leukocytes. He died of an intercurrent illness 2 months later. PMID:24711539

Saini, Arushi Gahlot; Nagaraju, S; Sahu, Jitendra Kumar; Rawat, Amit; Vyas, Sameer; Singhi, Pratibha

2014-04-01

440

A mouse model for Meckel syndrome type 3  

Microsoft Academic Search

Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene,

S. A. Cook; G. B. Collin; R. T. Bronson; J. K. Naggert; D. P. Liu; E. C. Akeson; M. T. Davisson

2009-01-01

441

Bilateral type 1 tympanoplasty in chronic otitis media.  

PubMed

A theoretical risk of iatrogenic sensorineural hearing loss during surgery has induced a reluctance to perform bilateral tympanoplasty type I among some otosurgeons. This paper presents results of bilateral surgery in 14 patients (28 ears). Fourteen patients with bilateral, dry tympanic membrane perforations caused by chronic otitis media were selected prospectively for bilateral tympanoplasty type I (28 ears) at a tertiary referral center. All patients had a HL corresponding to the size and localization of the perforation (no suspicion of ossicular chain defect or other pathology). Mean age was 37.5 years. There were seven males and seven females in our study. All but five ears were operated through an endaural or endomeatal approach, and five ears operated by postaural approach. The Underlay technique was used in all cases. Total ten cases operated using Fascia Lata and four cases operated using Temporalis fascia as graft material. Follow-up examination and hearing tests (pure tone audiometry) were performed up to 20 months after surgery. The graft take rate was 96%, with no retraction pockets or displaced grafts observed during follow-up. One patient had small residual perforation which healed at the end of 3 months. Hearing improved significantly, and the air-bone gap was significantly reduced. The air-bone gap was closed to within 10 dB in 92% and within 20 dB in 100% of the ears. Surprisingly good hearing was found during postoperative, bilateral ear canal gauze packing. Iatrogenic sensorineural HL did not occur. We conclude that bilateral myringoplasty is safe, with good results, reduces costs, and leaves the patient satisfied. The hearing impairment during postoperative ear canal packing is surprisingly modest and readily acceptable by the patients. PMID:24427585

Mane, Rajashri; Patil, Balasaheb; Mohite, Anjana; Varute, V V

2013-12-01

442

Neurocutaneous Syndromes  

Microsoft Academic Search

\\u000a Synonym. Also known as phakomatoses, a term derived from the Greek root phakos (birthmark) pointing out the common, visible dermatologic\\u000a manifestations characteristic of these syndromes.\\u000a \\u000a \\u000a Definition. The neurocutaneous syndromes consist of several heterogeneous disorders, grouped together because of their common manifestation\\u000a with neurologic, cutaneous and ocular signs. Disorders classified in this group of pathologies include neurofibromatosis (types\\u000a 1 and 2),

Gianpiero Tamburrini; Concezio Di Rocco

443

Morbihan syndrome  

PubMed Central

We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

2013-01-01

444

Penile fracture with bilateral corporeal rupture without urethral involvement  

PubMed Central

Concomitant urethral injury is rare in penile fracture. We report the case of a 34-year-old male who presented to the emergency department 12 hours after a blunt self-injury of the penis. Physical examination revealed a swollen, ecchymotic, and deviated circumcised penis without blood at the meatus. The fracture line extending along the bilateral corpora without urethral involvement was seen intraoperatively. The fracture side was repaired primarily. The patient healed and recovered without complication. To our knowledge, this is the second reported case of bilateral corporeal rupture without urethral involvement. PMID:24454602

Yonguc, Tarik; Bozkurt, Ibrahim Halil; Ors, Bumin; Kozacioglu, Zafer; Arslan, Burak; Yonguc, Nilufer Goksin

2014-01-01

445

[Bilateral visual deterioration in excessive tobacco and alcohol consumption].  

PubMed

A 33-year-old patient with a history of excessive alcohol and tobacco abuse for years presented with bilateral painless deterioration of vision in the last 3 months. Examination revealed the initial phase of bilateral optic nerve atrophy. In cases like this a purely clinical discrimination between Leber's hereditary optic neuropathy (LHON) and tobacco-alcohol neuropathy can be very challenging. In this case LHON could be confirmed by genetic analysis. Visual and neurological outcomes differ for different mutations. Therapy with idebenone, a derivate of coenzyme Q, seems to be promising at least in selected patient groups. PMID:22767349

Cyrus-Hajmassy, M

2012-09-01

446

Spontaneous bilateral rod fracture of malleable penile prosthesis  

PubMed Central

Mechanical failure with a malleable penile prosthesis is very rare. To the best of our knowledge, this is the first case reporting on a bilateral AMS 650 rod mechanical failure. We present a 50-year-old man with organic erectile dysfunction who experienced bilateral AMS 650 rod fracture after 14 years. The rod fracture of the left side was confirmed via X-ray preoperatively. The surgical exploration revealed a fracture of both rods. After the removal of both rods, we implanted a new malleable device during the same session. At the 6-month follow-up, the patient was satisfied with his prosthesis.

Bozkurt, Ibrahim Halil; Yonguc, Tarik; Arslan, Burak; Kozacioglu, Zafer; Degirmenci, Tansu; Polat, Salih; Minareci, Suleyman

2014-01-01

447

Bilateral sensorineural hearing loss and labyrinthitis ossificans secondary to neurosarcoidosis.  

PubMed

Objective To report a case of cochlear ossification as a result of neurosarcoidosis in a patient with bilateral profound sensorineural hearing loss. Study design Case report. Setting University teaching hospital, tertiary referral center. Patient Forty-year-old man with neurosarcoidosis and bilateral profound sensorineural hearing loss. Intervention Unilateral cochlear implantation. Outcome measure Aided thresholds speech perception tests. Results Marked improvement in hearing following implant. Conclusion Patients with neurosarcoidosis are at risk of labyrinthitis ossificans. Early imaging of these patients is recommended and if early cochlear ossification is identified they should be offered rapid access to rehabilitation with a cochlear implant. PMID:25189997

Dhanjal, Hardeep; Rainsbury, James; Irving, Richard M

2014-11-01

448

Hypertension associated with massive, bilateral, posture-dependent renal dysfunction.  

PubMed

Hippurate function scintiscans were obtained in prone and standing positions in a group of 76 patients with concurrent hypertension and nephroptosis. TWelve of these patients had massive, bilateral disturbance of intrarenal hippurate transport in the standing position; hippurate transport was normal in the prone position. This pattern was present in only three of 120 normotensive patients with nephroptosis. To investigate the importance of nephroptosis, 87 other hypertensive patients were examined. Eighteen of these patients demonstrated posture-dependent tubular dysfunction, but only four had nephroptosis. The results suggest a direct relationship between bilateral posture-dependent tubular dysfunction and hypertension. PMID:7244230

Clorius, J H; Schmidlin, P; Raptou, E; Huber, W; Georgi, P

1981-07-01

449

Medullary sponge kidneys and unilateral Wilms tumour in a child with Beckwith-Wiedemann syndrome  

Microsoft Academic Search

The occurrence of a Wilms tumour in a 4-year-old girl with bilateral medullary sponge kidney, Beckwith-Wiedemann syndrome and congenital hemihypertrophy demonstrates the close relationship between these disorders. Another six cases from the literature with congenital hemihypertrophy and with medullary sponge kidney are discussed, two of them also developed intra-abdominal neoplasm.

R. Beetz; O. Schofer; H. Riedmiller; R. Schumacher; P. Gutjahr

1991-01-01

450

Progressive diffuse leukoencephalopathy in patients with acquired immune deficiency syndrome (AIDS)  

Microsoft Academic Search

Two adult patients with acquired immune deficiency syndrome (AIDS) presented with psychoorganic symptoms produced by an extensive cerebral and cerebellar leukoencephalopathy. Diffuse loss of myelin and axons with reactive astrocytosis and distinctive multinucleated giant cells were prominent in the deep white matter, but less so in the subcortical white matter and in compact myelinated pathways. Bilateral involvement of the centrum

P. Kleihues; W. Lang; P. C. Burger; H. Budka; M. Vogt; R. Maurer; R. Liithy; W. Siegenthaler

1985-01-01

451

Dermatomal and mixed nerve somatosensory evoked potentials in the diagnosis of neurogenic thoracic outlet syndrome  

Microsoft Academic Search

To evaluate the diagnostic utility of dermatomal and mixed nerve somatosensory evoked potentials (SEPs) in patients with thoracic outlet syndrome (TOS) and to compare their value with routine electrodiagnostic methods, we studied a group of 44 patients with neurogenic TOS and 30 healthy controls. In addition to bilateral median and ulnar SEPs, evoked potentials were recorded after stimulation of C6

Raif Cakmur; Fethi Idiman; Elif Akalin; Ahmet Genç; Görsev G Yener; Vesile Öztürk

1998-01-01

452

Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case  

Microsoft Academic Search

We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early

Hamit Alper Tanriverdi; Hans Joachim Hendrik; Kubilay Ertan; Werner Schmidt

2002-01-01

453

DIFFICULT AIRWAY MANAGEMENT IN A PATIENT WITH TREACHER-COLLIN'S SYNDROME WITH INTUBATING LARYNGEAL MASK AIRWAY  

Microsoft Academic Search

Treacher Collin's syndrome (TCS) is a rare inherited condition characterized by bilateral and symmetric abnormalities of structures within the first and second bronchial arches. Patients with TCS present a serious problem to anesthetists maintaining their airway as upper airway obstruction and difficult tracheal intubation due to severe facial deformity. Because of retrognathia, airway management of these patients is often challenging.

M. Gharebaghian

454

Reinnervation of Bilateral Posterior Cricoarytenoid Muscles Using the Left Phrenic Nerve in Patients with Bilateral Vocal Fold Paralysis  

PubMed Central

Objective To evaluate the feasibility, effectiveness, and safety of reinnervation of the bilateral posterior cricoarytenoid (PCA) muscles using the left phrenic nerve in patients with bilateral vocal fold paralysis. Methods Forty-four patients with bilateral vocal fold paralysis who underwent reinnervation of the bilateral PCA muscles using the left phrenic nerve were enrolled in this study. Videostroboscopy, perceptual evaluation, acoustic analysis, maximum phonation time, pulmonary function testing, and laryngeal electromyography were performed preoperatively and postoperatively. Patients were followed-up for at least 1 year after surgery. Results Videostroboscopy showed that within 1 year after reinnervation, abductive movement could be observed in the left vocal folds of 87% of patients and the right vocal folds of 72% of patients. Abductive excursion on the left side was significantly larger than that on the right side (P < 0.05); most of the vocal function parameters were improved postoperatively compared with the preoperative parameters, albeit without a significant difference (P > 0.05). No patients developed immediate dyspnea after surgery, and the pulmonary function parameters recovered to normal reference value levels within 1 year. Postoperative laryngeal electromyography confirmed successful reinnervation of the bilateral PCA muscles. Eighty-seven percent of patients in this series were decannulated and did not show obvious dyspnea after physical activity. Those who were decannulated after subsequent arytenoidectomy were not included in calculating the success rate of decannulation. Conclusions Reinnervation of the bilateral PCA muscles using the left phrenic nerve can restore inspiratory vocal fold abduction to a physiologically satisfactory extent while preserving phonatory function at the preoperative level without evident morbidity. PMID:24098581

Zheng, Hongliang; Chen, Donghui; Zhu, Minhui; Wang, Wei; Liu, Fei; Zhang, Caiyun

2013-01-01

455

[SAPHO syndrome].  

PubMed

The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

2014-10-01

456

Turcot Syndrome  

MedlinePLUS

... of colorectal cancer , and an increased risk of brain cancer . The type of brain cancer generally depends on whether the Turcot syndrome is ... or FAP , with the addition of screening for brain cancer . See those conditions’ sections for a summary of ...

457

Patellofemoral syndrome  

Microsoft Academic Search

This paper examines the condition of anterior knee pain known as patellofemoral pain syndrome. It describes the functional anatomy and biomechanics of the knee including normal movement, and factors which may destabilize the knee, and predispose it to injury. The controversial “Q” angle is discussed, as is its relationship to patellofemoral pain. The importance of balanced musculature to the integrity

S. T. Green

2005-01-01

458

Bloom syndrome.  

PubMed

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044

Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

2014-07-01

459

Sensory syndromes.  

PubMed

Somatosensory deficit syndromes represent a common impairment following stroke and have a prevalence rate of around 80% in stroke survivors. These deficits restrict the ability of survivors to explore and manipulate their environment and are generally associated with a negative impact on quality of life and personal safety. Sensory impairments affect different sensory modalities in diverse locations at varying degrees, ranging from complete hemianesthesia of multiple modalities to dissociated impairment of somatosensory submodalities within a particular region of the body. Sensory impairments induce typical syndromal patterns which can be differentiated by means of a careful neurological examination, allowing the investigator to deduce location and size of the underlying stroke. In particular, a stroke located in the brainstem, thalamus, and the corticoparietal cortex result in well-differentiable sensory syndromes. Sensory function following stroke can be regained during rehabilitation even without specific sensory training. However, there is emerging evidence that specialized sensory interventions can result in improvement of somatosensory and motor function. Herein, we summarize the clinical presentations, examination, differential diagnoses, and therapy of sensory syndromes in stroke. PMID:22377851

Klingner, Carsten M; Witte, Otto W; Günther, Albrecht

2012-01-01

460

Aicardi syndrome  

Microsoft Academic Search

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a

Jean Aicardi

2005-01-01

461

Sequential bilateral cochlear implantation in children B. Petersa,*, R. Litovskyb  

E-print Network

implants have restored these abilities in many adult patients. This study is designed to evaluate: Bilateral; Cochlear; Implantation; Pediatric; Binaural 1. Introduction Recent studies in adults have shown children had either a Nucleus CI24M or Nucleus 24 Contour on their first side. All children received

Litovsky, Ruth

462

Bilateral femoral supracondylar stress fractures in a cross country runner.  

PubMed

Several high-risk factors lead to stress fractures. They include excessive training in athletes leading to overuse injuries, nutritional deficiencies, and endocrine disorders. While stress fractures are common, bilateral stress fractures are rarely seen. Few cases have been reported of bilateral femoral stress fractures in young athletes. This article presents a case of a 14-year-old cross country runner with a bilateral femoral supracondylar stress fracture. He presented with bilateral supracondylar stress fractures from running. The patient followed a strict vegan diet, but his parents stated that, to their knowledge, he was getting adequate protein and calcium. Treatment consisted of decreased activity to pain-free levels with acetaminophen for pain. Low-impact conditioning such as swimming and bicycling was allowed. Hamstring and quadricep stretching was suggested. Nutritional consultation was obtained to ensure appropriate nutrition on a vegan diet. At 1-month follow-up, he was pain free and allowed to proceed with a gradual return to running activities. In this case, the onset of a new workout routine was intolerable for this patient's low bone density, causing insufficiency fractures. Appropriate vegan diets were not associated with stress fracture in our literature review. He may have had an inadequate diet prior to this injury. As in this case, full recovery can be made after this rest period, and the patient may return to his or her original activity safely. In young athletes, diet and nutrition must be kept in mind. PMID:19292416

Ross, Kate; Fahey, Mark

2008-08-01

463

Bilateral pneumectomy (volume reduction) for chronic obstructive pulmonary disease  

Microsoft Academic Search

We undertook surgical bilateral lung volume reduction in 20 patients with severe chronic obstructive pulmonary disease to relieve thoracic distention and improve respiratory mechanics. The operation, done through median sternotomy, involves excision of 20% to 30% of the volume of each lung. The most affected portions are excised with the use of a linear stapling device fitted with strips of

J. D. Cooper; E. P. Trulock; A. N. Triantafillou; G. A. Patterson; M. S. Pohl; P. A. Deloney; R. S. Sundaresan; C. L. Roper

1995-01-01

464

Presentation to U.S.-Canada Bilateral Technical Working Group  

EPA Science Inventory

DHS and EPA have collaborated in the development of a draft charter for Technical Working Group (TWG) to serve as the basis of negotiations of bilateral agreements with other countries. The TWG would provide a mechanism for sharing both response and R&D expertise and experience i...

465

Idiopathic Bilaterally Diffuse Arteriovenous Fistulas Causing Severe Central Cyanosis  

Microsoft Academic Search

We present an extremely rare case of diffuse bilateral pulmonary arteriovenous fistulas (PAVF) of unknown etiology. The patient presented at 15 years of age with increasing cyanosis and chest pain. He had central cyanosis and clubbing, Transcutaneous oxygen saturation was 50%. Transthoracic echocardiography showed no evidence of an intracardiac defect; however, an intravenous bolus of agitated saline demonstrated immediate return

D. Alehan; O. F. Dogan; T. Karagoz

2007-01-01

466

Friction compensation in energy-based bilateral telemanipulation  

Microsoft Academic Search

In bilateral telemanipulation algorithms based on time-domain passivity, internal friction in the devices poses an additional energy drain. Based on a model of the friction, the dissipated energy can be estimated and reclaimed inside the energy balance of the control algorithm. As long as the estimate is conservative, passivity of the entire system is maintained. In this paper we consider

Michel Franken; Sarthak Misra; Stefano Stramigioli

2010-01-01

467

Bilateral acrometastasis in a case renal cell carcinoma.  

PubMed

We present a unique case of bilateral skeletal metastasis below the knee in a patient with renal cell carcinoma. In this rarest of rare cases, bony metastases were the first presentation of a primary tumour. Incidentally, the primary tumour (renal cell carcinoma) involved the solitary kidney of the patient and the same patient also had coexisting carcinoma of the prostate. PMID:25368128

Vaishya, Raju; Vijay, Vipul; Vaish, Abhishek

2014-01-01

468

Bilateral Effects of Unilateral Cochlear Implantation in Congenitally Deaf Cats  

E-print Network

Bilateral Effects of Unilateral Cochlear Implantation in Congenitally Deaf Cats Jahn N. O'Neil,1 deafness results in synaptic abnormalities in auditory nerve endings. These abnormalities are most at this synaptic junction. We sought to determine whether electrical stimulation of the congenitally deaf auditory

Ryugo, David K.

469

Acute kidney injury due to bilateral ureteral obstruction in children.  

PubMed

Bilateral ureteral obstruction in children is a rare condition arising from several medical or surgical pictures. It needs to be promptly suspected in order to attempt a quick renal function recovery. In this paper we concentrated on uncommon causes of obstruction, with the aim of giving a summary of such multiple, rare and heterogeneous conditions joint together by the common denominator of sudden bilateral ureteral obstruction, difficult to be suspected at times. Conversely, typical and well-known diseases have been just run over. We considered pediatric cases of ureteral obstruction presenting as bilateral, along with some cases which truly appeared as single-sided, because of their potential bilateral presentation. We performed a review of the literature by a search on PubMed, CrossRef Metadata Search, internet and reference lists of single articles updated to May 2014, with no time limits in the past. Given that we deal with rare conditions, we decided to include also papers in non-English languages, published with an English abstract. For the sake of clearness, we divided our research results into 8 categories: (1) urolithiasis; (2) congenital urinary tract malformations; (3) immuno-rheumatologic causes of ureteral obstruction; (4) ureteral localization of infections; (5) other systemic infective causes of ureteral obstructions; (6) neoplastic intrinsic ureteral obstructions; (7) extrinsic ureteral obstructions; and (8) iatrogenic trigonal obstruction or inflammation. Of course, different pathogenic mechanisms underlay those clinical pictures, partly well-known and partly not completely understood. PMID:25374811

Bianchi, Daniele; Vespasiani, Giuseppe; Bove, Pierluigi

2014-11-01

470

Bilateral otorrhagia associated with continuous positive airway pressure.  

PubMed

A patient had bilateral tympanic membrane rupture and otorrhagia, an unusual complication of continuous positive airway pressure (CPAP). CPAP, applied