Comparison of hydrocephalus appearance at spinaldysraphia.

PubMed

Elshani, Besnik; Lenjani, Basri

2013-01-01

Congenital malformation of spinal dysraphism followed by hydrocephalus are phenomenon reveals during intrauterine child growth. Prime objective of this work was to present Comparison of hydrocephalus appearance at spinal dysraphism respectively at its meningocele and myelomeningocele forms in Neurosurgery Clinic in UCC in Prishtina. It is perfected with retrospective and prospective method precisely of its epidemiologic part summarizing notices from patients' histories which in 2000-2006 are hospitalized in Neurosurgery Clinic from (QFLPK)--Pediatric Clinic and Children Box (Department)--Gynecology Clinic and from Sanitary Regional Center throughout Kosova. Our study objects were two groups, as the first group 90 patients with spinal dysraphism where neurosurgery operations were done and classified types of dysraphism. At myelomeningocele hydrocephalus has dominated and in a percent of appearance and as acute of its active form was 97% of hydrocephalus form where subjected to cerebrospinal liquid derivation with ventriculo -peritoneal shunt in comparison with meningocele we do not have involvation of spinal nerve element, hydrocephalus takes active form with intervention indication in 60% of cases. Reflection in shown deficit aspect is totally different at myelomeningoceles where lower paraplegia dominate more than paraparesis. The second patient operative technique developed by hydrocephalus with neurosurgical intervention indication has to do with placing of (VP) ventriculo- peritoneal system (shant) at myelomeningoceles with hydrocephalus 58 cases and 12 cases meningoceles with hydrocephalus. Post operative meningitis (shant meningitis): from 70 operated cases of hydrocephalus with spinal dysraphism shunts complications from all types are just cases. Finally that appearance of hydrocephalus compared at spinal dysraphism dominate at myellomeningoceles as in notice time aspect, it is persisting and further acute, with vital motivation for neurosurgical

[Lower urinary tract dysfunction in normal pressure hydrocephalus: Review of the literature].

PubMed

Bey, E; Nicot, B; Casez, O; Le Normand, L

2016-12-01

Lower urinary tract dysfunction in normal pressure hydrocephalus has received little attention from the scientific community. The aim of this review article was to discuss diagnostic and therapeutic options for these patients. A literature review of MedLine publications on urinary incontinence in normal pressure hydrocephalus was conducted. The following keywords were used: "hydrocephalus, normal pressure" and "bladder dysfunction" or "urinary incontinence" or "overactive bladder" or "urinary bladder, neurogenic". Prospective and retrospective studies as well as previous reviews were analyzed. Urinary symptoms in normal pressure hydrocephalus are mainly represented by overactive bladder, which is a significant burden for the concerned patients. Isolated overactive bladder is more frequent (64%) than urinary incontinence (57%). Detrusor overactivity is seen in 95.2% of the cases. Neuro-surgery is efficient on urinary symptoms for 61.5% of the patients. Bladder recovery after surgery relates with increased mid-cingulate perfusion, probably linked with a functional restoration of the mid-cingulate that normally inhibits the micturition reflex. Medical options, added or not to surgery, include anticholinergic drugs unable to pass through the blood-brain barrier, Transcutaneous Electrical Nerve Stimulation and sacral neuromodulation. There is actually an insufficient concern about urinary symptoms in normal pressure hydrocephalus. This article highlights the importance of a harmonization of neuro-urological practices in the pre-therapeutic evaluation of patients suffering from normal pressure hydrocephalus. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

PubMed

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1992-11-01

Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p < 0.001). The weight of the placenta was lower than in the controls (p < 0.05). The pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

Cerebrospinal fluid hypersecretion in pediatric hydrocephalus.

PubMed

Karimy, Jason K; Duran, Daniel; Hu, Jamie K; Gavankar, Charuta; Gaillard, Jonathan R; Bayri, Yasar; Rice, Hunter; DiLuna, Michael L; Gerzanich, Volodymyr; Marc Simard, J; Kahle, Kristopher T

2016-11-01

Hydrocephalus, despite its heterogeneous causes, is ultimately a disease of disordered CSF homeostasis that results in pathological expansion of the cerebral ventricles. Our current understanding of the pathophysiology of hydrocephalus is inadequate but evolving. Over this past century, the majority of hydrocephalus cases has been explained by functional or anatomical obstructions to bulk CSF flow. More recently, hydrodynamic models of hydrocephalus have emphasized the role of abnormal intracranial pulsations in disease pathogenesis. Here, the authors review the molecular mechanisms of CSF secretion by the choroid plexus epithelium, the most efficient and actively secreting epithelium in the human body, and provide experimental and clinical evidence for the role of increased CSF production in hydrocephalus. Although the choroid plexus epithelium might have only an indirect influence on the pathogenesis of many types of pediatric hydrocephalus, the ability to modify CSF secretion with drugs newer than acetazolamide or furosemide would be an invaluable component of future therapies to alleviate permanent shunt dependence. Investigation into the human genetics of developmental hydrocephalus and choroid plexus hyperplasia, and the molecular physiology of the ion channels and transporters responsible for CSF secretion, might yield novel targets that could be exploited for pharmacotherapeutic intervention.

Cerebrospinal fluid dynamics study in communicating hydrocephalus.

PubMed

Ramesh, Vengalathur Ganesan; Narasimhan, Vidhya; Balasubramanian, Chandramouli

2017-01-01

Communicating hydrocephalus often poses a challenge in diagnosis and management decisions. The objective of this study is to measure the opening pressure (P o ), pressure volume index (PVI), and cerebrospinal fluid outflow resistance (R out ), in patients with communicating hydrocephalus using bolus lumbar injection method and to evaluate its diagnostic and prognostic value. The study was conducted in 50 patients with communicating hydrocephalus, including normal pressure hydrocephalus (NPH) (19), post-meningitic hydrocephalus (23) and post-traumatic hydrocephalus (8). An improvised bolus lumbar injection method [the Madras Institute of Neurology (MIN) method] was used. In the NPH Group, the CSF dynamics studies correlated well with the clinico-radiological classification. The prediction of shunt responsiveness by CSF dynamics studies correlated with good outcome in 87.5%. In the post-meningitic hydrocephalus group, the value of CSF dynamics studies in predicting patients needing shunt was 89.5%. The CSF dynamics studies detected patients who needed shunt earlier than clinical or radiological indications. In the post-traumatic hydrocephalus group, 62.5% of patients improved with the treatment based on CSF dynamics studies. The improvised bolus lumbar injection method (MIN method) is a very simple test with fairly reliable and reproducible results. Study of CSF dynamics is a valuable tool in communicating hydrocephalus for confirmation of diagnosis and predicting shunt responsiveness. This is the first time that the value of CSF dynamics has been studied in patients with post-meningitic hydrocephalus. It was also useful for early selection of cases for shunting and for identifying patients with atrophic ventriculomegaly, thereby avoiding unnecessary shunt.

Hydrocephalus

MedlinePlus

... support and help with the care of a child with hydrocephalus who has serious brain damage. ... such as meningitis or encephalitis Intellectual impairment Nerve damage (decrease in movement, sensation, function) Physical disabilities

Cerebrospinal fluid dynamics study in communicating hydrocephalus

PubMed Central

Ramesh, Vengalathur Ganesan; Narasimhan, Vidhya; Balasubramanian, Chandramouli

2017-01-01

Context: Communicating hydrocephalus often poses a challenge in diagnosis and management decisions. Aims: The objective of this study is to measure the opening pressure (Po), pressure volume index (PVI), and cerebrospinal fluid outflow resistance (Rout), in patients with communicating hydrocephalus using bolus lumbar injection method and to evaluate its diagnostic and prognostic value. Materials and Methods: The study was conducted in 50 patients with communicating hydrocephalus, including normal pressure hydrocephalus (NPH) (19), post-meningitic hydrocephalus (23) and post-traumatic hydrocephalus (8). An improvised bolus lumbar injection method [the Madras Institute of Neurology (MIN) method] was used. Results: In the NPH Group, the CSF dynamics studies correlated well with the clinico-radiological classification. The prediction of shunt responsiveness by CSF dynamics studies correlated with good outcome in 87.5%. In the post-meningitic hydrocephalus group, the value of CSF dynamics studies in predicting patients needing shunt was 89.5%. The CSF dynamics studies detected patients who needed shunt earlier than clinical or radiological indications. In the post-traumatic hydrocephalus group, 62.5% of patients improved with the treatment based on CSF dynamics studies. Conclusions: The improvised bolus lumbar injection method (MIN method) is a very simple test with fairly reliable and reproducible results. Study of CSF dynamics is a valuable tool in communicating hydrocephalus for confirmation of diagnosis and predicting shunt responsiveness. This is the first time that the value of CSF dynamics has been studied in patients with post-meningitic hydrocephalus. It was also useful for early selection of cases for shunting and for identifying patients with atrophic ventriculomegaly, thereby avoiding unnecessary shunt. PMID:28484522

Radiologically occult medulloblastoma with hydrocephalus: case report.

PubMed

Honma, Hirokuni; Ogiwara, Hideki

2017-09-01

There have been no reports of occult medulloblastoma nor noncommunicating hydrocephalus due to radiologically occult brain tumors. Herein, we report radiologically occult medulloblastoma with noncommunicating hydrocephalus. A 3-year-old boy presented with macrocephaly, visual field constriction, and papilledema. Neuroimagings showed enlargement of the ventricles without any mass lesions. The CT cisternography did not show influx of the contrast into the ventricles, which suggested local cerebrospinal fluid (CSF) circulatory disturbance at the outlet of the fourth ventricle. Due to possible obstructive nature of hydrocephalus, endoscopic third ventriculostomy (ETV) was performed. Three months after the ETV, he presented with repeated vomiting. Neuroimagings showed a 3-cm fourth ventricular mass with progressive hydrocephalus. Surgical resection was performed, which revealed the pathology was medulloblastoma. We report the case of radiologically occult medulloblastoma which was demonstrated radiologically in the follow-up period of ETV for noncommunicating hydrocephalus of uncertain etiology. This is the first description of a radiologically occult medulloblastoma and also the first description of an occult brain tumor with noncommunicating hydrocephalus. The occult brain tumor may be included in the etiology of hydrocephalus.

Hydrocephalus

MedlinePlus

... buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. ...

Shortfalls in pediatric hydrocephalus clinical outcome analysis.

PubMed

Walid, Mohammad Sami; Robinson, Joe Sam

2012-06-01

In this paper, we used search engine technology to study outcome analysis and cost awareness of child hydrocephalus in the literature. The aggregate hospital charges of hydrocephalus treatment procedures for patients <18 years old was extracted from the Nationwide Inpatient Sample (NIS) data. Hydrocephalus literature was probed through the PubMed biomedical search engine. Aggregate hospital charges associated with ventriculo-peritoneal shunting as the principle procedure for patients <18 years old have increased 1.7-fold over a 13-year period to 235.6 million in 2009. Hospital discharges, however, decreased from 3,390 in 1997 to 2,525 in 2009 (25.5% decrease over 13 years). The number of papers in English language indexed by PubMed in relation to child hydrocephalus in humans increased from 81 papers in 1996 to 133 in 2010 (1.6-fold increase), totaling 1,694 over 15 years. Randomized controlled trials published in relation to child hydrocephalus totaled 16 over the same period (0.94% of child hydrocephalus papers). Papers related to child hydrocephalus with "costs and cost analysis" as medical subject heading totaled 13 papers (0.77%). Over the past 15 years, disappointingly the number of printed child hydrocephalus papers appeared to have only plateaued. Strikingly, only a very small number of these papers were directed toward randomized control studies, the sine qua non of high-grade clinical evidence. Moreover, very few papers make reference to cost analysis or economics in the treatment of hydrocephalus - an issue coming increasingly before the nation at this point.

Mathematics skills in good readers with hydrocephalus.

PubMed

Barnes, Marcia A; Pengelly, Sarah; Dennis, Maureen; Wilkinson, Margaret; Rogers, Tracey; Faulkner, Heather

2002-01-01

Children with hydrocephalus have poor math skills. We investigated the nature of their arithmetic computation errors by comparing written subtraction errors in good readers with hydrocephalus, typically developing good readers of the same age, and younger children matched for math level to the children with hydrocephalus. Children with hydrocephalus made more procedural errors (although not more fact retrieval or visual-spatial errors) than age-matched controls; they made the same number of procedural errors as younger, math-level matched children. We also investigated a broad range of math abilities, and found that children with hydrocephalus performed more poorly than age-matched controls on tests of geometry and applied math skills such as estimation and problem solving. Computation deficits in children with hydrocephalus reflect delayed development of procedural knowledge. Problems in specific math domains such as geometry and applied math, were associated with deficits in constituent cognitive skills such as visual spatial competence, memory, and general knowledge.

Genetics Home Reference: X-linked thrombocytopenia

MedlinePlus

... Facebook Twitter Home Health Conditions X-linked thrombocytopenia X-linked thrombocytopenia Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description X-linked thrombocytopenia is a bleeding disorder that primarily ...

Posthemispherectomy hydrocephalus: results of a comprehensive, multiinstitutional review.

PubMed

Lew, Sean M; Matthews, Anne E; Hartman, Adam L; Haranhalli, Neil

2013-02-01

Hemispherectomy surgery for medically intractable epilepsy is known to cause hydrocephalus in a subset of patients. Existing data regarding the incidence of, and risk factors for, developing posthemispherectomy hydrocephalus have been limited by the relatively small number of cases performed by any single center. Our goal was to better understand this phenomenon and to identify risk factors that may predispose patients to developing hydrocephalus after hemispherectomy surgery. Fifteen pediatric epilepsy centers participated in this study. A retrospective chart review was performed on all available patients who had hemispherectomy surgery. Data collected included surgical techniques, etiology of seizures, prior brain surgery, symptoms and signs of hydrocephalus, timing of shunt placement, and basic demographics. Data were collected from 736 patients who underwent hemispherectomy surgery between 1986 and 2011. Forty-six patients had preexisting shunted hydrocephalus and were excluded from analysis, yielding 690 patients for this study. One hundred sixty-two patients (23%) required hydrocephalus treatment. The timing of hydrocephalus ranged from the immediate postoperative period to 8.5 years after surgery, with 43 patients (27%) receiving shunts >90 days after surgery. Multivariate regression analysis revealed anatomic hemispherectomies (odds ratio [OR] 4.1, p < 0.0001) and previous brain surgery (OR 1.7, p = 0.04) as independent significant risk factors for developing hydrocephalus. There was a trend toward significance for the use of hemostatic agents (OR 2.2, p = 0.07) and the involvement of basal ganglia or thalamus in the resection (OR 2.2, p = 0.08) as risk factors. Hydrocephalus is a common sequela of hemispherectomy surgery. Surgical technique and prior brain surgery influence the occurrence of posthemispherectomy hydrocephalus. A significant portion of patients develop hydrocephalus on a delayed basis, indicating the need for long-term surveillance. Wiley

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium "Opportunities for Hydrocephalus Research: Pathways to Better Outcomes".

PubMed

McAllister, James P; Williams, Michael A; Walker, Marion L; Kestle, John R W; Relkin, Norman R; Anderson, Amy M; Gross, Paul H; Browd, Samuel R

2015-12-01

Building on previous National Institutes of Health-sponsored symposia on hydrocephalus research, "Opportunities for Hydrocephalus Research: Pathways to Better Outcomes" was held in Seattle, Washington, July 9-11, 2012. Plenary sessions were organized into four major themes, each with two subtopics: Causes of Hydrocephalus (Genetics and Pathophysiological Modifications); Diagnosis of Hydrocephalus (Biomarkers and Neuroimaging); Treatment of Hydrocephalus (Bioengineering Advances and Surgical Treatments); and Outcome in Hydrocephalus (Neuropsychological and Neurological). International experts gave plenary talks, and extensive group discussions were held for each of the major themes. The conference emphasized patient-centered care and translational research, with the main objective to arrive at a consensus on priorities in hydrocephalus that have the potential to impact patient care in the next 5 years. The current state of hydrocephalus research and treatment was presented, and the following priorities for research were recommended for each theme. 1) Causes of Hydrocephalus-CSF absorption, production, and related drug therapies; pathogenesis of human hydrocephalus; improved animal and in vitro models of hydrocephalus; developmental and macromolecular transport mechanisms; biomechanical changes in hydrocephalus; and age-dependent mechanisms in the development of hydrocephalus. 2) Diagnosis of Hydrocephalus-implementation of a standardized set of protocols and a shared repository of technical information; prospective studies of multimodal techniques including MRI and CSF biomarkers to test potential pharmacological treatments; and quantitative and cost-effective CSF assessment techniques. 3) Treatment of Hydrocephalus-improved bioengineering efforts to reduce proximal catheter and overall shunt failure; external or implantable diagnostics and support for the biological infrastructure research that informs these efforts; and evidence-based surgical standardization with

Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus.

PubMed

Morais, Barbara Albuquerque; Cardeal, Daniel Dante; Ribeiro E Ribeiro, Renan; Frassetto, Fernando Pereira; Andrade, Fernanda Goncalves; Matushita, Hamilton; Teixeira, Manoel Jacobsen

2017-08-01

Intramedullary hemangioblastomas are rare benign vascular tumors, infrequent in pediatric patients. Clinical symptoms vary according to the age of presentation, tumor size, location, and concomitant syringomyelia. This is the second reported case of hemangioblastoma presenting with acute hydrocephalus. A 3-month-old infant with acute hydrocephalus was asymptomatic after a ventriculoperitoneal shunt was placed. She returned 3 months later with irritability, acute paraplegia, and respiratory distress. Magnetic resonance imaging (MRI) showed an intramedullary T8-T9 tumor with syringomyelia. She underwent surgical resection with good results during the 6-month follow-up. Intramedullary tumors may present as hydrocephalus and other nonspecific symptoms, with invariably delayed diagnosis in children, but must be considered in suspicious cases.

Infantile hydrocephalus: a review of epidemiology, classification and causes

PubMed Central

Tully, Hannah M; Dobyns, William B

2015-01-01

Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

Mechanisms of Hydrocephalus after Neonatal and Adult Intraventricular Hemorrhage

PubMed Central

Strahle, Jennifer; Garton, Hugh J.L.; Maher, Cormac O.; Muraszko, Karin M.; Keep, Richard F.; Xi, Guohua

2013-01-01

Intraventricular hemorrhage (IVH) is a cause of significant morbidity and mortality and is an independent predictor of a worse outcome in intracerebral hemorrhage (ICH) and germinal matrix hemorrhage (GMH). IVH may result in both injuries to the brain as well as hydrocephalus. This paper reviews evidence on the mechanisms and potential treatments for IVH-induced hydrocephalus. One frequently cited theory to explain hydrocephalus after IVH involves obliteration of the arachnoid villi by microthrombi with subsequent inflammation and fibrosis causing CSF outflow obstruction. Although there is some evidence to support this theory, there may be other mechanisms involved, which contribute to the development of hydrocephalus. It is also unclear whether the causes of acute and chronic hydrocephalus after hemorrhage occur via different mechanisms; mechanical obstruction by blood in the former, and inflammation and fibrosis in the latter. Management of IVH and strategies for prevention of brain injury and hydrocephalus are areas requiring further study. A better understanding of the pathogenesis of hydrocephalus after IVH, may lead to improved strategies to prevent and treat post-hemorrhagic hydrocephalus. PMID:23976902

Subdural fluid collection and hydrocephalus following cervical schwannoma resection: hydrocephalus resolution after spinal pseudomeningocele repair: case report.

PubMed

Benedetto, Nicola; Cagnazzo, Federico; Gambacciani, Carlo; Perrini, Paolo

2016-12-01

The authors report the case of a 31-year-old man who developed neck pain and headache 2 months after the uncomplicated resection of a cervical schwannoma. MR imaging revealed infratentorial subdural fluid collections and obstructive hydrocephalus associated with cervical pseudomeningocele. The clinical symptoms, subdural fluid collections, and ventricular dilation resolved after surgical correction of the pseudomeningocele. This report emphasizes that hydrocephalus may be related to disorders of cerebrospinal fluid flow dynamics induced by cervical pseudomeningocele. In these rare cases, both the hydrocephalus and the symptoms are resolved by the simple correction of the pseudomeningocele.

Genetics Home Reference: X-linked dilated cardiomyopathy

MedlinePlus

... Twitter Home Health Conditions X-linked dilated cardiomyopathy X-linked dilated cardiomyopathy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description X-linked dilated cardiomyopathy is a form of heart ...

Genetics Home Reference: X-linked myotubular myopathy

MedlinePlus

... Twitter Home Health Conditions X-linked myotubular myopathy X-linked myotubular myopathy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description X-linked myotubular myopathy is a condition that primarily ...

Genetics Home Reference: X-linked sideroblastic anemia

MedlinePlus

... Twitter Home Health Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that ...

Unrecognised ventriculitis/meningitis presenting as hydrocephalus in infancy.

PubMed

Udani, Vrajesh; Udani, Soonu; Merani, Rohan; Bavdekar, Manisha

2003-09-01

Infantile hydrocephalus due to unrecognized neonatal-onset meningitis/ventriculitis, was studied retrospectively using 1991-1998 chart review. Seventy two patients with hydrocephalus were reviewed. Thirteen infants had hydrocephalus associated with active meningitis/ventriculitis which had remained unrecognized. Active meningitis/ventriculitis was confirmed by the finding of an abnormal lumbar and ventricular CSF with or without positive culture. All had perinatal risk factors and 10/13 had been given antibiotics in the postnatal period. 6/13 infants appeared to be well. The most common presentation was increasing head size. All lumbar and ventricular CSFs were abnormal and 10/13 had positive cultures as well. Imaging revealed hydrocephalus in all. The infants were treated with antibiotics for a mean of 32.8 days before VP shunting. 7/11 were severely disabled. Unrecognized active meningitis/ventriculitis is an important cause of infantile hydrocephalus.

Mapping the x-linked lymphoproliferative syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Skare, J.C.; Milunsky, A.; Byron, K.S.

1987-04-01

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predictmore » which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.« less

[Hydrocephalus in childhood : causes and imaging patterns].

PubMed

Pomschar, A; Koerte, I; Peraud, A; Heinen, F; Herber-Jonat, S; Reiser, M; Ertl-Wagner, B

2012-09-01

Causes and imaging patterns of hydrocephalus differ depending on the age of the patient. Traditionally, hydrocephalus was classified into non-communicating and communicating hydrocephalus but more recent classifications also take the site of occlusion and the etiology into account. For the diagnostic work-up computed tomography (CT), sonography and magnetic resonance imaging (MRI) are available and MRI is the method of choice for children and adolescents as it allows determination of the cause and location of a possible obstruction. In the first 12-18 months sonography allows evaluation of the lateral ventricles and the third ventricle and CT is usually only chosen in children in emergency situations and/or if no other modality is available. We retrospectively evaluated a population of 785 children and adolescents (426 males aged 0-17 years) referred for MRI between April 2009 and March 2012 due to headaches, somnolence, concentration difficulties or developmental delay. Among these 80 (49 male) met the MRI criteria for hydrocephalus, 75 (46 male) had non-communicating hydrocephalus and 5 (3 male) communicating hydrocephalus. Of the patients 24 (15 male) had posthemorrhagic aqueductal stenosis, 16 (8 male) intracranial tumors, 9 (6 male) Chiari II malformations, 5 (4 male) other congenital malformations including malformations of the Dandy Walker spectrum, 9 (3 male) idiopathic aqueductal stenosis, 7 (5 male) arachnoidal cysts and 10 (8 male) other disorders, such as post-infections, macrocephaly cutis marmorata telangiectatica congenita (M-CMTC) syndrome, mesencephalic arteriovenous malformation (AVM), Langerhans cell histiocystosis. It is important to take the age of the patient and the imaging pattern into account and to exclude tumors when reporting MR images of children with hydrocephalus.

Diagnosis and Differential Diagnosis of Hydrocephalus in Adults.

PubMed

Langner, Sönke; Fleck, Steffen; Baldauf, Jörg; Mensel, Birger; Kühn, Jens Peter; Kirsch, Michael

2017-08-01

Purpose  Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. Methods  This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion  Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. Key points   · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. Citation Format · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739. © Georg Thieme Verlag KG Stuttgart · New York.

236 children with developmental hydrocephalus: causes and clinical consequences

PubMed Central

Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

2016-01-01

Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed MRIs and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to one of five subtypes and compared on the basis of clinical characteristics, developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth. 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. 53% of surgically-treated patients experienced at least one shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. PMID:26184484

Post-hemispherectomy hydrocephalus: results of a comprehensive, multi-institutional review

PubMed Central

Lew, Sean M.; Matthews, Anne E.; Hartman, Adam L.; Haranhalli, Neil

2012-01-01

SUMMARY Purpose Hemispherectomy surgery for medically intractable epilepsy is known to cause hydrocephalus in a subset of patients. Existing data regarding the incidence of, and risk factors for developing, post-hemispherectomy hydrocephalus has been limited by the relatively small number of cases performed by any single center. Our goal was to better understand this phenomenon and to identify risk factors that may predispose patients to developing hydrocephalus after hemispherectomy surgery. Methods Fifteen pediatric epilepsy centers participated in this study. A retrospective chart review was performed on all available patients who had hemispherectomy surgery. Data collected included surgical techniques, etiology of seizures, prior brain surgery, symptoms and signs of hydrocephalus, timing of shunt placement and basic demographics. Key findings Data were collected from 736 patients who underwent hemispherectomy surgery between 1986 and 2011. Forty-six patients had pre-existing shunted hydrocephalus and were excluded from analysis, yielding 690 patients for this study. One hundred sixty-two patients (23%) required hydrocephalus treatment. The timing of hydrocephalus ranged from the immediate post-operative period to 8.5 years after surgery, with 43 patients (27%) receiving shunts more than 90 days after surgery. Multivariate regression analysis revealed anatomic hemispherectomies (OR 4.1, p<0.0001) and previous brain surgery (O.R. 1.7, p=0.04) as independently significant risk factors for developing hydrocephalus. There was a trend towards significance for the use of hemostatic agents (O.R. 2.2, p=0.07) and the involvement of basal ganglia or thalamus in the resection (O.R. 2.2, p=0.08) as risk factors. Significance Hydrocephalus is a common sequela of hemispherectomy surgery. Surgical technique and prior brain surgery influence the occurrence of post-hemispherectomy hydrocephalus. A significant portion of patients develop hydrocephalus on a delayed basis

Normal pressure hydrocephalus

MedlinePlus

Ferri FF. Normal pressure hydrocephalus. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia, PA: Elsevier; 2016:chap 648. Rosenberg GA. Brain edema and disorders of cerebrospinal fluid circulation. ...

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

PubMed

Naves, Luciana A; Daly, Adrian F; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Júnior, Armindo Jreige; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S; Stratakis, Constantine A; Lupski, James R; Beckers, Albert

2016-02-01

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

PubMed Central

Naves, Luciana A.; Daly, Adrian F.; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Jreige, Armindo; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S.; Stratakis, Constantine A.; Lupski, James R.

2017-01-01

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome. PMID:26607152

Factors Associated with Acute and Chronic Hydrocephalus in Nonaneurysmal Subarachnoid Hemorrhage.

PubMed

Kang, Peter; Raya, Amanda; Zipfel, Gregory J; Dhar, Rajat

2016-02-01

Hydrocephalus requiring external ventricular drain (EVD) or shunt placement commonly complicates aneurysmal subarachnoid hemorrhage (SAH), but its frequency is not as well known for nonaneurysmal SAH (NA-SAH). Those with diffuse bleeding may have greater risk of hydrocephalus compared to those with a perimesencephalic pattern. We evaluated the frequency of hydrocephalus in NA-SAH and whether imaging factors could predict the need for EVD and shunting. We collected admission clinical and imaging variables for 105 NA-SAH patients, including bicaudate index (BI), Hijdra sum score (HSS), intraventricular hemorrhage (IVH) score, modified Fisher scale (mFS), and bleeding pattern. Hydrocephalus was categorized as acute (need for EVD) or chronic (shunt). We applied logistic regression to determine whether hydrocephalus risk was independently related to bleeding pattern or mediated through blood volume or ventriculomegaly. Acute hydrocephalus was seen in 26 (25%) patients but was more common with diffuse (15/28, 54%) versus perimesencephalic (10/59, 17%, p < 0.001) bleeding. Patients developing acute hydrocephalus had worse clinical grade and higher BI, HSS, and IVH scores. Adjusting the relationship between hydrocephalus and diffuse bleeding for HSS (but not BI) nullified this association. Nine (35%) patients requiring EVD eventually required shunting for chronic hydrocephalus, which was associated with greater blood burden but not poor clinical grade. Acute hydrocephalus occurs in one-quarter of NA-SAH patients. The greater risk in diffuse bleeding appears to be mediated by greater cisternal blood volume but not by greater ventriculomegaly. Imaging characteristics may aid in anticipatory management of hydrocephalus in NA-SAH.

Hydrocephalus caused by unilateral foramen of Monro obstruction: A review on terminology

PubMed Central

Nigri, Flavio; Gobbi, Gabriel Neffa; da Costa Ferreira Pinto, Pedro Henrique; Simões, Elington Lannes; Caparelli-Daquer, Egas Moniz

2016-01-01

Background: Hydrocephalus caused by unilateral foramen of Monro (FM) obstruction has been referred to in literature by many different terminologies. Precise terminology describing hydrocephalus confined to just one lateral ventricle has a very important prognostic value and determines whether or not the patient can be shunt free after an endoscopic procedure. Methods: Aiming to define the best term for unilateral FM obstruction, 19 terms were employed on PubMed database (http://www.ncbi.nlm.nih.gov/pubmed) as quoted phrases. Results: A total of 194 articles were found. Four patterns of hydrocephalus were discriminated as a result of our research term query and were divided by types for didactic purpose. Type A - partial dilation of the lateral ventricle; Type B - pure unilateral obstruction of the FM; Type C - previously shunted patients with secondary obstruction of the FM; and Type D - asymmetric lateral ventricles with patent FM. Conclusion: In unilateral FM obstruction hydrocephalus, an in-depth review on terminology application is critical to avoid mistakes that may compromise comparisons among different series. This terminology review suggests that Type B hydrocephalus, i.e., the hydrocephalus confined to just one lateral ventricle with no other sites of cerebrospinal fluid circulation blockage, are best described by the terms unilateral hydrocephalus (UH) and monoventricular hydrocephalus, the first being by far the most popular. Type A hydrocephalus is best represented in the literature by the terms uniloculated hydrocephalus and loculated ventricle; Type C hydrocephalus by the terms isolated lateral ventricle and isolated UH; and Type D hydrocephalus by the term asymmetric hydrocephalus. PMID:27274402

Genetics Home Reference: X-linked severe combined immunodeficiency

MedlinePlus

... Facebook Twitter Home Health Conditions X-linked SCID X-linked severe combined immunodeficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked severe combined immunodeficiency (SCID) is an inherited ...

Genetics Home Reference: X-linked adrenal hypoplasia congenita

MedlinePlus

... Home Health Conditions X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked adrenal hypoplasia congenita is a disorder that ...

Genetics Home Reference: X-linked chondrodysplasia punctata 1

MedlinePlus

... Home Health Conditions X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 1 Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked chondrodysplasia punctata 1 is a disorder of ...

New concept of the pathogenesis and therapeutic orientation of acquired communicating hydrocephalus.

PubMed

Xu, Hao

2016-09-01

Hydrocephalus is a common medical condition characterized by abnormalities in the secretion, circulation and absorption of cerebrospinal fluid (CSF), resulting in ventricle dilatation. For the communicating hydrocephalus, without etiological treatment, its pathogenesis has been considered as a research emphasis. Many factors can damage the CSF system and trigger communicating hydrocephalus, including tumor surgery and hydrocephalus neurological diseases, such as brain trauma, infection, ICH and SAH. But according to our clinical experience, a big proportion of patients do not develop hydrocephalus. That is because the absorbing ability of CSF can compensate within a certain range. If the damage exceeds that range, hydrocephalus will occur. Once it occurs, it is not likely to be reversed, so a shunt surgery is always needed. Therefore, we believe that our orientation could transform the treatment of patient who has already showed hydrocephalus symptoms to the prevention of the occurrence in the patient with high risk of hydrocephalus. Based on the hypothesis above, we first divide the process of hydrocephalus into three stages and we believe that hydrocephalus are possible be reversed or halted in stage 1 and 2. The new concept of the pathogenesis in hydrocephalus will enrich our understanding and provide new insights to the therapeutic orientation. In conclusion, the future research direction should be the prevention of hydrocephalus, which should take a long period from the immediate occurrence of brain injury to several months or even years after the injury.

Epidemiology of adult-onset hydrocephalus: institutional experience with 2001 patients.

PubMed

Bir, Shyamal C; Patra, Devi Prasad; Maiti, Tanmoy K; Sun, Hai; Guthikonda, Bharat; Notarianni, Christina; Nanda, Anil

2016-09-01

OBJECTIVE Adult-onset hydrocephalus is not commonly discussed in the literature, especially regarding its demographic distribution. In contrast to pediatric hydrocephalus, which is related to a primary CSF pathway defect, its development in adults is often secondary to other pathologies. In this study, the authors investigated the epidemiology of adult-onset hydrocephalus as it pertains to different etiologies and in reference to age, sex, and race distributions. METHODS The authors retrospectively reviewed the clinical notes of 2001 patients with adult-onset hydrocephalus who presented to Louisiana State University Health Sciences Center within a 25-year span. Significant differences between the groups were analyzed by a chi-square test; p < 0.05 was considered significant. RESULTS The overall mean (± SEM) incidence of adult hydrocephalus in this population was 77 ± 30 per year, with a significant increase in incidence in the past decade (55 ± 3 [1990-2003] vs 102 ± 6 [2004-2015]; p < 0.0001). Hydrocephalus in a majority of the patients had a vascular etiology (45.5%) or was a result of a tumor (30.2%). The incidence of hydrocephalus in different age groups varied according to various pathologies. The incidence was significantly higher in males with normal-pressure hydrocephalus (p = 0.03) or head injury (p = 0.01) and higher in females with pseudotumor cerebri (p < 0.0001). In addition, the overall incidence of hydrocephalus was significantly higher in Caucasian patients (p = 0.0002) than in those of any other race. CONCLUSIONS Knowledge of the demographic variations in adult-onset hydrocephalus is helpful in achieving better risk stratification and better managing the disease in patients. For general applicability, these results should be validated in a large-scale meta-analysis based on a national population database.

Hydrocephalus and Shunts

MedlinePlus

... someone with Spina Bilda and shunted hydrocephalus. When making decisions, here is some helpful advice to families and health care providers: • Pay attention to a parent’s (and particularly mom’s) gut feeling ...

National Hydrocephalus Foundation

MedlinePlus

... Types of Seizures About the Foundation Mission, History & Philosophy of NHF Treatment of Hydrocephalus What is a Shunt? Treatment Third Ventriculostomy Shunt Malfunction Prognosis and Research Medical Dictionary Resources Success Stories Blessing in Disguise ...

Hydrocephalus in herpes simplex type 2 meningitis.

PubMed

Yap, Elaine; Ellis-Pegler, Rod

2006-08-01

A 34-year-old woman presented to hospital with symptoms of meningitis, later confirmed to be due to herpes simplex virus type 2. She developed hydrocephalus on day 2 of her admission. We describe the first case of hydrocephalus associated with herpes simplex type 2 meningitis in an adult.

Hydrocephalus after decompressive craniectomy for malignant hemispheric cerebral infarction.

PubMed

Wang, Qiang-Ping; Ma, Jun-Peng; Zhou, Zhang-Ming; Yang, Min; You, Chao

2016-08-01

Several studies have investigated the incidence and risk factors of hydrocephalus after decompressive craniectomy (DC) for malignant hemispheric cerebral infarction. However, the results are controversial. Therefore, the following is a retrospective cohort study to determine the incidence and risk factors of hydrocephalus after DC for malignant hemispheric cerebral infarction. From January 2004 to June 2014, patients at two medical centres in south-west China, who underwent DC for malignant hemispheric cerebral infarction, were included. The patients' clinical and radiologic findings were retrospectively reviewed. A chi-square test, Mann-Whitney U-test and logistic regression model were used to identify the risk factors. A total of 128 patients were included in the study. The incidence of ventriculomegaly and shunt-dependent hydrocephalus were 42.2% (54/128) and 14.8% (19/128), respectively. Lower preoperative Glasgow Coma Scale (GCS) score and presence of subarachnoid haemorrhage (SAH) were factors significantly associated with the development of post-operative hydrocephalus after DC. Cerebral infarction patients receiving DC have a moderate tendency to suffer from post-operative hydrocephalus. A poor GCS score and the presence of SAH were significantly associated with the development of hydrocephalus after DC.

Decompressive craniectomy and hydrocephalus: proposal of a therapeutic flow chart.

PubMed

Peraio, Simone; Calcagni, Maria Lucia; Mattoli, Maria Vittoria; Marziali, Giammaria; DE Bonis, Pasquale; Pompucci, Angelo; Anile, Carmelo; Mangiola, Annunziato

2017-12-01

Decompressive craniectomy (DC) may be necessary to save the lives of patients suffering from intracranial hypertension. However, this procedure is not complication-free. Its two main complications are hydrocephalus and the sinking skin-flap syndrome (SSFS). The radiological findings and the clinical evaluation may be not enough to decide when and/or how to treat hydrocephalus in a decompressed patient. SSFS and hydrocephalus may be not unrelated. In fact, a patient affected by hydrocephalus, after the ventriculo-peritoneal shunt, can develop SSFS; on the other hand, SSFS per se can cause hydrocephalus. Treating hydrocephalus in decompressed patients can be challenging. Radiological findings and clinical evaluation may not be enough to define the most appropriate therapeutic strategy. Cerebrospinal fluid (CSF) dynamics and metabolic evaluations can represent important diagnostic tools for assessing the need of a CSF shunt in patients with a poor baseline neurologic status. Based on our experience, we propose a flow chart for treating decompressed patients affected by ventriculomegaly.

Ruptured Massa Intermedia Secondary to Hydrocephalus.

PubMed

El Damaty, Ahmed; Langner, Soenke; Schroeder, Henry W S

2017-01-01

We report a case of ruptured massa intermedia (MI) as a sequela of hydrocephalus. A single case report is presented describing the sequelae of tumor bed hematoma after a posterior fossa hemangioblastoma resection in which the patient bled 3 days after surgery, resulting in secondary hydrocephalus and subsequently dilatation of the third ventricle, which resulted in rupture of the MI. The patient was managed on emergency basis with an external ventricular drain then endoscopically with a third ventriculostomy and clot extraction. Absent MI is not uncommon in hydrocephalic patients, and it is assumed to be the result of rupture from acute dilatation of the third ventricle. Our case report proves this assumption and documents the presence and absence of the MI before and after developing hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.

PubMed

Hurni, Yannick; Poretti, Andrea; Schneider, Jacques; Guzman, Raphael; Ramelli, Gian Paolo

2018-06-22

 Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them.  We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013. Data on clinical and radiological follow-up were collected until June 2017.  Five children diagnosed with arrested hydrocephalus were included in the study. All patients presented macrocephaly as the main presenting sign. Associated mild-to-moderate stable motor disorders were assessed in four out of five cases. Typical symptoms and signs associated with acute raised intracranial pressure were absent in all patients. Magnetic resonance imaging studies showed ventriculomegaly in all patients. A diagnosis of arrested hydrocephalus was made in all five cases based on stable clinical and radiological findings during the initial observation. Conservative management based on active surveillance was, therefore, proposed. During the follow-up period, we observed stable or improved conditions in four out of five patients, while the remaining patient presented progressive hydrocephalus.  Making a distinction between arrested and progressive hydrocephalus is fundamental, because of the opposed appropriate management. Any newly discovered case of hydrocephalus, not characterized by clear signs of progressive hydrocephalus, should benefit from active surveillance before any definitive decision is taken. Georg Thieme Verlag KG Stuttgart · New York.

Global hydrocephalus epidemiology and incidence: systematic review and meta-analysis.

PubMed

Dewan, Michael C; Rattani, Abbas; Mekary, Rania; Glancz, Laurence J; Yunusa, Ismaeel; Baticulon, Ronnie E; Fieggen, Graham; Wellons, John C; Park, Kee B; Warf, Benjamin C

2018-04-27

OBJECTIVE Hydrocephalus is one of the most common brain disorders, yet a reliable assessment of the global burden of disease is lacking. The authors sought a reliable estimate of the prevalence and annual incidence of hydrocephalus worldwide. METHODS The authors performed a systematic literature review and meta-analysis to estimate the incidence of congenital hydrocephalus by WHO region and World Bank income level using the MEDLINE/PubMed and Cochrane Database of Systematic Reviews databases. A global estimate of pediatric hydrocephalus was obtained by adding acquired forms of childhood hydrocephalus to the baseline congenital figures using neural tube defect (NTD) registry data and known proportions of posthemorrhagic and postinfectious cases. Adult forms of hydrocephalus were also examined qualitatively. RESULTS Seventy-eight articles were included from the systematic review, representative of all WHO regions and each income level. The pooled incidence of congenital hydrocephalus was highest in Africa and Latin America (145 and 316 per 100,000 births, respectively) and lowest in the United States/Canada (68 per 100,000 births) (p for interaction < 0.1). The incidence was higher in low- and middle-income countries (123 per 100,000 births; 95% CI 98-152 births) than in high-income countries (79 per 100,000 births; 95% CI 68-90 births) (p for interaction < 0.01). While likely representing an underestimate, this model predicts that each year, nearly 400,000 new cases of pediatric hydrocephalus will develop worldwide. The greatest burden of disease falls on the African, Latin American, and Southeast Asian regions, accounting for three-quarters of the total volume of new cases. The high crude birth rate, greater proportion of patients with postinfectious etiology, and higher incidence of NTDs all contribute to a case volume in low- and middle-income countries that outweighs that in high-income countries by more than 20-fold. Global estimates of adult and other forms of

Parent ratings of executive functioning in children with shunted hydrocephalus.

PubMed

Lacy, Maureen; Baldassarre, Megan; Nader, Todd; Frim, David

2012-01-01

The present study examined the executive functioning of a group of children with a history of communicating hydrocephalus and how their level of functioning was correlated with parent ratings of executive functioning. The study examined the executive functioning of 39 shunted children with a history of hydrocephalus and 20 healthy peers. Additionally, parents of both groups of children completed the Behavior Rating Inventory of Executive Function (BRIEF) to assess the parents' perceptions of their children's executive functioning. Finally, the study investigated the relationship between the shunted hydrocephalus children's executive functioning and the parent ratings of their executive functioning. Overall, the children with a history of shunted hydrocephalus displayed more executive dysfunction than their healthy peers. These children were rated by their parents as having more executive dysfunction than their healthy peers and displaying working memory, initiation, mental flexibility and self-monitoring difficulties, which appear to increase with age among the shunted hydrocephalus group. While parent ratings as measured by the BRIEF indices did not correlate with all executive tasks within the shunted hydrocephalus group, the cognitive tests assessing mental flexibility may be sensitive to the problems noted by parents at home. The children with a history of shunted hydrocephalus displayed executive functioning deficits on formal examination. The parents of children with a history of shunted hydrocephalus report ongoing executive difficulties which may increase with age. Copyright © 2012 S. Karger AG, Basel.

Technology preferences among caregivers of children with hydrocephalus.

PubMed

Naftel, Robert P; Safiano, Nicole A; Falola, Michael I; Shannon, Chevis N; Wellons, John C; Johnston, James M

2013-01-01

The Internet and social media are powerful disseminators of medical information, providing new portals for patient care. The authors of this study evaluated current technology hardware, Internet, and social media use and their socioeconomic relationships among caregivers of children with hydrocephalus. A written survey was completed in the neurosurgical clinics at the University of Alabama at Birmingham by 300 parents of children with shunted hydrocephalus between October 26, 2010, and July 26, 2011. Computer use (94.6%), Internet use (91.7%), smartphone use (56.9%), and Internet research on hydrocephalus (81.9%) were prevalent. However, for each of these four utilizations there was significantly lower access by caregivers of minority races (p = 0.04, 0.03, 0.002, and < 0.0001, respectively), lower income (p = 0.02, 0.01, < 0.0001, and < 0.0001, respectively), and lower level of education (p = 0.001, 0.002, < 0.0001, and 0.001, respectively). Personal use of social media was prevalent (95.1% of all Internet users) with use being more prevalent among less-educated than higher-educated caregivers (p = 0.017). Hydrocephalus-related social media use (59.5% of Internet users) was not associated with socioeconomic factors. For hydrocephalus education on the Internet, caregivers chose information websites such as Wikipedia or the Hydrocephalus Association as preferred platforms; these preferences were followed by use of social media websites. Facebook and YouTube were the preferred social media platforms for personal and hydrocephalus-related use. Parents indicate moderate skepticism about the trustworthiness of the Internet; only 21.7% always trust the online sources. Most parents (89.8%) say that they would visit neurosurgeon-recommended websites. Of Internet-using caregivers, 28.6% use the Internet or social media to find hydrocephalus support groups, and 34.8% have used the Internet to communicate with other caregivers who have children with similar conditions

Controversy about Management of Hydrocephalus - Shunt vs. Endoscopic Third Ventriculostomy.

PubMed

Kumar, Vikas; Bodeliwala, Shaam; Singh, Daljit

2017-08-01

The best management of hydrocephalus is still controversial in the twenty-first century. Shunt treatment for hydrocephalus is the most common procedure performed in neurosurgical practice and is associated with the highest complications rate. But during the last 2 decades, the treatment of hydrocephalus has improved with better shunt devices available today, increased facilities for investigations and newer approaches like endoscopic third ventriculostomy. The recent advances in development of better endoscopes have provided the patient and treating doctor with an option for an alternative surgery for treatment of hydrocephalus.

Increased risk of hydrocephalus in long-term dialysis patients.

PubMed

Wang, I-Kuan; Lin, Cheng-Li; Cheng, Yu-Kai; Chou, Che-Yi; Liang, Chih-Chia; Yen, Tzung-Hai; Sung, Fung-Chang

2016-05-01

The risk of hydrocephalus in end-stage renal disease (ESRD) patients on dialysis has not been studied in depth. Using Taiwan National Health Insurance claims data, we identified 29 684 incident ESRD patients from 2000 to 2010, including 10 030 peritoneal dialysis (PD) patients and 19 654 hemodialysis (HD) patients. The control cohort consisted of 118 736 people randomly selected from those without kidney disease, frequency matched with ESRD patients by age, sex and index year. We also established propensity score-matched cohorts with 10 014 PD and 10 014 HD patients. The incidence rates and hazard ratios (HRs) of hydrocephalus were calculated until the end of 2011. Incidence rates of hydrocephalus were greater in HD and PD patients than in controls (8.44 and 11.0 versus 4.11 per 10 000 person-years, respectively), with an adjusted HR of 1.86 [95% confidence interval (CI) 1.43-2.41] for all ESRD patients compared with controls. A higher proportion of hydrocephalus patients underwent surgical bypass to relieve hydrocephalus in ESRD patients than controls, 40.7% (46/113) versus 24.5% (67/273), with an adjusted odds ratio of 2.11 (95% CI 1.33-3.36). Compared with controls, the adjusted HRs of communicating hydrocephalus for HD and PD patients were 1.77 (95% CI 1.22-2.55) and 2.51 (95% CI 1.61-3.89), respectively. The propensity score-matched analysis showed an HR of 0.72 (95% CI 0.42-1.23) for hydrocephalus in HD patients compared with PD patients. Patients with ESRD are at an increased risk of hydrocephalus. The risk difference between HD and PD patients is not significant. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Vertebrobasilar Dolichoectasia Induced Hydrocephalus: the Water-Hammer Effect

PubMed Central

Zisimopoulou, Vaso; Ntouniadaki, Aikaterini; Aggelidakis, Panagiotis; Siatouni, Anna; Gatzonis, Stylianos; Tavernarakis, Antonios

2015-01-01

Vertebrobasilar dolichoectasia is a clinical entity associated rarely with obstructive hydrocephalus. We present a 48-year old male with a profound dilatation of the ventricular system due to a dolichoectatic basilar artery, as appeared in imaging studies. The patient suffered from longstanding hydrocephalus and presenile dementia. The underlying mechanism for obstructive hydrocephalus due to vertebrobasilar dolichoectasia is considered to be both a water-hammer effect and a direct compression of adjacent structures. We suggest prompt surgical intervention upon diagnosis as a first choice treatment in order to avoid further complications. PMID:26236456

Vertebrobasilar Dolichoectasia Induced Hydrocephalus: the Water-Hammer Effect.

PubMed

Zisimopoulou, Vaso; Ntouniadaki, Aikaterini; Aggelidakis, Panagiotis; Siatouni, Anna; Gatzonis, Stylianos; Tavernarakis, Antonios

2015-04-24

Vertebrobasilar dolichoectasia is a clinical entity associated rarely with obstructive hydrocephalus. We present a 48-year old male with a profound dilatation of the ventricular system due to a dolichoectatic basilar artery, as appeared in imaging studies. The patient suffered from longstanding hydrocephalus and presenile dementia. The underlying mechanism for obstructive hydrocephalus due to vertebrobasilar dolichoectasia is considered to be both a water-hammer effect and a direct compression of adjacent structures. We suggest prompt surgical intervention upon diagnosis as a first choice treatment in order to avoid further complications.

MR elastography of hydrocephalus

NASA Astrophysics Data System (ADS)

Pattison, Adam J.; Lollis, S. Scott; Perrinez, Phillip R.; Weaver, John B.; Paulsen, Keith D.

2009-02-01

Hydrocephalus occurs due to a blockage in the transmission of cerebrospinal fluid (CSF) in either the ventricles or subarachnoid space. Characteristics of this condition include increased intracranial pressure, which can result in neurologic deterioration [1]. Magnetic resonance elastography (MRE) is an imaging technique that estimates the mechanical properties of tissue in vivo. While some investigations of brain tissue have been performed using MRE [2,3,4,5], the effects due to changes in interstitial pressure and fluid content on the mechanical properties of the brain remain unknown. The purpose of this work is to assess the potential of MRE to differentiate between the reconstructed properties of normal and hydrocephalic brains. MRE data was acquired in 18 female feline subjects, 12 of which received kaolin injections resulting in an acute form of hydrocephalus. In each animal, four MRE scans were performed during the process including one pre-injection and three post-injection scans. The elastic parameters were obtained using a subzone-based reconstruction algorithm that solves Navier's equations for linearly elastic materials [6]. The remaining cats were used as controls, injected with saline instead of kaolin. To determine the state of hydrocephalus, ventricular volume was estimated from segmenting anatomical images. The mean ventricular volume of hydrocephalic cats significantly increased (P <~ 0.0001) between the first and second scans. The mean volume was not observed to increase (P >~ 0.5) for the control cats. Also, there was an observable increase in the recorded elastic shear modulus of brain tissue in the normal and hydrocephalic acquisitions. Results suggest that MRE is able to detect changes in the mechanical properties of brain tissue resulting from kaolin-induced hydrocephalus, indicating the need for further study.

Endoscopic third ventriculostomy for hydrocephalus in brainstem glioma: a case series.

PubMed

Kobayashi, Natsuki; Ogiwara, Hideki

2016-07-01

A brainstem glioma is an incurable brain tumor that can be complicated by hydrocephalus. A ventriculoperitoneal (VP) shunt is generally performed for the control of hydrocephalus. This study aimed to reveal the safety and efficacy of an endoscopic third ventriculostomy (ETV) for hydrocephalus in brainstem gliomas. Six patients who had pontine glioma with hydrocephalus underwent an ETV between May 2010 and November 2015. In all the cases, there were one or more symptoms of hydrocephalus (headache, nausea, vomiting, or lethargy). Retrospective review of these patients was performed using the medical records and neuroimagings. The ETV was performed safely and there were no intraoperative complications in all patients. The mean follow-up period was 12.3 months. An immediate symptomatic relief of hydrocephalus and an adequate control of symptoms were achieved without a VP shunt in all patients. The ETV is considered to be an effective and safe procedure for the treatment of hydrocephalus in brainstem gliomas. Determining the ventriculostomy site according to the preoperative MRI in each case is considered to be important for the safe procedure.

Comparison of CSF Distribution between Idiopathic Normal Pressure Hydrocephalus and Alzheimer Disease.

PubMed

Yamada, S; Ishikawa, M; Yamamoto, K

2016-07-01

CSF volumes in the basal cistern and Sylvian fissure are increased in both idiopathic normal pressure hydrocephalus and Alzheimer disease, though the differences in these volumes in idiopathic normal pressure hydrocephalus and Alzheimer disease have not been well-described. Using CSF segmentation and volume quantification, we compared the distribution of CSF in idiopathic normal pressure hydrocephalus and Alzheimer disease. CSF volumes were extracted from T2-weighted 3D spin-echo sequences on 3T MR imaging and quantified semi-automatically. We compared the volumes and ratios of the ventricles and subarachnoid spaces after classification in 30 patients diagnosed with idiopathic normal pressure hydrocephalus, 10 with concurrent idiopathic normal pressure hydrocephalus and Alzheimer disease, 18 with Alzheimer disease, and 26 control subjects 60 years of age or older. Brain to ventricle ratios at the anterior and posterior commissure levels and 3D volumetric convexity cistern to ventricle ratios were useful indices for the differential diagnosis of idiopathic normal pressure hydrocephalus or idiopathic normal pressure hydrocephalus with Alzheimer disease from Alzheimer disease, similar to the z-Evans index and callosal angle. The most distinctive characteristics of the CSF distribution in idiopathic normal pressure hydrocephalus were small convexity subarachnoid spaces and the large volume of the basal cistern and Sylvian fissure. The distribution of the subarachnoid spaces in the idiopathic normal pressure hydrocephalus with Alzheimer disease group was the most deformed among these 3 groups, though the mean ventricular volume of the idiopathic normal pressure hydrocephalus with Alzheimer disease group was intermediate between that of the idiopathic normal pressure hydrocephalus and Alzheimer disease groups. The z-axial expansion of the lateral ventricle and compression of the brain just above the ventricle were the common findings in the parameters for differentiating

Experimental hydrocephalus following mechanical increment of intraventricular pulse pressure.

PubMed

Di Rocco, C; Pettorossi, V E; Caldarelli, M; Mancinelli, R; Velardi, F

1977-11-15

Experimental hydrocephalus has been induced in lambs by artificial increase of the amplitude of intraventricular cerebrospinal fluid (CSF) oscillations related to arterial pulsations, without concomitant changes of the mean CSF-pressure. The characteristics of this hydrocephalus demonstrate that the intraventricular CSF-pulsations can play a role in the genesis of ventricular dilation. Such a method may be used to produce an original model of hydrocephalus independent of changes of CSF-circulation or absorption.

Outcome in pediatric hydrocephalus: a comparison between previously used outcome measures and the hydrocephalus outcome questionnaire.

PubMed

Platenkamp, Marc; Hanlo, Patrick W; Fischer, Kathelijn; Gooskens, Rob H J M

2007-07-01

The objectives of this study were to assess, in a cohort of children with recently treated hydrocephalus, the correlation between scores on the Hydrocephalus Outcome Questionnaire (HOQ) and the children's type of schooling and motor functioning, and to assess the overall outcome of the children. The health status of 142 pediatric patients (85 boys) with previous hydrocephalus, born between 1995 and 1999, was assessed. Outcomes were determined using the HOQ, type of schooling, and motor functioning. Data were obtained from parental interviews and patient medical records. RESULTS. Twelve patients died (8.5%). Responses to the HOQ were obtained from 107 patients (65 boys). The mean age of the patients was 7 years and 9 months +/- 1.42 years (range 6-10 years). The Physical Health score of the HOQ correlated well with the motor functioning score (r = 0.652) as did the Cognitive Health score with the type of schooling (r = 0.672). Fifty-nine percent of the patients were able to attend a school for students with normal intelligence. Disabling motor functioning was found in only 30% of patients. Epilepsy was present in 14%. The results show a good correlation between the type of schooling and the Cognitive HOQ score and between the Physical HOQ score and the motor functioning score. The HOQ is a simple and very useful measurement for determining outcome in pediatric hydrocephalus.

Fractionated Stereotactic Radiotherapy in the Treatment of Vestibular Schwannoma (Acoustic Neuroma): Predicting the Risk of Hydrocephalus;Vestibular schwannoma; Hydrocephalus; Fractionated; Stereotactic radiotherapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Powell, Ceri; Micallef, Caroline; Gonsalves, Adam

2011-07-15

Purpose: To determine the incidence and predictive factors for the development of hydrocephalus in patients with acoustic neuromas (AN) treated with fractionated stereotactic radiotherapy. Patients and Methods: Seventy-two patients with AN were treated with fractionated stereotactic radiotherapy between 1998 and 2007 (45-50 Gy in 25-30 fractions over 5 to 6 weeks). The pretreatment MRI scan was assessed for tumor characteristics and anatomic distortion independently of subsequent outcome and correlated with the risk of hydrocephalus. Results: At a median follow-up of 49 months (range, 1-120 months), 5-year event-free survival was 95%. Eight patients (11%) developed hydrocephalus within 19 months of radiotherapy,more » which was successfully treated. On univariate analysis, pretreatment factors predictive of hydrocephalus were maximum diameter (p = 0.005), proximity to midline (p = 0.009), displacement of the fourth ventricle (p = 0.02), partial effacement of the fourth ventricle (p < 0.001), contact with the medulla (p = 0.005), and more brainstem structures (p = 0.004). On multivariate analysis, after adjusting for fourth ventricular effacement, no other variables remained independently associated with hydrocephalus formation. Conclusions: Fractionated stereotactic radiotherapy results in excellent tumor control of AN, albeit with a risk of developing hydrocephalus. Patients at high risk, identified as those with larger tumors with partial effacement of the fourth ventricle before treatment, should be monitored more closely during follow-up. It would also be preferable to offer treatment to patients with progressive AN while the risk of hydrocephalus is low, before the development of marked distortion of fourth ventricle before tumor diameter significantly exceeds 2 cm.« less

Meaning Construction and Integration in Children with Hydrocephalus

ERIC Educational Resources Information Center

Barnes, Marcia A.; Faulkner, Heather; Wilkinson, Margaret; Dennis, Maureen

2004-01-01

Text comprehension processes were investigated in children with hydrocephalus, a neurodevelopmental disorder associated with good word decoding, but deficient reading comprehension. In Experiment 1, hydrocephalus and control groups were similar in processes related to activating word meanings and using context to enhance meaning. The hydrocephalus…

Genetics Home Reference: X-linked congenital stationary night blindness

MedlinePlus

... Health Conditions X-linked congenital stationary night blindness X-linked congenital stationary night blindness Printable PDF Open ... Javascript to view the expand/collapse boxes. Description X-linked congenital stationary night blindness is a disorder ...

Genetics Home Reference: X-linked lissencephaly with abnormal genitalia

MedlinePlus

... Health Conditions X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia Printable PDF Open ... Javascript to view the expand/collapse boxes. Description X-linked lissencephaly with abnormal genitalia (XLAG) is a ...

Genetics Home Reference: X-linked sideroblastic anemia and ataxia

MedlinePlus

... Health Conditions X-linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open ... Javascript to view the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare ...

Genetics Home Reference: X-linked intellectual disability, Siderius type

MedlinePlus

... Health Conditions X-linked intellectual disability, Siderius type X-linked intellectual disability, Siderius type Printable PDF Open ... Javascript to view the expand/collapse boxes. Description X-linked intellectual disability, Siderius type is a condition ...

Impact of operation details on hydrocephalus after decompressive craniectomy

PubMed Central

Wang, Qiang-Ping; Ma, Jun-Peng; Zhou, Zhang-Ming; You, Chao

2016-01-01

Objective: To evaluate the correlation between the distance of craniectomy from the midline and hydrocephalus after DC. Methods: The following electronic databases were searched from their inception to June 2015: Cochrane Library, MEDLINE, Science Direct, EMBASE, Scopus, Google Scholar, the Chinese Biomedical Database (CBM), and the Chinese National Knowledge Infrastructure (CNKI). All randomized clinical trials, prospective cohort, retrospective observational cohort, and case-control studies investigating the relationship between distance of craniectomy from the midline and hydrocephalus after DC were enrolled. The Cochrane Collaboration’s software RevMan 5.3 was used for meta-analysis. Results: Six retrospective cohort studies involving 462 participants were included. Pooled analysis of 4 studies suggested that craniectomy close to the midline (<25 mm) was associated with a significantly increased risk of postoperative hydrocephalus (odds ratio [OR] = 3.61, 95% confidence interval [CI]: 1.3 - 9.97, p=0.01). However, meta-analysis of 4 studies did not find statistical differences when comparing the distance of craniectomy from the midline in the hydrocephalus group and that in the non-hydrocephalus group (OR = −0.14, 95% CI: −0.44 - 0.15, p=0.34). Conclusions: Available evidence was insufficient to support the theory that craniectomy close to the midline increases the risk of developing hydrocephalus after DC. Well-conducted randomized clinical trials are required to verify this issue. PMID:26818161

Papilledema in children with hydrocephalus: incidence and associated factors.

PubMed

Lee, Haeng Jin; Phi, Ji Hoon; Kim, Seung-Ki; Wang, Kyu-Chang; Kim, Seong-Joon

2017-06-01

OBJECTIVE The aim of this study was to report the incidence of and the factors associated with papilledema in children with hydrocephalus. METHODS Patients younger than 15 years of age who had been diagnosed with hydrocephalus and treated by extra-ventricular drainage or ventriculoperitoneal shunt surgery between 2005 and 2015 were retrospectively reviewed. Factors including patient age and sex, etiology of hydrocephalus, duration of signs or symptoms, intracranial pressure (ICP), and presence of papilledema were evaluated. RESULTS Forty-six patients, whose mean age was 6.3 ± 4.7 years, were included in the study. The 19 patients without papilledema had a mean age of 2.7 ± 2.7 years, and the 27 patients with papilledema had a mean age of 8.8 ± 4.2 years (p < 0.001). The mean ICP was 19.9 ± 10.0 cm H 2 O among those without papilledema and 33.3 ± 9.1 cm H 2 O among those with papilledema (p < 0.001). The mean duration of signs or symptoms was 3.0 ± 4.6 months in the patients without papilledema and 3.4 ± 3.9 months in those with papilledema (p = 0.704). The patients with papilledema were older and presented with higher ICP than those without. The causes of hydrocephalus were tumor (59%), congenital anomaly (19%), hemorrhage (13%), and infection (9%). CONCLUSIONS Papilledema was more common in patients who were older, who had higher ICP, and whose hydrocephalus had been induced by brain tumor. However, since papilledema was absent in 41% of the children with hydrocephalus, papilledema's absence does not ensure the absence of hydrocephalus, especially in younger patients.

Genetics Home Reference: X-linked hyper IgM syndrome

MedlinePlus

... Home Health Conditions X-linked hyper IgM syndrome X-linked hyper IgM syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked hyper IgM syndrome is a condition that ...

Genetics Home Reference: X-linked dystonia-parkinsonism

MedlinePlus

... X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. Brain Pathol. 1992 Oct;2(4):287-95. Review. Citation on PubMed Kaji R, Goto S, Tamiya G, Ando S, Makino S, Lee LV. Molecular dissection and anatomical basis of dystonia: X-linked ...

Long-term hydrocephalus alters the cytoarchitecture of the adult subventricular zone

PubMed Central

Campos-Ordoñez, Tania; Herranz-Pérez, Vicente; Chaichana, Kaisorn L.; Rincon-Torroella, Jordina; Rigamonti, Daniele; García-Verdugo, Jose M.; Quiñones-Hinojosa, Alfredo; Gonzalez-Perez, Oscar

2014-01-01

Hydrocephalus can develop secondarily to a disturbance in production, flow and/or absorption of cerebrospinal fluid. Experimental models of hydrocephalus, especially subacute and chronic hydrocephalus, are few and limited, and the effects of hydrocephalus on the subventricular zone are unclear. The aim of this study was to analyze the effects of long-term obstructive hydrocephalus on the subventricular zone, which is the neurogenic niche lining the lateral ventricles. We developed a new method to induce hydrocephalus by obstructing the aqueduct of Sylvius in the mouse brain, thus simulating aqueductal stenosis in humans. In 120-day-old rodents (n = 18 per group), the degree of ventricular dilatation and cellular composition of the subventricular zone were studied by immunofluorescence and transmission electron microscopy. In adult patients (age > 18 years), the sizes of the subventricular zone, corpus callosum, and internal capsule were analyzed by magnetic resonance images obtained from patients with and without aqueductal stenosis (n=25 per group). Mice with 60-day hydrocephalus had a reduced number of Ki67+ and doublecortin+ cells on immunofluorescence, as well as decreased number of neural progenitors and neuroblasts in the subventricular zone on electron microscopy analysis as compared to non-hydrocephalic mice. Remarkably, a number of extracellular matrix structures (fractones) contacting the ventricular lumen and blood vessels were also observed around the subventricular zone in mice with hydrocephalus. In humans, the widths of the subventricular zone, corpus callosum, and internal capsule in patients with aqueductal stenosis were significantly smaller than age and gender-matched patients without aqueductal stenosis. In summary, supratentorial hydrocephalus reduces the proliferation rate of neural progenitors and modifies the cytoarchitecture and extracellular matrix compounds of the subventricular zone. In humans, this similar process reduces the

Long-term hydrocephalus alters the cytoarchitecture of the adult subventricular zone.

PubMed

Campos-Ordoñez, Tania; Herranz-Pérez, Vicente; Chaichana, Kaisorn L; Rincon-Torroella, Jordina; Rigamonti, Daniele; García-Verdugo, Jose M; Quiñones-Hinojosa, Alfredo; Gonzalez-Perez, Oscar

2014-11-01

Hydrocephalus can develop secondarily to a disturbance in production, flow and/or absorption of cerebrospinal fluid. Experimental models of hydrocephalus, especially subacute and chronic hydrocephalus, are few and limited, and the effects of hydrocephalus on the subventricular zone are unclear. The aim of this study was to analyze the effects of long-term obstructive hydrocephalus on the subventricular zone, which is the neurogenic niche lining the lateral ventricles. We developed a new method to induce hydrocephalus by obstructing the aqueduct of Sylvius in the mouse brain, thus simulating aqueductal stenosis in humans. In 120-day-old rodents (n=18 per group), the degree of ventricular dilatation and cellular composition of the subventricular zone were studied by immunofluorescence and transmission electron microscopy. In adult patients (age>18years), the sizes of the subventricular zone, corpus callosum, and internal capsule were analyzed by magnetic resonance images obtained from patients with and without aqueductal stenosis (n=25 per group). Mice with 60-day hydrocephalus had a reduced number of Ki67+ and doublecortin+cells on immunofluorescence, as well as decreased number of neural progenitors and neuroblasts in the subventricular zone on electron microscopy analysis as compared to non-hydrocephalic mice. Remarkably, a number of extracellular matrix structures (fractones) contacting the ventricular lumen and blood vessels were also observed around the subventricular zone in mice with hydrocephalus. In humans, the widths of the subventricular zone, corpus callosum, and internal capsule in patients with aqueductal stenosis were significantly smaller than age and gender-matched patients without aqueductal stenosis. In summary, supratentorial hydrocephalus reduces the proliferation rate of neural progenitors and modifies the cytoarchitecture and extracellular matrix compounds of the subventricular zone. In humans, this similar process reduces the subventricular

Predictors and outcomes of shunt-dependent hydrocephalus in patients with aneurysmal sub-arachnoid hemorrhage

PubMed Central

2012-01-01

Background Hydrocephalus following spontaneous aneurysmal sub-arachnoid hemorrhage (SAH) is often associated with unfavorable outcome. This study aimed to determine the potential risk factors and outcomes of shunt-dependent hydrocephalus in aneurysmal SAH patients but without hydrocephalus upon arrival at the hospital. Methods One hundred and sixty-eight aneurysmal SAH patients were evaluated. Using functional scores, those without hydrocephalus upon arrival at the hospital were compared to those already with hydrocephalus on admission, those who developed it during hospitalization, and those who did not develop it throughout their hospital stay. The Glasgow Coma Score, modified Fisher SAH grade, and World Federation of Neurosurgical Societies grade were determined at the emergency room. Therapeutic outcomes immediately after discharge and 18 months after were assessed using the Glasgow Outcome Score. Results Hydrocephalus accounted for 61.9% (104/168) of all episodes, including 82 with initial hydrocephalus on admission and 22 with subsequent hydrocephalus. Both the presence of intra-ventricular hemorrhage on admission and post-operative intra-cerebral hemorrhage were independently associated with shunt-dependent hydrocephalus in patients without hydrocephalus on admission. After a minimum 1.5 years of follow-up, the mean Glasgow outcome score was 3.33 ± 1.40 for patients with shunt-dependent hydrocephalus and 4.21 ± 1.19 for those without. Conclusions The presence of intra-ventricular hemorrhage, lower mean Glasgow Coma Scale score, and higher mean scores of the modified Fisher SAH and World Federation of Neurosurgical grading on admission imply risk of shunt-dependent hydrocephalus in patients without initial hydrocephalus. These patients have worse short- and long-term outcomes and longer hospitalization. PMID:22765765

Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele.

PubMed

Da Silva, Stephanie L; Jeelani, Yasser; Dang, Ha; Krieger, Mark D; McComb, J Gordon

2015-04-01

There is a known association of hydrocephalus with encephaloceles. Risk factors for hydrocephalus and neurological deficit were ascertained in a series of patients born with an encephalocele. A retrospective analysis was undertaken of patients treated for encephaloceles at Children's Hospital Los Angeles between 1994 and 2012. The following factors were evaluated for their prognostic value: age at presentation, sex, location of encephalocele, size, contents, microcephaly, presence of hydrocephalus, CSF leak, associated cranial anomalies, and neurological outcome. Seventy children were identified, including 38 girls and 32 boys. The median age at presentation was 2 months. The mean follow-up duration was 3.7 years. Encephalocele location was classified as anterior (n = 14) or posterior (n = 56) to the coronal suture. The average maximum encephalocele diameter was 4 cm (range 0.5-23 cm). Forty-seven encephaloceles contained neural tissue. Eight infants presented at birth with CSF leaking from the encephalocele, with 1 being infected. Six patients presented with hydrocephalus, while 11 developed progressive hydrocephalus postoperatively. On univariate analysis, the presence of neural tissue, cranial anomalies, encephalocele size of at least 2 cm, seizure disorder, and microcephaly were each positively associated with hydrocephalus. On multivariate logistic regression modeling, the single prognostic factor for hydrocephalus of borderline statistical significance was the presence of neural tissue (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 0.8-74.0). Fourteen patients had severe developmental delay, 28 had mild/moderate delay, and 28 were neurologically normal. On univariate analysis, the presence of cranial anomalies, larger size of encephalocele, hydrocephalus, and microcephaly were positively associated with neurological deficit. In the multivariable model, the only statistically significant prognostic factor for neurological deficit was presence of

[Disorders of higher mental functions in the early stages of hydrocephalus].

PubMed

Simernitskaia, E G; Simernitskiĭ, B P

1981-01-01

The authors have carried out neuropsychological examinations of 32 children operated for hydrocephalus on the first year of the life. A syndrome of the higher psychic function disturbances characteristics for children with early hydrocephalus is described, and the results of the neuropsychological function examinations were compared with the character, etiology, and gravity of the hydrocephalus. In the children with the early hydrocephalus a high incidence of sinistrality was revealed, the fact, that gives one grounds to explain the peculiarities of the syndrome observed in them by an anomaly of the development of the brain functional asymmetry.

Treatment of posthemorrhagic hydrocephalus in premature infants with subcutaneous reservoir drainage.

PubMed

Yu, Bo; Li, Shasha; Lin, Zhenlang; Zhang, Nu

2009-01-01

To investigate the effectiveness of subcutaneous reservoir drainage as a treatment for the different types of posthemorrhagic hydrocephalus in premature infants. 11 premature infants with posthemorrhagic hydrocephalus underwent subcutaneous reservoir embedment surgery, and cerebrospinal fluid (CSF) was drained via the reservoir intermittently for 8 weeks. During the period of drainage, ultrasound and computerized tomography were used to measure ventricle size. CSF examinations were performed routinely to assess the presence of intraventricular hemorrhage (IVH) and/or infection. (1) Five infants were diagnosed as having obstructive hydrocephalus; 2 had nearly normal ventricle sizes with treatment and drainage was stopped after 8 weeks, 2 had nearly normal ventricle sizes after 4 more weeks of drainage, and 1 underwent ventriculoperitoneal shunt (V-P shunt) surgery due to failure of ventricle size reduction. (2) Six infants were diagnosed as having communicating hydrocephalus; 4 had further enlarged ventricle size after 8 weeks and underwent V-P shunt surgery, 1 had treatment aborted at week 8 of drainage, and only 1 had moderate reduction of ventricle size after 8 weeks. (3) None of the 11 infants had progressive IVH and/or intracranial infection during drainage. Subcutaneous reservoir drainage is a suitable and safe treatment for posthemorrhagic hydrocephalus in premature infants. It is more effective for obstructive hydrocephalus than for communicating hydrocephalus. Copyright (c) 2009 S. Karger AG, Basel.

Communicating Hydrocephalus Associated with Intracranial Schwannoma Treated by Gamma Knife Radiosurgery.

PubMed

Park, Chang Kyu; Lee, Sung Ho; Choi, Man Kyu; Choi, Seok Keun; Park, Bong Jin; Lim, Young Jin

2016-05-01

Gamma knife radiosurgery (GKRS) has been established as an effective and safe treatment for intracranial schwannoma. However, serious complications can occur after GKRS, including hydrocephalus. The pathophysiology and risk factors of this disorder are not yet fully understood. The objective of the study was to assess potential risk factors for hydrocephalus after GKRS. We retrospectively reviewed the medical radiosurgical records of 244 patients who underwent GKRS to treat intracranial schwannoma. The following parameters were analyzed as potential risk factors for hydrocephalus after GKRS: age, sex, target volume, irradiation dose, prior tumor resection, treatment technique, and tumor enhancement pattern. The tumor enhancement pattern was divided into 2 groups: group A (homogeneous enhancement) and group B (heterogeneous or rim enhancement). Of the 244 patients, 14 of them (5.7%) developed communicating hydrocephalus. Communicating hydrocephalus occurred within 2 years after GKRS in most patients (92.8%). No significant association was observed between any of the parameters investigated and the development of hydrocephalus, with the exception of tumor enhancement pattern. Group B exhibited a statistically significant difference by univariate analysis (P = 0.002); this difference was also significant by multivariate analysis (P = 0.006). Because hydrocephalus is curable, patients should be closely monitored for the development of this disorder after GKRS. In particular, patients with intracranial schwannomas with irregular enhancement patterns or cysts should be meticulously observed. Copyright © 2015 Elsevier Inc. All rights reserved.

Simulation of hydrocephalus condition in infant head

NASA Astrophysics Data System (ADS)

Wijayanti, Erna; Arif, Idam

2014-03-01

Hydrocephalus is a condition of an excessive of cerebrospinal fluid in brain. In this paper, we try to simulate the behavior of hydrocephalus conditions in infant head by using a hydro-elastic model which is combined with orthotropic elastic skull and with the addition of suture that divide the skull into two lobes. The model then gives predictions for the case of stenosis aqueduct by varying the cerebral aqueduct diameter, time constant and brain elastic modulus. The hydrocephalus condition which is shown by the significant value of ventricle displacement, as the result shows, is occurred when the aqueduct is as resistant as brain parenchyma for the flow of cerebrospinal fluid. The decrement of brain elastic modulus causes brain parenchyma displacement value approach ventricle displacement value. The smaller of time constant value causes the smaller value of ventricle displacement.

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

PubMed

Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

2016-03-01

Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed magnetic resonance images (MRIs) and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to 1 of 5 subtypes and compared on the basis of clinical characteristics and developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth; in addition, 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts, and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. Overall, 53% of surgically treated patients experienced at least 1 shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. © The Author(s) 2015.

Cytokine and growth factor concentration in cerebrospinal fluid from patients with hydrocephalus following endovascular embolization of unruptured aneurysms in comparison with other types of hydrocephalus.

PubMed

Killer, Monika; Arthur, Adam; Al-Schameri, Abdul Rahman; Barr, John; Elbert, Donald; Ladurner, Gunther; Shum, Julie; Cruise, Gregory

2010-10-01

To better understand the development of hydrocephalus of different origins, we evaluated cytokine and growth factor concentration in cerebrospinal fluid from patients with hydrocephalus. CSF was collected from patients developing hydrocephalus following hemorrhage (n = 15), patients with normal pressure hydrocephalus (n = 10), and following the embolization of unruptured intracranial aneurysms (n = 9). Myelography patients (n = 15) served as controls. Quantification of 11 molecules relating angiogenesis, inflammation, and wound healing in the CSF was performed using ELISA. All three hydrocephalus groups had decreased concentration of TIMP-4 compared to the normal group. The hemorrhage group showed increased concentration of IL-6, IL-8, MCP-1, MMP-9, and TIMP-1 compared to the control group. The unruptured aneurysm group had increased concentration of IL-6 and decreased concentration of TIMP-2 compared to the control group. Compared to the normal patients, increased concentrations of wound healing molecules were evident in all three groups. Increased inflammation was evident in the hemorrhage and unruptured aneurysm groups.

Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

MedlinePlus

... thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open All ... view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder ...

Efficacy of endoscopic third ventriculostomy in non-communicating hydrocephalus.

PubMed

ul Haq, Mian Iftikhar; Khan, Shahbaz Ali; Raja, Riaz A; Ahmed, Ehtisham

2012-01-01

Hydrocephalus is common problem requiring either extra-cranial (shunts) or intracranial (ventriculostomy) diversion of cerebrospinal fluid. Endoscopic third ventriculostomy obviates all the complications of shunts and has been accepted as the procedure of choice for the treatment of obstructed hydrocephalus in adults and children because of the minimally invasive nature. This study was conducted to determine the efficacy of endoscopic third ventriculostomy in the treatment of non-communicating hydrocephalus. This cross sectional descriptive study was done in neurosurgery department of Hayatabad Medical Complex, Peshawar, from 2nd February 2011 to 1st march 2012. A total of 171 patients with non-communicating hydrocephalous, irrespective of gender discrimination and Glasgow coma scale score of 10 and above were included in this study. Patients below one year of age, with lesion in the floor of the third ventricle or near basilar artery, and hydrocephalus with infected CSF or haemorrhage were excluded. Hydrocephalous was diagnosed on CT-scan brain. All the patients were followed up till 72 hours post-operatively for the determination of effectiveness in terms of improvement in Glasgow coma scale by at least 2 points. All the above mentioned information including name, age, gender and address were recorded in a predesigned proforma. The data was analysed using SPSS-17. Frequency and percentage was calculated for categorical variables. Mean +/- SD was calculated for age. A total of 171 patients with non-communicating hydrocephalous were included in the study. Out of 171 patients, there were 104 (60.8%) males and 67 (39.2%) females. Age ranged from 1-70 years with majority of the patients was below 10 years of age. Majority of the patients had hydrocephalus due to tuberculous meningitis 39.2% of the whole. In 134 (78.4%) patients the procedure was effective. Procedure was more effective in hydrocephalus due to space occupying lesion. Endoscopic third ventriculostomy is

Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.

PubMed

Tully, Hannah M; Kukull, Walter A; Mueller, Beth A

2016-06-01

Children with hydrocephalus are at risk for epilepsy both due to their underlying condition and as a consequence of surgical treatment; however, the relative contributions of these factors remain unknown. The authors sought to characterize epilepsy among children with infancy-onset hydrocephalus and to examine the risks of epilepsy associated with hydrocephalus subtype and with factors related to surgical treatment. We conducted a longitudinal cohort study of all children with infancy-onset hydrocephalus treated at a major regional children's hospital during 2002 to 2012, with follow-up to ascertain risk factors and epilepsy outcome through April 2015. Poisson regression was used to calculate adjusted risk ratios and 95% confidence intervals for associations. Among 379 children with hydrocephalus, 86 (23%) developed epilepsy (mean onset age = 2.7 years), almost one fifth of whom had a history of infantile spasms. Relative to spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes had fourfold higher risks of developing epilepsy. Among children who underwent surgery, surgical infection doubled the risk of epilepsy (risk ratio = 2.0, 95% confidence interval = 1.4 to 3.0). Epilepsy was associated with surgical failure for intracranial reasons but not extracranial reasons (risk ratio = 1.7, 95% confidence interval = 1.1 to 2.7; risk ratio = 1.1, 95% confidence interval = 0.7 to 1.9, respectively). Epilepsy is common among children with hydrocephalus. Compared with children with spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes have a markedly increased risk of epilepsy. Surgical infection doubles the risk of epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes.

PubMed

Choi, Sungkyoung; Lee, Sungyoung; Qiao, Dandi; Hardin, Megan; Cho, Michael H; Silverman, Edwin K; Park, Taesung; Won, Sungho

2016-09-01

Although the X chromosome has many genes that are functionally related to human diseases, the complicated biological properties of the X chromosome have prevented efficient genetic association analyses, and only a few significantly associated X-linked variants have been reported for complex traits. For instance, dosage compensation of X-linked genes is often achieved via the inactivation of one allele in each X-linked variant in females; however, some X-linked variants can escape this X chromosome inactivation. Efficient genetic analyses cannot be conducted without prior knowledge about the gene expression process of X-linked variants, and misspecified information can lead to power loss. In this report, we propose new statistical methods for rare X-linked variant genetic association analysis of dichotomous phenotypes with family-based samples. The proposed methods are computationally efficient and can complete X-linked analyses within a few hours. Simulation studies demonstrate the statistical efficiency of the proposed methods, which were then applied to rare-variant association analysis of the X chromosome in chronic obstructive pulmonary disease. Some promising significant X-linked genes were identified, illustrating the practical importance of the proposed methods. © 2016 WILEY PERIODICALS, INC.

FARVATX: FAmily-based Rare Variant Association Test for X-linked genes

PubMed Central

Choi, Sungkyoung; Lee, Sungyoung; Qiao, Dandi; Hardin, Megan; Cho, Michael H.; Silverman, Edwin K; Park, Taesung; Won, Sungho

2016-01-01

Although the X chromosome has many genes that are functionally related to human diseases, the complicated biological properties of the X chromosome have prevented efficient genetic association analyses, and only a few significantly associated X-linked variants have been reported for complex traits. For instance, dosage compensation of X-linked genes is often achieved via the inactivation of one allele in each X-linked variant in females; however, some X-linked variants can escape this X chromosome inactivation. Efficient genetic analyses cannot be conducted without prior knowledge about the gene expression process of X-linked variants, and misspecified information can lead to power loss. In this report, we propose new statistical methods for rare X-linked variant genetic association analysis of dichotomous phenotypes with family-based samples. The proposed methods are computationally efficient and can complete X-linked analyses within a few hours. Simulation studies demonstrate the statistical efficiency of the proposed methods, which were then applied to rare-variant association analysis of the X chromosome in chronic obstructive pulmonary disease (COPD). Some promising significant X-linked genes were identified, illustrating the practical importance of the proposed methods. PMID:27325607

SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis

PubMed Central

Zhou, Ying; Wang, Jian; Tseng, I-Chu; Huang, Timothy; Zhao, Yingjun; Zheng, Qiuyang; Gao, Yue; Luo, Hong; Zhang, Xian; Bu, Guojun; Hong, Wanjin

2016-01-01

Hydrocephalus is a brain disorder derived from CSF accumulation due to defects in CSF clearance. Although dysfunctional apical cilia in the ependymal cell layer are causal to the onset of hydrocephalus, mechanisms underlying proper ependymal cell differentiation are largely unclear. SNX27 is a trafficking component required for normal brain function and was shown previously to suppress γ-secretase-dependent amyloid precursor protein and Notch cleavage. However, it was unclear how SNX27-dependent γ-secretase inhibition could contribute to brain development and pathophysiology. Here, we describe and characterize an Snx27-deleted mouse model for the ependymal layer defects of deciliation and hydrocephalus. SNX27 deficiency results in reductions in ependymal cells and cilia density, as well as severe postnatal hydrocephalus. Inhibition of Notch intracellular domain signaling with γ-secretase inhibitors reversed ependymal cells/cilia loss and dilation of lateral ventricles in Snx27-deficient mice, giving strong indication that Snx27 deletion triggers defects in ependymal layer formation and ciliogenesis through Notch hyperactivation. Together, these results suggest that SNX27 is essential for ependymal cell differentiation and ciliogenesis, and its deletion can promote hydrocephalus pathogenesis. SIGNIFICANCE STATEMENT Down's syndrome (DS) in humans and mouse models has been shown previously to confer a high risk for the development of pathological hydrocephalus. Because we have previously described SNX27 as a component that is consistently downregulated in DS, we present here a robust Snx27-deleted mouse model that produces hydrocephalus and associated ciliary defects with complete penetrance. In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS. Based on these findings, we anticipate that future study will determine whether modulation of a SNX27/Notch

Neuropsychological Assessment of Adult Patients with Shunted Hydrocephalus

PubMed Central

Bakar, Emel Erdogan

2010-01-01

Objective This study is planned to determine the neurocognitive difficulties of hydrocephalic adults. Methods The research group contained healthy adults (control group, n : 15), and hydrocephalic adults (n : 15). Hydrocephalic group consisted of patients with idiopathic aquaduct stenosis and post-meningitis hydrocephalus. All patients were followed with shunted hydrocephalus and not gone to shunt revision during last two years. They were chosen from either asymptomatic or had only minor symptoms without motor and sensorineural deficit. A neuropsychological test battery (Raven Standart Progressive Matrices, Bender-Gestalt Test, Cancellation Test, Clock Drawing Test, Facial Recognition Test, Line Orientation Test, Serial Digit Learning Test, Stroop Color Word Interference Test-TBAG Form, Verbal Fluency Test, Verbal Fluency Test, Visual-Aural Digit Span Test-B) was applied to all groups. Results Neuropsychological assessment of hydrocephalic patients demonstrated that they had poor performance on visual, semantic and working memory, visuoconstructive and frontal functions, reading, attention, motor coordination and executive function of parietal lobe which related with complex and perseverative behaviour. Eventually, these patients had significant impairment on the neurocognitive functions of their frontal, parietal and temporal lobes. On the other hand, the statistical analyses performed on demographic data showed that the aetiology of the hydrocephalus, age, sex and localization of the shunt (frontal or posterior parietal) did not affect the test results. Conclusion This prospective study showed that adult patients with hydrocephalus have serious neuropsychological problems which might be directly caused by the hydrocephalus; and these problems may cause serious adaptive difficulties in their social, cultural, behavioral and academic life. PMID:20379471

Early variations of laboratory parameters predicting shunt-dependent hydrocephalus after subarachnoid hemorrhage.

PubMed

Na, Min Kyun; Won, Yu Deok; Kim, Choong Hyun; Kim, Jae Min; Cheong, Jin Hwan; Ryu, Je Il; Han, Myung-Hoon

2017-01-01

Hydrocephalus is a frequent complication following subarachnoid hemorrhage. Few studies investigated the association between laboratory parameters and shunt-dependent hydrocephalus. This study aimed to investigate the variations of laboratory parameters after subarachnoid hemorrhage. We also attempted to identify predictive laboratory parameters for shunt-dependent hydrocephalus. Multiple imputation was performed to fill the missing laboratory data using Bayesian methods in SPSS. We used univariate and multivariate Cox regression analyses to calculate hazard ratios for shunt-dependent hydrocephalus based on clinical and laboratory factors. The area under the receiver operating characteristic curve was used to determine the laboratory risk values predicting shunt-dependent hydrocephalus. We included 181 participants with a mean age of 54.4 years. Higher sodium (hazard ratio, 1.53; 95% confidence interval, 1.13-2.07; p = 0.005), lower potassium, and higher glucose levels were associated with higher shunt-dependent hydrocephalus. The receiver operating characteristic curve analysis showed that the areas under the curve of sodium, potassium, and glucose were 0.649 (cutoff value, 142.75 mEq/L), 0.609 (cutoff value, 3.04 mmol/L), and 0.664 (cutoff value, 140.51 mg/dL), respectively. Despite the exploratory nature of this study, we found that higher sodium, lower potassium, and higher glucose levels were predictive values for shunt-dependent hydrocephalus from postoperative day (POD) 1 to POD 12-16 after subarachnoid hemorrhage. Strict correction of electrolyte imbalance seems necessary to reduce shunt-dependent hydrocephalus. Further large studies are warranted to confirm our findings.

Early variations of laboratory parameters predicting shunt-dependent hydrocephalus after subarachnoid hemorrhage

PubMed Central

Kim, Choong Hyun; Kim, Jae Min; Cheong, Jin Hwan; Ryu, Je il

2017-01-01

Background and purpose Hydrocephalus is a frequent complication following subarachnoid hemorrhage. Few studies investigated the association between laboratory parameters and shunt-dependent hydrocephalus. This study aimed to investigate the variations of laboratory parameters after subarachnoid hemorrhage. We also attempted to identify predictive laboratory parameters for shunt-dependent hydrocephalus. Methods Multiple imputation was performed to fill the missing laboratory data using Bayesian methods in SPSS. We used univariate and multivariate Cox regression analyses to calculate hazard ratios for shunt-dependent hydrocephalus based on clinical and laboratory factors. The area under the receiver operating characteristic curve was used to determine the laboratory risk values predicting shunt-dependent hydrocephalus. Results We included 181 participants with a mean age of 54.4 years. Higher sodium (hazard ratio, 1.53; 95% confidence interval, 1.13–2.07; p = 0.005), lower potassium, and higher glucose levels were associated with higher shunt-dependent hydrocephalus. The receiver operating characteristic curve analysis showed that the areas under the curve of sodium, potassium, and glucose were 0.649 (cutoff value, 142.75 mEq/L), 0.609 (cutoff value, 3.04 mmol/L), and 0.664 (cutoff value, 140.51 mg/dL), respectively. Conclusions Despite the exploratory nature of this study, we found that higher sodium, lower potassium, and higher glucose levels were predictive values for shunt-dependent hydrocephalus from postoperative day (POD) 1 to POD 12–16 after subarachnoid hemorrhage. Strict correction of electrolyte imbalance seems necessary to reduce shunt-dependent hydrocephalus. Further large studies are warranted to confirm our findings. PMID:29232410

X-linked congenital panhypopituitarism.

PubMed

Schimke, R N; Spaulding, J J; Hollowell, J G

1971-05-01

Two half brothers with panhypopituitary dwarfism are reported who have the same mother and different, unrelated fathers. The subject of hereditary panhypopituitarism is reviewed briefly. It is concluded that there are at least two forms of hereditary panhypopituitary dwarfism, one of which may be X-linked.

Dementia paralytica: deterioration from communicating hydrocephalus.

PubMed Central

Giménez-Roldán, S; Benito, C; Martin, M

1979-01-01

Five patients suffering from dementia paralytica who failed to improve or deteriorated after one or several high dosage courses of penicillin, had pneumoencephalographic patterns suggesting communicating hydrocephalus. Measurements of the ventricular index, ratio of cella media to width of the temporal horn, and the callosal angle differed from that in seven cases of dementia paralytica with associated cerebral atrophy. An isotope cisternogram in three cases with communicating hydrocephalus further confirmed a blockage of the cerebrospinal fluid (CSF) at the parasagittal subarachnoid space. Three patients exhibited the full syndrome of gait apraxia, incontinence, and pyramidal tract signs associated with a severe degree of dementia. Shunting of the CSF in three cases was followed by immediate improvement in two, one in a longlasting way. No active parenchymal inflammation was observed in any of three brain biopsy samples taken during surgery, except for leptomeningeal fibrosis in one. Chronic leptomeningitis in dementia paralytica may impair subarachnoid CSF absorption with subsequent communicating hydrocephalus. Progression or inadequate responses after therapeutic dose of penicillin in dementia paralytica should prompt investigation for this complication as an alternative, effective treatment could be offered. Images PMID:469557

Decorin alleviated chronic hydrocephalus via inhibiting TGF-β1/Smad/CTGF pathway after subarachnoid hemorrhage in rats.

PubMed

Yan, Hui; Chen, Yujie; Li, Lingyong; Jiang, Jiaode; Wu, Guangyong; Zuo, Yuchun; Zhang, John H; Feng, Hua; Yan, Xiaoxin; Liu, Fei

2016-01-01

Chronic hydrocephalus is one of the severe complications after subarachnoid hemorrhage (SAH). However, there is no efficient treatment for the prevention of chronic hydrocephalus, partially due to poor understanding of underlying pathogenesis, subarachnoid fibrosis. Transforming growth factor-β1(TGF-β1) is a potent fibrogenic factor implicated in wide range of fibrotic diseases. To investigate whether decorin, a natural antagonist for TGF-β1, protects against subarachnoid fibrosis and chronic hydrocephalus after SAH, two-hemorrhage-injection SAH model was conducted in 6-week-old rats. Recombinant human decorin(rhDecorin) (30ug/2ul) was administered before blood injection and on the 10th day after SAH. TGF-β1, p-Smad2/3, connective tissue growth factor (CTGF), collagen I and pro-collagen I c-terminal propeptide were assessed via western blotting, enzyme-linked immunosorbent assay, radioimmunoassay and immunofluorescence. And neurobehavioral tests and Morris water maze were employed to evaluate long-term neurological functions after SAH. We found that SAH induced heightened activation of TGF-β1/Smad/CTGF axis, presenting as a two peak response of TGF-β1 in cerebrospinal fluid, elevation of TGF-β1, p-Smad2/3, CTGF, collagen I in brain parenchyma and pro-collagen I c-terminal propeptide in cerebrospinal fluid, and increased lateral ventricle index. rhDecorin treatment effectively inhibited up-regulation of TGF-β1, p-Smad2/3, CTGF, collagen I and pro-collagen I c-terminal propeptide after SAH. Moreover, rhDecorin treatment significantly reduced lateral ventricular index and incidence of chronic hydrocephalus after SAH. Importantly, rhDecorin improved neurocognitive deficits after SAH. In conclusion, rhDecorin suppresses extracellular matrix accumulation and following subarachnoid fibrosis via inhibiting TGF-β1/Smad/CTGF pathway, preventing development of hydrocephalus and attenuating long-term neurocognitive defects after SAH. Copyright © 2015 Elsevier B

Phenotype-genotype correlations in X linked retinitis pigmentosa.

PubMed Central

Kaplan, J; Pelet, A; Martin, C; Delrieu, O; Aymé, S; Bonneau, D; Briard, M L; Hanauer, A; Larget-Piet, L; Lefrançois, P

1992-01-01

Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical profiles in X linked RP as a function of age and mode of onset. The first clinical form has very early onset with severe myopia. The second form starts later with night blindness with mild myopia or none. At least two genes have been identified in X linked forms, namely RP2 (linked to DXS7, DXS255, and DXS14) and RP3 (linked to DXS84 and OTC) on the short arm of the X chromosome. In order to contribute to phenotype-genotype correlations in X linked RP, we tested the hypothesis that the two clinical profiles could be accounted for by the two different gene loci. The present study provides evidence for linkage of the clinical form with early myopia as the onset symptom with the RP2 gene (pairwise linkage to DXS255: Z = 3.13 at theta = 0), while the clinical form with later night blindness as the onset symptom is linked to the RP3 gene (pairwise linkage to OTC: Z = 4.16 at theta = 0). Images PMID:1357178

Axial diffusivity of the corona radiata correlated with ventricular size in adult hydrocephalus.

PubMed

Cauley, Keith A; Cataltepe, Oguz

2014-07-01

Hydrocephalus causes changes in the diffusion-tensor properties of periventricular white matter. Understanding the nature of these changes may aid in the diagnosis and treatment planning of this relatively common neurologic condition. Because ventricular size is a common measure of the severity of hydrocephalus, we hypothesized that a quantitative correlation could be made between the ventricular size and diffusion-tensor changes in the periventricular corona radiata. In this article, we investigated this relationship in adult patients with hydrocephalus and in healthy adult subjects. Diffusion-tensor imaging metrics of the corona radiata were correlated with ventricular size in 14 adult patients with acute hydrocephalus, 16 patients with long-standing hydrocephalus, and 48 consecutive healthy adult subjects. Regression analysis was performed to investigate the relationship between ventricular size and the diffusion-tensor metrics of the corona radiata. Subject age was analyzed as a covariable. There is a linear correlation between fractional anisotropy of the corona radiata and ventricular size in acute hydrocephalus (r = 0.784, p < 0.001), with positive correlation with axial diffusivity (r = 0.636, p = 0.014) and negative correlation with radial diffusivity (r = 0.668, p = 0.009). In healthy subjects, axial diffusion in the periventricular corona radiata is more strongly correlated with ventricular size than with patient age (r = 0.466, p < 0.001, compared with r = 0.058, p = 0.269). Axial diffusivity of the corona radiata is linearly correlated with ventricular size in healthy adults and in patients with hydrocephalus. Radial diffusivity of the corona radiata decreases linearly with ventricular size in acute hydrocephalus but is not significantly correlated with ventricular size in healthy subjects or in patients with long-standing hydrocephalus.

Non-invasive detection and monitoring of experimental hydrocephalus with distortion product otoacoustic emissions.

PubMed

Ezerarslan, Hande; Beriat, Güçlü Kaan; Nurhat, Raziye Handan; Kazancı, Burak; Çelikkan, Ferda Topal; Sabuncuoğlu, Bizden; Sabuncuoğlu, Hakan

2016-08-01

We aimed to find out the effects of short term and long term hydrocephalus and intracranial ventricular volume changes on cochlear functions by using distortion product otoacoustic emission (DPOAE) in experimental hydrocephalus rat models for the first time in literature. This study was performed with 48 healthy, adult (8 weeks old), Sprague-Dawley rats which weighed between 200 and 240g. Six groups were formed in this study: short term control, short term sham, short term hydrocephalus, long term control, long term sham and long term hydrocephalus groups. Each group contained eight rats. Short term period was 4 weeks and long term period was 8 weeks after the study started. At the end of these periods, DPOAE measurements were performed and then rats were sacrificed to determine ventricular volumes. DPOAE values at all frequencies were significantly decreased in the short term hydrocephalus group when compared to the short term control and short term sham groups. DPOAE values at all frequencies were significantly decreased in the long term hydrocephalus group when compared to the long term control and long term sham groups. Besides, long term sham group which had higher ventricular volumes than long term control group also had lower DPOAE measurements. Significant associations were present between DPOAE measurements and ventricular volumes in hydrocephalus models. The functional disturbances in cochlear functions due to hydrocephalus have been demonstrated with DPOAE measurements in this study. DPOAE measurements may be thought as an easily applicable non-invasive method in detection and follow-up of patients with hydrocephalus. Our findings should be supported with clinical studies in humans. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Sex-specific silencing of X-linked genes by Xist RNA

PubMed Central

Gayen, Srimonta; Maclary, Emily; Hinten, Michael; Kalantry, Sundeep

2016-01-01

X-inactive specific transcript (Xist) long noncoding RNA (lncRNA) is thought to catalyze silencing of X-linked genes in cis during X-chromosome inactivation, which equalizes X-linked gene dosage between male and female mammals. To test the impact of Xist RNA on X-linked gene silencing, we ectopically induced endogenous Xist by ablating the antisense repressor Tsix in mice. We find that ectopic Xist RNA induction and subsequent X-linked gene silencing is sex specific in embryos and in differentiating embryonic stem cells (ESCs) and epiblast stem cells (EpiSCs). A higher frequency of XΔTsixY male cells displayed ectopic Xist RNA coating compared with XΔTsixX female cells. This increase reflected the inability of XΔTsixY cells to efficiently silence X-linked genes compared with XΔTsixX cells, despite equivalent Xist RNA induction and coating. Silencing of genes on both Xs resulted in significantly reduced proliferation and increased cell death in XΔTsixX female cells relative to XΔTsixY male cells. Thus, whereas Xist RNA can inactivate the X chromosome in females it may not do so in males. We further found comparable silencing in differentiating XΔTsixY and 39,XΔTsix (XΔTsixO) ESCs, excluding the Y chromosome and instead implicating the X-chromosome dose as the source of the sex-specific differences. Because XΔTsixX female embryonic epiblast cells and EpiSCs harbor an inactivated X chromosome prior to ectopic inactivation of the active XΔTsix X chromosome, we propose that the increased expression of one or more X-inactivation escapees activates Xist and, separately, helps trigger X-linked gene silencing. PMID:26739568

Hydrocephalus treatment in children: long-term outcome in 975 consecutive patients.

PubMed

Beuriat, Pierre-Aurelien; Puget, Stephanie; Cinalli, Giuseppe; Blauwblomme, Thomas; Beccaria, Kevin; Zerah, Michel; Sainte-Rose, Christian

2017-07-01

OBJECTIVE Hydrocephalus remains one of the more common pathologies managed in pediatric neurosurgical units. Endoscopic third ventriculostomy (ETV) has an advantage over ventriculoperitoneal shunting as it enables patients to remain device free. Multiple shunt devices with various valve designs exist, with no one valve proven to be superior to another. The aim of this study was to describe the management of hydrocephalus and its long-term outcome. METHODS The authors retrospectively reviewed the medical records of all patients who had been treated for hydrocephalus at the Hôpital Necker-Enfants Malades in the period from 1985 to 1995. RESULTS Nine hundred seventy-five children had been treated for hydrocephalus. The mean follow-up was 11 ± 7.4 years (mean ± standard deviation). The most common cause of hydrocephalus was tumor related (32.3%), followed by malformative (24.5%) and inflammatory (20.9%) causes. Two hundred eighty patients underwent ETV as the first-line treatment. The procedure was effective in controlling hydrocephalus due to posterior fossa tumors and aqueductal stenosis. Six hundred ninety-five children had initial shunt insertion, with the majority receiving an Orbis-Sigma valve (OSV). The overall OSV shunt survival was 70% at 1 year, 58% at 10 years, and 49% at 20 years. The most common cause for mechanical shunt failure was obstruction (50.7%). Overall shunt survival was statistically different between the OSV and the differential-pressure valve (p = 0.009). CONCLUSIONS Endoscopic third ventriculostomy is effective in the management of childhood hydrocephalus. Its success is directly related to the underlying pathology. In the long term, the OSV has significantly higher event-free shunt survival than the classic differential-pressure valve systems.

SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis.

PubMed

Wang, Xin; Zhou, Ying; Wang, Jian; Tseng, I-Chu; Huang, Timothy; Zhao, Yingjun; Zheng, Qiuyang; Gao, Yue; Luo, Hong; Zhang, Xian; Bu, Guojun; Hong, Wanjin; Xu, Huaxi

2016-12-14

Hydrocephalus is a brain disorder derived from CSF accumulation due to defects in CSF clearance. Although dysfunctional apical cilia in the ependymal cell layer are causal to the onset of hydrocephalus, mechanisms underlying proper ependymal cell differentiation are largely unclear. SNX27 is a trafficking component required for normal brain function and was shown previously to suppress γ-secretase-dependent amyloid precursor protein and Notch cleavage. However, it was unclear how SNX27-dependent γ-secretase inhibition could contribute to brain development and pathophysiology. Here, we describe and characterize an Snx27-deleted mouse model for the ependymal layer defects of deciliation and hydrocephalus. SNX27 deficiency results in reductions in ependymal cells and cilia density, as well as severe postnatal hydrocephalus. Inhibition of Notch intracellular domain signaling with γ-secretase inhibitors reversed ependymal cells/cilia loss and dilation of lateral ventricles in Snx27-deficient mice, giving strong indication that Snx27 deletion triggers defects in ependymal layer formation and ciliogenesis through Notch hyperactivation. Together, these results suggest that SNX27 is essential for ependymal cell differentiation and ciliogenesis, and its deletion can promote hydrocephalus pathogenesis. Down's syndrome (DS) in humans and mouse models has been shown previously to confer a high risk for the development of pathological hydrocephalus. Because we have previously described SNX27 as a component that is consistently downregulated in DS, we present here a robust Snx27-deleted mouse model that produces hydrocephalus and associated ciliary defects with complete penetrance. In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS. Based on these findings, we anticipate that future study will determine whether modulation of a SNX27/Notch/γ-secretase pathway can also be of

Reversible grasp reflexes in normal pressure hydrocephalus.

PubMed

Thomas, Rhys H; Bennetto, Luke; Silva, Mark T

2009-05-01

We present two cases of normal pressure hydrocephalus in combination with grasp reflexes. In both cases the grasp reflexes disappeared following high volume cerebrospinal fluid removal. In one of the cases the grasp reflexes returned over a period of weeks but again resolved following definitive cerebrospinal fluid shunting surgery, and remained absent until final follow up at 9 months. We hypothesise that resolving grasp reflexes following high volume CSF removal has both diagnostic and prognostic value in normal pressure hydrocephalus, encouraging larger studies on the relevance of primitive reflexes in NPH.

Alterations of pulsation absorber characteristics in experimental hydrocephalus.

PubMed

Park, Eun-Hyoung; Dombrowski, Stephen; Luciano, Mark; Zurakowski, David; Madsen, Joseph R

2010-08-01

Analysis of waveform data in previous studies suggests that the pulsatile movement of CSF may play a role in attenuating strong arterial pulsations entering the cranium, and its effectiveness in attenuating these pulsations may be altered by changes in intracranial pressure (ICP). These findings were obtained in studies performed in canines with normal anatomy of the CSF spaces. How then would pulsation absorbance respond to changes in CSF movement under obstructive conditions such as the development of hydrocephalus? In the present study, chronic obstructive hydrocephalus was induced by the injection of cyanoacrylate gel into the fourth ventricle of canines, and pulsation absorbance was compared before and after hydrocephalus induction. Five animals were evaluated with simultaneous recordings of ICP and arterial blood pressure (ABP) before and at 4 and 12 weeks after fourth ventricle obstruction by cyanoacrylate. To assess how the intracranial system responds to the arterial pulsatile component, ABP and ICP waveforms recorded in a time domain had to be analyzed in a frequency domain. In an earlier study the authors introduced a particular technique that allows characterization of the intracranial system in the frequency domain with sufficient accuracy and efficiency. This same method was used to analyze the relationship between ABP and ICP waveforms recorded during several acute states including hyperventilation as well as CSF withdrawal and infusion under conditions before and after inducing chronic obstructive hydrocephalus. Such a relationship is reflected in terms of a gain, which is a function of frequency. The cardiac pulsation absorbance (CPA) index, which is simply derived from a gain evaluated at the cardiac frequency, was used to quantitatively evaluate the changes in pulsation absorber function associated with the development of hydrocephalus within each of the animals, which did become hydrocephalic. To account for normal and hydrocephalic conditions

Amenorrhoea and reversible infertility due to obstructive hydrocephalus: literature review and case report.

PubMed

Hamilton, Kimberly; Iskandar, Bermans

2018-02-12

Endocrine abnormalities are well-recognized consequences of intracranial pathology such as pituitary tumours. Less commonly, hydrocephalus may lead to dysfunction of the endocrine system, presenting as amenorrhoea or precocious puberty. We present a case report and literature review of hydrocephalus causing endocrine abnormalities including reversible infertility. A 34 year-old female presented with amenorrhoea and infertility. MRI showed a third ventricular mass and hydrocephalus. The amenorrhoea resolved within weeks of endoscopic third ventriculostomy and tumour biopsy; pregnancy ensued within 6 months. Thirty-two cases of hydrocephalus-related amenorrhoea were reported between 1915 and 2007. All patients who underwent modern hydrocephalus treatment experienced partial or complete resolution of endocrine dysfunction. Successful pregnancy was reported in three patients, as in our case presentation. While mechanisms of dysfunction have not been completely elucidated, studies point toward loss of GnRH pulsatility due to compression of the medio-basal hypothalamic structures. Hydrocephalus can cause endocrine dysfunction, including amenorrhoea, which may reverse with CSF diversion. Therefore, cranial imaging is an important component in the evaluation of such endocrine abnormalities.

A Comparison of Selective Pressures in Plant X-Linked and Autosomal Genes

PubMed Central

Krasovec, Marc; Filatov, Dmitry A.

2018-01-01

Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes. Our analysis, based on over 1000 genes, demonstrated that, similar to animals, X-linked genes in Silene evolve significantly faster than autosomal genes—the so-called faster-X effect. Contrary to expectations, faster-X divergence was detectable only for non-hemizygous X-linked genes. Our phylogeny-based analyses of selection revealed no evidence for faster adaptation in X-linked genes compared to autosomal genes. On the other hand, partial relaxation of purifying selection was apparent on the X-chromosome compared to the autosomes, consistent with a smaller genetic diversity in S. latifolia X-linked genes (πx = 0.016; πaut = 0.023). Thus, the faster-X divergence in S. latifolia appears to be a consequence of the smaller effective population size rather than of a faster adaptive evolution on the X-chromosome. We argue that this may be a general feature of “young” sex chromosomes, where the majority of X-linked genes are not hemizygous, preventing haploid selection in heterogametic sex. PMID:29751495

A Comparison of Selective Pressures in Plant X-Linked and Autosomal Genes.

PubMed

Krasovec, Marc; Nevado, Bruno; Filatov, Dmitry A

2018-05-03

Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes. Our analysis, based on over 1000 genes, demonstrated that, similar to animals, X-linked genes in Silene evolve significantly faster than autosomal genes—the so-called faster-X effect. Contrary to expectations, faster-X divergence was detectable only for non-hemizygous X-linked genes. Our phylogeny-based analyses of selection revealed no evidence for faster adaptation in X-linked genes compared to autosomal genes. On the other hand, partial relaxation of purifying selection was apparent on the X-chromosome compared to the autosomes, consistent with a smaller genetic diversity in S. latifolia X-linked genes (π x = 0.016; π aut = 0.023). Thus, the faster-X divergence in S. latifolia appears to be a consequence of the smaller effective population size rather than of a faster adaptive evolution on the X-chromosome. We argue that this may be a general feature of “young” sex chromosomes, where the majority of X-linked genes are not hemizygous, preventing haploid selection in heterogametic sex.

Outcome prediction of third ventriculostomy: a proposed hydrocephalus grading system.

PubMed

Kehler, U; Regelsberger, J; Gliemroth, J; Westphal, M

2006-08-01

An important factor in making a recommendation for different treatment modalities in hydrocephalus patients (VP shunt versus endoscopic third ventriculostomy) is the definition of the underlying pathology which determines the prognosis/outcome of the surgical procedure. Third ventriculostomies (3rd VS) are successful mainly in obstructive hydrocephalus but also in some subtypes of communicating hydrocephalus. A simple, easily applicable grading system that is designed to predict the outcome of 3rd VS is proposed. The hydrocephalus is graded on the basis of the extent of downward bulging of the floor of the third ventricle, which reflects the pressure gradient between the 3rd ventricle and the basal cisterns, presence of directly visualised CSF pathway obstruction in MRI, and the progression of the clinical symptoms resulting in five different grades. In this proposed grading system, grade 1 hydrocephalus subtype shows no downward bulged floor of the 3rd ventricle, no obstruction of the CSF pathway, and no progressive symptoms of hydrocephalus. There is no indication for 3rd VS. Grades 2 to 4 show different combinations of the described parameters. Grade 5 subtype shows a markedly downward bulged floor of the 3rd ventricle and direct detection of the CSF pathway obstruction (i.e., aqueductal stenosis) with progressive clinical deterioration. Retrospective application of this grading scheme to a series of 72 3rd VS has demonstrated a high correlation with the outcome: The success rate in grade 3 reached 40%, in grade 4: 58%, and in grade 5: 95%. This standardised grading system predicts the outcome of 3rd VS and helps in decision making for 3rd VS versus VP shunting.

Melatonin Attenuates Histopathological Changes in the Hippocampus of Infantile Rats with Kaolin-Induced Hydrocephalus.

PubMed

Turgut, Mehmet; Baka, Meral; Uyanıkgil, Yiğit

2018-05-23

Hydrocephalus is defined as an incapacitating neurological disorder characterized by ventricular enlargement in children, but the effects of melatonin on this hydrocephalus have not yet been fully elucidated. In the present experiment, we attempted to investigate the effects of exogenous melatonin administration on hydrocephalus-induced hippocampal changes in infantile rats. In this study, we randomly divided 45 Swiss albino rats aged 2 weeks into 3 groups: group I, the control group received a sham injection with needle insertion only; groups II and III were given kaolin injections before treatment - group II, the hydrocephalus group, was treated with an isotonic NaCl solution, and group III, the hydrocephalus plus melatonin group, was treated with 0.5 mg/100 g body weight of exogenous melatonin. Both immunohistochemical and histological analyses were performed after hydrocephalus induction and melatonin administration. Immunohistochemical staining consisted anti-glial fibrillary acidic protein staining. The TUNEL technique was used for defining quantitate apoptosis. Melatonin administration significantly attenuated chronic hydrocephalus-induced histopathological changes in the hippocampal subregions of infantile rats. Compared to hydrocephalic rats treated with saline solution, melatonin significantly decreased the number of apoptotic cells and pyknotic index values of each hippocampal subregion after the kaolin-induced hydrocephalus (p < 0.001). The present results demonstrate that the chronic hydrocephalus-induced histopathological changes in the hippocampus were partially reversible with melatonin treatment, suggesting its neuroprotective effects in infantile rats. However, these findings need to be confirmed by further experimental studies and clinical trials. © 2018 S. Karger AG, Basel.

[Hydrocephalus Associated with Small Clinoidal Meningioma that Resolved after Tumor Removal:A Case Report].

PubMed

Fujiwara, Hidemoto; Aiba, Toyotaka; Watanabe, Toru; Hiraishi, Tetsuya; Fujii, Yukihiko

2016-12-01

Small meningiomas causing hydrocephalus without obstruction of the ventricular system are rare. Herein, we report a case of small clinoidal meningioma with communicating hydrocephalus, which resolved after tumor removal. A 70-year-old woman presented with a 1-month history of memory disturbance followed by gait disturbance. MR images revealed a right clinoidal meningioma, 2 cm in diameter, and dilatation of the ventricles suggesting communicating hydrocephalus. The cerebrospinal fluid(CSF)pressure was 130 mmH₂O, as determined via a lumbar puncture. High concentrations of protein(65mg/dL)were detected in the lumbar CSF. The tumor was completely removed via a frontotemporal craniotomy. Higher protein concentrations(94mg/dL)were detected in the CSF obtained intraoperatively from the sylvian cistern. The histopathological diagnosis was meningothelial meningioma. The patient's symptoms improved markedly after surgery. Postoperative MR images revealed resolution of the hydrocephalus. The lumbar CSF protein concentration returned to normal(43mg/dL). Neither tumor recurrence nor progression of hydrocephalus has been observed for 4 years. Communicating hydrocephalus, associated with a small meningioma at the supratentorial region, has not been described. Previous studies have shown that patients with meningioma may develop communicating hydrocephalus after tumor removal or stereotactic radiosurgery. Thus, it is interesting that the small supratentorial meningioma in our case developed communicating hydrocephalus without any therapeutic intervention. Considering the CSF protein concentration, we speculate that the hydrocephalus was the result of CSF malabsorption associated with high CSF protein concentration and CSF pathway obstruction at the suprasellar cistern caused by the tumor.

Epidemiology of Benign External Hydrocephalus in Norway-A Population-Based Study.

PubMed

Wiig, Ulrikke S; Zahl, Sverre M; Egge, Arild; Helseth, Eirik; Wester, Knut

2017-08-01

Benign external hydrocephalus is defined as a rapidly increasing head circumference (occipitofrontal circumference) with characteristic radiological findings of increased subarachnoid cerebrospinal fluid spaces on neuroimaging. The incidence of benign external hydrocephalus has not been previously reported, and there is no available information on the ratio of benign external hydrocephalus in the population of hydrocephalic children. This study is retrospective and population-based study, geographically covering two health regions in the southern half of Norway with a total mean population of 3.34 million in the ten-year study period, constituting approximately 75% of the Norwegian population. Children with a head circumference crossing two percentiles, or greater than the 97.5th percentile, and with typical imaging findings of enlarged frontal subarachnoid spaces with or without enlarged ventricles were included. Children were excluded if they had a history of head trauma, intracranial hemorrhage, central nervous system infection, other known causes of hydrocephalus, or were born preterm defined as birth before 37 weeks of gestation. A total of 176 children fitting the criteria were identified, giving an incidence of 0.4 per 1000 live births. One hundred fifty-two (86.4%) of the patients were male, and mean age at referral was 7.3 months. Increasing head circumference was the main reason for referral in 158 (89.8%) patients and the only finding in 60 (34.1%) patients. Thirty-seven (21%) children had normal ventricles on imaging; the remainder had increased ventricular size. The incidence of pediatric hydrocephalus in Norway is reported to be 0.75 per 1000 live births, thus benign external hydrocephalus accounts for approximately 50% of hydrocephalic conditions in this population. The incidence of benign external hydrocephalus was found to be 0.4 per 1000 live births in this population. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights

Spontaneous third ventriculostomy 8 years after diagnosis of obstructive hydrocephalus.

PubMed

Öğrenci, Ahmet; Ekşi, Murat Şakir; Koban, Orkun

2016-09-01

Spontaneous ventriculostomy is spontaneous rupture of membranes separating the ventricular system from the subarachnoid space in patients with chronic obstructive hydrocephalus that ends with resolution of symptoms. We present a case of spontaneous third ventriculostomy occurred in a 19-year-old girl 8 years after the initial diagnosis of hydrocephalus. An 11-year-old girl applied to the clinic with intermittent headaches. She was neurologically stable with no visual problems. On her brain MRI, obstructive hydrocephalus was observed. Cerebrospinal fluid diversion procedures were recommended, yet the family denied any interventional procedure. She had routine follow-ups with occasional clinical admissions because of ongoing intermittent headaches. On her last clinical visit, 8 years after the first one, she was in well condition with improvement in her headache in the last 4 months. Her new brain MRI showed an active CSF flow between the basal cistern and the third ventricle. In patients with aqueductal stenosis and without any other mass lesion, wait and see protocol might be conveyed in case of mild symptoms of hydrocephalus. However, there is need for large-scaled studies to make a more comprehensive statement for benign obstructive hydrocephalus cases.

Prolonged hydrocephalus induced by intraventricular hemorrhage in rats is reduced by curcumin therapy.

PubMed

Qi, Zhihua; Zhang, Huiqin; Fu, Chuhua; Liu, Xiao; Chen, Bo; Dang, Yanwei; Chen, Huayun; Liu, Lijun

2017-01-10

Prolonged hydrocephalus is a major cause of severe disability and death of intraventricular hemorrhage (IVH) patients. However, the therapeutic options to minimize the detrimental effects of post-hemorrhagic hydrocephalus are limited. Curcumin has been reported to confer neuroprotective effects in numerous neurological diseases and injuries, but its role in IVH-induced hydrocephalus has not been determined. The aim of present study was to determine whether curcumin treatment ameliorates blood brain barrier (BBB) damage and reduces the incidence of post-hemorrhagic hydrocephalus in IVH rat model. Autologous blood intraventricular injection was used to establish the IVH model. Our results revealed that repeated intraperitoneal injection of curcumin ameliorated IVH-induced learning and memory deficits as determined by Morris water maze and reduced the incidence of post-hemorrhagic hydrocephalus in a dose-dependent manner at 28 d post-IVH induction. Further, the increased BBB permeability and brain edema induced by IVH were significantly reduced by curcumin administration. In summary, these findings highlighted the important role of curcumin in improving neurological function deficits and protecting against BBB disruption via promoting the neurovascular unit restoration, and thus it reduced the severity of post-hemorrhagic hydrocephalus in the long term. It is believed that curcumin might prove to be an effective therapeutic component in prevent the post-IVH hydrocephalus in the near future. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

In vitro flow measurements in ion sputtered hydrocephalus shunts

NASA Technical Reports Server (NTRS)

Cho, Y. I.; Back, L. H.

1989-01-01

This paper describes an experimental procedure for accurate measurements of the pressure-drop/flow rate relationship in hydrocephalus shunts. Using a fish-hook arrangement, small flow rates in a perforated ion-sputtered Teflon microtubule were measured in vitro in a pressured system and were correlated with pressure in the system. Results indicate that appropriate drainage rates could be obtained in the physiological range for hydrocephalus shunts.

Glymphatic MRI in idiopathic normal pressure hydrocephalus

PubMed Central

Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

2017-01-01

Abstract The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer’s disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic

Glymphatic MRI in idiopathic normal pressure hydrocephalus.

PubMed

Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

2017-10-01

The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer's disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic function. In

Macular hole in juvenile X-linked retinoschisis.

PubMed

Al-Swaina, Nayef; Nowilaty, Sawsan R

2013-10-01

An 18 year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confirmed, in addition to the full thickness macular hole in the left eye, microcystic spaces in the nuclear layers of both retinae. The diagnosis of X-linked retinoschisis was confirmed with a full field electroretinogram displaying the typical negative ERG. Macular holes are uncommon in the young and those complicating X-linked retinoschisis are rare. This report highlights the importance of investigating the presence of a macular hole in a young patient and illustrates the clinical and SD-OCT clues beyond the foveal center which led to the correct diagnosis of X-linked juvenile retinoschisis.

X-linked dominant retinitis pigmentosa in an American family

DOE Office of Scientific and Technical Information (OSTI.GOV)

McGuire, R.E.; Daiger, S.P.; Blanton, S.H.

1994-09-01

Retinitis pigmentosa is a genetically heterogeneous disease with autosomal dominant (adRP), autosomal recessive and X-linked forms. At least 3 forms of X-linked retinitis pigmentosa have been reported: RP2 which maps to Xp11.4-p 11.23, RP3 which maps to Xp21.1 and RP6, which maps to Xp21.3-p21.1. The X-linked forms of retinitis pigmentosa are generally considered to be recessive as female carriers are not affected or are much less affected than males. Here we report a five generation American family with X-linked retinitis pigmentosa in which both males and females are significantly affected. The disease locus in this family appears to be distinctmore » from RP2 and RP3. The American family (UTAD054) presents with early-onset retinitis pigmentosa. The family appeared to fit an autosomal dominant pattern; however, linkage testing excluded all known adRP loci. Absence of male-to-male transmission in the pedigree suggested the possibility of X-linked dominant inheritance. Thus we tested six microsatellite markers that map to Xp (DXS987, DXS989, DXS993, DXS999, DXS1003 and DXS1110). Of these, DXS989 showed tight linkage with one allele (199) showing a 100% concordance with disease status. The odds favoring an X-linked dominant mode of inheritance in this family, versus autosomal dominant, are 10{sup 5}:1. In addition, recombinations for DXS999, and dXS1110, the two markers flanking DXS989, were observed in affected individuals. These data map the disease locus in this family to a 9 mb region on the X chromosome between Xp22.11 and Xp21.41. In addition, the recombinant individuals exclude close linkage to RP2 and RP3. The observance of high penetrance in females indicates that this family has X-linked dominant retinitis pigmentosa. We suggest that this mode of inheritance should be considered in other families with dominant retinitis pigmentosa but an absence of male-to-male transmission.« less

Acute hydrocephalus caused by intraspinal neurocysticercosis: case report

PubMed Central

2014-01-01

Background Intraspinal neurocysticercosis is an uncommon manifestation that may present as an isolated lesion. Furthermore, acute hydrocephalus caused by isolated intraspinal neurocysticercosis without concomitant cerebral involvement is extremely rare. Case presentation A 64-year-old man presented with a history of severe headache, an unsteady gait, and occasional urinary incontinence. Magnetic resonance imaging of the thoraco-lumbar spine revealed multiple, cystic, contrast-enhancing intraspinal lesions. A computed tomographic scan of the brain showed marked ventricular dilatation but no intraparenchymal lesions or intraventricular cysticercal lesions. This case of acute hydrocephalus was found to be caused by isolated intraspinal neurocysticercosis and was treated by ventriculoperitoneal shunt placement and surgical removal of the intraspinal lesions (which were histologically confirmed as neurocysticercosis), followed by administration of dexamethasone and albendazole. Conclusion Isolated spinal neurocysticercosis should be considered in the differential diagnosis of acute hydrocephalus when no explanation is found in the brain, particularly in geographical regions endemic for cysticercosis. PMID:24383427

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

PubMed

Dalla Corte, Amauri; de Souza, Carolina F M; Anés, Maurício; Giugliani, Roberto

2017-07-01

The precise incidence of hydrocephalus in patients with mucopolysaccharidoses (MPS) is hard to determine, because the condition lacks a formal, consensus-based definition. The diagnosis of hydrocephalus depends on symptom profile, presence of neuroimaging features, and the outcome of diagnostic tests. Although numerous techniques are used to identify MPS patients who are most likely to have hydrocephalus and respond to treatment, no definitive method exists to prove diagnosis. The authors propose an algorithm to aid in the diagnosis and management of hydrocephalus in MPS patients. The theory of venous hypertension associated with the morphological changes in the skull base and craniocervical junction indicate the need for future neuroimaging studies including cerebrospinal fluid (CSF) and venous flow measurements to monitor hydrocephalus progression and select therapeutic interventions in MPS patients. Preoperative planning should also be based on the increased risk of intraoperative and postoperative hemorrhagic complications.

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.

PubMed

González-Del Angel, Ariadna; Estandía-Ortega, Bernardette; Alcántara-Ortigoza, Miguel Angel; Martínez-Cruz, Víctor; Gutiérrez-Tinajero, Diana Judith; Rasmussen, Astrid; Gómez-González, Claudia Sofía

2016-12-01

Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with variable extracranial anomalies. We studied 56 unrelated patients with non-syndromic uni- or bicoronal craniosynostosi to identify the frequency and clinical characteristics of MS in a cohort of Mexican childrens. The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested. All heterozygotes for p.Pro250Arg underwent clinical and audiologic assessment, as well as X-ray evaluations of hands and feet. Eight of 56 probands (14%) were found to carry the p.Pro250Arg variant and half of them were familial cases. Four p.Pro250Arg heterozygous familial members had been considered unaffected before the molecular testing. In one MS family, hydrocephalus without craniosynostosis, was documented as the only clinical manifestation in a previously undetected heterozygous male sibling. Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding. Our data also reinforce the notion that molecular testing of FGFR3 must be included in the diagnostic approach of coronal craniosynostosis. This will allow accurate genetic counseling and optimal management of MS, which might otherwise go undiagnosed because of mild manifestations and wide variability of expression. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

["Normal pressure" hydrocephalus].

PubMed

Philippon, Jacques

2005-03-01

Normal pressure hydrocephalus (NPH) or, more precisely, chronic adult hydrocephalus, is a complex condition. Even if the basic mechanism is found in an impediment to CSF absorption, the underlying pathology is heterogeneous. In secondary NPH, the disruption of normal CSF pathways, following meningitis or sub-arachnoid haemorrhage, is responsible for ventricular dilatation. However, in about half of the cases, the etiology remains obscure. NPH is more frequently found in elderly people, probably in relation with the increased incidence of cerebrovascular disease. The diagnosis of NPH is based upon a triad of clinical symptoms. The main symptom is gait disturbances, followed by urinary incontinence and various degree of cognitive changes. The latter two symptoms are not prerequisites for the diagnosis. Radiological ventricular dilatation without cortical sulcal enlargement is a key factor, as well as substantial clinical improvement after CSF withdrawal (CSF tap test). Other CSF dynamic studies and various imaging investigations have been proposed to improve diagnostic accuracy, but no simple test can predict the results of CSF drainage. The current treatment is ventriculo-peritonial shunting, ideally using an adjustable valve. Results are directly dependent upon the accuracy of the preoperative diagnosis. Post-surgical complications may be observed in about 10% of cases.

Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia.

PubMed

Baum, Michel; Syal, Ashu; Quigley, Raymond; Seikaly, Mouin

2006-08-01

X-linked hypophosphatemia is an X-linked dominant disorder resulting from a mutation in the PHEX gene. PHEX stands for phosphate-regulating gene with endopeptidase activity, which is located on the X chromosome. Patients with X-linked hypophosphatemia have hypophosphatemia due to renal phosphate wasting and low or inappropriately normal levels of 1,25-dihydroxyvitamin D. The renal phosphate wasting is not intrinsic to the kidney but likely due to an increase in serum levels of fibroblast growth factor-23 (FGF-23), and perhaps other phosphate-wasting peptides previously known as phosphatonins. Patients with X-linked hypophosphatemia have short stature, rickets, bone pain and dental abscesses. Current therapy is oral phosphate and vitamin D which effectively treats the rickets and bone pain but does not adequately improve short stature. In this review, we describe recent observations using Hyp mice; mice with the same mutation as patients with X-linked hypophosphatemia. We have recently found that Hyp mice have abnormal renal prostaglandin production, which may be an important factor in the pathogenesis of this disorder. Administration of FGF-23 in vivo results in phosphaturia and an increase in prostaglandin excretion, and FGF-23 increases proximal tubule prostaglandin production in vitro. In Hyp mice, indomethacin improves the phosphate transport defect in vitro and in vivo. Whether indomethacin has the same effect in patients with X-linked hypophosphatemia is unknown.

Hydrocephalus in a yellow-headed Amazon parrot (Amazona ochrocephala oratrix).

PubMed

Keller, Krista A; Guzman, David Sanchez-Migallon; Muthuswamy, Anantharaman; Forrest, Lisa J; Steinberg, Howard; Sladky, Kurt; Petersen, Sophie

2011-09-01

A 37-year-old female yellow-headed Amazon parrot (Amazona ochrocephala oratrix) was presented after a 4-month-period behavior change and intermittent episodes of obtunded mentation. Clinical findings on physical examination included ataxia, a weak grasp, and reluctance to move. Results of magnetic resonance imaging were consistent with severe hydrocephalus without evidence of cerebrospinal fluid obstruction. The bird was treated with tapering dosages of prednisolone over a 4-month period, during which time the episodes did not occur. Discontinuation of treatment was attempted several times but resulted in relapse. After 3.5 years of maintenance treatment with prednisolone, the bird was presented subsequent to a 5-hour episode of obtunded mentation and worsening neurologic signs. Despite increasing the dose of prednisolone and providing additional supportive care, the bird's condition worsened, and euthanasia was elected. Necropsy findings included severe hydrocephalus with significant loss of right cerebral parenchyma and no evidence of cerebrospinal fluid obstruction. Histologic examination of the remaining cerebral parenchyma revealed a moderate, multifocal, cellular infiltrate; encephalomalacia; fibrosis; and hemosiderosis in tissue adjacent to the distended ventricles. Other findings included hepatic vacuolar degeneration. Diagnostic imaging and postmortem findings were consistent with a diagnosis of hydrocephalus ex vacuo. To our knowledge, this is the first report of hydrocephalus in an Amazon parrot as well as the first report of hydrocephalus in any avian species associated with long-term follow-up and prolonged corticosteroid treatment.

Stereotactic CO2 laser therapy for hydrocephalus

NASA Astrophysics Data System (ADS)

Kozodoy-Pins, Rebecca L.; Harrington, James A.; Zazanis, George A.; Nosko, Michael G.; Lehman, Richard M.

1994-05-01

A new fiber-optic delivery system for CO2 radiation has been used to successfully treat non-communicating hydrocephalus. This system consists of a hollow sapphire waveguide employed in the lumen of a stereotactically-guided neuroendoscope. CO2 gas flows through the bore of the hollow waveguide, creating a path for the laser beam through the cerebrospinal fluid (CSF). This delivery system has the advantages of both visualization and guided CO2 laser radiation without the same 4.3 mm diameter scope. Several patients with hydrocephalus were treated with this new system. The laser was used to create a passage in the floor of the ventricle to allow the flow of CSF from the ventricles to the sub-arachnoid space. Initial postoperative results demonstrated a relief of the clinical symptoms. Long-term results will indicate if this type of therapy will be superior to the use of implanted silicone shunts. Since CO2 laser radiation at 10.6 micrometers is strongly absorbed by the water in tissue and CSF, damage to tissue surrounding the lesion with each laser pulse is limited. The accuracy and safety of this technique may prove it to be an advantageous therapy for obstructive hydrocephalus.

Pediatric Hydrocephalus in Ethiopia: Treatment Failures and Infections: A Hospital-Based, Retrospective Study.

PubMed

Laeke, Tsegazeab; Tirsit, Abenezer; Biluts, Hagos; Murali, Deeptha; Wester, Knut

2017-04-01

Treatment of pediatric hydrocephalus in sub-Saharan countries is associated with significant complication rates. The objective of this study is to analyze the management of hydrocephalus and complication rates of surgical intervention in the Ethiopian setting to improve future quality. A retrospective cohort study was conducted in a neurosurgical teaching hospital. Two cohorts separated by 2.5 years were analyzed. A total of 128 (58.6% male and 41.4% female) children with isolated hydrocephalus, meningomyelocele (MMC)-related hydrocephalus, or MMC without hydrocephalus were included. Their age ranged from 1 day to 5 years, for a mean age of 7.2 months (median age 2 months). One hundred thirteen patients had hydrocephalus, of whom 57 (44.5.3%) had isolated hydrocephalus and 56 (43.8%) had hydrocephalus associated with MMC. Seventy-seven (74.7%) patients underwent ventriculoperitoneal (VP) shunting, whereas 24 (23.3%) underwent endoscopic third ventriculostomy (ETV). The incidence of shunt infection was 23.4%. Reoperation was needed in 54 (52.4%) patients, with the most common indication being shunt failure. ETV failed in 14 (58.3%) of the 24 patients undergoing ETV. VP shunt insertions had unacceptably high infection rate despite the presence of a protocol for the procedure. Intraoperative guidelines should be developed further and followed strictly to reduce infections. Such measures should include restricting the number of surgeons performing the procedure. In our opinion, one should avoid insertion of a VP shunt as the primary treatment. ETV has proved to be a good alternative in other studies and the decreasing pattern of ETV failure in our study also suggest ETV as a better alternative to VP shunt. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

Biodriven microsystem for treatment of hydrocephalus

NASA Astrophysics Data System (ADS)

Joswig, Jurgen; Oswald, Jens; Seifert, Steffen

1995-09-01

A microvalve system made of silicon for use in hydrocephalus therapy is presented, which will provide an excellent intracranial pressure stabilization. Design and processing are described. Testing results (in vitro) are presented.

The Risk Factors for Hydrocephalus and Subdural Hygroma after Decompressive Craniectomy in Head Injured Patients.

PubMed

Ki, Hee Jong; Lee, Hyung-Jin; Lee, Hong-Jae; Yi, Jin-Seok; Yang, Ji-Ho; Lee, Il-Woo

2015-09-01

The present study aims to investigate 1) the risk factors for hydrocephalus and subdural hygroma (SDG) occurring after decompressive craniectomy (DC), and 2) the association between the type of SDG and hydrocephalus. We retrospectively reviewed the clinical and radiological features of 92 patients who underwent DC procedures after severe head injuries. The risk factors for developing post-traumatic hydrocephalus (PTH) and SDG were analyzed. Types of SDGs were classified according to location and their relationship with hydrocephalus was investigated. Ultimately, 26.09% (24/92) of these patients developed PTH. In the univariate analyses, hydrocephalus was statically associated with large bone flap diameter, large craniectomy area, bilateral craniectomy, intraventricular hemorrhage, contralateral or interhemisheric SDGs, and delayed cranioplasty. However, in the multivariate analysis, only large craniectomy area (adjusted OR=4.66; p=0.0239) and contralateral SDG (adjusted OR=6.62; p=0.0105) were significant independent risk factors for developing hydrocephalus after DC. The incidence of overall SDGs after DC was 55.43% (51/92). Subgroup analysis results were separated by SDG types. Statistically significant associations between hydrocephalus were found in multivariate analysis in the contralateral (adjusted OR=5.58; p=0.0074) and interhemispheric (adjusted OR=17.63; p=0.0113) types. For patients who are subjected to DC following severe head trauma, hydrocephalus is associated with a large craniectomy area and contralateral SDG. For SDGs after DC that occur on the interhemispherical or controlateral side of the craniectomy, careful follow-up monitoring for the potential progression into hydrocephalus is needed.

Compensatory parameters of intracranial space in giant hydrocephalus.

PubMed

Cieślicki, Krzysztof; Czepko, Ryszard

2009-01-01

The main goal of the present study is to examine compensatory parameters of intracranial space in giant hydrocephalus. We also assess the early and late outcome and analyse complications in shunted cases. Nine cases of giant hydrocephalus characterised by the value of Evans ratio > 0.5, ventricular index > 1.5, and the width of the third ventricle > 20 mm were considered. Using the lumbar infusion test and developed software we analysed the intracranial compensatory parameters typical for hydrocephalus. Based on the Marmarou model, the method depended on a repeated search for the best fitting curve corresponding to the progress of the test was used. Eight out of nine patients were therefore shunted. Patients were followed up for 9 months. Five out of eight shunted patients undoubtedly improved in a few days after surgery (62%). Complications (subdural hygromas/haematomas and intracerebral haematoma) developed in 5 (62%) cases in longer follow-up. A definite improvement was noted in 4 out of 8 operated cases (50%). To get the stable values of compensatory parameters, the duration of the infusion test must at least double the inflexion time of the test curve. All but one considered cases of giant hydrocephalus were characterized by lack of intracranial space reserve, significantly reduced rate of CSF secretion and by various degrees of elevated value of the resistance to outflow. Due to the significant number of complications and uncertain long-term improvement, great caution in decision making for shunting has to be taken.

Morphological and Behavioral Changes in the Pathogenesis of a Novel Mouse Model of Communicating Hydrocephalus

PubMed Central

McMullen, Allison B.; Baidwan, Gurlal S.; McCarthy, Ken D.

2012-01-01

The Ro1 model of hydrocephalus represents an excellent model for studying the pathogenesis of hydrocephalus due to its complete penetrance and inducibility, enabling the investigation of the earliest cellular and histological changes in hydrocephalus prior to overt pathology. Hematoxylin and eosin staining, immunofluorescence and electron microscopy were used to characterize the histopathological events of hydrocephalus in this model. Additionally, a broad battery of behavioral tests was used to investigate behavioral changes in the Ro1 model of hydrocephalus. The earliest histological changes observed in this model were ventriculomegaly and disorganization of the ependymal lining of the aqueduct of Sylvius, which occurred concomitantly. Ventriculomegaly led to thinning of the ependyma, which was associated with periventricular edema and areas of the ventricular wall void of cilia and microvilli. Ependymal denudation was subsequent to severe ventriculomegaly, suggesting that it is an effect, rather than a cause, of hydrocephalus in the Ro1 model. Additionally, there was no closure of the aqueduct of Sylvius or any blockages within the ventricular system, even with severe ventriculomegaly, suggesting that the Ro1 model represents a model of communicating hydrocephalus. Interestingly, even with severe ventriculomegaly, there were no behavioral changes, suggesting that the brain is able to compensate for the structural changes that occur in the pathogenesis of hydrocephalus if the disorder progresses at a sufficiently slow rate. PMID:22291910

Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants.

PubMed

Borenstein-Levin, Liron; Koren, Ilana; Kugelman, Amir; Bader, David; Toropine, Arina; Riskin, Arieh

2014-11-01

We present two cases of transient central diabetes insipidus in preterm neonates with post-hemorrhagic hydrocephalus. Although the association between intraventricular hemorrhage and diabetes insipidus has been described in preterm infants, the association between diabetes insipidus and hydrocephalus, and the fact that such central diabetes insipidus could be reversible with the reduction of ventricular size, either because of spontaneous resolution or the placement of ventriculo-peritoneal shunt is first described here in neonates.

Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets.

PubMed

Sharkey, Melinda S; Grunseich, Karl; Carpenter, Thomas O

2015-07-01

X-linked hypophosphatemia is an inheritable disorder of renal phosphate wasting that clinically manifests with rachitic bone pathology. X-linked hypophosphatemia is frequently misdiagnosed and mismanaged. Optimized medical therapy is the cornerstone of treatment. Even with ideal medical management, progressive bony deformity may develop in some children and adults. Medical treatment is paramount to the success of orthopaedic surgical procedures in both children and adults with X-linked hypophosphatemia. Successful correction of complex, multiapical bone deformities found in patients with X-linked hypophosphatemia is possible with careful surgical planning and exacting surgical technique. Multiple methods of deformity correction are used, including acute and gradual correction. Treatment of some pediatric bony deformity with guided growth techniques may be possible. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

Continuous Minor Bleeding from Tumor Surface in Patients with Craniopharyngiomas: Case Series of Nonobstructive Hydrocephalus.

PubMed

Shoji, Takuhiro; Kawaguchi, Tomohiro; Ogawa, Yoshikazu; Watanabe, Mika; Fujimura, Miki; Tominaga, Teiji

2018-06-05

Nonobstructive hydrocephalus in patients with craniopharyngiomas is uncommon. We describe our surgical series of 25 consecutive patients with craniopharyngioma who presented with hydrocephalus. Obstructive hydrocephalus was evident in most cases, and nonobstructive hydrocephalus was revealed in three cases. Even after improvement of cerebrospinal fluid (CSF) pathway obstruction by tumor removal, 10 patients (40%) required CSF diversion. Preoperative imaging study revealed thin intraventricular hemorrhage or superficial siderosis in five cases, and CSF examination revealed hemosiderin-laden phagocytes in one case. These findings indicate continuous bleeding into the CSF that might be associated with CSF malabsorption. We also describe a representative case of craniopharyngioma associated with nonobstructive hydrocephalus due to continuous minor bleeding from the tumor surface in a 62-year-old man with a complaint of disorientation and a decline in daily living activity.Our study demonstrated that minor bleeding into the CSF is a possible mechanism of the development of nonobstructive hydrocephalus in patients with craniopharyngiomas. Georg Thieme Verlag KG Stuttgart · New York.

Ventriculosubgaleal shunts for posthemorrhagic hydrocephalus in premature infants.

PubMed

Willis, Brian K; Kumar, Cherukuri Ravi; Wylen, Esther L; Nanda, Anil

2005-01-01

The early management of posthemorrhagic hydrocephalus in premature infants is challenging and controversial. These infants need a temporary cerebrospinal fluid (CSF) diversion procedure until they gain adequate weight, and the blood and protein levels in CSF are reasonably low before permanent shunt can be placed. Various options are available with their associated advantages and disadvantages. Ventriculosubgaleal shunts have been recommended as a more physiologic and less invasive means of achieving this goal. We have performed this procedure in 6 premature infants to evaluate their effectiveness and complications. Six consecutive premature infants with posthemorrhagic hydrocephalus underwent placement of ventriculosubgaleal shunts over a 1-year period of time. We reviewed their clinical and imaging progress to assess the ability of the shunt to control hydrocephalus and the complication rates. In all 6 patients, the ventriculosubgaleal shunt controlled the progression of hydrocephalus as assessed by clinical and imaging parameters. A permanent shunt was avoided in 1 patient (16.6%). However, 4 patients developed shunt infections, 1 involving the ventriculosubgaleal shunt itself, and 3 immediately after conversion to ventriculoperitoneal shunt. The total infection rate of the series was 66.6%. All infections were caused by staphylococcus species. There was only a 1% shunt infection rate in our institution for all nonventriculosubgaleal shunts during the same period of time. Placement of ventriculosubgaleal shunts for interim CSF diversion in neonates with posthemorrhagic hydrocephalus is effective as a temporary method of CSF diversion. However, our experience has shown that it is associated with a unacceptably high CSF infection rate. A potential cause for infection is CSF stasis just beneath the extremely thin skin of the premature infants, promoting colonization by skin flora. CSF sampling before conversion to a permanent shunt and replacement of the proximal

Hydrocephalus research funding from the National Institutes of Health: a 10-year perspective.

PubMed

Gross, Paul; Reed, Gavin T; Engelmann, Rachel; Kestle, John R W

2014-02-01

Funding of hydrocephalus research is important to the advancement of the field. The goal of this paper is to describe the funding of hydrocephalus research from the National Institutes of Health (NIH) over a recent 10-year period. The NIH online database RePORT (Research Portfolio Online Reporting Tools) was searched using the key word "hydrocephalus." Studies were sorted by relevance to hydrocephalus. The authors analyzed funding by institute, grant type, and scientific approach over time. Over $54 million was awarded to 59 grantees for 66 unique hydrocephalus proposals from 48 institutions from 2002 to 2011. The largest sources of funding were the National Institute of Neurological Disease and Stroke and the National Institute of Child Health and Human Development. Of the total, $22 million went to clinical trials, $15 million to basic science, and $10 million to joint ventures with small business (Small Business Innovation Research or Small Business Technology Transfer). Annual funding varied from $2.3 to $8.1 million and steadily increased in the second half of the observation period. The number of new grants also went from 15 in the first 5 years to 27 in the second 5 years. A large portion of the funding has been for clinical trials. Funding for shunt-device development grew substantially. Support for training of hydrocephalus investigators has been low. Hydrocephalus research funding is low compared with that for other conditions of similar health care burden. In addition to NIH applications, researchers should pursue other funding sources. Small business collaborations appear to present an opportunity for appropriate projects.

Impact of timing of cranioplasty on hydrocephalus after decompressive hemicraniectomy in malignant middle cerebral artery infarction.

PubMed

Finger, Tobias; Prinz, Vincent; Schreck, Evelyn; Pinczolits, Alexandra; Bayerl, Simon; Liman, Thomas; Woitzik, Johannes; Vajkoczy, Peter

2017-02-01

Patients with malignant middle cerebral artery infarction frequently develop hydrocephalus after decompressive hemicraniectomy. Hydrocephalus itself and known shunt related complications after ventriculo-peritoneal shunt implantation may negatively impact patientś outcome. Here, we aimed to identify factors associated with the development of hydrocephalus after decompressive hemicraniectomy in malignant middle cerebral artery infarction. A total of 99 consecutive patients with the diagnosis of large hemispheric infarctions and the indication for decompressive hemicraniectomy were included. We retrospectively evaluated patient characteristics (gender, age and selected preoperative risk factors), stroke characteristics (side, stroke volume and existing mass effect) and surgical characteristics (size of the bone flap, initial complication rate, time to cranioplasty, complication rate following cranioplasty, type of implant, number of revision surgeries and mortality). Frequency of hydrocephalus development was 10% in our cohort. Patients who developed a hydrocephalus had an earlier time point of bone flap reimplantation compared to the control group (no hydrocephalus=164±104days, hydrocephalus=108±52days, p<0.05). Additionally, numbers of revision surgeries after cranioplasty was associated with hydrocephalus with a trend towards significance (p=0.08). Communicating hydrocephalus is frequent in patients with malignant middle cerebral artery infarction after decompressive hemicraniectomy. A later time point of cranioplasty might lead to a lower incidence of required shunting procedures in general as we could show in our patient cohort. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetics Home Reference: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

MedlinePlus

... Health Conditions IPEX syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Printable PDF Open All Close All ... expand/collapse boxes. Description Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is ...

A proposed role for efflux transporters in the pathogenesis of hydrocephalus

PubMed Central

Krishnamurthy, Satish; Tichenor, Michael D.; Satish, Akhila G.; Lehmann, David B.

2014-01-01

Hydrocephalus is a common brain disorder that is treated only with surgery. The basis for surgical treatment rests on the circulation theory. However, clinical and experimental data to substantiate circulation theory have remained inconclusive. In brain tissue and in the ventricles, we see that osmotic gradients drive water diffusion in water-permeable tissue. As the osmolarity of ventricular CSF increases within the cerebral ventricles, water movement into the ventricles increases and causes hydrocephalus. Macromolecular clearance from the ventricles is a mechanism to establish the normal CSF osmolarity, and therefore ventricular volume. Efflux transporters, (p-glycoprotein), are located along the blood brain barrier and play an important role in the clearance of macromolecules (endobiotics and xenobiotics) from the brain to the blood. There is clinical and experimental data to show that macromolecules are cleared out of the brain in normal and hydrocephalic brains. This article summarizes the existing evidence to support the role of efflux transporters in the pathogenesis of hydrocephalus. The location of p-gp along the pathways of macromolecular clearance and the broad substrate specificity of this abundant transporter to a variety of different macromolecules are reviewed. Involvement of p-gp in the transport of amyloid beta in Alzheimer disease and its relation to normal pressure hydrocephalus is reviewed. Finally, individual variability of p-gp expression might explain the variability in the development of hydrocephalus following intraventricular hemorrhage. PMID:25165050

Index of cerebrospinal compensatory reserve in hydrocephalus.

PubMed

Kim, Dong-Joo; Czosnyka, Zofia; Keong, Nicole; Radolovich, Danila K; Smielewski, Peter; Sutcliffe, Michael P F; Pickard, John D; Czosnyka, Marek

2009-03-01

An index of cerebrospinal compensatory reserve (RAP) has been introduced as a potential descriptor of neurological deterioration after head trauma. It is numerically computed as a linear correlation coefficient between the mean intracranial pressure and the pulse amplitude of the pressure waveform. We explore how RAP varies with different forms of physiological or nonphysiological intracranial volume loads in adult hydrocephalus, with and without a functioning cerebrospinal fluid (CSF) shunt. A database of intracranial pressure recordings during CSF infusion studies and overnight monitoring in hydrocephalic patients was reviewed for clinical comparison of homogeneous subgroups of patients with hypothetical differences of pressure-volume compensatory reserve. The database includes 980 patients of mixed etiology: idiopathic normal pressure hydrocephalus (NPH), 47%; postsubarachnoid hemorrhage NPH, 12%; noncommunicating hydrocephalus, 22%; others, 19%. All CSF compensatory parameters were calculated by using intracranial pressure waveforms. In NPH, RAP correlated strongly with the resistance to CSF outflow (r(s) = 0.35; P = 0.045), but weakly correlated with ventriculomegaly (r(s) = 0.13; P = 0.41). In idiopathic nonshunted NPH patients, RAP did not correlate significantly with elasticity calculated from the CSF infusion test (r(s) = 0.11; P = 0.21). During infusion studies, RAP increased in comparison to values recorded at baseline (from a median of 0.45-0.86, P = 0.14 * 10(-8)), indicating a narrowing of the volume-pressure compensatory reserve. During B-waves associated with the REM (rapid eye movement) phase of sleep, RAP increased from a median of 0.53 to 0.89; P = 1.2 * 10(-5). After shunting, RAP decreased (median before shunting, 0.59; median after shunting, 0.34; P = 0.0001). RAP also showed the ability to reflect the functional state of the shunt (patent shunt median, 0.36; blocked shunt median, 0.84; P = 0.0002). RAP appears to characterize pressure

Prediction of intracranial hypertension through noninvasive intracranial pressure waveform analysis in pediatric hydrocephalus.

PubMed

Ballestero, Matheus Fernando Manzolli; Frigieri, Gustavo; Cabella, Brenno Caetano Troca; de Oliveira, Sergio Mascarenhas; de Oliveira, Ricardo Santos

2017-09-01

The purpose of this study is to evaluate a noninvasive device to assess intracranial pressure wave form in children with hydrocephalus. A prospective and non-experimental descriptive-analytic study was performed. Fifty-six patients were enrolled in this study. They were divided in four groups: group A, children with clinically compensated hydrocephalus; B, surgically treated hydrocephalus; C, patients with acute intracranial hypertension due to hydrocephalus; and D, children without neurological disease (control). Data were collected through the installation of an extracranial deformation sensor, coupled to the children's scalp, which allowed registration of noninvasive intracranial pressure curves. Parameters obtained were analyzed: P2/P1 ratio, "classification P1 and P2 and P1 slope. P2/P1 index and "classification of P1 and P2" had a sensitivity of 80% and specificity of 100% for predicting intracranial hypertension. "P1 slope" presented no statistical difference. This study showed a useful and noninvasive method for monitoring intracranial pressure, which was able to indicate the intracranial hypertension in children with hydrocephalus and, thus, should be further investigated for clinical applications.

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.

PubMed

Christie, P T; Harding, B; Nesbit, M A; Whyte, M P; Thakker, R V

2001-08-01

X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions. We have therefore investigated 11 unrelated X-linked hypophosphatemia patients in whom coding region mutations had been excluded, for intronic mutations that may lead to mRNA splicing abnormalities, by the use of lymphoblastoid RNA and RT-PCRs. One X-linked hypophosphatemia patient was found to have 3 abnormally large transcripts, resulting from 51-bp, 100-bp, and 170-bp insertions, all of which would lead to missense peptides and premature termination codons. The origin of these transcripts was a mutation (g to t) at position +1268 of intron 7, which resulted in the occurrence of a high quality novel donor splice site (ggaagg to gtaagg). Splicing between this novel donor splice site and 3 preexisting, but normally silent, acceptor splice sites within intron 7 resulted in the occurrences of the 3 pseudoexons. This represents the first report of PHEX pseudoexons and reveals further the diversity of genetic abnormalities causing X-linked hypophosphatemia.

Theoretical considerations on the pathophysiology of normal pressure hydrocephalus (NPH) and NPH-related dementia.

PubMed

Hamlat, Abderrahmane; Adn, Mahmoudreza; Sid-ahmed, Seddik; Askar, Brahim; Pasqualini, Edouardo

2006-01-01

Normal pressure hydrocephalus (NPH) is considered to be an example of reversible dementia although clinical improvement after shunting varies from subject to subject, and recent studies have pointed to a possible link with other dementia. The authors consider that the craniospinal compartment is a partially closed sphere with control device systems represented by the spinal axis and the sagittal sinus-arachnoid villi complex which interact with each other in the clinical patient setting. We hypothesise that changing spinal compliance by altering the flow process and CSF dynamics lead to hydrocephalus. Therefore four NPH types have been distinguished according to the alterations in spinal compliance, decrease in CSF absorption at the sagittal sinus or both occurrences. The authors consider that NPH and NPH-related diseases (NPH-RD) are initiated by the same common final pathway and demonstrate that NPH could represent an initial stage of NPH-RD. Progression of clinical signs can be explained as damage to the cerebral tissue by both intermittent increased intracranial pressure and pulse pressure waves leading to periventricular ischaemia. In addition, they believe that both volume equilibrium and spinal compliance are restored in patients who improve after CSF shunt, whereas in patients whose condition does not improve, only volume equilibrium is restored and not spinal compliance, which was the underlying cause of hydrocephalus in such cases. They therefore wonder whether cervical decompression should not be indicated in patients who show no improvement. Although attractive, this analysis warrants confirmation from clinical, radiological, and hydrodynamic studies.

CSF Flow in the Brain in the Context of Normal Pressure Hydrocephalus.

PubMed

Bradley, W G

2015-05-01

CSF normally flows back and forth through the aqueduct during the cardiac cycle. During systole, the brain and intracranial vasculature expand and compress the lateral and third ventricles, forcing CSF craniocaudad. During diastole, they contract and flow through the aqueduct reverses. Hyperdynamic CSF flow through the aqueduct is seen when there is ventricular enlargement without cerebral atrophy. Therefore, patients presenting with clinical normal pressure hydrocephalus who have hyperdynamic CSF flow have been found to respond better to ventriculoperitoneal shunting than those with normal or decreased CSF flow. Patients with normal pressure hydrocephalus have also been found to have larger intracranial volumes than sex-matched controls, suggesting that they may have had benign external hydrocephalus as infants. While their arachnoidal granulations clearly have decreased CSF resorptive capacity, it now appears that this is fixed and that the arachnoidal granulations are not merely immature. Such patients appear to develop a parallel pathway for CSF to exit the ventricles through the extracellular space of the brain and the venous side of the glymphatic system. This pathway remains functional until late adulthood when the patient develops deep white matter ischemia, which is characterized histologically by myelin pallor (ie, loss of lipid). The attraction between the bare myelin protein and the CSF increases resistance to the extracellular outflow of CSF, causing it to back up, resulting in hydrocephalus. Thus idiopathic normal pressure hydrocephalus appears to be a "2 hit" disease: benign external hydrocephalus in infancy followed by deep white matter ischemia in late adulthood. © 2015 by American Journal of Neuroradiology.

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy.

PubMed

Weinhofer, Isabelle; Zierfuss, Bettina; Hametner, Simon; Wagner, Magdalena; Popitsch, Niko; Machacek, Christian; Bartolini, Barbara; Zlabinger, Gerhard; Ohradanova-Repic, Anna; Stockinger, Hannes; Köhler, Wolfgang; Höftberger, Romana; Regelsberger, Günther; Forss-Petter, Sonja; Lassmann, Hans; Berger, Johannes

2018-05-30

X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1) mutations and manifests by default as slowly progressive spinal cord axonopathy with associated demyelination (adrenomyloneuropathy). In 60% of male cases, however, X-linked adrenoleukodystrophy converts to devastating cerebral inflammation and demyelination (cerebral adrenoleukodystrophy) with infiltrating blood-derived monocytes and macrophages and cytotoxic T cells that can only be stopped by allogeneic haematopoietic stem cell transplantation or gene therapy at an early stage of the disease. Recently, we identified monocytes/macrophages but not T cells to be severely affected metabolically by ABCD1 deficiency. Here we found by whole transcriptome analysis that, although monocytes of patients with X-linked adrenoleukodystrophy have normal capacity for macrophage differentiation and phagocytosis, they are pro-inflammatory skewed also in patients with adrenomyloneuropathy in the absence of cerebral inflammation. Following lipopolysaccharide activation, the ingestion of myelin debris, normally triggering anti-inflammatory polarization, did not fully reverse the pro-inflammatory status of X-linked adrenoleukodystrophy macrophages. Immunohistochemistry on post-mortem cerebral adrenoleukodystrophy lesions reflected the activation pattern by prominent presence of enlarged lipid-laden macrophages strongly positive for the pro-inflammatory marker co-stimulatory molecule CD86. Comparative analyses of lesions with matching macrophage density in cases of cerebral adrenoleukodystrophy and acute multiple sclerosis showed a similar extent of pro-inflammatory activation but a striking reduction of anti-inflammatory mannose receptor (CD206) and haemoglobin-haptoglobin receptor (CD163) expression on cerebral adrenoleukodystrophy macrophages. Accordingly, ABCD1-deficiency leads to an impaired plasticity of macrophages that is reflected in incomplete establishment of anti-inflammatory responses

Shunting for normal pressure hydrocephalus (NPH).

PubMed

Esmonde, T; Cooke, S

2002-01-01

Since the condition was first described in 1965, the syndrome of normal pressure hydrocephalus (NPH) has conventionally been managed by placement of a cerebrospinal fluid (CSF) shunt. To determine the effectiveness of shunting procedures in promoting stability or improvement in the neurological symptoms and signs of NPH. The trials were identified from a search of the Specialized Register of the Cochrane Dementia and Cognitive Improvement Group on 26 June 2001 using the terms 'shunt*' and 'normal pressure hydrocephalus'. Studies included for analysis were those involving the placement of a CSF shunt for the treatment of NPH as part of a randomized controlled trial. No data matching the selection criteria were found. No randomized controlled trials of shunt placement versus no shunt were found. There is no evidence to indicate whether placement of a shunt is effective in the management of NPH.

Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

MedlinePlus

... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

At what age is hydrocephalus detected, and what is the role of head circumference measurements?

PubMed

Breuning-Broers, Jacqueline M; Deurloo, Jacqueline A; Gooskens, Rob H; Verkerk, Paul H

2014-02-01

To investigate at what age hydrocephalus is detected and to assess the role of head circumference measurements in detecting hydrocephalus, we performed a retrospective chart review in children with hydrocephalus treated in a tertiary paediatric hospital in the Netherlands. The study group contained 146 patients; 38 patients (31%) were referred because of abnormalities in head circumference. Eighty-nine per cent of the patients were detected in the first year of life. After this period, no patients were referred because of an abnormal head circumference. Therefore, head circumference measurements seem to have little value for detecting hydrocephalus after the first year of life.

Hydrocephalus: an underrated long-term complication of microvascular decompression for trigeminal neuralgia. A single institute experience.

PubMed

Muratorio, Francesco; Tringali, G; Levi, V; Ligarotti, G K I; Nazzi, V; Franzini, A A

2016-11-01

Hydrocephalus is a common complication of posterior fossa surgery, but its real incidence after microvascular decompression (MVD) for idiopathic trigeminal neuralgia (TN) still remains unclear. The aim of this study was to focus on the potential association between MVD and hydrocephalus as a surgery-related complication. All patients who underwent MVD procedure for idiopathic TN at our institute between 2009 and 2014 were reviewed to search for early or late postoperative hydrocephalus. There were 259 consecutive patients affected by idiopathic TN who underwent MVD procedure at our institution between 2009 and 2014 (113 men, 146 women; mean age 59 years, range 30-87 years; mean follow-up 40.92 months, range 8-48 months). Nine patients (3.47 %) developed communicating hydrocephalus after hospital discharge and underwent standard ventriculo-peritoneal shunt. No cases of acute hydrocephalus were noticed. Our study suggests that late communicating hydrocephalus may be an underrated potential long-term complication of MVD surgery.

Acute infarction of corpus callosum due to transient obstructive hydrocephalus.

PubMed

Kaymakamzade, Bahar; Eker, Amber

2016-01-01

Acute ischemia of the corpus callosum (CC) is not a well-known feature in patients with acute hydrocephalus. Herein, we describe a case with acute CC infarction due to another rare entity; transient obstructive hydrocephalus. A 66-year-old male was admitted with sudden onset right-sided hemiparesia. CT demonstrated a hematoma on the left basal ganglia with extension to all ventricles. The following day, the patient's neurological status progressed to coma and developed bilateral pyramidal signs. MRI demonstrated obstructive hydrocephalus and acute diffuse infarction accompanied by elevation of the CC. On the same day there was improvement in his neurological status with significant decrease in ventricular size and complete resolution of the clot in the third ventricle. The mechanism of signal abnormalities is probably related with the neural compression of the CC against the falx. Presumably, the clot causing obstruction in the third ventricle dissolved or decayed by the help of fibrinolytic activity of CSF, which was raised after IVH and caused spontaneous improvement of hydrocephalus. Bilateral neurological symptoms suggest diffuse axonal damage and normalization of the intracranial pressure should be performed on the early onset of clinical detorioration in order to prevent axonal injury. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

siRNAs from an X-linked satellite repeat promote X-chromosome recognition in Drosophila melanogaster.

PubMed

Menon, Debashish U; Coarfa, Cristian; Xiao, Weimin; Gunaratne, Preethi H; Meller, Victoria H

2014-11-18

Highly differentiated sex chromosomes create a lethal imbalance in gene expression in one sex. To accommodate hemizygosity of the X chromosome in male fruit flies, expression of X-linked genes increases twofold. This is achieved by the male- specific lethal (MSL) complex, which modifies chromatin to increase expression. Mutations that disrupt the X localization of this complex decrease the expression of X-linked genes and reduce male survival. The mechanism that restricts the MSL complex to X chromatin is not understood. We recently reported that the siRNA pathway contributes to localization of the MSL complex, raising questions about the source of the siRNAs involved. The X-linked 1.688 g/cm(3) satellite related repeats (1.688(X) repeats) are restricted to the X chromosome and produce small RNA, making them an attractive candidate. We tested RNA from these repeats for a role in dosage compensation and found that ectopic expression of single-stranded RNAs from 1.688(X) repeats enhanced the male lethality of mutants with defective X recognition. In contrast, expression of double-stranded hairpin RNA from a 1.688(X) repeat generated abundant siRNA and dramatically increased male survival. Consistent with improved survival, X localization of the MSL complex was largely restored in these males. The striking distribution of 1.688(X) repeats, which are nearly exclusive to the X chromosome, suggests that these are cis-acting elements contributing to identification of X chromatin.

Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting.

PubMed

Kaur, Loyal Poonamjeet; Munyiri, Nderitu Joseph; Dismus, Wekesa Vincent

2017-01-01

Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016. Patients with a diagnosis of hydrocephalus due to aqueductal stenosis were included in this study. Patients age, sex, mode of delivery, associated comorbidities, presenting complaints, neurosurgical intervention performed, Kafarnosky score were recorded. Data were divided into 2 sets based on the patient's age i.e. whether < 1 year or > 12 years. Data were recorded on google data collection form and analyzed using Google spreadsheets. Out of 258 cases of hydrocephalus, 52 had aqueductal stenosis. Male to female sex ratio for this condition was 3:2. There were 25 cases < 1year and 27 cases > 12 years old who were diagnosed with hydrocephalus due to aqueductal stenosis. Associated conditions were bilateral congenital talipes equinovarus, spina bifida, Arnold Chairi malformations, meningitis and HIV. The presenting complaints differed according to the age groups. Neurosurgical interventions included Endoscopic Third Ventriculostomy (ETV) in 21 cases, insertion of Ventriculoperitoneal (VP) shunt and ETV were done in 3 cases while the rest had only insertion of VP shunt. The Kafanosky score improve from < 50 pre-op to 19 cases achieving a score of 100, six months post-op. Aqueductal stenosis contributes a significant burden of morbidity in patients with hydrocephalus. Clinical presentation differs according to patients age. Accurate diagnosis and treatment remain a cardinal to improving patient outcome.

Genetics Home Reference: X-linked agammaglobulinemia

MedlinePlus

... Sep;104(3):221-30. Citation on PubMed Smith CIE, Berglöf A. X-Linked Agammaglobulinemia. 2001 Apr ... Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

Hydrocephalus: the role of cerebral aquaporin-4 channels and computational modeling considerations of cerebrospinal fluid.

PubMed

Desai, Bhargav; Hsu, Ying; Schneller, Benjamin; Hobbs, Jonathan G; Mehta, Ankit I; Linninger, Andreas

2016-09-01

Aquaporin-4 (AQP4) channels play an important role in brain water homeostasis. Water transport across plasma membranes has a critical role in brain water exchange of the normal and the diseased brain. AQP4 channels are implicated in the pathophysiology of hydrocephalus, a disease of water imbalance that leads to CSF accumulation in the ventricular system. Many molecular aspects of fluid exchange during hydrocephalus have yet to be firmly elucidated, but review of the literature suggests that modulation of AQP4 channel activity is a potentially attractive future pharmaceutical therapy. Drug therapy targeting AQP channels may enable control over water exchange to remove excess CSF through a molecular intervention instead of by mechanical shunting. This article is a review of a vast body of literature on the current understanding of AQP4 channels in relation to hydrocephalus, details regarding molecular aspects of AQP4 channels, possible drug development strategies, and limitations. Advances in medical imaging and computational modeling of CSF dynamics in the setting of hydrocephalus are summarized. Algorithmic developments in computational modeling continue to deepen the understanding of the hydrocephalus disease process and display promising potential benefit as a tool for physicians to evaluate patients with hydrocephalus.

Severe manifestations in carrier females in X linked retinitis pigmentosa.

PubMed Central

Souied, E; Segues, B; Ghazi, I; Rozet, J M; Chatelin, S; Gerber, S; Perrault, I; Michel-Awad, A; Briard, M L; Plessis, G; Dufier, J L; Munnich, A; Kaplan, J

1997-01-01

Retinitis pigmentosa (RP) is a group of progressive hereditary disorders of the retina in which various modes of inheritance have been described. Here, we report on X linked RP in nine families with constant and severe expression in carrier females. In our series, however, the phenotype was milder and delayed in carrier females compared to hemizygous males. This form of X linked RP could be regarded therefore as partially dominant. The disease gene maps to chromosome Xp2.1 in the genetic interval encompassing the RP3 locus (Zmax=13.71 at the DXS1100 locus). Single strand conformation polymorphism and direct sequence analysis of the retinitis pigmentosa GTPase regulator (RPGR) gene, which accounts for RP3, failed to detect any mutation in our families. Future advances in the identification of X linked RP genes will hopefully help to elucidate the molecular basis of this X linked dominant RP. Images PMID:9350809

[Contribution of phase-contrast MRI to the management of patients with normal pressure hydrocephalus: Can it predict response to shunting?].

PubMed

Mouton Paradot, Gaëlle; Baledent, Olivier; Sallioux, Guillaume; Lehmann, Pierre; Gondry-Jouet, Catherine; Le Gars, Daniel

2010-02-01

The diagnosis and management of patients with idiopathic normal-pressure hydrocephalus (NPH) remain somewhat controversial and there is no clear guideline for assessing the post-shunt outcome. The objective of this study was to investigate whether cerebrospinal fluid (CSF) flow dynamics is linked to post-shunt improvement. Fourteen NPH patients (nine males and five females; mean age, 68 years) investigated by magnetic resonance imaging (MRI) before surgical diversion of CSF were retrospectively reviewed. Phase-contrast sequences were added to the morphological clinical protocol for quantification of CSF oscillations, which were recorded at the level of the cerebral aqueduct and the C2 and C3 subarachnoid spaces (SAS). The phase-contrast images were analysed with custom-designed dedicated flow segmentation software. The oscillations measured in this hydrocephalus population were compared to a previously studied healthy population. A difference of at least two standard deviations was used to define a hyperdynamic or hypodynamic state of CSF flow. The cervical CSF flow of the hydrocephalus patients was not significantly different from those of the volunteer population. Of the 14 hydrocephalus patients, 12 had a good response to the shunt. Of these, 10 presented an increased ventricular CSF flow, one a low ventricular CSF flow, and the last one had a normal ventricular CSF flow. Phase-contrast MRI can help develop guidelines for surgical management of NPH. The shunt responders appear to be the patients with hyperdynamic ventricular CSF flow and normal cervical CSF flow. Copyright 2009 Elsevier Masson SAS. All rights reserved.

Molecular and clinical studies of X-linked deafness among Pakistani families.

PubMed

Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

2011-07-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

PubMed Central

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

Our initial experience with ventriculo-epiplooic shunt in treatment of hydrocephalus in two centers.

PubMed

Grigorean, Valentin Titus; Sandu, Aurelia Mihaela; Popescu, Mihai; Florian, Ioan Stefan; Lupascu, Cristian Dumitru; Ursulescu, Corina Lupascu

Hydrocephalus represents impairment in cerebrospinal fluid (CSF) dynamics. If the treatment of hydrocephalus is considered difficult, the repeated revisions of ventriculo-peritoneal (VP) shunts are even more challenging. The aim of this article is to evaluate the efficiency of ventriculo-epiplooic (VEp) shunt as a feasible alternative in hydrocephalic patients. A technical modification regarding the insertion of peritoneal catheter was imagined: midline laparotomy 8-10cm long was performed in order to open the peritoneal cavity; the great omentum was dissected between its two layers; we placed the distal end of the catheter between the two epiplooic layers; a fenestration of 4cm in diameter into the visceral layer was also performed. A retrospective study of medical records of 15 consecutive patients with hydrocephalus treated with VEp shunt is also presented. Between 2008 and 2014 we performed VEp shunt in 15 patients: 5 with congenital hydrocephalus, 8 with secondary hydrocephalus and 2 with normal pressure hydrocephalus. There were 7 men and 8 women. VEp shunt was performed in 13 patients with multiple distal shunt failures and in 2 patients, with history of abdominal surgery, as de novo extracranial drainage procedure. The outcome was favorable in all cases, with no significant postoperative complications. VEp shunt is a new, safe and efficient surgical technique for the treatment of hydrocephalus. VEp shunt is indicated in patients with history of recurrent distal shunt failures, and in patients with history of open abdominal surgery and high risk for developing abdominal complications. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).

PubMed

Tonni, Gabriele; Palmisano, Marcella; Ginocchi, Vladimiro; Ventura, Alessandro; Baldi, Maurizia; Baffico, Ave Maria

2014-11-01

Prenatal diagnosis of thanatophoric dysplasia (TD) type II presenting in the first trimester with increased nuchal translucency (NT) and cloverleaf skull (Kleeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased NT associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a de novo mutation encoding for TD type II. The findings of dysmorphic choroid plexus, early onset hydrocephalus and cloverleaf skull at first trimester scan may be early, useful ultrasound markers of TD type II. Molecular analysis to control for possible overlapping syndromes were performed and resulted negative. Postmortem X-ray and 3D-CT scan confirmed the cloverleaf skull, narrow thorax, straight femur with rhizomelic shortening of the limbs and the presence of a communicating hydrocephalus. © 2014 Japanese Teratology Society.

Communicating Hydrocephalus Associated with Small- to Medium-Sized Vestibular Schwannomas: Clinical Significance of the Tumor Apparent Diffusion Coefficient Map.

PubMed

Taniguchi, Masaaki; Nakai, Tomoaki; Kohta, Masaaki; Kimura, Hidehito; Kohmura, Eiji

2016-10-01

The etiology of hydrocephalus associated with the small- to medium-sized vestibular schwannomas is still controversial. We investigated tumor-specific factors related to the association of hydrocephalus with small- to medium-sized vestibular schwannomas. Among the 77 patients with vestibular schwannoma smaller than 30 mm, 9 patients demonstrated associated communicating hydrocephalus. Patient medical records, radiologic data, and histopathologic specimens were reviewed retrospectively. The age of the patients, and size, mean apparent diffusion coefficient (ADC) value, and histologic features of the tumors were compared with those of patients without hydrocephalus. The symptoms related to hydrocephalus improved in all patients after tumor removal. Both the mean size and ADC values exhibited a statistically significant difference between the tumors with and without hydrocephalus (P < 0.01). The size and ADC value of the tumor were significantly related to the association with hydrocephalus. The increased tumor ADC value was considered to be the result of degenerative change and suggested the involvement of protein sloughing in the etiology of the associated hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

Application of MR virtual endoscopy in children with hydrocephalus.

PubMed

Zhao, Cailei; Yang, Jian; Gan, Yungen; Liu, Jiangang; Tan, Zhen; Liang, Guohua; Meng, Xianlei; Sun, Longwei; Cao, Weiguo

2015-12-01

To evaluate the performance of MR virtual endoscopy (MRVE) in children with hydrocephalus. Clinical and imaging data were collected from 15 pediatric patients with hydrocephalus and 15 normal control children. All hydrocephalus patients were confirmed by ventriculoscopy or CT imaging. The cranial 3D-T1 weighted imaging data from fast spoiled gradient echo scan (FSPGR) were transported to working station. VE images of cerebral ventricular cavity were constructed with Navigator software. Cerebral ventricular MRVE can achieve similar results as ventriculoscopy in demonstrating the morphology of ventricular wall or intracavity lesion. In addition, MRVE can observe the lesion from distal end of obstruction, as well as other areas that are inaccessible to ventriculoscopy. MRVE can also reveal the pathological change of ventricular inner wall surface, and help determine patency of the cerebral aqueduct and fourth ventricle outlet. MR virtual endoscopy provides a non-invasive diagnostic modality that can be used as a supplemental approach to ventriculoscopy. However, its sensitivity and specificity need to be determined in the large study. Copyright © 2015 Elsevier Inc. All rights reserved.

X linked mental retardation: a clinical guide.

PubMed

Raymond, F L

2006-03-01

Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome. Systematic screening of all other X linked genes in X linked families with mental retardation is currently not feasible in a clinical setting. The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis. Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised. Thirdly, the problem of recurrence risk where a molecular genetics diagnosis has not been made and what proportion of the male excess of mental retardation is due to monogenic disorders of the X chromosome are discussed.

Social media networking in pediatric hydrocephalus: a point-prevalence analysis of utilization.

PubMed

Elkarim, Ghassan Awad; Alotaibi, Naif M; Samuel, Nardin; Wang, Shelly; Ibrahim, George M; Fallah, Aria; Weil, Alexander G; Kulkarni, Abhaya V

2017-08-01

OBJECTIVE A recent survey has shown that caregivers of children with shunt-treated hydrocephalus frequently use social media networks for support and information gathering. The objective of this study is to describe and assess social media utilization among users interested in hydrocephalus. METHODS Publicly accessible accounts and videos dedicated to the topic of hydrocephalus were comprehensively searched across 3 social media platforms (Facebook, Twitter, and YouTube) throughout March 2016. Summary statistics were calculated on standard metrics of social media popularity. A categorization framework to describe the purpose of pages, groups, accounts, channels, and videos was developed following the screening of 100 titles. Categorized data were analyzed using nonparametric tests for statistical significance. RESULTS The authors' search identified 30 Facebook pages, 213 Facebook groups, 17 Twitter accounts, and 253 YouTube videos. These platforms were run by patients, caregivers, nonprofit foundations, and patient support groups. Most accounts were from the United States (n = 196), followed by the United Kingdom (n = 31), Canada (n = 17), India (n = 15), and Germany (n = 12). The earliest accounts were created in 2007, and a peak of 65 new accounts were created in 2011. The total number of users in Facebook pages exceeded those in Facebook groups (p < 0.001). The majority of users in Facebook groups were in private groups, in contrast to public groups (p < 0.001). The YouTube videos with the highest median number of views were for surgical products and treatment procedures. CONCLUSIONS This study presents novel observations into the characteristics of social media use in the topic of hydrocephalus. Users interested in hydrocephalus seek privacy for support communications and are attracted to treatment procedure and surgical products videos. These findings provide insight into potential avenues of hydrocephalus outreach, support, or advocacy in social media.

Management of hydrocephalus associated with autoimmune diseases: a series of 19 cases.

PubMed

Ma, Baitao; Wu, Hao; Yin, Hexiang; Chang, Jianbo; Wang, Li; Wang, Renzhi; Ma, Wenbin; Li, Yongning; Guan, Jian; Liu, Jinjing; Wei, Junji

2017-11-01

To analyze the diagnosis and treatment of hydrocephalus associated with autoimmune diseases and to explore the possible mechanism of hydrocephalus in these patients. A retrospective case series study was conducted at Peking Union Medical College Hospital, Beijing, China. Files were retrieved from the hospital archives by screening records from Jan 1990 to Jan 2016. Medical records were screened for data regarding (1) the number of patients diagnosed with hydrocephalus associated with autoimmune diseases, (2) the clinical manifestation of hydrocephalus associated with autoimmune disease, and (3) the outcomes of these patients treated with medication or ventriculoperitoneal shunt (VPS). A total of 19 of 19,643 hospitalized autoimmune diseases patients were found to have hydrocephalus. Seven of the 19 patients had systemic lupus erythematosus (SLE), 3 patients had Sjögren's syndrome, 2 patients had rheumatoid arthritis (RA), 1 patient had connective tissue disease, 1 patient had juvenile idiopathic arthritis (JIA), 1 patient had Guillain-Barre syndrome (GBS), 1 patient had systemic sclerosis, 1 patient had Crohn's disease, 1 patient had relapsing polychondritis (RPC), and 1 patient had autoinflammatory disease (AID). Of the 19 patients, 13 received medication treatment, and the most commonly used drugs were corticosteroids and mannitol. A total of 6 patients received both medication therapy and VPS treatment with a programable valve. After average follow-up lengths of 11 months for patients who received VPS and 8.2 for patients who received medical treatment, the clinical symptoms of patients treated by VPS or medication were improved (83% (5/6) vs. 15.4% (2/13), respectively), patients were in stable condition (17% (1/6) vs. 30.8% (4/13), respectively), and mortality decreased (0% vs. 53.8% (7/13), respectively). VPS along with corticosteroids and immunosuppressants represents an effective treatment approach for patients who suffer from hydrocephalus associated

Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas.

PubMed

Moavero, Romina; Carai, Andrea; Mastronuzzi, Angela; Marciano, Sara; Graziola, Federica; Vigevano, Federico; Curatolo, Paolo

2017-03-01

Subependymal giant cell astrocytomas (SEGAs) are low-grade tumors affecting up to 20% of patients with tuberous sclerosis complex (TSC). Early neurosurgical resection has been the only standard treatment until few years ago when a better understanding of the molecular pathogenesis of TSC led to the use of mammalian target of rapamycin (mTOR) inhibitors. Surgical resection of SEGAs is still considered as the first line treatment in individuals with symptomatic hydrocephalus and intratumoral hemorrhage. We describe four patients with symptomatic or asymptomatic hydrocephalus who were successfully treated with the mTOR inhibitor everolimus. We collected the clinical data of four consecutive patients presenting with symptomatic or asymptomatic hydrocephalus due to a growth of subependymal giant cell atrocytomas and who could not undergo surgery for different reasons. All patients experienced a clinically significant response to everolimus and an early shrinkage of the SEGA with improvement in ventricular dilatation. Everolimus was well tolerated by all individuals. Our clinical series demonstrate a possible expanding indication for mTOR inhibition in TSC, which can be considered in patients with asymptomatic hydrocephalus or even when the symptoms already appeared. It offers a significant therapeutic alternative to individuals that once would have undergone immediate surgery. Everolimus might also allow postponement of a neurosurgical resection, making it elective with an overall lower risk. Copyright © 2016 Elsevier Inc. All rights reserved.

Health surveillance assistants as intermediates between the community and health sector in Malawi: exploring how relationships influence performance.

PubMed

Kok, Maryse C; Namakhoma, Ireen; Nyirenda, Lot; Chikaphupha, Kingsley; Broerse, Jacqueline E W; Dieleman, Marjolein; Taegtmeyer, Miriam; Theobald, Sally

2016-05-03

There is increasing global interest in how best to support the role of community health workers (CHWs) in building bridges between communities and the health sector. CHWs' intermediary position means that interpersonal relationships are an important factor shaping CHW performance. This study aimed to obtain in-depth insight into the facilitators of and barriers to interpersonal relationships between health surveillance assistants (HSAs) and actors in the community and health sector in hard-to-reach settings in two districts in Malawi, in order to inform policy and practice on optimizing HSA performance. The study followed a qualitative design. Forty-four semi-structured interviews and 16 focus group discussions were conducted with HSAs, different community members and managers in Mchinji and Salima districts. Data were recorded, transcribed, translated, coded and thematically analysed. HSAs had relatively strong interpersonal relationships with traditional leaders and volunteers, who were generally supportive of their work. From the health sector side, HSAs linked to health professionals and managers, but found them less supportive. Accountability structures at the community level were not well-established and those within the health sector were executed irregularly. Mistrust from the community, volunteers or HSAs regarding incentives and expectations that could not be met by "higher levels" undermined support structures and led to demotivation and hampered performance. Supervision and training were sometimes a source of mistrust and demotivation for HSAs, because of the perceived disinterest of supervisors, uncoordinated supervision and favouritism in selection of training participants. Rural HSAs were seen as more disadvantaged than HSAs in urban areas. HSAs' intermediary position necessitates trusting relationships between them and all actors within the community and the health sector. There is a need to improve support and accountability structures that

A Simulation of X-Linked Inheritance.

ERIC Educational Resources Information Center

Harrell, Pamela Esprivalo

1997-01-01

Describes how to lead students through a classroom-based simulation to teach a variety of concepts such as X-linked traits, sex determination, and sex anomalies. The simulation utilizes inexpensive materials such as plastic eggs that twist apart to represent human eggs and sperm. (AIM)

Obstructive hydrocephalus secondary to odontoid pannus: case report and review of literature.

PubMed

Soon, Wai Cheong; Thanabalasundaram, Gopiga; Thant, Kyaw Zayar; Ogbonnaya, Ebere Sunny; Harrisson, Stuart Edward

2018-04-01

Odontoid pannus or periodontoid pseudotumour is associated with a variety of rheumatological conditions. We report a case of an 80-year old man who presented with acute hydrocephalus following an emergency operation to amputate his infected left big toe. Imaging revealed a large tissue mass causing severe compression at the cervico-medullary junction and obstruction of CSF flow. The acute hydrocephalus was presumed to be related to neck manoeuvring during general anaesthesia. Following an initial emergency CSF diversion through external ventricular drainage catheter insertion, the patient subsequently underwent ventriculo-peritoneal insertion and posterior spinal decompression and fixation. To our knowledge, there have been no reported cases of tophaceous gout of the odontoid pannus causing acute hydrocephalus.

Visual outcome after endoscopic third ventriculostomy for hydrocephalus.

PubMed

Jung, Ji-Ho; Chai, Yong-Hyun; Jung, Shin; Kim, In-Young; Jang, Woo-Youl; Moon, Kyung-Sub; Kim, Seul-Kee; Chong, Sangjoon; Kim, Seung-Ki; Jung, Tae-Young

2018-02-01

Hydrocephalus-related symptoms are mostly improved after successful endoscopic third ventriculostomy (ETV). However, visual symptoms can be different. This study was focused on visual symptoms. We analyzed the magnetic resonance images (MRI) of the orbit and visual outcomes. From August 2006 to November 2016, 50 patients with hydrocephalus underwent ETV. The male-to-female ratio was 33:17, and the median age was 61 years (range, 5-74 years). There were 18 pediatric and 32 adult patients. Abnormal orbital MRI findings included prominent subarachnoid space around the optic nerves and vertical tortuosity of the optic nerves. We retrospectively analyzed clinical symptoms, causes of hydrocephalus, ETV success score (ETVSS), ETV success rate, ETV complications, orbital MRI findings, and visual impairment score (VIS). The median duration of follow-up was 59 months (range, 3-113 months). The most common symptoms were headache, vomiting, and gait disturbance. Visual symptoms were found in 6 patients (12%). The most common causes of hydrocephalus were posterior fossa tumor in 13 patients, pineal tumor in 12, aqueductal stenosis in 8, thalamic malignant glioma in 7, and tectal glioma in 4. ETVSS was 70 in 3 patients, 80 in 34 patients, and 90 in 13 patients. ETV success rate was 80%. ETVSS 70 showed the trend in short-term survival compared to ETVSS 90 and 80. ETV complications included epidural hematoma requiring operation in one patient, transient hemiparesis in two patients, and infection in two patients. Preoperative abnormal orbital MRI findings were found in 18 patients and postoperative findings in 7 patients. Four of six patients with visual symptoms had abnormal MR findings. Three patients did not show VIS improvement, including two with severe visual symptoms. Patients with severe visual impairment were found to have bad outcomes. The visual symptoms related with increased intracranial pressure should be carefully monitored and controlled to improve outcomes.

Escape of X-linked miRNA genes from meiotic sex chromosome inactivation

PubMed Central

Sosa, Enrique; Flores, Luis; Yan, Wei; McCarrey, John R.

2015-01-01

Past studies have indicated that transcription of all X-linked genes is repressed by meiotic sex chromosome inactivation (MSCI) during the meiotic phase of spermatogenesis in mammals. However, more recent studies have shown an increase in steady-state levels of certain X-linked miRNAs in pachytene spermatocytes, suggesting that either synthesis of these miRNAs increases or that degradation of these miRNAs decreases dramatically in these cells. To distinguish between these possibilities, we performed RNA-FISH to detect nascent transcripts from multiple miRNA genes in various spermatogenic cell types. Our results show definitively that Type I X-linked miRNA genes are subject to MSCI, as are all or most X-linked mRNA genes, whereas Type II and III X-linked miRNA genes escape MSCI by continuing ongoing, active transcription in primary spermatocytes. We corroborated these results by co-localization of RNA-FISH signals with both a corresponding DNA-FISH signal and an immunofluorescence signal for RNA polymerase II. We also found that X-linked miRNA genes that escape MSCI locate non-randomly to the periphery of the XY body, whereas genes that are subject to MSCI remain located within the XY body in pachytene spermatocytes, suggesting that the mechanism of escape of X-linked miRNA genes from MSCI involves their relocation to a position outside of the repressive chromatin domain associated with the XY body. The fact that Type II and III X-linked miRNA genes escape MSCI suggests an immediacy of function of the encoded miRNAs specifically required during the meiotic stages of spermatogenesis. PMID:26395485

[Surgical treatment of normal pressure hydrocephalus].

PubMed

Svendsen, F; Hugdahl, K; Wester, K

2001-05-30

Normal pressure hydrocephalus (NPH) is an important diagnosis to keep in mind, i.e. the possibility that NPH and not a neurodegenerative disease causes the patient's symptoms with ataxia, urinary incontinence and dementia. Clinical improvement, sometimes a complete reversal of the symptoms, may be seen after a simple surgical procedure. This prospective study was performed by testing eight consecutively shunted patients with a walking test and a cognitive test battery pre- and postoperatively. Improvement 3-4 months after the shunting procedure suggests that NPH was present in six of eight patients. Walking ability was improved after surgery, also in patients with severe dementia. Severe dementia caused by NPH is hardly reversible, though cognitive tests may indicate some improvement. However, early surgical treatment of NPH in patients not suffering from a dementia according to the Mini Mental Status Test may bring improvement in some cognitive functions. Patients with both clinical and radiological signs of normal pressure hydrocephalus should be offered a shunting procedure.

Motivation of health surveillance assistants in Malawi: A qualitative study.

PubMed

Chikaphupha, Kingsley R; Kok, Maryse C; Nyirenda, Lot; Namakhoma, Ireen; Theobald, Sally

2016-06-01

Motivation of health workers is a critical component of performance and is shaped by multiple factors. This study explored factors that influence motivation of health surveillance assistants (HSAs) in Malawi, with the aim of identifying interventions that can be applied to enhance motivation and performance of HSAs. A qualitative study capturing the perspectives of purposively selected participants was conducted in two districts: Salima and Mchinji. Participants included HSAs, health managers, and various community members. Data were collected through focus group discussions (n = 16) and in-depth interviews (n = 44). The study sample was comprised of 112 women and 65 men. Qualitative data analysis was informed by existing frameworks on factors influencing health worker motivation. Our analysis identified five key themes shaping HSA motivation: salary, accommodation, human resource management, supplies and logistics, and community links. Each of these played out at different levels-individual, family, community, and organisational-with either positive or negative effects. Demotivating factors related primarily to the organisational level, while motivating factors were more often related to individual, family, and community levels. A lack of financial incentives and shortages of basic supplies and materials were key factors demotivating HSAs. Supervision was generally perceived as unsupportive, uncoordinated, and top-down. Most HSAs complained of heavy workload. Many HSAs felt further recognition and support from the Ministry of Health, and the development of a clear career pathway would improve their motivation. Factors shaping motivation of HSAs are complex and multilayered; experiences at one level will impact other levels. Interventions are required to enhance HSA motivation, including strengthening the supervision system, developing career progression pathways, and ensuring clear and transparent incentives. HSAs have unique experiences, and there is need to hear

Acute hydrocephalus secondary to herpes simplex type II meningitis.

PubMed

Heppner, Peter A; Schweder, Patrick M; Monteith, Stephen J; Law, Andrew J J

2008-10-01

A 34-year-old woman presented with a rapid onset of meningitic symptoms. Cerebrospinal fluid (CSF) from a lumbar puncture revealed a leucocytosis with a preponderance of monocytes, elevated protein and reduced glucose. Herpes simplex virus (HSV) type II was subsequently confirmed by polymerase chain reaction (PCR) of CSF. The patient's level of consciousness deteriorated and a CT scan revealed hydrocephalus. The patient required placement of an external ventricular drain for 5 days; however, she made a full recovery without specific antiviral therapy. This is the first reported case of hydrocephalus secondary to isolated HSV type II meningitis.

Surgical management of arrested hydrocephalus: Case report, literature review, and 18-month follow-up.

PubMed

Hong, Jennifer; Barrena, Benjamin G; Lollis, S Scott; Bauer, David F

2016-12-01

Arrested hydrocephalus is stable ventriculomegaly without evidence of neurologic deterioration or symptoms. Management of arrested hydrocephalus in asymptomatic adults is controversial, with little clinical data. This case highlights the potential for decompensation in adults with arrested hydrocephalus and reviews the literature regarding pathophysiology and management of this clinical entity. A 39 year-old gentleman with arrested hydrocephalus incidentally found during work-up for new-onset seizure and managed conservatively for ten years presented with increasing headache, memory loss, gait instability and urinary and fecal incontinence. Stable massive triventriculomegaly was documented on serial brain imaging, and ophthalmologic exam revealed no papilledema. The patient underwent endoscopic third ventriculostomy with immediate post-operative improvement of headache, resolution of incontinence, and cessation of seizures. At 15 months after surgery, neuropsychiatric testing demonstrated improvement in visuomotor skills, problem solving, verbal fluency and cognitive flexibility compared to his pre-operative baseline. At 18 months after surgery he remained seizure free with full continence and significant improvement in headaches. Early recognition of arrested hydrocephalus and its potential for decompensation may prompt surgical treatment and prevent neurologic deterioration. Copyright © 2016 Elsevier B.V. All rights reserved.

Global surgery for pediatric hydrocephalus in the developing world: a review of the history, challenges, and future directions.

PubMed

Muir, Ryan T; Wang, Shelly; Warf, Benjamin C

2016-11-01

OBJECTIVE Pediatric hydrocephalus is one of the most common neurosurgical conditions and is a major contributor to the global burden of surgically treatable diseases. Significant health disparities exist for the treatment of hydrocephalus in developing nations due to a combination of medical, environmental, and socioeconomic factors. This review aims to provide the international neurosurgery community with an overview of the current challenges and future directions of neurosurgical care for children with hydrocephalus in low-income countries. METHODS The authors conducted a literature review around the topic of pediatric hydrocephalus in the context of global surgery, the unique challenges to creating access to care in low-income countries, and current international efforts to address the problem. RESULTS Developing countries face the greatest burden of pediatric hydrocephalus due to high birth rates and greater risk of neonatal infections. This burden is related to more general global health challenges, including malnutrition, infectious diseases, maternal and perinatal risk factors, and education gaps. Unique challenges pertaining to the treatment of hydrocephalus in the developing world include a preponderance of postinfectious hydrocephalus, limited resources, and restricted access to neurosurgical care. In the 21st century, several organizations have established programs that provide hydrocephalus treatment and neurosurgical training in Africa, Central and South America, Haiti, and Southeast Asia. These international efforts have employed various models to achieve the goals of providing safe, sustainable, and cost-effective treatment. CONCLUSIONS Broader commitment from the pediatric neurosurgery community, increased funding, public education, surgeon training, and ongoing surgical innovation will be needed to meaningfully address the global burden of untreated hydrocephalus.

Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion.

PubMed

Sarica, Can; Yucetas, Cem; Ozen, Ali; Ucler, Necati; Konca, Capan; Akar, Selahattin

2018-06-14

Holoprosencephaly is a rare congenital malformation resulting from an impaired midline division of the prosencephalon into distinct cerebral hemispheres. Hydrocephalus is a frequent problem among the few survivors with alobar holoprosencephaly (aHPE), its most severe form. The literature about neurosurgical management of hydrocephalus in this condition is limited and dispersed, and there are still some points that need to be resolved. We report the case of a newborn with aHPE, hydrocephalus, and central diabetes insipidus. We delineate the complexity of the management of these patients and emphasize the benefits of using an initial programmable shunt valve. Further discussion about management strategies includes reviewing previous reports and the benefits of shunting for hypothalamic osmoreceptor function. © 2018 S. Karger AG, Basel.

Control volume based hydrocephalus research

NASA Astrophysics Data System (ADS)

Cohen, Benjamin; Voorhees, Abram; Wei, Timothy

2008-11-01

Hydrocephalus is a disease involving excess amounts of cerebral spinal fluid (CSF) in the brain. Recent research has shown correlations to pulsatility of blood flow through the brain. However, the problem to date has presented as too complex for much more than statistical analysis and understanding. This talk will highlight progress on developing a fundamental control volume approach to studying hydrocephalus. The specific goals are to select physiologically control volume(s), develop conservation equations along with the experimental capabilities to accurately quantify terms in those equations. To this end, an in vitro phantom is used as a simplified model of the human brain. The phantom's design consists of a rigid container filled with a compressible gel. The gel has a hollow spherical cavity representing a ventricle and a cylindrical passage representing the aquaducts. A computer controlled piston pump supplies pulsatile volume fluctuations into and out of the flow phantom. MRI is used to measure fluid velocity, and volume change as functions of time. Independent pressure measurements and flow rate measurements are used to calibrate the MRI data. These data are used as a framework for future work with live patients.

Neuropathology and Structural Changes in Hydrocephalus

ERIC Educational Resources Information Center

Del Bigio, Marc R.

2010-01-01

In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory,…

Evidence that congenital hydrocephalus is a precursor to idiopathic normal pressure hydrocephalus in only a subset of patients

PubMed Central

Wilson, Robin K; Williams, Michael A

2007-01-01

Objective To identify the proportion of patients in a large idiopathic normal pressure hydrocephalus (INPH) cohort with large head circumference (HC) who presumably have congenital hydrocephalus that has not become clinically apparent until late in life. Methods HC was measured in 158 patients diagnosed with communicating INPH and assigned to HC centile range adjusted for height and sex. The proportion of patients with INPH and HC above the 97th, 90th or 50th centiles was compared with the proportion expected in a normal population. Results The proportion of patients with HC >90th centile was significantly larger than would be expected in a normal distribution (19.6% vs 10%, p = 0.0001), as was the proportion of patients with HC >97th centile (8.9% vs 3%, p = 0.0001). The relative association between INPH and HC >97th centile was nearly tripled (relative association 2.95; CI 1.36 to 6.41), but the relative association between INPH and HC >50th centile was not significantly higher than predicted (relative association 1.13; CI 0.95 to 1.34). Conclusion A significantly larger proportion of elderly adults with INPH have a HC greater than the 90th or 97th centile than predicted by population norms, supporting the concept that compensated congenital hydrocephalus that does not become symptomatic until late in life is one aetiology of INPH, but is not responsible for all INPH. The mechanism that leads to the development of INPH in most patients remains elusive. PMID:17202229

Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.

PubMed

Horn, Morten A; Erichsen, Martina M; Wolff, Anette S B; Månsson, Jan-Eric; Husebye, Eystein S; Tallaksen, Chantal M E; Skjeldal, Ola H

2013-09-01

X-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Among 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. Eighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 1·5% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. We found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids. © 2013 John Wiley & Sons Ltd.

Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility

PubMed Central

Núnez-Ollé, Marc; Jung, Carole; Terré, Berta; Balsiger, Norman A.; Plata, Cristina; Roset, Ramon; Pardo-Pastor, Carlos; Garrido, Marta; Rojas, Santiago; Alameda, Francesc; Lloreta, Josep; Martín-Caballero, Juan; Flores, Juana M.; Stracker, Travis H.; Valverde, Miguel A.; Muñoz, Francisco J.; Gil-Gómez, Gabriel

2017-01-01

Cyclin O (encoded by CCNO) is a member of the cyclin family with regulatory functions in ciliogenesis and apoptosis. Homozygous CCNO mutations have been identified in human patients with Reduced Generation of Multiple Motile Cilia (RGMC) and conditional inactivation of Ccno in the mouse recapitulates some of the pathologies associated with the human disease. These include defects in the development of motile cilia and hydrocephalus. To further investigate the functions of Ccno in vivo, we have generated a new mouse model characterized by the constitutive loss of Ccno in all tissues and followed a cohort during ageing. Ccno-/- mice were growth impaired and developed hydrocephalus with high penetrance. In addition, some Ccno+/- mice also developed hydrocephalus and affected Ccno-/- and Ccno+/- mice exhibited additional CNS defects including cortical thinning and hippocampal abnormalities. In addition to the CNS defects, both male and female Ccno-/- mice were infertile and female mice exhibited few motile cilia in the oviduct. Our results further establish CCNO as an important gene for normal development and suggest that heterozygous CCNO mutations could underlie hydrocephalus or diminished fertility in some human patients. PMID:29245899

Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.

PubMed

Núnez-Ollé, Marc; Jung, Carole; Terré, Berta; Balsiger, Norman A; Plata, Cristina; Roset, Ramon; Pardo-Pastor, Carlos; Garrido, Marta; Rojas, Santiago; Alameda, Francesc; Lloreta, Josep; Martín-Caballero, Juan; Flores, Juana M; Stracker, Travis H; Valverde, Miguel A; Muñoz, Francisco J; Gil-Gómez, Gabriel

2017-11-21

Cyclin O (encoded by CCNO ) is a member of the cyclin family with regulatory functions in ciliogenesis and apoptosis. Homozygous CCNO mutations have been identified in human patients with Reduced Generation of Multiple Motile Cilia (RGMC) and conditional inactivation of Ccno in the mouse recapitulates some of the pathologies associated with the human disease. These include defects in the development of motile cilia and hydrocephalus. To further investigate the functions of Ccno in vivo , we have generated a new mouse model characterized by the constitutive loss of Ccno in all tissues and followed a cohort during ageing. Ccno -/- mice were growth impaired and developed hydrocephalus with high penetrance. In addition, some Ccno +/- mice also developed hydrocephalus and affected Ccno -/- and Ccno +/- mice exhibited additional CNS defects including cortical thinning and hippocampal abnormalities. In addition to the CNS defects, both male and female Ccno -/- mice were infertile and female mice exhibited few motile cilia in the oviduct. Our results further establish CCNO as an important gene for normal development and suggest that heterozygous CCNO mutations could underlie hydrocephalus or diminished fertility in some human patients.

MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.

PubMed

Wu, An-Lun; Wang, Jung-Pan; Tseng, Yun-Ju; Liu, Laura; Kang, Yu-Chuan; Chen, Kuan-Jen; Chao, An-Ning; Yeh, Lung-Kun; Chen, Tun-Lu; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun; Wang, Nan-Kai

2018-05-01

To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography. In six X-linked retinitis pigmentosa carriers, fundus appearance varied from unremarkable to the presence of tapetal-like reflex and pigmentary changes. On FAF imaging, all carriers exhibited a bright radial reflex against a dark background. By spectral domain optical coherence tomography, loss of the ellipsoid zone in the macula was observed in 3 carriers (50%). Regarding the retinal laminar architecture, 4 carriers (66.7%) showed thinning of the outer nuclear layer and a dentate appearance of the outer plexiform layer. All five X-linked ocular albinism carriers showed a characteristic mud-splatter patterned fundus, dark radial streaks against a bright background on FAF imaging, and a normal-appearing retinal structure by spectral domain optical coherence tomography imaging. Two of the 3 CHM carriers (66.7%) showed a diffuse moth-eaten appearance of the fundus, and all 3 showed irregular hyper-FAF and hypo-FAF spots throughout the affected area. In the CHM carriers, the structural changes observed by spectral domain optical coherence tomography imaging were variable. Our findings in an Asian cohort suggest that FAF imaging is a practical diagnostic test for differentiating X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM carriers. Wide-field FAF is an easy and helpful adjunct to testing for the correct diagnosis and identification of lyonization in carriers of these three mosaic retinopathies.

Genetics Home Reference: X-linked lymphoproliferative disease

MedlinePlus

... infects most humans. In some people it causes infectious mononucleosis (commonly known as "mono"). Normally, after initial infection, ... severe susceptibility to EBV infection severe susceptibility to infectious mononucleosis X-linked lymphoproliferative syndrome XLP Related Information How ...

Obstructive Hydrocephalus Secondary to Enlarged Virchow-Robin Spaces: A Rare Cause of Pulsatile Tinnitus.

PubMed

Donaldson, Christopher; Chatha, Gurkirat; Chandra, Ronil V; Goldschlager, Tony

2017-05-01

Obstructive hydrocephalus secondary to enlarged Virchow-Robin Spaces (VRS) is a rare entity, with only a few cases reported in the literature. Presenting symptoms vary widely from headaches to dizziness. We report a case of a 31-year-old man who presented with pulsatile tinnitus and magnetic resonance imaging showing obstructive hydrocephalus secondary to tumefactive VRS. After a cerebrospinal fluid diversion procedure in the form of an endoscopic third ventriculostomy, he had almost complete resolution of his symptoms. This is the first case of obstructive hydrocephalus secondary to enlarged VRS, presenting with pulsatile tinnitus. Copyright © 2017 Elsevier Inc. All rights reserved.

Expansion of the lateral ventricles and ependymal deficits underlie the hydrocephalus evident in mice lacking the transcription factor NFIX.

PubMed

Vidovic, Diana; Harris, Lachlan; Harvey, Tracey J; Evelyn Heng, Yee Hsieh; Smith, Aaron G; Osinski, Jason; Hughes, James; Thomas, Paul; Gronostajski, Richard M; Bailey, Timothy L; Piper, Michael

2015-08-07

Nuclear factor one X (NFIX) has been shown to play a pivotal role during the development of many regions of the brain, including the neocortex, the hippocampus and the cerebellum. Mechanistically, NFIX has been shown to promote neural stem cell differentiation through the activation of astrocyte-specific genes and via the repression of genes central to progenitor cell self-renewal. Interestingly, mice lacking Nfix also exhibit other phenotypes with respect to development of the central nervous system, and whose underlying causes have yet to be determined. Here we examine one of the phenotypes displayed by Nfix(-/-) mice, namely hydrocephalus. Through the examination of embryonic and postnatal Nfix(-/-) mice we reveal that hydrocephalus is first seen at around postnatal day (P) 10 in mice lacking Nfix, and is fully penetrant by P20. Furthermore, we examined the subcommissural organ (SCO), the Sylvian aqueduct and the ependymal layer of the lateral ventricles, regions that when malformed and functionally perturbed have previously been implicated in the development of hydrocephalus. SOX3 is a factor known to regulate SCO development. Although we revealed that NFIX could repress Sox3-promoter-driven transcriptional activity in vitro, SOX3 expression within the SCO was normal within Nfix(-/-) mice, and Nfix mutant mice showed no abnormalities in the structure or function of the SCO. Moreover, these mutant mice exhibited no overt blockage of the Sylvian aqueduct. However, the ependymal layer of the lateral ventricles was frequently absent in Nfix(-/-) mice, suggesting that this phenotype may underlie the development of hydrocephalus within these knockout mice. Copyright © 2015 Elsevier B.V. All rights reserved.

Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus

PubMed Central

Limbrick, David D.; Baksh, Brandon; Morgan, Clinton D.; Habiyaremye, Gakwaya; McAllister, James P.; Inder, Terrie E.; Mercer, Deanna; Holtzman, David M.; Strahle, Jennifer; Wallendorf, Michael J.; Morales, Diego M.

2017-01-01

Introduction Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value. Methods CSF levels of amyloid precursor protein (APP) and derivative isoforms (sAPPα, sAPPβ, Aβ42), tau, phosphorylated tau (pTau), L1CAM, NCAM-1, aquaporin 4 (AQP4), and total protein (TP) were measured by ELISA in 20 children with CHC. Two comparative groups were included: age-matched controls and children with other neurological diseases. Demographic parameters, ventricular frontal-occipital horn ratio, associated brain malformations, genetic alterations, and surgical treatments were recorded. Logistic regression analysis and receiver operating characteristic curves were used to examine the association of each CSF protein with CHC. Results CSF levels of APP, sAPPα, sAPPβ, Aβ42, tau, pTau, L1CAM, and NCAM-1 but not AQP4 or TP were increased in untreated CHC. CSF TP and normalized L1CAM levels were associated with FOR in CHC subjects, while normalized CSF tau levels were associated with FOR in control subjects. Predictive ability for CHC was strongest for sAPPα, especially in subjects ≤12 months of age (p<0.0001 and AUC = 0.99), followed by normalized sAPPβ (p = 0.0001, AUC = 0.95), tau, APP, and L1CAM. Among subjects ≤12 months, a normalized CSF sAPPα cut-point of 0.41 provided the best prediction of CHC (odds ratio = 528, sensitivity = 0.94, specificity = 0.97); these infants were 32 times more likely to have CHC. Conclusions CSF proteins such as s

Hydrocephalus secondary to obstruction of the lateral apertures in two dogs.

PubMed

Kent, M; Glass, E N; Haley, A C; Shaikh, L S; Sequel, M; Blas-Machado, U; Bishop, T M; Holmes, S P; Platt, S R

2016-11-01

Traditionally, hydrocephalus is divided into communicating or non-communicating (obstructive) based on the identification of a blockage of cerebrospinal fluid (CSF) flow through the ventricular system. Hydrocephalus ex vacuo refers to ventricular enlargement as a consequence of neuroparenchymal loss. Hydrocephalus related to obstruction of the lateral apertures of the fourth ventricles has rarely been described. The clinicopathologic findings in two dogs with hydrocephalus secondary to obstruction of the lateral apertures of the fourth ventricle are reported. Signs were associated with a caudal cervical spinal cord lesion in one dog and a caudal brain stem lesion in the other dog. Magnetic resonance imaging (MRI) disclosed dilation of the ventricular system, including the lateral recesses of the fourth ventricle. In one dog, postmortem ventriculography confirmed obstruction of the lateral apertures. Microscopic changes were identified in the choroid plexus in both dogs, yet a definitive cause of the obstructions was not identified. The MRI findings in both dogs are similar to membranous occlusion of the lateral and median apertures in human patients. MRI detection of dilation of the entire ventricular system in the absence of an identifiable cause should prompt consideration of an obstruction of the lateral apertures. In future cases, therapeutic interventions aimed at re-establishing CSF flow or ventriculoperitoneal catheterisation should be considered. © 2016 Australian Veterinary Association.

Communicating hydrocephalus caused by Aspergillus flavus.

PubMed

Bryan, C S; DiSalvo, A F; Huffman, L J; Kaplan, W; Kaufman, L

1980-12-01

A patient with a past history of sporadic parenteral drug abuse had communicating hydrocephalus associated with arachnoiditis over the lumbar spinal cord. The diagnosis of aspergillosis was made by a newly described immunofluorescent staining procedure and was later confirmed by culture. The spectrum of central nervous system aspergillosis associated with drug abuse is reviewed.

Neurocysticercosis (NCC) with Hydrocephalus, Optic Atrophy and Vision Loss: A Rare Presentation.

PubMed

Chaudhary, Nagendra; Mahato, Shyam Kumar; Khan, Salamat; Pathak, Santosh; Bhatia, B D

2015-02-01

Neurocysticercosis (NCC) is one of the most common parasitic infestations (Taenia solium) of central nervous system (CNS) in children. Seizures are the common presenting symptoms. Hydrocephalus and optic atrophy are rare complications which may require neurosurgical interventions. We report a case of NCC with hydrocephalus and bilateral optic atrophy associated with vision loss in a Nepalese patient who improved with anti-parasitic therapy followed by ventriculo-peritoneal (VP) shunting.

Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10-formyltetrahydrofolate dehydrogenase.

PubMed

Naz, Naila; Jimenez, Alicia Requena; Sanjuan-Vilaplana, Anna; Gurney, Megan; Miyan, Jaleel

2016-08-01

Folate is vital in a range of biological processes and folate deficiency is associated with neurodevelopmental disorders such as neural tube defects and hydrocephalus (HC). 10-formyl-tetrahydrofolate-dehydrogenase (FDH) is a key regulator for folate availability and metabolic interconversion for the supply of 1-carbon groups. In previous studies, we found a deficiency of FDH in CSF associated with the developmental deficit in congenital and neonatal HC. In this study, we therefore aimed to investigate the role of FDH in folate transport and metabolism during the brain development of the congenital hydrocephalic Texas (H-Tx) rat and normal (Sprague-Dawley) rats. We show that at embryonic (E) stage E18 and E20, FDH-positive cells and/or vesicles derived from the cortex can bind methyl-folate similarly to folate receptor alpha, the main folate transporter. Hydrocephalic rats expressed diminished nuclear FDH in both liver and brain at all postnatal (P) ages tested (P5, P15, and P20) together with a parallel increase in hepatic nuclear methyl-folate at P5 and cerebral methylfolate at P15 and P20. A similar relationship was found between FDH and 5-methyl cytosine, the main marker for DNA methylation. The data indicated that FDH binds and transports methylfolate in the brain and that decreased liver and brain nuclear expression of FDH is linked with decreased DNA methylation which could be a key factor in the developmental deficits associated with congenital and neonatal HC. Folate deficiency is associated with neurodevelopmental disorders such as neural tube defects and hydrocephalus. 10-formyl-tetrahydrofolate-dehydrogenase (FDH) is a key regulator for folate availability and metabolic interconversion. We show that FDH binds and transports methylfolate in the brain. Moreover, we found that a deficiency of FDH in the nucleus of brain and liver is linked with decreased DNA methylation which could be a key factor in the developmental deficits associated with congenital and

Neurodevelopmental long-term outcome in children with hydrocephalus requiring neonatal surgical treatment.

PubMed

Melot, A; Labarre, A; Vanhulle, C; Rondeau, S; Brasseur, M; Gilard, V; Castel, H; Marret, S; Proust, F

2016-04-01

To assess long-term neurodevelopmental outcome in children with hydrocephalus requiring neurosurgical treatment during the neonatal period. This prospective longitudinal population-based study included 43 children with neonatal shunted hydrocephalus. The 43 children were prospectively reviewed in the presence of their parents at the outpatient clinic. Cognitive and motor outcomes were assessed respectively using different Wechsler scales according to age and Gross Motor Function Classification System (GMFCS). Postoperative MRI was routinely performed. The mean gestational age at birth of the 43 consecutive children with neonatal hydrocephalus (sex ratio M/F: 1.39) was 34.5±5.4 weeks of gestation. At mean follow-up of 10.4±4 years, mean total IQ was 73±27.7, with equivalent results in mean verbal and mean performance IQ. Of the 33 children with IQ evaluation, 18 presented an IQ≥85 (41.9%). Efficiency in walking without a mobility device (GMFCS≤2) was obtained in 37 children (86%). Only severity of postoperative ventricular dilation was significantly associated with unfavorable outcome (Evans index>0.37; odds ratio: 0.16, P=0.03). This information could be provided to those families concerned who often experience anxiety when multi-disciplinary management of neonatal hydrocephalus is required. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Cerebrospinal fluid circulation and hydrocephalus.

PubMed

Leinonen, Ville; Vanninen, Ritva; Rauramaa, Tuomas

2017-01-01

Hydrocephalus (HC) is classically defined as dynamic imbalance between the production and absorption of cerebrospinal fluid (CSF) leading to enlarged ventricles. Potential causative factors include various brain disorders like tumors causing obstruction of CSF flow within the ventricular system or the subarachnoid space. Classification of HC is based on the site of CSF flow obstruction guiding optimal treatment, with endoscopic third ventriculostomy in intraventricular obstruction and CSF shunt in communicating HC. Another clinically relevant classification is acute and chronic; the most frequent chronic form is idiopathic normal-pressure hydrocephalus (iNPH). The reported incidence of HC varies according to the study population and classification used. The incidence of congenital HC is approximately 0.4-0.6/1,000 newborns and the annual incidence of iNPH varies from 0.5/100,000 to 5.5/100,000. Radiologically, ventricular dilatation may be nonspecific, and differentiation of iNPH from other neurodegenerative diseases may be ambiguous. There are no known specific microscopic findings of HC but a systematic neuropathologic examination is needed to detect comorbid diseases and possible etiologic factors of HC. Depending on the etiology of HC, there are several nonspecific signs potentially to be seen. Copyright © 2017 Elsevier B.V. All rights reserved.

Contemporary management and surveillance strategy after shunt or endoscopic third ventriculostomy procedures for hydrocephalus.

PubMed

Janjua, M Burhan; Hoffman, Caitlin E; Souweidane, Mark M

2017-11-01

The management of hydrocephalus can be challenging even in expert hands. Due to acute presentation, recurrence, accompanying complications, the need for urgent diagnosis; a robust management plan is an absolute necessity. We devised a novel time efficient surveillance strategy during emergency, and clinic follow up settings which has never been described in the literature. We searched all articles embracing management/surveillance protocol on pediatric hydrocephalus utilizing the terms "hydrocephalus follow up" or "surveillance protocol after hydrocephalus treatment". The authors present their own strategy based on vast experience in the hydrocephalus management at a single institution. The need for the diagnostic laboratory testing, age and presentation based radiological imaging, significance of neuro-opthalmological exam, and when to consider the emergent exploration have been discussed in detail. Moreover, a definitive triaging strategy has been described with the help of flow chart diagrams for clinicians, and the neurosurgeons in practice. The triage starts from detail history, physical exam, necessary labs, radiological imaging depending on the presentation, and the age of the child. A quick head CT scan helps after shunt surgery while, a FAST sequence MRI scan (fsMRI) is important in post ETV patients. The need for neuro-opthalmological exam, and the shunt series stays vital in asymptomatic patients during regular follow up. Copyright © 2017 Elsevier Ltd. All rights reserved.

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

PubMed Central

Brancaleoni, V.; Balwani, M.; Granata, F.; Graziadei, G.; Missineo, P.; Fiorentino, V.; Fustinoni, S.; Cappellini, M.D.; Naik, H.; Desnick, R.J.; Di Pierro, E.

2015-01-01

X-linked protoporphyria (XLP), a rare erythropoietic porphyria, results from terminal exon gain-of-function mutations in the ALAS2 gene causing increased ALAS2 activity and markedly increased erythrocyte protoporphyrin levels. Patients present with severe cutaneous photosensitivity and may develop liver dysfunction. XLP was originally reported as X-linked dominant with 100% penetrance in males and females. We characterized 11 heterozygous females from six unrelated XLP families and show markedly varying phenotypic and biochemical heterogeneity, reflecting the degree of X-chromsomal inactivation of the mutant gene. ALAS2 sequencing identified the specific mutation and confirmed heterozygosity among the females. Clinical history, plasma and erythrocyte protoporphyrin levels were determined. Methylation assays of the androgen receptor and zinc-finger MYM type 3 short tandem repeat polymorphisms estimated each heterozygotes X-chromosomal inactivation pattern. Heterozygotes with equal or increased skewing, favoring expression of the wild-type allele had no clinical symptoms and only slightly increased erythrocyte protoporphyrin concentrations and/or frequency of protoporphyrin-containing peripheral blood fluorocytes. When the wild-type allele was preferentially inactivated, heterozygous females manifested the disease phenotype and had both higher erythrocyte protoporphyrin levels and circulating fluorocytes. These findings confirm that the previous dominant classification of XLP is inappropriate and genetically misleading, as the disorder is more appropriately designated XLP. PMID:25615817

Linkage localization of X-linked Charcot-Marie-Tooth disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bergoffen, J.; Trofatter, J.; Haines, J.L.

1993-02-01

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived frommore » work with four VSSR markers - AR, PGKP1, DXS453, and DXYS1X - in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 ([theta] = 0). 32 refs., 3 figs., 2 tabs.« less

X-inactivation patterns in female Leber`s hereditary optic neuropathy patients do not support a strong X-linked determinant

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pegoraro, E.; Hoffman, E.P.; Carelli, V.

1996-02-02

Leber`s hereditary optic neuropathy (LHON) accounts for about 3% of the cases of blindness in young adult males. The underlying mitochondrial pathogenesis of LHON has been well studied, with specific mitochondrial DNA (mtDNA) mutations of structural genes described and well characterized. However, enigmatic aspects of the disease are not explained by mutation data, such as the higher proportion of affected males, the later onset of the disease in females, and the presence of unaffected individuals with a high proportion of mutant mtDNA. A hypothesis which has been put forward to explain the unusual disease expression is a dual model ofmore » mtDNA and X-linked nuclear gene inheritance. If a nuclear X-linked modifier gene influences the expression of the mitochondrial-linked mutant gene then the affected females should be either homozygous for the nuclear determinant, or if heterozygous, lyonization should favor the mutant X. In order to determine if an X-linked gene predisposes to LHON phenotype we studied X-inactivation patterns in 35 females with known mtDNA mutations from 10 LHON pedigrees. Our results do not support a strong X-linked determinant in LHON cause: 2 of the 10 (20%) manifesting carriers showed skewing of X-inactivation, as did 3 of the 25 (12%) nonmanifesting carriers. 39 refs., 2 figs., 1 tab.« less

Hunter syndrome presenting as macrocephaly and hydrocephalus.

PubMed Central

Yatziv, S; Epstein, C J

1977-01-01

A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. Images PMID:146740

Ventricular-subcutaneous shunt for the treatment of experimental hydrocephalus in young rats: technical note.

PubMed

Santos, Marcelo Volpon; Garcia, Camila Araujo Bernardino; Jardini, Evelise Oliveira; Romeiro, Thais Helena; da Silva Lopes, Luiza; Machado, Hélio Rubens; de Oliveira, Ricardo Santos

2016-08-01

Hydrocephalus is a complex disease that affects cerebrospinal fluid (CSF) dynamics and is very common in children. To this date, CSF shunting is still the standard treatment for childhood hydrocephalus, but, nevertheless, the effects of such an operation on the developing brain are widely unknown. To help overcome this, experimental models of CSF shunts are surely very useful tools. The objective of this study was to describe a feasible and reliable technique of an adapted ventricular-subcutaneous shunt for the treatment of kaolin-induced hydrocephalus in young rats. We developed a ventricular-subcutaneous shunt (VSCS) technique which was used in 31 Wistar young rats with kaolin-induced hydrocephalus. Hydrocephalus was induced at 7 days of age, and shunt implantation was performed 7 days later. Our technique used a 0.7-mm gauge polypropylene catheter tunneled to a subcutaneous pocket created over the animal's back and inserted into the right lateral ventricle. All animals were sacrificed 14 days after shunt insertion. Twenty-four rats survived and remained well until the study was ended. No major complications were seen. Their weight gain went back to normal. They all underwent ambulatory behavioral testing prior and after VSCS, which showed improvement in their motor skills. We have also obtained magnetic resonance (MR) scans of 16 pups confirming reduction of ventricular size after shunting and indicating effective treatment. Histopathological analysis of brain samples before and after shunting showed reversion of ependymal and corpus callosum disruption, as well as fewer reactive astrocytes in shunted animals. An experimental CSF shunt technique was devised. Excessive CSF of hydrocephalic rats is diverted into the subcutaneous space where it can be resorbed. This technique has a low complication rate and is effective. It might be applied to various types of experimental studies involving induction and treatment of hydrocephalus.

Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus

PubMed Central

Appelbe, Oliver K.; Bollman, Bryan; Attarwala, Ali; Triebes, Lindy A.; Muniz-Talavera, Hilmarie; Curry, Daniel J.; Schmidt, Jennifer V.

2013-01-01

SUMMARY Congenital hydrocephalus, the accumulation of excess cerebrospinal fluid (CSF) in the ventricles of the brain, affects one of every 1,000 children born today, making it one of the most common human developmental disorders. Genetic causes of hydrocephalus are poorly understood in humans, but animal models suggest a broad genetic program underlying the regulation of CSF balance. In this study, the random integration of a transgene into the mouse genome led to the development of an early onset and rapidly progressive hydrocephalus. Juvenile hydrocephalus transgenic mice (JhylacZ) inherit communicating hydrocephalus in an autosomal recessive fashion with dilation of the lateral ventricles observed as early as postnatal day 1.5. Ventricular dilation increases in severity over time, becoming fatal at 4-8 weeks of age. The ependymal cilia lining the lateral ventricles are morphologically abnormal and reduced in number in JhylacZ/lacZ brains, and ultrastructural analysis revealed disorganization of the expected 9+2 microtubule pattern. Rather, the majority of JhylacZ/lacZ cilia develop axonemes with 9+0 or 8+2 microtubule structures. Disruption of an unstudied gene, 4931429I11Rik (now named Jhy) appears to underlie the hydrocephalus of JhylacZ/lacZ mice, and the Jhy transcript and protein are decreased in JhylacZ/lacZ mice. Partial phenotypic rescue was achieved in JhylacZ/lacZ mice by the introduction of a bacterial artificial chromosome (BAC) carrying 60-70% of the JHY protein coding sequence. Jhy is evolutionarily conserved from humans to basal vertebrates, but the predicted JHY protein lacks identifiable functional domains. Ongoing studies are directed at uncovering the physiological function of JHY and its role in CSF homeostasis. PMID:23906841

Craniectomy-associated Progressive Extra-Axial Collections with Treated Hydrocephalus (CAPECTH): redefining a common complication of decompressive craniectomy.

PubMed

Nalbach, Stephen V; Ropper, Alexander E; Dunn, Ian F; Gormley, William B

2012-09-01

Extra-axial fluid collections following decompressive craniectomy have been observed in a variety of patient populations. These collections have traditionally been thought to represent extra-axial signs of hydrocephalus, but they often occur even in settings where hydrocephalus has been optimally treated. This study aims to elucidate the phenomenon of extra-axial fluid collections after decompressive craniectomy in patients with treated hydrocephalus, in order to improve identification, classification, prevention and treatment. We retrospectively reviewed all patients at a single institution undergoing decompressive craniectomy for refractory intracranial pressure elevations from June 2007 through December 2009. We identified 39 patients by reviewing clinical reports and imaging. Any patient who died on or prior to the third post-operative day (POD) was excluded. The analysis focused on patients with extra-axial collections and treated hydrocephalus. Twenty-one of 34 (62%) patients developed extra-axial collections and 18 of these developed collections despite ventricular drainage. Subgroup analysis revealed that seven of seven patients (100%) with subarachnoid hemorrhage, and 11 of 14 (79%) with traumatic brain injury developed collections. Extra-axial collections may develop after decompressive craniectomy despite aggressive treatment of communicating hydrocephalus. In these patients, the term "external hydrocephalus" does not appropriately capture the relevant pathophysiology. Instead, we define a new phenomenon, "Craniectomy-associated Progressive Extra-Axial Collections with Treated Hydrocephalus" (CAPECTH), as progressive collections despite aggressive cerebral spinal fluid (CSF) drainage. Our data indicate that early cranioplasty can help prevent the formation and worsening of this condition, presumably by returning normal CSF dynamics. Copyright © 2012 Elsevier Ltd. All rights reserved.

Effects of Melatonin on the Cerebellum of Infant Rat Following Kaolin-Induced Hydrocephalus: a Histochemical and Immunohistochemical Study.

PubMed

Uyanıkgil, Yiğit; Turgut, Mehmet; Baka, Meral

2017-02-01

Hydrocephalus is a developmental disorder causing abnormally collected cerebrospinal fluid within the cerebral ventricles. It leads to bigger skulls and many dysfunctions related to the nervous system. Here, we addressed whether exogenous melatonin administration could reverse the clinical features of kaolin-induced hydrocephalus in infantile rats. A controlled double-blinded study was conducted in 2-week-old 45 Wistar albino rats, which were divided into three groups: Group A, the control group, received intracisternal sham injection with solely the needle insertion; group B, the hydrocephalus group, was treated with isotonic NaCl after kaolin injection; and group C, the hydrocephalus + melatonin group, was given i.p. exogenous melatonin at a dose of 0.5 mg/100 g body weight after kaolin injection. Histological and immunohistochemical analyses were performed after the induction of hydrocephalus and melatonin administration. Glial fibrillary acidic protein was stained by immunohistochemical method. TUNEL method was used to define and quantitate apoptosis in the cerebellar tissues. Statistical analysis was performed by nonparametric Kruskal-Wallis H test, and once significance was determined among means, post hoc pairwise comparisons were carried out using Mann-Whitney U test. We found that melatonin administration significantly ameliorated ratio of substantia grisea area/substantia alba area in the cerebellum of infantile rats. Histologically, there was a significant reduction in the number of cerebellar apoptotic cells after the hydrocephalus induced by kaolin (P < 0.05). Our results clearly revealed that the histopathological changes in the cerebellum were reversed by systemic melatonin administration in infantile rats with kaolin-induced hydrocephalus. Nevertheless, further studies are needed to suggest melatonin as a candidate protective drug in children with hydrocephalus.

The importance of the cortical subarachnoid space in understanding hydrocephalus.

PubMed

Rekate, Harold L; Nadkarni, Trimurti D; Wallace, Donna

2008-07-01

In this paper the authors define the role of the cortical subarachnoid space (CSAS) in poorly understood forms of hydrocephalus to cerebrospinal fluid (CSF) dynamics to improve understanding of the importance of the CSAS and its role in selecting patients for endoscopic third ventriculostomy (ETV). The secondary purpose of this work was to define testable hypotheses to explain enigmatic disorders of CSF dynamics and to suggest how these concepts could be tested. The magnitude of the contribution of the CSAS is explored using the solid geometry of concentric spheres. With this starting point, clinical conditions in which CSF dynamics are not easily understood are explored regarding the potential role of the CSAS. Overall, problems of CSF dynamics are easily understood. Insights may be gained when the results of a pathological process or its treatment vary from what has been expected. Acute changes in ventricular volume at the time that hydrocephalus develops, the failure of shunts, and the changes in ventricular volume with shunt repair may occur very rapidly. Changes in the volume of water in the brain, especially in the brain substance itself, are unlikely to occur at this rapid rate and may be interpreted as a simple redistribution of the CSF between the ventricle and CSAS with no initial change in the actual volume of brain parenchyma. Problems such as pseudotumor cerebri, shunt failure with nonresponsive ventricles, and negative-pressure hydrocephalus can be explained by assessing the ability of ventricular CSF to flow to the CSAS and the ability of this fluid to exit this compartment. Ventricular enlargement at the time of shunt failure implies a failure of flow between the ventricles and CSAS, implying that all patients who show this phenomenon are potential candidates for ETV. The important role of the CSAS in the pathophysiology of various forms of hydrocephalus has been largely ignored. Attention to the dynamics of the CSF in this compartment will improve

Genome-wide misexpression of X-linked versus autosomal genes associated with hybrid male sterility.

PubMed

Lu, Xuemei; Shapiro, Joshua A; Ting, Chau-Ti; Li, Yan; Li, Chunyan; Xu, Jin; Huang, Huanwei; Cheng, Ya-Jen; Greenberg, Anthony J; Li, Shou-Hsien; Wu, Mao-Lien; Shen, Yang; Wu, Chung-I

2010-08-01

Postmating reproductive isolation is often manifested as hybrid male sterility, for which X-linked genes are overrepresented (the so-called large X effect). In contrast, X-linked genes are significantly under-represented among testis-expressing genes. This seeming contradiction may be germane to the X:autosome imbalance hypothesis on hybrid sterility, in which the X-linked effect is mediated mainly through the misexpression of autosomal genes. In this study, we compared gene expression in fertile and sterile males in the hybrids between two Drosophila species. These hybrid males differ only in a small region of the X chromosome containing the Ods-site homeobox (OdsH) (also known as Odysseus) locus of hybrid sterility. Of genes expressed in the testis, autosomal genes were, indeed, more likely to be misexpressed than X-linked genes under the sterilizing action of OdsH. Since this mechanism of X:autosome interaction is only associated with spermatogenesis, a connection between X:autosome imbalance and the high rate of hybrid male sterility seems plausible.

Obstructive hydrocephalus and facial nerve palsy secondary to vertebrobasilar dolichoectasia: Case Report

PubMed Central

Mohammed, Kazim; Iqbal, Javeed; Kamel, Hussein; Mathew, John; Al-Sulaiti, Ghanem

2018-01-01

Background: Symptomatic hydrocephalus due to vertebrobasilar dolichoectasia is a rare occurrence. Case Description: We report a patient who presented with acute confusion and vomiting. Neuroimaging revealed elongated and tortuous basilar artery indenting and elevating the floor of third ventricle causing obstructive hydrocephalus. Initially, the patient was treated with external ventricular drain and then with ventriculo-peritoneal shunt. Conclusion: We suggest prompt surgical intervention upon diagnosis as a first choice of treatment in order to avoid further complications. PMID:29629227

A Mechanics-Based Framework Leading to Improved Diagnosis and Treatment of Hydrocephalus

NASA Astrophysics Data System (ADS)

Cohen, Benjamin; Soren, Vedels; Wagshul, Mark; Egnor, Michael; Voorhees, Abram; Wei, Timothy

2007-11-01

Hydrocephalus is defined as an accumulation of cerebrospinal fluid (CSF) in the cranium, at the expense of brain tissue. The result is a disruption of the normal pressure and/or flow dynamics of the intracranial blood and CSF. We seek to introduce integral control volume analysis to the study of hydrocephalus. The goal is to provide a first principles framework to integrate a broad spectrum of sometimes disparate investigations into a highly complex, multidisciplinary problem. The general technique for the implementation of control volumes to hydrocephalus will be presented. This includes factors faced in choosing control volumes and making the required measurements to evaluate mass and momentum conservation. In addition, the use of our Digital Particle Image Velocimetry (DPIV) processing program has been extended to measure the displacement of the ventricles' walls from Magnetic Resonance (MR) images. This is done to determine the volume change of the intracranial fluid spaces.

Surgical management of hydrocephalus secondary to intraventricular hemorrhage in the preterm infant.

PubMed

Christian, Eisha A; Melamed, Edward F; Peck, Edwin; Krieger, Mark D; McComb, J Gordon

2016-03-01

OBJECT Posthemorrhagic hydrocephalus (PHH) in the preterm infant remains a major neurological complication of prematurity. The authors first described insertion of a specially designed low-profile subcutaneous ventricular catheter reservoir for temporary management of hydrocephalus in 1983. This report presents the follow-up experience with the surgical management of PHH in this population and describes outcomes both in infants who were stable for permanent shunt insertion and those initially temporized with a ventricular reservoir (VR) prior to permanent ventriculoperitoneal (VP)/ventriculoatrial (VA) shunt placement. METHODS A retrospective review was undertaken of the medical records of all premature infants surgically treated for posthemorrhagic hydrocephalus (PHH) between 1997 and 2012 at Children's Hospital Los Angeles. RESULTS Over 14 years, 91 preterm infants with PHH were identified. Fifty neonates received temporizing measures via a VR that was serially tapped for varying time periods. For the remaining 41 premature infants, VP/VA shunt placement was the first procedure. Patients with a temporizing measure as their initial procedure had undergone CSF diversion significantly earlier in life than those who had permanent shunting as the initial procedure (29 vs 56 days after birth, p < 0.01). Of the infants with a VR as their initial procedure, 5/50 (10%) did not undergo subsequent VP/VA shunt placement. The number of shunt revisions and the rates of loculated hydrocephalus and shunt infection did not statistically differ between the 2 groups. CONCLUSIONS Patients with initial VR insertion as a temporizing measure received a CSF diversion procedure significantly earlier than those who received a permanent shunt as their initial procedure. Otherwise, the outcomes with regard to shunt revisions, loculated hydrocephalus, and shunt infection were not different for the 2 groups.

[No X-chromosome linked juvenile foveal retinoschisis].

PubMed

Pérez Alvarez, M J; Clement Fernández, F

2002-08-01

To describe the clinical characteristics of two cases of juvenile foveal retinoschisis in women with an atypical hereditary pattern, no X-chromosome linked. An autosomal recessive inheritance is proposed. Two generations of a family (5 members) in which only two sisters were evaluated. The complete examination of these two cases includes retinography, fluorescein angiography, automated perimetry, color vision testing, electroretinogram, electrooculogram and visually evoked potentials. Comparing our cases with the classic form of X-linked juvenile retinoschisis, they are less severely affected. The best visual acuity and the less disturbed or even normal electroretinogram confirm this fact. We emphasise the existence of isolated plaques of retinal pigment epithelium atrophy with perivascular pigment clumps without foveal schisis in one patient, which could represent an evolved form of this entity. The hereditary foveal juvenile retinoschisis in women suggests an autosomal inheritance (autosomal recessive in our cases) and presents less severe involvement (Arch Soc Esp Oftalmol 2002; 77: 443-448).

Acute hydrocephalus in a child with a third ventricle arachnoid cyst and coincidental enteroviral meningitis.

PubMed

Jeltema, Hanne-Rinck; Kuijlen, Jos M A; Hoving, Eelco W

2014-06-01

We present a 2.5-year-old child suffering from acute hydrocephalus. First, the child was diagnosed with aseptic viral meningitis. The PCR of the cerebrospinal fluid (CSF) was positive for enterovirus. Subsequently, MRI revealed that the hydrocephalus was caused by a cyst in the third ventricle. During ventriculoscopy, the cyst had all aspects of an arachnoid cyst. An endoscopic fenestration and partial removal of the cyst was performed, combined with a ventriculocisternostomy. The coincidental finding of viral meningitis and a third ventricle arachnoid cyst in a patient with acute hydrocephalus has, to our knowledge, not been described in literature before. If there is a relation between the enteroviral meningitis, the arachnoid cyst (possibly causing a pre-existing subclinical hydrocephalus) and the rapidly evolving neurological deterioration, remains speculative. Proposed mechanisms, by which the viral meningitis could accelerate the disease process, are slight brain swelling or increased CSF production. This rare combination of diagnoses could also be coincidental.

Quantitative assessment of cerebrospinal fluid hydrodynamics using a phase-contrast cine MR image in hydrocephalus.

PubMed

Kim, D S; Choi, J U; Huh, R; Yun, P H; Kim, D I

1999-09-01

This investigation was undertaken to characterize CSF flow at the level of the aqueduct of Sylvius with a phase-contrast cine MR pulse sequence in 28 healthy volunteers. Sixteen patients with obstructive hydrocephalus and 11 patients with normal pressure hydrocephalus (NPH) were investigated with the same sequence before and after CSF diversion. The peak CSF flow velocity and stroke volume in the aqueduct increased significantly in the NPH group and decreased significantly in the obstructive hydrocephalus group. After lumboperitoneal shunting in the NPH group, the retrograde flow of CSF was anterogradely converted and the peak flow velocities decreased somewhat. The clinical diagnosis of NPH was well correlated with the results of cine MRI. After endoscopic III ventriculostomy in the obstructive hydrocephalus group we noted increased CSF flow velocity with markedly increased stroke volume at the prepontine cistern. Phase-contrast cine MR is useful in evaluating CSF dynamics in patients with hyperdynamic aqueductal CSF or aqueductal obstruction.

Community Knowledge, Beliefs, Attitudes, and Practices towards Children with Spina Bifida and Hydrocephalus in Uganda

ERIC Educational Resources Information Center

Bannink, Femke; Stroeken, Koenraad; Idro, Richard; van Hove, Geert

2015-01-01

This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…

Application of ventriculoperitoneal shunt as a treatment for hydrocephalus in a dog with syringomyelia and Chiari I malformation

PubMed Central

Kim, Heejaung; Watanabe, Malaika; Nakaichi, Munekazu; Taura, Yasuho

2006-01-01

A twenty-month-old Chihuahua male dog was presented to us suffering with ataxia. Based on the physical examination, X-ray and magnetic resonance imaging (MRI) examinations, we diagnosed the dog with hydrocephalus, Chiari I malformation and syringomyelia. Treatment consisted of internal medical treatment and the placement of a ventriculoperitoneal (VP) shunt. The ventricular dilatation was relieved and the dog improved neurologically; however, the Chiari I malformation and syringomyelia remained after surgically positioning the VP shunt. PMID:16645349

Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options.

PubMed

Sikorski, Christian W; Curry, Daniel J

2005-01-01

Optimal treatment for hydrocephalus related to Dandy-Walker syndrome (DWS) remains elusive. Patients with DWS-related hydrocephalus often require combinations of shunting systems to effectively drain both the supratentorial ventricles and posterior fossa cyst. We describe an endoscopic technique, whereby a frontally placed, single-catheter shunting system effectively drained the supratentorial and infratentorial compartments. This reduces the complexity and potential risk associated with the combined shunting systems required by so many with DWS-related hydrocephalus. Copyright 2005 S. Karger AG, Basel.

Genome-wide misexpression of X-linked versus autosomal genes associated with hybrid male sterility

PubMed Central

Lu, Xuemei; Shapiro, Joshua A.; Ting, Chau-Ti; Li, Yan; Li, Chunyan; Xu, Jin; Huang, Huanwei; Cheng, Ya-Jen; Greenberg, Anthony J.; Li, Shou-Hsien; Wu, Mao-Lien; Shen, Yang; Wu, Chung-I

2010-01-01

Postmating reproductive isolation is often manifested as hybrid male sterility, for which X-linked genes are overrepresented (the so-called large X effect). In contrast, X-linked genes are significantly under-represented among testis-expressing genes. This seeming contradiction may be germane to the X:autosome imbalance hypothesis on hybrid sterility, in which the X-linked effect is mediated mainly through the misexpression of autosomal genes. In this study, we compared gene expression in fertile and sterile males in the hybrids between two Drosophila species. These hybrid males differ only in a small region of the X chromosome containing the Ods-site homeobox (OdsH) (also known as Odysseus) locus of hybrid sterility. Of genes expressed in the testis, autosomal genes were, indeed, more likely to be misexpressed than X-linked genes under the sterilizing action of OdsH. Since this mechanism of X:autosome interaction is only associated with spermatogenesis, a connection between X:autosome imbalance and the high rate of hybrid male sterility seems plausible. PMID:20511493

Genetics Home Reference: X-linked cardiac valvular dysplasia

MedlinePlus

... inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death. X-linked ... Johns Hopkins Medicine: Mitral Valve Prolapse MedlinePlus Encyclopedia: Endocarditis MedlinePlus Encyclopedia: Mitral Valve Prolapse General Information from ...

Endoscopic Removal of a Bullet That Migrated to the Third Ventricle Causing Hydrocephalus.

PubMed

Aydoseli, Aydın; Unal, Tugrul Cem; Aras, Yavuz; Sabanci, Pulat Akın; Altunrende, Emre; Izgi, Nail

2017-09-01

Hydrocephalus caused by an intraventricular bullet is a rare event. We report a case of endoscopic removal of an intraventricular bullet. A 66-year-old man was admitted with a gunshot wound to the head after a suicide attempt. The bullet migrated from the frontal parenchyma to the third ventricle day 4 of admission. On day 21 of admission, the patient developed hydrocephalus with obstruction of the cerebral aqueduct. The bullet was accessed through an endoscopic third ventriculostomy and removed using an endoscope. Hydrocephalus may develop in patients with intraventricular foreign objects. When such objects must be removed, the endoscopic approach is a safe, efficient, and minimally invasive procedure. To our knowledge, this is the first case in the literature of foreign object removal from the ventricle via a transcortical endoscopic approach. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

PubMed

Wang, Yanyan; Sivakumar, Vanessa; Mohammad, Mardhiah; Colville, Deb; Storey, Helen; Flinter, Frances; Dagher, Hayat; Savige, Judy

2014-03-01

This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome. All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre. Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease. Fourteen (93 %) individuals with autosomal recessive Alport syndrome developed early end-stage renal failure, all 15 had hearing loss, and most had lenticonus (12, 80 %), and a central (13, 87 %) or peripheral (13, 87 %) retinopathy. These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were less likely to have an affected family member in another generation (p = 0.01) than females with X-linked disease. They were more likely to have renal failure (p = 0.003), hearing loss (p = 0.02) and lenticonus (p < 0.001). Fifty percent had a central retinopathy compared with 18 % with X-linked disease (p = 0.14), but peripheral retinopathy prevalence was not different (p = 0.64). Nonsense mutations accounted for 67 % (8/12) of these disease-causing mutations. Autosomal recessive inheritance is increased in females with Alport syndrome and early onset renal failure, hearing loss, lenticonus, and, possibly, central retinopathy.

Demonstration of uneven distribution of intracranial pulsatility in hydrocephalus patients.

PubMed

Eide, Per K

2008-11-01

Data from intracranial pressure (ICP) recordings in patients with hydrocephalus were reviewed to determine whether intracranial pulsatility within the cerebrospinal fluid (CSF) of cerebral ventricles (ICP(LV)) may differ from that within the brain parenchyma (ICP(PAR)), and whether pulsatility may differ between noncommunicating ventricles. The authors retrieved data from recordings previously obtained in 7 patients with hydrocephalus (noncommunicating in 4 and communicating in 3) and shunt failure who received both an external ventricular drainage (EVD) and an ICP sensor as part of surveillance during intensive care. Simultaneous ICP(LV) and ICP(PAR) signals were available in 6 cases, and simultaneous signals from the lateral and fourth ventricles (ICP(LV) and ICP4V, respectively) were recorded in 1 case. The recordings with both signals were parsed into 6-second time windows. Pulsatility was characterized by the wave amplitude and rise time coefficient, and differences in pulsatility between the ICP(LV) and ICP(PAR) signals (6 cases) or ICP(LV) and ICP4V signals (1 case) were determined. There was uneven distribution of intracranial pulsatility in all 7 patients, shown as significantly elevated pulsatility (that is, higher wave amplitudes and rise time coefficients) within the ventricles (ICP(LV)) than within brain parenchyma (ICP(PAR)) in 6 patients, and significantly higher pulsatility in the fourth (ICP4V) than in the lateral (ICP(LV)) ventricles in 1 patient. Differences > or = 1 mm Hg in ICP wave amplitude were found in 0.5-100% (median 9.4%) of observations in the 7 patients (total number of 6-second time windows, 68,242). The present observations demonstrate uneven distribution of intracranial pulsatility in patients with hydrocephalus, higher pulse pressure amplitudes within the ventricular CSF (ICP(LV)) than within the brain parenchyma (ICP(PAR)). This may be one mechanism behind ventricular enlargement in hydrocephalus.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

PubMed

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2016-03-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

Normal-pressure hydrocephalus and the saga of the treatable dementias

DOE Office of Scientific and Technical Information (OSTI.GOV)

Friedland, R.P.

1989-11-10

A case study of a 74-year-old woman is presented which illustrates the difficulty of understanding dementing illnesses. A diagnosis of normal-pressure hydrocephalus (NPH) was made because of the development of abnormal gait, with urinary incontinence and severe, diffuse, white matter lesions on the MRI scan. Computed tomographic, MRI scans and positron emission tomographic images of glucose use are presented. The treatable dementias are a large, multifaceted group of illnesses, of which NPH is one. The author proposes a new term for this disorder commonly known as NPH because the problem with the term normal-pressure hydrocephalus is that the cerebrospinal fluidmore » pressure is not always normal in the disease.« less

X-linked mental retardation associated with macro-orchidism.

PubMed Central

Turner, G; Eastman, C; Casey, J; McLeay, A; Procopis, P; Turner, B

1975-01-01

Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes. No conclusive evidence of any endocrinological disturbance was found. Images PMID:1240971

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

DOE Office of Scientific and Technical Information (OSTI.GOV)

Prager, D.; Braunstein, G.D.

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linkedmore » form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.« less

Edaravone reduces astrogliosis and apoptosis in young rats with kaolin-induced hydrocephalus.

PubMed

Garcia, Camila Araújo Bernardino; Catalão, Carlos Henrique Rocha; Machado, Hélio Rubens; Júnior, Ivair Matias; Romeiro, Thais Helena; Peixoto-Santos, José Eduardo; Santos, Marcelo Volpon; da Silva Lopes, Luiza

2017-03-01

We investigated the possible neuroprotective effects of the free radical scavenger edaravone in experimental hydrocephalus. Seven-day-old Wistar rats were divided into three groups: control group (C), untreated hydrocephalic (H), and hydrocephalic treated with edaravone (EH). The H and EH groups were subjected to hydrocephalus induction by 20% kaolin intracisternal injection. The edaravone (20 mg/kg) was administered daily for 14 days from the induction of hydrocephalus. All animals were daily weighed and submitted to behavioral test and assessment by magnetic resonance imaging. After 14 days, the animals were sacrificed and the brain was removed for histological, immunohistochemical, and biochemical studies. The gain weight was similar between groups from the ninth post-induction day. The open field test performance of EH group was better (p < 0.05) as compared to untreated hydrocephalic animals. Hydrocephalic animals (H and EH) showed ventricular ratio values were higher (p < 0.05), whereas magnetization transfer values were lower (p < 0.05), as compared to control animals. Astrocyte activity (glial fibrillary acidic protein) and apoptotic cells (caspase-3) of EH group were decreased on the corpus callosum (p > 0.01), germinal matrix (p > 0.05), and cerebral cortex (p > 0.05), as compared to H group. We have demonstrated that administration of edaravone for 14 consecutive days after induction of hydrocephalus reduced astrocyte activity and that it has some beneficial effects over apoptotic cell death.

Cannabinoid receptor 2 activation restricts fibrosis and alleviates hydrocephalus after intraventricular hemorrhage.

PubMed

Tan, Qiang; Chen, Qianwei; Feng, Zhou; Shi, Xia; Tang, Jun; Tao, Yihao; Jiang, Bing; Tan, Liang; Feng, Hua; Zhu, Gang; Yang, Yunfeng; Chen, Zhi

2017-01-01

Fibrosis in ventricular system has a role in hydrocephalus following intraventricular hemorrhage (IVH). The cannabinoid receptor 2 (CB2) has been reported to participate in alleviating the fibrosis process of many diseases. However, its role in fibrosis after IVH was unclear so far, and we hypothesized that CB2 activation has potential to attenuate hydrocephalus after IVH via restricting fibrosis. So the present study was designed to investigate this hypothesis in a modified rat IVH model. Autologous non-anticoagulative blood injection model was induced to mimic ventricular extension of hemorrhage in adult Sprague-Dawley rats. Rats were randomized to receive JWH-133(CB2 agonist), SR144528 (CB2 antagonist) or saline. The lateral ventricular volumes, fibrosis in the subarachnoid space and ventricular wall, transforming growth factor-β 1(TGF-β1) in cerebrospinal fluid and brain tissue, and animal neurological scores were measured to evaluate the effects of CB2 in hydrocephalus following IVH. CB2 agonist JWH-133 significantly decreased the lateral ventricular volumes, improved the associated neurological deficits, down-regulated TGF-β1 expression, and alleviated fibrosis in the subarachnoid space and ventricular wall after IVH. All of these effects were reversed by SR144528. In conclusion, CB2 may have anti-fibrogenic effects after IVH. CB2 agonist suppressed fibrosis of ventricular system and alleviated hydrocephalus following IVH, which is partly mediated by inhibiting TGF-β1. Copyright © 2016 Elsevier B.V. All rights reserved.

Big heads in Port Moresby General Hospital: an audit of hydrocephalus cases seen from 2003 to 2004.

PubMed

Kaptigau, W Matui; Ke, Liu; Rosenfeld, J V

2007-01-01

Hydrocephalus is a common neurosurgical problem in Port Moresby General Hospital (PMGH) contributing to 27 (24%) of the 114 neurosurgical operations done in 2003 and 2004. During the same period it was responsible for 25% of the cases seen in the neurosurgery clinic. To prospectively audit and follow up hydrocephalus cases in PMGH over 2 years from January 2003 to December 2004 and ascertain the causes and the outcome of treatment. All cases of hydrocephalus seen in 2003 and 2004 were categorized according to cause. The associated findings on ultrasound scan or CT (computed tomography) scan when available were noted. The subsequent progress was documented with and without treatment for at least 6 months. 61 cases of hydrocephalus were seen for surgical opinion. The age ranged from 4 weeks to 56 years. The commonest age group affected was in the first year of life (61% of cases). There were 34 cases (56%) of congenital hydrocephalus followed by 19 (31%) post meningitis and 8 (13%) due to tumour. There was only one case of myelomeningocele with concomitant hydrocephalus. Ventriculoperitoneal (VP) shunts were inserted in 24 cases. 3 shunts were bypasses from the posterior horn to the cisterna magna, making a total of 27 shunt operations. 9 shunts were performed for post-meningitic hydrocephalus, 15 for congenital stenosis and 3 for a posterior fossa tumour. 24 out of the 27 shunt operations were in children aged <9 months. Post-VP-shunt infection of 2 cases reported within 6 weeks of operation gave an infection rate of 7%. There was cerebrospinal fluid (CSF) leak in 2 cases with Pundez-type shunts. There were 2 shunt blocks needing revision. Shunt operations can be done in PMGH with good outcomes. The decision-making about surgery can be made on the basis of the enlarging head and the ultrasound findings.

Syndrome of normal pressure hydrocephalus: possible relation to hypertensive and arteriosclerotic vasculopathy.

PubMed Central

Koto, A; Rosenberg, G; Zingesser, L H; Horoupian, D; Katzman, R

1977-01-01

A patient with clinical features of idiopathic normal pressure hydrocephalus, who responded dramatically to shunting, was found a necropsy to have a severe hypertensive and arteriosclerotic vasculopathy with multiple lacunar infarcts. There was no pathological evidence of thickened leptomeninges, fibrosis of the arachnoid villi, or Alzheimer's disease. An abnormal absorption mechanism was demonstrated with cisternography and by an increase in the concentration of homovanillic acid in the cerebrospinal fluid. It is suggested that vascular changes may play an important role in the pathophysiology in some cases of normal pressure hydrocephalus. Images PMID:845610

Acute Hydrocephalus as a Complication of Cervical Spine Fracture and Dislocation: A Case Report

PubMed Central

Chung, Yoon Young; Ju, Chang Il; Kim, Dong Min

2014-01-01

Hydrocephalus is a well-known complication of head injury, but an uncommon complication of a spinal lesion. Here, we present a rare case of acute obstructive hydrocephalus secondary to a cervical fracture and dislocation. A 60-year-old female patient was transferred to the emergency department with quadriplegia and respiratory difficulty. Imaging studies showed a cervical fracture and dislocation at the C3-4 level. She required intubation and mechanical ventilation. Twenty-four hours after admission, her mental status had deteriorated and both pupils were dilated. Computed tomography of the brain showed acute hydrocephalus; therefore, extraventricular drainage (EVD) was performed. After the EVD, her mental status recovered and she became alert, but she remained quadriplegic and dependent on the ventilator. Two months after injury, she died because of respiratory failure caused by pneumonia. PMID:25110487

Quality measures for the management of hydrocephalus: concepts, simulations, and preliminary field-testing.

PubMed

Barton, Spencer E; Campbell, Jeffrey W; Piatt, Joseph H

2013-04-01

The authors define and examine the properties of 2 new, practice-based quality measures for the management of hydrocephalus. The Surgical Activity Rate (SAR) is defined as the number of definitive operations for the treatment of hydrocephalus performed in a neurosurgical practice over the course of a year, divided by the number of patients with hydrocephalus seen in follow-up during that year. The Revision Quotient (RQ) is defined as the number of definitive revision operations performed in a neurosurgical practice in the course of a year, divided by the number of definitive initial operations during that year for patients with newly diagnosed hydrocephalus. Using published actuarial shunt survival data, the authors conducted Monte Carlo simulations of a pediatric neurosurgical practice to illustrate the properties and interpretations of the SAR and RQ. They used data from the Kids' Inpatient Database (KID) for 2009 to calculate RQs for hospitals accounting for more than 10 admissions coded for initial CSF shunt insertions. During the initial growth phase of a simulated neurosurgical practice, the SAR approached its steady-state value much earlier than the RQ. Both measures were sensitive to doubling or halving of monthly failure rates. In the 2009 KID, 117 hospitals reported more than 10 initial shunt insertions. The weighted mean (± standard deviation) RQ for these hospitals was 1.79 ± 0.69. Among hospitals performing 50 or more initial shunt insertions, the RQ ranged between 0.71 and 3.65. The SAR and RQ have attractive qualitative features as practice-based quality measures. The RQ, at least, exhibits clinically meaningful interhospital variation as applied to CSF shunt surgery. The SAR and RQ merit prospective field-testing as measures of quality in the management of childhood hydrocephalus.

Pulse pressure waveform in hydrocephalus: what it is and what it isn't.

PubMed

Czosnyka, Marek; Czosnyka, Zofia; Keong, Nicole; Lavinio, Andreas; Smielewski, Piotr; Momjian, Shahan; Schmidt, Eric A; Petrella, Gianpaolo; Owler, Brian; Pickard, John D

2007-04-15

Apart from its mean value, the pulse waveform of intracranial pressure (ICP) is an essential element of pressure recording. The authors reviewed their experience with the measurement and interpretation of ICP pulse amplitude by referring to a database of recordings in hydrocephalic patients. The database contained computerized pressure recordings from 2100 infusion studies (either lumbar or intraventricular) or overnight ICP monitoring sessions in patients suffering from hydrocephalus of various types (both communicating and noncommunicating), origins, and stages of management (shunt or no shunt). Amplitude was calculated from ICP waveforms by using a spectral analysis methodology. The appearance of a pulse waveform amplitude is positive evidence of a technically correct recording of ICP and helps to distinguish between postural and vasogenic variations in ICP. Pulse amplitude is significantly correlated with the amplitude of cerebral blood flow velocity (R = 0.4, p = 0.012) as assessed using Doppler ultrasonography. Amplitude is positively correlated with a mean ICP (R = 0.21 in idiopathic normal-pressure hydrocephalus [NPH]; number of cases 131; p < 0.01) and resistance to cerebrospinal fluid outflow (R = 0.22) but does not seem to be correlated with cerebrospinal elasticity, dilation of ventricles, or severity of hydrocephalus (NPH score). Amplitude increases slightly with age (R = 0.39, p < 0.01; number of cases 46). A positive association between pulse amplitude and increased ICP during an infusion study is helpful in distinguishing between hydrocephalus and predominant brain atrophy. A large amplitude is associated with a good outcome after shunting (positive predictive power 0.9), whereas a low amplitude has no predictive power in outcome prognostication (0.5). Pulse amplitude is reduced by a properly functioning shunt. Proper recording, detection, and interpretation of ICP pulse waveforms provide clinically useful information about patients suffering from

Dilation of the olfactory bulb cavity concurrent with hydrocephalus in four small breed dogs

PubMed Central

Kim, Jung-Hyun; Jeon, Hyo-Won; Woo, Eung-Je

2009-01-01

Four small breed dogs were admitted with seizures. Magnetic resonance imaging (MRI) of the brain revealed dilation of the olfactory bulb cavity as well as enlargement of the lateral ventricles. These findings demonstrate that dilation of the olfactory bulb cavity can occur concurrent with hydrocephalus. This is the first description of the clinical and MRI features of dilation of the olfactory bulb cavity concurrent with hydrocephalus in dogs. PMID:19461216

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

PubMed Central

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2015-01-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly—in the absence of hydrocephalus. PMID:26929876

The multifocal electroretinogram in X-linked juvenile retinoschisis.

PubMed

Huang, Shizhou; Wu, Dezheng; Jiang, Futian; Luo, Guangwei; Liang, Jiongji; Wen, Feng; Yu, Minzhong; Long, Shixian; Wu, Lezheng

2003-05-01

To measure and compare the multifocal electroretinography in normal control and X-linked juvenile retinoschisis, 13 cases (13 right eyes) of normal control and nine cases (17 eyes) of X-linked juvenile retinoschisis were measured with VERIS Science 4.0. Four cases (eight eyes) out of the nine retinoschisis cases were tested with Ganzfeld ERG at the same day. The results showed statistically significant difference of average response densities and latencies in six ring retinal regions between the normal control and retinoschisis. The trace array and 3-D topography of multifocal ERG showed multi-area amplitude decrease with absence or reduction of central peak amplitude in patients with retinoschisis. The P1/N1 ratio of multifocal ERG average response densities in six ring retinal regions was different from the b/a ratio of Ganzfeld ERG. The multifocal ERG and Ganzfeld ERG each had its advantage in the diagnosis of retinoschisis.

Hydrocephalus as a rare compilation of vertebrobasilar dolichoectasia: A case report and review of the literature.

PubMed

Ebrahimzadeh, Keveh; Bakhtevari, Mehrdad H; Shafizad, Misagh; Rezaei, Omidvar

2017-01-01

Vertebrobasilar dolichoectasia (VBD) is a rare disease characterized by significant expansion, elongation, and tortuosity of the vertebrobasilar arteries. Hydrocephalus is a rare compilation of VBD. In this study, we report a 68-year-old male presenting with headache, progressive decreased visual acuity, memory loss, imbalance while walking, and episodes of urinary incontinency. The patient was diagnosed with dolichoectasia of basilar artery causing compression of the third ventricular outflow and thus, presenting with hydrocephalus documented with brain computed tomography scan and brain magnetic resonance imaging. The patient underwent surgical operation and ventriculoperitoneal shunt placement. In the case of hydrocephalus or normal pressure hydrocephalous, VBD should be considered as a differential diagnosis.

Diffusion tensor imaging with direct cytopathological validation: characterisation of decorin treatment in experimental juvenile communicating hydrocephalus.

PubMed

Aojula, Anuriti; Botfield, Hannah; McAllister, James Patterson; Gonzalez, Ana Maria; Abdullah, Osama; Logan, Ann; Sinclair, Alexandra

2016-05-31

In an effort to develop novel treatments for communicating hydrocephalus, we have shown previously that the transforming growth factor-β antagonist, decorin, inhibits subarachnoid fibrosis mediated ventriculomegaly; however decorin's ability to prevent cerebral cytopathology in communicating hydrocephalus has not been fully examined. Furthermore, the capacity for diffusion tensor imaging to act as a proxy measure of cerebral pathology in multiple sclerosis and spinal cord injury has recently been demonstrated. However, the use of diffusion tensor imaging to investigate cytopathological changes in communicating hydrocephalus is yet to occur. Hence, this study aimed to determine whether decorin treatment influences alterations in diffusion tensor imaging parameters and cytopathology in experimental communicating hydrocephalus. Moreover, the study also explored whether diffusion tensor imaging parameters correlate with cellular pathology in communicating hydrocephalus. Accordingly, communicating hydrocephalus was induced by injecting kaolin into the basal cisterns in 3-week old rats followed immediately by 14 days of continuous intraventricular delivery of either human recombinant decorin (n = 5) or vehicle (n = 6). Four rats remained as intact controls and a further four rats served as kaolin only controls. At 14-days post-kaolin, just prior to sacrifice, routine magnetic resonance imaging and magnetic resonance diffusion tensor imaging was conducted and the mean diffusivity, fractional anisotropy, radial and axial diffusivity of seven cerebral regions were assessed by voxel-based analysis in the corpus callosum, periventricular white matter, caudal internal capsule, CA1 hippocampus, and outer and inner parietal cortex. Myelin integrity, gliosis and aquaporin-4 levels were evaluated by post-mortem immunohistochemistry in the CA3 hippocampus and in the caudal brain of the same cerebral structures analysed by diffusion tensor imaging. Decorin significantly

Pulse amplitude of intracranial pressure waveform in hydrocephalus.

PubMed

Czosnyka, Z; Keong, N; Kim, D J; Radolovich, D; Smielewski, P; Lavinio, A; Schmidt, E A; Momjian, S; Owler, B; Pickard, J D; Czosnyka, M

2008-01-01

There is increasing interest in evaluation of the pulse amplitude of intracranial pressure (AMP) in explaining dynamic aspects of hydrocephalus. We reviewed a large number of ICP recordings in a group of hydrocephalic patients to assess utility of AMP. From a database including approximately 2,100 cases of infusion studies (either lumbar or intraventricular) and overnight ICP monitoring in patients suffering from hydrocephalus of various types (both communicating and non-communicating), etiology and stage of management (non-shunted or shunted) pressure recordings were evaluated. For subgroup analysis we selected 60 patients with idiopathic NPH with full follow-up after shunting. In 29 patients we compared pulse amplitude during an infusion study performed before and after shunting with a properly functioning shunt. Amplitude was calculated from ICP waveforms using spectral analysis methodology. A large amplitude was associated with good outcome after shunting (positive predictive value of clinical improvement for AMP above 2.5 mmHg was 95%). However, low amplitude did not predict poor outcome (for AMP below 2.5 mmHg 52% of patients improved). Correlations of AMP with ICP and Rcsf were positive and statistically significant (N = 131 with idiopathic NPH; R = 0.21 for correlation with mean ICP and 0.22 with Rcsf; p< 0.01). Correlation with the brain elastance coefficient (or PVI) was not significant. There was also no significant correlation between pulse amplitude and width of the ventricles. The pulse amplitude decreased (p < 0.005) after shunting. Interpretation of the ICP pulse waveform may be clinically useful in patients suffering from hydrocephalus. Elevated amplitude seems to be a positive predictor for clinical improvement after shunting. A properly functioning shunt reduces the pulse amplitude.

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

PubMed Central

Xiao, Yangyan; Liu, Xiao; Tang, Luosheng; Wang, Xia; Coursy, Terry; Guo, Xiaojian; Li, Zhuo

2016-01-01

X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children. PMID:26823236

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.

PubMed

Xiao, Yangyan; Liu, Xiao; Tang, Luosheng; Wang, Xia; Coursey, Terry G; Coursy, Terry; Guo, Xiaojian; Li, Zhuo

2016-01-29

X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

Obstructive hydrocephalus as a result of giant cell tumor of the thoracic spine: A case report

PubMed Central

WEI, CHENG-YU; CHEN, SHUO-TSUNG; TAI, HSU-CHIH; WANG, WEN-BING; CHANG, CHI-CHU; WANG, YAO-CHIN; WEI, LI; KUNG, WOON-MAN

2016-01-01

Giant cell tumors (GCTs) are rare bone tumors that account for ~5% of all primary bone tumors. When GCTs occur in the spine, patients usually present with localized pain and neurological symptoms, such as radiating pain or hyperesthesia. In the current report, an unusual case of a GCT of the thoracic spine associated with hydrocephalus is described. A 48-year-old male presented with urinary retention, loss of sensation in the lower limbs and inability to walk. The patient eventually developed hydrocephalus combined with altered consciousness, indicated by an inability to follow simple commands. Magnetic resonance (MR) imaging demonstrated the presence of a soft tissue mass at the T2 level, and biopsy examination of the tissue confirmed that it was a GCT. The patient experienced a sudden loss of consciousness due to an acute episode of obstructive hydrocephalus. A ventriculoperitoneal shunting procedure was performed to treat the hydrocephalus, and the patient regained normal consciousness, although the paraplegia persisted. An MR examination performed 30 months following surgery demonstrated that the tumor size was stable, consistent with the slow growth that is characteristic of GCTs. Diagnosis of GCTs may be challenging, and relies on radiographic and histopathologic findings. Although rare, acute hydrocephalus as a result of GCTs should not be excluded from a differential diagnosis. PMID:26870164

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

PubMed

Lourenço, Charles Marques; Simão, Gustavo Novelino; Santos, Antonio Carlos; Marques, Wilson

2012-07-01

X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

Endoscopic Third Ventriculostomy for the Treatment of Hydrocephalus in a Pediatric Population with Myelomeningocele.

PubMed

Rei, Joana; Pereira, Josué; Reis, Carina; Salvador, Sérgio; Vaz, Rui

2017-09-01

Hydrocephalus develops in up to 90% of patients born with myelomeningocele. Although endoscopic third ventriculostomy (ETV) is currently considered the preferred treatment for obstructive hydrocephalus, its results have been inconsistent in patients with myelomeningocele. This study focuses on clinical and radiologic outcomes of ETV in children with hydrocephalus related to myelomeningocele. Medical records of 18 pediatric patients with myelomeningocele treated with ETV from 1998 to 2015 at the Centro Hospitalar São João (Porto, Portugal) were reviewed retrospectively. Patients' caregivers were contacted to evaluate their clinical manifestations before and after surgery regarding signs and symptoms of hydrocephalus and Chiari malformation. Control neuroradiologic imaging of 9 patients was obtained and analyzed. Success of ETV was defined by clinical resolution and radiologic confirmation. ETV was successful in 8 of 18 cases (44.4%). Groups of patients were compared according to age at the time of surgery, with a 40% (2/5) success rate in newborns and a 50% success rate (3/6) in children older than 1 year. Eight patients underwent ETV as a first option, with a 37.5% success rate. Ten patients underwent the procedure after previous ventriculoperitoneal shunt (VPS), 5 for malfunction and 5 for VPS infection with 60% and 40% success rates, respectively. Early postoperative complications occurred in 2 patients. ETV can be performed in patients with myelomeningocele and hydrocephalus with success rates of almost 50%. Prior VPS or VPS malfunction or infection do not contraindicate ETV. If possible, the procedure should be delayed until the patient is at least 1 month old. Copyright © 2017 Elsevier Inc. All rights reserved.

Management of Dandy-Walker complex-associated infant hydrocephalus by combined endoscopic third ventriculostomy and choroid plexus cauterization.

PubMed

Warf, Benjamin C; Dewan, Michael; Mugamba, John

2011-10-01

Dandy-Walker complex (DWC) is a continuum of congenital anomalies comprising Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV), Blake pouch cyst, and mega cisterna magna (MCM). Hydrocephalus is variably associated with each of these, and DWC-associated hydrocephalus has mostly been treated by shunting, often with 2-compartment shunting. There are few reports of management by endoscopic third ventriculostomy (ETV). This study is the largest series of DWC or DWM-associated hydrocephalus treated by ETV, and the first report of treatment by combined ETV and choroid plexus cauterization (ETV/CPC) in young infants with this association. A retrospective review of the CURE Children's Hospital of Uganda clinical database between 2004 and 2010 identified 45 patients with DWC confirmed by CT scanning (25 with DWM, 17 with DWV, and 3 with MCM) who were treated for hydrocephalus by ETV/CPC. Three were excluded because of other potential causes of hydrocephalus (2 postinfectious and 1 posthemorrhagic). The median age at treatment was 5 months (88% of patients were younger than 12 months). There was a 2.4:1 male predominance among patients with DWV. An ETV/CPC (ETV only in one) was successful with no further operations in 74% (mean and median follow-up 24.2 and 20 months, respectively [range 6-65 months]). The rate of success was 74% for DWM, 73% for DWV, and 100% for MCM; 95% had an open aqueduct, and none required posterior fossa shunting. Endoscopic treatment of DWC-associated hydrocephalus should be strongly considered as the primary management in place of the historical standard of creating shunt dependence.

William Watson Cheyne (1852-1932): a life in medicine and his innovative surgical treatment of congenital hydrocephalus.

PubMed

Watson, Caroline C; Griessenauer, Christoph J; Loukas, Marios; Blount, Jeffrey P; Tubbs, R Shane

2013-11-01

William Watson Cheyne lived and trained during a period of great advances in medical knowledge and surgical techniques. Despite his various contributions to the fields of bacteriology and surgery, little is known about his career or his life apart from his affiliations with Joseph Lister. This article aims to identify Cheyne as a pioneer in the treatment of congenital hydrocephalus and sheds light on the man who existed in Lister's shadow for most of his life. Cheyne's technique for surgical intervention of hydrocephalus was a great turning point and contributes to the current treatment strategy utilized today for hydrocephalus.

Efficacy and safety of programmable shunt valves for hydrocephalus: A meta-analysis.

PubMed

Li, Min; Wang, Han; Ouyang, Yetong; Yin, Min; Yin, Xiaoping

2017-08-01

Shunt implantation is an option in the treatment of hydrocephalus. However, the benefits and adverse effects of programmable shunt valves have not been well assessed. Randomized controlled trials (RCTs) and observational studies assessing the efficacy and safety of programmable valves (PV) treatment for hydrocephalus were identified from electronic databases (PubMed, EMBASE, and Cochrane library). The meta-analysis was performed with the fixed-effect model or random-effect model according to heterogeneity. Three RCTs and eight observational studies met the inclusion criteria including 2622 subjects. Compared with non-PV, PV treatment did not have a statistically significant effect on one-year shunt survival rate [relative risk (RR), 1.06; 95% confidence interval (CI), 0.84-1.35], Substantial heterogeneity was observed between studies (P = 0.09; I 2  = 65%). PV administration significantly reduced revision rate (RR, 0.56; 95% CI, 0.45-0.69; I 2  = 29%; P = 0.23) and over- or under-drainage complications rate (RR, 0.55; 95% CI, 0.32-0.96). PV was not associated with increased rates of other adverse events, including overall complications rate, infection rate and catheter-related complications rate. PV treatment is safe and may reduce the revision rate and over- or under-drainage complication rate, especially in patients aged less than 18 years with hydrocephalus. PV treatment is not associated with decreased overall complication rates in patients with hydrocephalus, but the trial sequential analysis indicate more studies are needed to confirm this result. Copyright © 2017. Published by Elsevier Ltd.

Numerical simulation of cerebrospinal fluid hydrodynamics in the healing process of hydrocephalus patients

NASA Astrophysics Data System (ADS)

Gholampour, S.; Fatouraee, N.; Seddighi, A. S.; Seddighi, A.

2017-05-01

Three-dimensional computational models of the cerebrospinal fluid (CSF) flow and brain tissue are presented for evaluation of their hydrodynamic conditions before and after shunting for seven patients with non-communicating hydrocephalus. One healthy subject is also modeled to compare deviated patients data to normal conditions. The fluid-solid interaction simulation shows the CSF mean pressure and pressure amplitude (the superior index for evaluation of non-communicating hydrocephalus) in patients at a greater point than those in the healthy subject by 5.3 and 2 times, respectively.

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

PubMed

Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

2013-06-01

Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

Hydrocephalus as a rare compilation of vertebrobasilar dolichoectasia: A case report and review of the literature

PubMed Central

Ebrahimzadeh, Keveh; Bakhtevari, Mehrdad H.; Shafizad, Misagh; Rezaei, Omidvar

2017-01-01

Background: Vertebrobasilar dolichoectasia (VBD) is a rare disease characterized by significant expansion, elongation, and tortuosity of the vertebrobasilar arteries. Hydrocephalus is a rare compilation of VBD. Case Description: In this study, we report a 68-year-old male presenting with headache, progressive decreased visual acuity, memory loss, imbalance while walking, and episodes of urinary incontinency. The patient was diagnosed with dolichoectasia of basilar artery causing compression of the third ventricular outflow and thus, presenting with hydrocephalus documented with brain computed tomography scan and brain magnetic resonance imaging. The patient underwent surgical operation and ventriculoperitoneal shunt placement. Conclusion: In the case of hydrocephalus or normal pressure hydrocephalous, VBD should be considered as a differential diagnosis. PMID:29184707

Neovascular glaucoma in a patient with X-linked juvenile retinoschisis.

PubMed

Zuo, Chengguo; Chen, Changzheng; Xing, Yiqiao; Du, Lei

2005-09-01

To report the rubeosis iridis and neovascular glaucoma findings in one patient of X-linked juvenile retinoschisis(XLRS). Color fundus photography, fluorescein angiography (FFA), OCT and B-scan were performed in a patient with X-linked juvenile retinoschisis complicated with neovascular glaucoma. Color fundus photography, fluorescein angiography (FFA), OCT and B-scan unveiled a rare condition of XLRS complicated with neovascular glaucoma. XLRS may complicate with neovascular glaucoma. It is necessary to test OCT, FFA, ERG and carefully examine the fundus of the follow eye when it comes to uncertain neovascular glaucoma of youth and child. And only in this way, can we exclude XLRS.

Trends in hospitalization of preterm infants with intraventricular hemorrhage and hydrocephalus in the United States, 2000-2010.

PubMed

Christian, Eisha A; Jin, Diana L; Attenello, Frank; Wen, Timothy; Cen, Steven; Mack, William J; Krieger, Mark D; McComb, J Gordon

2016-03-01

OBJECT Even with improved prenatal and neonatal care, intraventricular hemorrhage (IVH) occurs in approximately 25%-30% of preterm infants, with a subset of these patients developing hydrocephalus. This study was undertaken to describe current trends in hospitalization of preterm infants with posthemorrhagic hydrocephalus (PHH) using the Nationwide Inpatient Sample (NIS) and the Kids' Inpatient Database (KID). METHODS The KID and NIS were combined to generate data for the years 2000-2010. All neonatal discharges with ICD-9-CM codes for preterm birth with IVH alone or with IVH and hydrocephalus were included. RESULTS There were 147,823 preterm neonates with IVH, and 9% of this group developed hydrocephalus during the same admission. Of patients with Grade 3 and 4 IVH, 25% and 28%, respectively, developed hydrocephalus in comparison with 1% and 4% of patients with Grade 1 and 2 IVH, respectively. Thirty-eight percent of patients with PHH had permanent ventricular shunts inserted. Mortality rates were 4%, 10%, 18%, and 40%, respectively, for Grade 1, 2, 3, and 4 IVH during initial hospitalization. Length of stay has been trending upward for both groups of IVH (49 days in 2000, 56 days in 2010) and PHH (59 days in 2000, 70 days in 2010). The average hospital cost per patient (adjusted for inflation) has also increased, from $201,578 to $353,554 (for IVH) and $260,077 to $495,697 (for PHH) over 11 years. CONCLUSIONS The number of neonates admitted with IVH has increased despite a decrease in the number of preterm births. Rates of hydrocephalus and mortality correlated closely with IVH grade. The incidence of hydrocephalus in preterm infants with IVH remained stable between 8% and 10%. Over an 11-year period, there was a progressive increase in hospital cost and length of stay for preterm neonates with IVH and PHH that may be explained by a concurrent increase in the proportion of patients with congenital cardiac anomalies.

Complication during Postacute Rehabilitation: Patients with Posttraumatic Hydrocephalus

ERIC Educational Resources Information Center

Denes, Zoltan; Barsi, Peter; Szel, Istvan; Boros, Erzsebet; Fazekas, Gabor

2011-01-01

The objective of this study was to determine the incidence of posttraumatic hydrocephalus (PTH) among patients in our rehabilitation unit for traumatic brain injury. Furthermore, we aimed to assess the effect of shunt implantation and to identify the postoperative complication rate. This is a retrospective cohort study, in which between 2000 and…

Genotypic analysis of X-linked retinoschisis in Western Australia.

PubMed

Lamey, Tina; Laurin, Sarina; Chelva, Enid; De Roach, John

2010-01-01

X-linked Retinoschisis is a leading cause of juvenile macular degeneration. Four Western Australian families affected by X-Linked Retinoschisis were analysed using DNA and clinical information from the Australian Inherited Retinal Disease (IRD) Register and DNA Bank. By direct sequencing of the RS1 gene, three genetic variants were identified; 52+1G > T, 289T > G and 416delA. 289T > G has not been previously reported and is likely to cause a substitution of a membrane binding residue (W92G) in the functional discoidin domain. All clinically diagnosed individuals showed typical electronegative ERGs. The 52+1G > T obligate carrier also recorded a bilaterally abnormal rod ERG and mildly abnormal photopic responses. mfERG trace arrays showed reduced response densities in the paramacular region extending futher temporally for each eye.

[Economic hardship and fallout on households of the management of hydrocephalus in Benin].

PubMed

Gandaho, Hugues Jean-Thierry; Hounton, Sennen Houesse; Kelani, Amina; Darga, Christian; Hoinsou-Hans, Isaac; Agbani, Florence; Lalya, Francis; Koumakpayi, Sikiratou; Ayivi, Blaise

2017-04-27

Objectives: The socioeconomic profile of households and families of children attending hospital for hydrocephalus were documented and analysed. Main costs related to diagnosis and care were reviewed. The emotional fallout and social well-being of families were also analysed. Methods: This retrospective cross-sectional study (January 2006 to January 2015) was based on costs borne by households and families for neurosurgical care of children with hydrocephalus. Results: Sixty children (1 day to 12 years old) had been hospitalized for hydrocephalus in Cotonou-Benin. In 19 cases, the families were single-parent families. In 44 cases, the parents were self-employed workers or private company employees. Public servants, eligible for national health system assistance, accounted for a mere 16 cases. Twenty six children did not receive any financial support, whereas the total average care-related out-of-pocket expenditure for families during the hospital stay was approximately €1,777 (1,117,500 FCFA), i.e. almost 14 times the average monthly income reported by the parents (82,600 FCFA – approximately €120). After hospitalization, 31 mothers had lost their jobs and 21 couples experienced marital issues and their plans to have children. Twelve recent separations were recorded, as well as one indirect maternal death related to depression. Conclusion: In Benin Republic, surgical care for paediatric hydrocephalus represents catastrophic out-of-pocket expenditures for households and families and other living expenses. Families experience significant emotional fallout with effects on couple relationships and survival.

Endoscopic third ventriculostomy for treatment of adult hydrocephalus: long-term follow-up of 163 patients.

PubMed

Isaacs, Albert M; Bezchlibnyk, Yarema B; Yong, Heather; Koshy, Dilip; Urbaneja, Geberth; Hader, Walter J; Hamilton, Mark G

2016-09-01

OBJECTIVE The efficacy of endoscopic third ventriculostomy (ETV) for the treatment of pediatric hydrocephalus has been extensively reported in the literature. However, ETV-related long-term outcome data are lacking for the adult hydrocephalus population. The objective of the present study was to assess the role of ETV as a primary or secondary treatment for hydrocephalus in adults. METHODS The authors performed a retrospective chart review of all adult patients (age ≥ 18 years) with symptomatic hydrocephalus treated with ETV in Calgary, Canada, over a span of 20 years (1994-2014). Patients were dichotomized into a primary or secondary ETV cohort based on whether ETV was the initial treatment modality for the hydrocephalus or if other CSF diversion procedures had been previously attempted respectively. Primary outcomes were subjective patient-reported clinical improvement within 12 weeks of surgery and the need for any CSF diversion procedures after the initial ETV during the span of the study. Categorical and actuarial data analysis was done to compare the outcomes of the primary versus secondary ETV cohorts. RESULTS A total of 163 adult patients with symptomatic hydrocephalus treated with ETV were identified and followed over an average of 98.6 months (range 0.1-230.4 months). All patients presented with signs of intracranial hypertension or other neurological symptoms. The primary ETV group consisted of 112 patients, and the secondary ETV consisted of 51 patients who presented with failed ventriculoperitoneal (VP) shunts. After the initial ETV procedure, clinical improvement was reported more frequently by patients in the primary cohort (87%) relative to those in the secondary ETV cohort (65%, p = 0.001). Additionally, patients in the primary ETV group required fewer reoperations (p < 0.001), with cumulative ETV survival time favoring this primary ETV cohort over the course of the follow-up period (p < 0.001). Fifteen patients required repeat ETV, with all but

Pyoderma Gangrenosum–Like Ulcer in a Patient With X-Linked Agammaglobulinemia

PubMed Central

Murray, Patrick R.; Jain, Ashish; Uzel, Gulbu; Ranken, Raymond; Ivy, Cristina; Blyn, Lawrence B.; Ecker, David J.; Sampath, Rangarajan; Lee, Chyi-Chia Richard; Turner, Maria L.

2011-01-01

Background Pyoderma gangrenosum–like ulcers and cellulitis of the lower extremities associated with recurrent fevers in patients with X-linked (Bruton) agammaglobulinemia have been reported to be caused by Helicobacter bilis (formerly classified as Flexispira rappini and then Helicobacter strain flexispira taxon 8). Consistent themes in these reports are the difficulty in recovering this organism in blood and wound cultures and in maintaining isolates in vitro. We confirmed the presence of this organism in a patient’s culture by using a novel application of gene amplification polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry. Observation An adolescent boy with X-linked agammaglobulinemia presented with indurated plaques and a chronic leg ulcer whose origin was strongly suspected to be an H bilis organism. Histologic analysis demonstrated positive Warthin-Starry staining of curvilinear rods, which grew in culture but failed to grow when sub-cultured. They could not be identified by conventional techniques. A combination of gene amplification by polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry confirmed the identity of this organism. Conclusions This novel technology was useful in the identification of a difficult-to-grow Helicobacter organism, the cause of pyoderma gangrenosum–like leg ulcers in patients with X-linked agammaglobulinemia. Correct identification of this organism as the cause of pyoderma gangrenosum–like ulcers in patients with X-linked agammaglobulinemia is of great importance for the early initiation of appropriate and curative antibiotic therapy. PMID:20479300

Transcription map of Xq27: candidates for several X-linked diseases.

PubMed

Zucchi, I; Jones, J; Affer, M; Montagna, C; Redolfi, E; Susani, L; Vezzoni, P; Parvari, R; Schlessinger, D; Whyte, M P; Mumm, S

1999-04-15

Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify genes: (1) a group of 64 unique STSs that were generated during the physical mapping of the region were used in RT-PCR with RNA from human adult and fetal brain and (2) ESTs that have been broadly mapped to this region of the chromosome were finely mapped using a high-resolution yeast artificial chromosome contig. This combined approach identified four distinct regions of transcriptional activity within the Xq27 band. Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive hypoparathyroidism, thoracoabdominal syndrome, albinism-deafness syndrome, and Borjeson-Forssman-Lehman syndrome). Two transcriptionally active regions were identified in the center of Xq27 and include candidate regions for X-linked mental retardation syndrome 6, X-linked progressive cone dystrophy, X-linked retinitis pigmentosa 24, and a prostate cancer susceptibility locus. The fourth region of transcriptional activity encompasses the FMR1 (FRAXA) and FMR2 (FRAXE) genes. The analysis thus suggests clustered transcription in Xq27 and provides candidates for several heritable disorders for which the causative genes have not yet been found. Copyright 1999 Academic Press.

Normal pressure hydrocephalus in patients with myelomeningocele.

PubMed

Hammock, M K; Milhorat, T H; Baron, I S

1976-01-01

Although the syndrome of normal pressure hydrocephalus (NPH) was described in the adult as early as 1964, it has only recently been recognized in the child. In this preliminary report, eight myelomeningocele patients with presumed NPH were evaluated before and after ventricular shunting procedures. Cranial computed tomography and serial psychological testing have proved to be particularly valuable both in the pre-operative and post-operative assessment of these patients and have the distinct advantage of being simple, non-invasive diagnostic measures. Continuous intra-ventricular pressure monitoring has shown what promises to be characteristic elevated pressure plateaux imposed on normal baseline cerebrospinal fluid (CSF) pressures in so-called NPH but is a more difficult clinical procedure, necessarily associated with potential complications. Although decreasing response to growth-stimulating hormone can be demonstrated in patients with long-standing hydrocephalus, this endocrine malfunction cannot be considered an early indicator of intracranial pathology. Single IQ scores are inadequate measures of intellectural function in children with NPH and serial examinations should be carried out. Detailed neuropsychological testing will document performance IQ scores well below verbal IQ scores and will generally show failure of psychomotor development to keep pace with chronological ageing. Initial studies indicate that improved performance scores can be expected within 1 1/2 to 3 months following successful ventricular shunting operations, and that any downward trend in pre-operative test scoring can at least be reversed. Statistically significant improvements in full-scale IQ scores have not been seen, however, before the end of the first post-operative year. Clinically, improved attentiveness and sociability, and decreased spasticity (if present prior to surgery) can be expected following shunting. Over-all, ventriculomegaly, normal CSF pressure, stable head size

Surgical management of idiopathic normal-pressure hydrocephalus.

PubMed

Bergsneider, Marvin; Black, Peter McL; Klinge, Petra; Marmarou, Anthony; Relkin, Norman

2005-09-01

To develop evidence-based guidelines for surgical management of idiopathic normal-pressure hydrocephalus (INPH). Compared with the diagnostic phase, the surgical management of INPH has received less scientific attention. The quality of much of the literature concerning the surgical management has been limited by many factors. These include retrospective analysis, small patient numbers, analysis of a mixed NPH population, and sometimes a lack of detail as to what type of shunt system was used. Many earlier studies predated our current understanding of the hydrodynamics of cerebrospinal fluid shunts, and therefore, the conclusions drawn may no longer be valid. A MEDLINE and PubMed search from 1966 to the present was conducted using the following key terms: normal-pressure hydrocephalus and idiopathic adult-onset hydrocephalus. Only English-language literature in peer-reviewed journals was reviewed. The search was further limited to articles that described the method of treatment and outcome selectively for INPH patients. Finally, only studies that included 20 or more INPH patients were considered with respect to formulating the recommendations in these Guidelines (27 articles). For practical reasons, it is important to identify probable shunt responders diagnosed with INPH. If the patient is an acceptable candidate for anesthesia, then an INPH-specific risk-benefit analysis should be determined. In general, patients exhibiting negligible symptoms may not be suitable candidates for surgical management, given the known risks and complications associated with shunting INPH. The choice of valve type and setting should be based on empirical reasoning and a basic understanding of shunt hydrodynamics. The most conservative choice is a valve incorporating an antisiphon device, with the understanding that underdrainage (despite a low opening pressure) may occur in a small percentage of patients because of the antisiphon device. On the basis of retrospective studies, the use

Account of Haly Abbas regarding the management of hydrocephalus in children: a text from medieval times.

PubMed

Aciduman, Ahmet; Arda, Berna; Aşkit, Cağatay; Belen, Deniz; Tuzcu, Kemal

2014-12-01

To present the text on hydrocephalus from Haly Abbas's book Kitāb al-Malikī / Liber Regius (The Royal Book), which was accepted as a classical textbook in the Eastern and Western worlds for a long time. The Arabic (Süleymaniye Manuscript Library, Murad Molla Collection, Nr: 1482 and Būlāḳ, 1294 /1877) and the Latin (Venice, 1492) versions of the related chapter was translated and compared to create an English text. Additionally, relevant literature was reviewed in detail. The text on hydrocephalus in Haly Abbas's The Royal Book virtually resembles Paul of Aegina's work. For hydrocephalic cases where the fluid collects between skin and pericranium, and pericranium and bone, Haly Abbas had made little change in surgical intervention; for the third type, skin incision, he preferred a T-type incision instead of an H-type. Like Paul of Aegina, Haly Abbas also did not advise any surgical intervention for the cases of hydrocephalus, where fluid accumulation is between bone and the dura mater. Haly Abbas's approach to hydrocephalus was as brave as that of his predecessors Antyllus, Oribasius, and Paulus, although the cases they dealt with were almost all cephalic hematomas. Although his chapter on the treatment of water accumulation in the head contains surgical interventions in extracranial hydrocephalic conditions, his account on hydrocephalus is extremely precise and gives adequate detail as in other chapters in his book. Copyright © 2014 Elsevier Inc. All rights reserved.

Evaluating the effect of hydrocephalus cause on the manner of changes in the effective parameters and clinical symptoms of the disease.

PubMed

Gholampour, Seifollah; Fatouraee, Nasser; Seddighi, Amir Saeed; Seddighi, Afsoun

2017-01-01

In the present study, the heads of 11 normal subjects and 21 patients affected by hydrocephalus due to three different causes were simulated using fluid-structure interaction (FSI). To validate the results, the calculated diagram of CSF velocity in aqueduct of Sylvius (AS) was compared with the similar velocity diagram measured using Cine PC-MRI for the same subject. After ensuring the agreement of results, other outputs such as CSF pressure were calculated non-invasively using FSI. The intracranial pressure and CSF pressure in AS and behind the optic nerve sheath were in patients 5-5.3 times the value in normal subjects and the ventricular system volume in patients was 10.2-11.1 times the value in normal subjects. However, the difference between the coefficient of variation and the maximum value of pressure and volume in different types of hydrocephalus was small. Furthermore, the difference between CSF stroke volumes in various types of hydrocephalus patients was less than 4.4%. Results showed that the intensity of clinical symptoms was similar in patients with similar CSF pressure and the cause of the hydrocephalus disease didn't have any significant effect on the intensity of patients' clinical symptoms and the manner of changes in effective parameters on disease. It was also found that the relation of CSF pressure and volume was 16.7% greater in patients with non-communicating hydrocephalus than in patients with communicating hydrocephalus. These results enhance the insight into hydrocephalus bio-mechanism and can help to choose the proper treatment method for hydrocephalus patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.

PubMed

Jonsson, Kenneth B; Zahradnik, Richard; Larsson, Tobias; White, Kenneth E; Sugimoto, Toshitsugu; Imanishi, Yasuo; Yamamoto, Takehisa; Hampson, Geeta; Koshiyama, Hiroyuki; Ljunggren, Osten; Oba, Koichi; Yang, In Myung; Miyauchi, Akimitsu; Econs, Michael J; Lavigne, Jeffrey; Jüppner, Harald

2003-04-24

Mutations in fibroblast growth factor 23 (FGF-23) cause autosomal dominant hypophosphatemic rickets. Clinical and laboratory findings in this disorder are similar to those in oncogenic osteomalacia, in which tumors abundantly express FGF-23 messenger RNA, and to those in X-linked hypophosphatemia, which is caused by inactivating mutations in a phosphate-regulating endopeptidase called PHEX. Recombinant FGF-23 induces phosphaturia and hypophosphatemia in vivo, suggesting that it has a role in phosphate regulation. To determine whether FGF-23 circulates in healthy persons and whether it is elevated in those with oncogenic osteomalacia or X-linked hypophosphatemia, an immunometric assay was developed to measure it. Using affinity-purified, polyclonal antibodies against [Tyr223]FGF-23(206-222)amide and [Tyr224]FGF-23(225-244)amide, we developed a two-site enzyme-linked immunosorbent assay that detects equivalently recombinant human FGF-23, the mutant form in which glutamine is substituted for arginine at position 179 (R179Q), and synthetic human FGF-23(207-244)amide. Plasma or serum samples from 147 healthy adults (mean [+/-SD] age, 48.4+/-19.6 years) and 26 healthy children (mean age, 10.9+/-5.5 years) and from 17 patients with oncogenic osteomalacia (mean age, 43.0+/-13.3 years) and 21 patients with X-linked hypophosphatemia (mean age, 34.9+/-17.2 years) were studied. Mean FGF-23 concentrations in the healthy adults and children were 55+/-50 and 69+/-36 reference units (RU) per milliliter, respectively. Four patients with oncogenic osteomalacia had concentrations ranging from 426 to 7970 RU per milliliter, which normalized after tumor resection. FGF-23 concentrations were 481+/-528 RU per milliliter in those with suspected oncogenic osteomalacia and 353+/-510 RU per milliliter (range, 31 to 2335) in those with X-linked hypophosphatemia. FGF-23 is readily detectable in the plasma or serum of healthy persons and can be markedly elevated in those with oncogenic

Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis.

PubMed

Dodds, Jodi A; Srivastava, Anand K; Holden, Kenton R

2006-04-01

X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C-->T substitution in exon 4 of the XLRS1 gene, resulting in an Arg102Trp amino acid substitution. Two of the four available clinical cases in this family were found to carry the mutation. All available mothers of affected males were found to be unaffected carriers of the mutation, a typical feature of X-linked diseases. Two new female carriers, sisters of affected males, were identified and counseled accordingly. Questionnaires on visual functioning were given to the affected family members to examine the psychologic and sociologic impact of X-linked juvenile retinoschisis, which documented an associated stigma even when affected with a "mild" phenotype.

Expression pattern of X-linked genes in sex chromosome aneuploid bovine cells.

PubMed

Basrur, Parvathi K; Farazmand, Ali; Stranzinger, Gerald; Graphodatskaya, Daria; Reyes, Ed R; King, W Allan

2004-01-01

Expression of the X-inactive specific transcript (XIST) gene is a prerequisite step for dosage compensation in mammals, accomplished by silencing one of the two X chromosomes in normal female diploid cells or all X chromosomes in excess of one in sex chromosome aneuploids. Our previous studies showing that XIST expression does not eventuate the inactivation of X-linked genes in fetal bovine testis had suggested that XIST expression may not be an indicator of X inactivation in this species. In this study, we used a semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) approach on cultures of bovine cells with varying sex chromosome constitution (XY, XX, XXY and XXX) to test whether the levels of XIST expressed conform to the number of late replicating (inactive) X chromosomes displayed by proliferating cells in these cultures. Expression patterns of four X-linked genes, including hypoxanthine phosphorybosyl transferase (HPRT), glucose-6-phosphate dehydrogenase (G6PD), zinc finger protein locus on the X (ZFX). and 'selected mouse cDNA on the X' (SMCX), in all these cells were also tested. Results showed that XIST expression was significantly higher (p < 0.05) in XXX cells compared to XX and XXY cells and that G6PD. HPRT, and SMCX loci are subject to X inactivation. The significantly higher levels of ZFX expressed in XXX cells compared to XX and XXY cells (p < 0.05) confirmed that this bovine locus, as human ZFX, escapes X inactivation. However, the levels of XIST and ZFX expressed were not proportional to the X chromosome load in these cells suggesting that X-linked loci escaping inactivation may be regulated at transcription (or post-transcription) level by mechanisms that prevent gene-specific product accumulation beyond certain levels in sex chromosome aneuploids.

Blood-brain barrier and foetal-onset hydrocephalus, with a view on potential novel treatments beyond managing CSF flow.

PubMed

Guerra, M; Blázquez, J L; Rodríguez, E M

2017-07-13

Despite decades of research, no compelling non-surgical therapies have been developed for foetal hydrocephalus. So far, most efforts have pointed to repairing disturbances in the cerebrospinal fluid (CSF) flow and to avoid further brain damage. There are no reports trying to prevent or diminish abnormalities in brain development which are inseparably associated with hydrocephalus. A key problem in the treatment of hydrocephalus is the blood-brain barrier that restricts the access to the brain for therapeutic compounds or systemically grafted cells. Recent investigations have started to open an avenue for the development of a cell therapy for foetal-onset hydrocephalus. Potential cells to be used for brain grafting include: (1) pluripotential neural stem cells; (2) mesenchymal stem cells; (3) genetically-engineered stem cells; (4) choroid plexus cells and (5) subcommissural organ cells. Expected outcomes are a proper microenvironment for the embryonic neurogenic niche and, consequent normal brain development.

X-linked cardiomyopathy is heterogeneous

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wilson, M.J.; Sillence, D.O.; Mulley, J.C.

Two major loci of X-linked cardiomyopathy have been mapped by linkage analysis. The gene for X-linked dilated cardiomyopathy (XLCM) is mapped to the dystrophin locus at Xp21, while Barth syndrome has been localised to distal Xq28. XLCM usually presents in juvenile males with no skeletal disease but decreased dystrophin in cardiac muscle. Barth syndrome most often presents in infants and is characterized by skeletal myopathy, short stature and neutropenia in association with cardiomyopathy of variable severity. Prior to carrier or prenatal diagnosis in a family, delineation of the cardiomyopathy locus involved is essential. We report the linkage mapping of amore » large kindred in which several male infants have died with hypertrophic cardiomyopathy. There is a family history of unexplained death of infant males less than 6 months old over 4 generations. Features of Barth syndrome such as short stature, skeletal myopathy and neutropenia have not been observed. Genotyping at 10 marker loci in Xq28 has revealed significant pairwise lod scores with the cardiomyopathy phenotype at DXS52 (Z=2.21 at {theta}=0.0), at markers p26 and p39 near DXS15 (Z=2.30 at {theta}=0.0) and at F8C (Z=2.24 at {theta}=0.0). A recombinant detected with DXS296 defines the proximal limit to the localization. No recombinants were detected at any of the loci distal to DXS296. The most distal marker in Xq28, DXS1108, is within 500 kb of the telomere. As the gene in this family is localized to Xq28, it is possible that this disorder is an allelic variant at the Barth syndrome locus.« less

X-Linked Intellectual Disability: Unique Vulnerability of the Male Genome

ERIC Educational Resources Information Center

Stevenson, Roger E.; Schwartz, Charles E.

2009-01-01

X-linked intellectual disability (XLID) accounts for approximately 16% of males with intellectual disability (ID). This is, in part, related to the fact that males have a single X chromosome. Progress in the clinical and molecular characterization of XLID has outpaced progress in the delineation of ID due to genes on the other 22 chromosomes.…

Silencing of X-Linked MicroRNAs by Meiotic Sex Chromosome Inactivation

PubMed Central

Royo, Hélène; Seitz, Hervé; ElInati, Elias; Peters, Antoine H. F. M.; Stadler, Michael B.; Turner, James M. A.

2015-01-01

During the pachytene stage of meiosis in male mammals, the X and Y chromosomes are transcriptionally silenced by Meiotic Sex Chromosome Inactivation (MSCI). MSCI is conserved in therian mammals and is essential for normal male fertility. Transcriptomics approaches have demonstrated that in mice, most or all protein-coding genes on the X chromosome are subject to MSCI. However, it is unclear whether X-linked non-coding RNAs behave in a similar manner. The X chromosome is enriched in microRNA (miRNA) genes, with many exhibiting testis-biased expression. Importantly, high expression levels of X-linked miRNAs (X-miRNAs) have been reported in pachytene spermatocytes, indicating that these genes may escape MSCI, and perhaps play a role in the XY-silencing process. Here we use RNA FISH to examine X-miRNA expression in the male germ line. We find that, like protein-coding X-genes, X-miRNAs are expressed prior to prophase I and are thereafter silenced during pachynema. X-miRNA silencing does not occur in mouse models with defective MSCI. Furthermore, X-miRNAs are expressed at pachynema when present as autosomally integrated transgenes. Thus, we conclude that silencing of X-miRNAs during pachynema in wild type males is MSCI-dependent. Importantly, misexpression of X-miRNAs during pachynema causes spermatogenic defects. We propose that MSCI represents a chromosomal mechanism by which X-miRNAs, and other potential X-encoded repressors, can be silenced, thereby regulating genes with critical late spermatogenic functions. PMID:26509798

["Water Hammer effect": a rare mechanism of hydrocephalus].

PubMed

Hage, P; El Helou, A

2012-10-01

We are reporting a case of functional hydrocephalus in a 66-year-old male patient presenting for gait disturbance. The etiology of the disease is a cerebrospinal fluid flow disturbance due to an ectatic basilar artery at the level of Monro foramen. Different pathophysiological mechanisms are discussed below. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Clinical assessment of cerebrospinal fluid dynamics in hydrocephalus. Guide to interpretation based on observational study.

PubMed

Weerakkody, R A; Czosnyka, M; Schuhmann, M U; Schmidt, E; Keong, N; Santarius, T; Pickard, J D; Czosnyka, Z

2011-08-01

The term hydrocephalus encompasses a range of disorders characterised by clinical symptoms, abnormal brain imaging and derangement of cerebrospinal fluid (CSF) dynamics. The ability to elucidate which patients would benefit from CSF diversion (a shunt or third ventriculostomy) is often unclear. Similar difficulties are often encountered in shunted patients to predict the scope for improvement by shunt re-adjustment or revision. In this study we aimed to update our knowledge of how key quantitative parameters describing CSF dynamics may be used in diagnosis of shunt-responsive hydrocephalus and in the assessment of shunt function. A number of quantitative parameters [including resistance to CSF outflow (Rcsf), pulse amplitude of intracranial pressure waveform (AMP), RAP index and slow vasogenic waves] were studies in 1423 patients with 2665 CSF infusion tests and 305 overnight intracranial pressure (ICP)-monitoring sessions over a 17 year period. We demonstrate our observations for typical values of Pb, Rcsf, AMP, slow vasogenic waves derived from infusion studies or overnight ICP monitoring in differentiating atrophy from shunt-responsive normal pressure hydrocephalus or acute hydrocephalus. From the same variables tested on shunted patients we demonstrate a standardised approach to help differentiate a properly-functioning shunt from underdrainage or overdrainage. Quantitative variables derived from CSF dynamics allow differentiation between clinically overlapping entities such as shunt-responsive normal pressure hydrocephalus and brain atrophy (not shunt responsive) as well as allowing the detection of shunt malfunction (partial or complete blockage) or overdrainage. This observational study is intended to serve as an update for our understanding of quantitative testing of CSF dynamics. © 2011 John Wiley & Sons A/S.

Reduced subventricular zone proliferation and white matter damage in juvenile ferrets with kaolin-induced hydrocephalus.

PubMed

Di Curzio, Domenico L; Buist, Richard J; Del Bigio, Marc R

2013-10-01

Hydrocephalus is a neurological condition characterized by altered cerebrospinal fluid (CSF) flow with enlargement of ventricular cavities in the brain. A reliable model of hydrocephalus in gyrencephalic mammals is necessary to test preclinical hypotheses. Our objective was to characterize the behavioral, structural, and histological changes in juvenile ferrets following induction of hydrocephalus. Fourteen-day old ferrets were given an injection of kaolin (aluminum silicate) into the cisterna magna. Two days later and repeated weekly until 56 days of age, magnetic resonance (MR) imaging was used to assess ventricle size. Behavior was examined thrice weekly. Compared to age-matched saline-injected controls, severely hydrocephalic ferrets weighed significantly less, their postures were impaired, and they were hyperactive prior to extreme debilitation. They developed significant ventriculomegaly and displayed white matter destruction. Reactive astroglia and microglia detected by glial fibrillary acidic protein (GFAP) and Iba-1 immunostaining were apparent in white matter, cortex, and hippocampus. There was a hydrocephalus-related increase in activated caspase 3 labeling of apoptotic cells (7.0 vs. 15.5%) and a reduction in Ki67 labeling of proliferating cells (23.3 vs. 5.9%) in the subventricular zone (SVZ). Reduced Olig2 immunolabeling suggests a depletion of glial precursors. GFAP content was elevated. Myelin basic protein (MBP) quantitation and myelin biochemical enzyme activity showed early maturational increases. Where white matter was not destroyed, the remaining axons developed myelin similar to the controls. In conclusion, the hydrocephalus-induced periventricular disturbances may involve developmental impairments in cell proliferation and glial precursor cell populations. The ferret should prove useful for testing hypotheses about white matter damage and protection in the immature hydrocephalic brain. Copyright © 2013 Elsevier Inc. All rights reserved.

Hydrocephalus Caused by Fat Embolism: A Rare Complication of Atlanto-Axial Fixation for Odontoid Fractures.

PubMed

Wang, Chun-Hao; Chang, Peng-Yuan; Wu, Jau-Ching; Tu, Tsung-Hsi; Wu, Ching-Lan; Huang, Wen-Cheng; Cheng, Henrich

2016-06-01

Odontoid fracture is not uncommon and surgical treatment that uses posterior screw/rod fixation is an acceptable option. This is the first report of delayed hydrocephalus due to subarachnoid fat migration as a complication of posterior atlanto-axial (AA) fixation. A 27-year-old man underwent posterior C1 lateral mass and C2 pedicle screw fixation for a recent Anderson-D'Alonzo type 2 odontoid fracture. Autologous bone graft was wired for onlay fusion. The surgery was smooth, except that there was an incidental durotomy intraoperatively. The patient had significant relief of his neck pain, although computed tomography (CT) demonstrated a medial breach of the left C1 screw postoperation; however, he gradually developed headache and dizziness after discharge. Five weeks after operation, magnetic resonance imaging demonstrated a large pseudo-meningocele at the surgical site, which was managed conservatively. Nine weeks after the AA fixation, the patient was sent to the emergency department for altered consciousness. A brain CT demonstrated hydrocephalus and multiple fat emboli in the subarachnoid and intraventricular space. A ventriculoperitoneal shunt was inserted to manage the hydrocephalus and pseudo-meningocele. The patient recovered well and was followed up to 13 months after operation. To date, this was the first report of delayed hydrocephalus caused by fat embolism after AA fixation surgery. Incidental durotomy in posterior AA fixation may predispose the patient to a serious complication of fat-cerebrospinal fluid embolism and subsequent hydrocephalus. There should be a heightened awareness for such a complication. Both CT and magnetic resonance imaging are useful for the diagnosis of subarachnoid fat droplets. Copyright © 2016 Elsevier Inc. All rights reserved.

Acute Communicating Hydrocephalus as Spinal Cord Surgery Complication in Patient with Lumbar Lipomyelocele.

PubMed

Prior, Alessandro; Severino, Mariasavina; Rossi, Andrea; Pavanello, Marco; Piatelli, Gianluca; Consales, Alessandro

2018-04-17

A lumbar lipomyelocele is a closed spinal dysraphism that can cause tethered cord syndrome. Between 5% and 15% of spinal dysraphism surgery cases are burdened with complications, the most common being wound infections or dehiscence and cerebrospinal fluid leak. Acute communicating hydrocephalus has never been described as a complication of this type of surgery. A 6-year-old girl who had undergone several surgeries in another institution for lumbar lipomyeloschisis came to our attention for a second opinion about the management of her spinal dysraphism. During the visit, she experienced sudden loss of consciousness. An emergent computed tomography scan revealed an acute communicating hydrocephalus. External ventricular drainage was performed with quick recovery of consciousness. Further craniospinal magnetic resonance imaging revealed small droplets of fat in the intracranial subarachnoid spaces and ventricular system, suggestive of rupture of the lipoma with consequent aseptic meningitis. This is the first description of acute communicating hydrocephalus as a complication of lipomyelocele surgery. We discuss the possible pathophysiologic mechanisms leading to cerebrospinal fluid dynamics alteration. Copyright © 2018 Elsevier Inc. All rights reserved.

Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cherryson, A.K.; Yeung, L.; Kennerson, M.L.

1994-09-01

Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy (HMSN), is a heterogeneous group of slowly progressive disorders of the peripheral nerve. X-linked CMT (CMTX) is characterized by slow motor nerve conduction velocities in affected males and the presence of mildly affected or normal carrier females with intermediate or normal nerve conduction velocities. CMTX, which has an incidence of 3.1 per 100,000 and accounts for approximately 10% of CMT cases, has been mapped to Xq13. One of the genes lying in this region, connexin 32, has been found to contain alterations in individuals affected with X-linked CMT. We havemore » identified our X-linked families from dominant type 1 CMT families using the clinical criteria given above. These families were screened for point mutations in connexin 32. We have identified three missense mutations, a G{r_arrow}A transition at amino acid 35 (valine to methionine), a C{r_arrow}G transition at amino acid 158 (proline to alanine) and a T{r_arrow}A transition at amino acid 182 (serine to threonine). Another family showed a 18 bp deletion, which removed the amino acid 111 to 116 inclusive (histidine, glycine, aspartic acid, proline, leucine, histidine).« less

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

PubMed

Lefebvre, Mathilde; Dufernez, Fabienne; Bruel, Ange-Line; Gonzales, Marie; Aral, Bernard; Saint-Onge, Judith; Gigot, Nadège; Desir, Julie; Daelemans, Caroline; Jossic, Frédérique; Schmitt, Sébastien; Mangione, Raphaele; Pelluard, Fanny; Vincent-Delorme, Catherine; Labaune, Jean-Marc; Bigi, Nicole; D'Olne, Dominique; Delezoide, Anne-Lise; Toutain, Annick; Blesson, Sophie; Cormier-Daire, Valérie; Thevenon, Julien; El Chehadeh, Salima; Masurel-Paulet, Alice; Joyé, Nicole; Vibert-Guigue, Claude; Rigonnot, Luc; Rousseau, Thierry; Vabres, Pierre; Hervé, Philippe; Lamazière, Antonin; Rivière, Jean-Baptiste; Faivre, Laurence; Laurent, Nicole; Thauvin-Robinet, Christel

2015-07-01

Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. The mean age at diagnosis was 22 weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation. Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve de novo mutations. © 2015 John Wiley & Sons, Ltd.

Cerebral hemodynamics before and after shunting in normal pressure hydrocephalus.

PubMed

Bakker, S L M; Boon, A J W; Wijnhoud, A D; Dippel, D W J; Delwel, E J; Koudstaal, P J

2002-09-01

To study the relationship between cerebral hemodynamics and clinical performance in normal pressure hydrocephalus (NPH), before and after surgery. Ten patients were studied prospectively before and 3 months after shunt surgery by means of transcranial Doppler (TCD). Clinical performance was scored by means of an NPH scale and the modified Rankin scale. Peak systolic and mean cerebral blood flow velocity (MCV) were lower and cerebrovascular CO2 reactivity was higher after shunt surgery. The three patients with clinical improvement had higher preoperative end diastolic cerebral blood flow velocity and MCV. All postoperative cerebral blood flow velocities were higher in patients with clinical improvement. Our data suggest that higher cerebral blood flow velocity before surgery in patients with NPH is related to clinical improvement after shunt surgery. Cerebral hemodynamic parameters may develop into predictors of successful shunt surgery in patients with normal pressure hydrocephalus.

Assessing Community Quality of Health Care.

PubMed

Herrin, Jeph; Kenward, Kevin; Joshi, Maulik S; Audet, Anne-Marie J; Hines, Stephen J

2016-02-01

To determine the agreement of measures of care in different settings-hospitals, nursing homes (NHs), and home health agencies (HHAs)-and identify communities with high-quality care in all settings. Publicly available quality measures for hospitals, NHs, and HHAs, linked to hospital service areas (HSAs). We constructed composite quality measures for hospitals, HHAs, and nursing homes. We used these measures to identify HSAs with exceptionally high- or low-quality of care across all settings, or only high hospital quality, and compared these with respect to sociodemographic and health system factors. We identified three dimensions of hospital quality, four HHA dimensions, and two NH dimensions; these were poorly correlated across the three care settings. HSAs that ranked high on all dimensions had more general practitioners per capita, and fewer specialists per capita, than HSAs that ranked highly on only the hospital measures. Higher quality hospital, HHA, and NH care are not correlated at the regional level; regions where all dimensions of care are high differ systematically from regions which score well on only hospital measures and from those which score well on none. © Health Research and Educational Trust.

Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

MedlinePlus

... Share: Email Facebook Twitter Home Health Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus ... Javascript to view the expand/collapse boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus ...

The Lhx9 homeobox gene controls pineal gland development and prevents postnatal hydrocephalus.

PubMed

Yamazaki, Fumiyoshi; Møller, Morten; Fu, Cong; Clokie, Samuel J; Zykovich, Artem; Coon, Steven L; Klein, David C; Rath, Martin F

2015-01-01

Lhx9 is a member of the LIM homeobox gene family. It is expressed during mammalian embryogenesis in the brain including the pineal gland. Deletion of Lhx9 results in sterility due to failure of gonadal development. The current study was initiated to investigate Lhx9 biology in the pineal gland. Lhx9 is highly expressed in the developing pineal gland of the rat with transcript abundance peaking early in development; transcript levels decrease postnatally to nearly undetectable levels in the adult, a temporal pattern that is generally similar to that reported for Lhx9 expression in other brain regions. Studies with C57BL/6J Lhx9(-/-) mutant mice revealed marked alterations in brain and pineal development. Specifically, the superficial pineal gland is hypoplastic, being reduced to a small cluster of pinealocytes surrounded by meningeal and vascular tissue. The deep pineal gland and the pineal stalk are also reduced in size. Although the brains of neonatal Lhx9(-/-) mutant mice appear normal, severe hydrocephalus develops in about 70% of the Lhx9(-/-) mice at 5-8 weeks of age; these observations are the first to document that deletion of Lhx9 results in hydrocephalus and as such indicate that Lhx9 contributes to the maintenance of normal brain structure. Whereas hydrocephalus is absent in neonatal Lhx9(-/-)mutant mice, the neonatal pineal gland in these animals is hypoplastic. Accordingly, it appears that Lhx9 is essential for early development of the mammalian pineal gland and that this effect is not secondary to hydrocephalus.

Craniocervical Junction Meningiomas without Hydrocephalus Presenting Solely with Syncope: Report of 2 Cases.

PubMed

Champagne, Pierre-Olivier; Bojanowski, Michel W

2018-06-01

To our knowledge, there have not been any reported cases of a meningioma of the craniocervical region presenting solely with syncope as its initial symptom. Only 1 case of meningioma presenting with syncope has been published, but it was associated with hydrocephalus. We report 2 cases of syncope caused by a craniocervical junction meningioma, with syncope being the sole presenting symptom and without hydrocephalus. We discuss the possible pathophysiology, as well as the clinical relevance of this type of presentation. We reviewed the charts, operative details, and imagery of 2 cases of meningioma in the region of the craniocervical junction, with syncope as their sole presenting feature. We also reviewed the literature. In 1 case the syncope occurred spontaneously. In the other, it occurred during a Valsalva maneuver. Both meningiomas were surgically removed via a retromastoid approach. There was no recurrence of syncope following surgery. Following a literature review, we found 1 case of posterior fossa meningioma presenting with syncope, but hydrocephalus was also present. Syncope can be the sole manifestation of a meningioma of the craniocervical junction. Such syncopes are a consequence of transient dysfunction of the autonomous pathways in the medulla and/or of the medulla's output. In the absence of other causes of syncope, a meningioma in this region, even in the absence of hydrocephalus, should not be considered as fortuitous, but rather as the actual cause of syncope. Recognizing this possibility offers the potential for proper diagnosis and appropriate treatment of the syncope. Copyright © 2018 Elsevier Inc. All rights reserved.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

PubMed Central

Zhao, Hui; Huang, Xiu-Feng; Zheng, Zhi-Li; Deng, Wen-Li; Lei, Xin-Lan; Xing, Dong-Jun; Ye, Liang; Xu, Su-Zhong; Chen, Jie; Zhang, Fang; Yu, Xin-Ping; Jin, Zi-Bing

2016-01-01

Objectives Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. Design Prospective analysis. Patients Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed. Setting All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University. Results Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases. Conclusions The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID:27036142

Myosin IXa Regulates Epithelial Differentiation and Its Deficiency Results in Hydrocephalus

PubMed Central

Abouhamed, Marouan; Grobe, Kay; Leefa Chong San, Isabelle V.; Thelen, Sabine; Honnert, Ulrike; Balda, Maria S.; Matter, Karl

2009-01-01

The ependymal multiciliated epithelium in the brain restricts the cerebrospinal fluid to the cerebral ventricles and regulates its flow. We report here that mice deficient for myosin IXa (Myo9a), an actin-dependent motor molecule with a Rho GTPase–activating (GAP) domain, develop severe hydrocephalus with stenosis and closure of the ventral caudal 3rd ventricle and the aqueduct. Myo9a is expressed in maturing ependymal epithelial cells, and its absence leads to impaired maturation of ependymal cells. The Myo9a deficiency further resulted in a distorted ependyma due to irregular epithelial cell morphology and altered organization of intercellular junctions. Ependymal cells occasionally delaminated, forming multilayered structures that bridged the CSF-filled ventricular space. Hydrocephalus formation could be significantly attenuated by the inhibition of the Rho-effector Rho-kinase (ROCK). Administration of ROCK-inhibitor restored maturation of ependymal cells, but not the morphological distortions of the ependyma. Similarly, down-regulation of Myo9a by siRNA in Caco-2 adenocarcinoma cells increased Rho-signaling and induced alterations in differentiation, cell morphology, junction assembly, junctional signaling, and gene expression. Our results demonstrate that Myo9a is a critical regulator of Rho-dependent and -independent signaling mechanisms that guide epithelial differentiation. Moreover, Rho-kinases may represent a new target for therapeutic intervention in some forms of hydrocephalus. PMID:19828736

X-linked intellectual disability update 2017.

PubMed

Neri, Giovanni; Schwartz, Charles E; Lubs, Herbert A; Stevenson, Roger E

2018-04-25

The X-chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X-linked intellectual disability (XLID)-associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of high-throughput technologies. In the 10 years since the last update, the number of genes associated with XLID has increased by 96% from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high-resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function. © 2018 Wiley Periodicals, Inc.

A family study of congenital X linked sideroblastic anaemia.

PubMed Central

Holmes, J; May, A; Geddes, D; Jacobs, A

1990-01-01

We report on the cytogenetic findings in a family study of pyridoxine responsive, X linked sideroblastic anaemia. An increase in the number of X chromosomes was observed in a small proportion of metaphases prepared from five female members, but these findings did not strictly correlate with the carrier status of the condition. No consistent cytogenetic abnormality could be identified or associated with this rare familial condition. The diagnosis and counselling of carriers of this condition is discussed. Images PMID:2308152

Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report.

PubMed

Bastos, André Luís Carvalho de Moura; Freitas, Bruno de Paula; Villas Boas, Oscar; Ramiro, Alexandre Campelo

2008-01-01

X-linked juvenile retinoschisis (XLRS) is a recessively inherited vitreoretinal degeneration characterized by macular pathology and splitting of the neuroretinal layers that is associated with alterations in the XLRS1 gene. There have been no therapeutic interventions known to be effective for patients with X-linked juvenile retinoschisis, but some studies are trying to determine the importance of dorzolamide for the treatment of foveal lesions in this disease. The authors, using optical coherence tomography, describe findings in a patient with X-linked juvenile retinoschisis, before and after a topical use of dorzolamide. Besides the improvement in his visual acuity, further studies are required to elucidate the real prevalence of nonresponse to dorzolamide and the frequency with which there may be a recurrence of foveal cystic changes during continued treatment.

Lamellar macular hole in X linked retinoschisis

PubMed Central

Kumar, Vinod; Goel, Neha

2016-01-01

X linked retinoschisis (XLRS) is the most common juvenile onset retinal degeneration. The disorder leads to poor vision in old age. Complications, however, can lead to earlier loss of vision in this condition. This report describes two patients of XLRS, who had presented with poor vision because of having had a lamellar macular hole at a young age. Lamellar macular holes are rare and have never been reported to cause early onset poor vision in XLRS. PMID:27170611

Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis.

PubMed

Eriksson, Urban; Larsson, Eva; Holmström, Gerd

2004-04-01

To describe the value of optical coherence tomography (OCT) as a diagnostic tool in the diagnosis of X-linked retinoschisis. We report three boys aged between 8 and 17 years, diagnosed with X-linked retinoschisis. During investigations they were examined with OCT (Zeiss Humphrey OCT 1, upgraded version). Single scans of the central posterior pole and the region around the vascular arcades were obtained. Two of the boys underwent full-field ERG according to ISCEV standards. Genetic analysis was performed in all three boys, with sequencing of the XLRS gene. The OCT results revealed a pattern with a cleavage of the retina in two distinct planes, one deep (outer retina) and one superficial. This was very obvious in one patient and a similar but not as pronounced pattern was seen in the other two cases. The two layers were superficially connected with thin-walled, vertical palisades, separated by low reflective, cystoid spaces, confluent and most prominent in the foveal region. Full-field ERG and/or DNA analysis are well known methods used for diagnosis of X-linked juvenile retinoschisis. In this paper, we suggest that OCT can also be a helpful diagnostic tool.

X-linked cataract and Nance-Horan syndrome are allelic disorders.

PubMed

Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

2009-07-15

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

X-linked cataract and Nance-Horan syndrome are allelic disorders

PubMed Central

Coccia, Margherita; Brooks, Simon P.; Webb, Tom R.; Christodoulou, Katja; Wozniak, Izabella O.; Murday, Victoria; Balicki, Martha; Yee, Harris A.; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K.; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J.; Maher, Eamonn R.; Moore, Anthony T.; Russell-Eggitt, Isabelle M.; Hardcastle, Alison J.

2009-01-01

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication–triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved. PMID:19414485

Behavioural problems and autism in children with hydrocephalus : a population-based study.

PubMed

Lindquist, Barbro; Carlsson, Göran; Persson, Eva-Karin; Uvebrant, Paul

2006-06-01

To investigate the prevalence of behavioural problems and autism in a population-based group of children with hydrocephalus and to see whether learning disabilities, cerebral palsy (CP), epilepsy, myelomeningocele (MMC) or preterm birth increase the risk of these problems. In the 107 children with hydrocephalus born in western Sweden in 1989-1993, behaviour was assessed using the Conners' parent rating scales in 66 and the teacher's rating scales in 57. Autism was investigated using the Childhood Autism Rating Scale. Parents rated 67% of the children and teachers 39% of the children as having behavioural problems (>1.5 SD, or T score >65). Learning disabilities increased the risk significantly and almost all the children with CP and/or epilepsy had behavioural problems. Autism was present in nine children (13%), in 20% of those without MMC and in one of 26 with MMC. Autism was significantly more frequent in children with learning disabilities (27% vs. 7%) and in children with CP and/or epilepsy (33% vs. 6%). The majority of children with hydrocephalus have behavioural problems and many have autism. It is therefore important to assess and understand all the aspects of cognition and behaviour in these children in order to minimise disability and enhance participation for the child.

Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus.

PubMed

Favor, J; Pretsch, W

1990-01-01

Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

Extended Experience with Neuroendoscopic Lavage for Posthemorrhagic Hydrocephalus in Neonates.

PubMed

d'Arcangues, Charlotte; Schulz, Matthias; Bührer, Christoph; Thome, Ulrich; Krause, Matthias; Thomale, Ulrich-Wilhelm

2018-05-03

Previous studies have described neuroendoscopic lavage (NEL) as a procedure for the treatment of posthemorrhagic hydrocephalus in newborn infants. This report describes complications and results in an extended case series from 2 separate hospitals. Patient records were screened for NEL procedures performed on infants with posthemorrhagic hydrocephalus between September 2010 and May 2016 (minimum follow-up period of 12 months). Efficacy of blood removal-as assessed with cerebral ultrasound, complications, eventual shunt placement rate, and subsequent shunt revisions-were recorded. Fifty-six patients (35 male) underwent NEL at a postmenstrual median age of 31 weeks and 2 days (range, 26 weeks and 1 day to 52 weeks and 3 days) and a median weight of 1523 g (range, 734-4360 g). Median follow-up was 34 months (range, 12-80). Three patients died, and 31 patients required permanent ventriculoperitoneal shunting. There was no significant correlation between the need for ventriculoperitoneal shunting and gestational age (P = 0.05), birth weight (P = 0.07), age (P = 0.17), or weight (P = 0.59) after NEL. The median number of surgical interventions per patient was 2 (range, 1-7 interventions). Revision-free shunt survival was 63.6% at 12 and 56.2% at 24 months. NEL avoided shunt placement in 43% of newborn infants with posthemorrhagic hydrocephalus. In the shunted cohort, NEL may have also decreased the frequency of subsequent shunt revisions. The influence of NEL on neurodevelopment and safety remains to be investigated further in a multicenter setup. Copyright © 2018 Elsevier Inc. All rights reserved.

Alzheimer CSF biomarkers may be misleading in normal-pressure hydrocephalus

PubMed Central

2014-01-01

Objective: This article discusses why CSF biomarkers found in normal-pressure hydrocephalus (NPH) can be misleading when distinguishing NPH from comorbid NPH with Alzheimer disease (AD). Methods: We describe NPH CSF biomarkers and how shunt surgery can change them. We hypothesize the effects that hydrocephalus may play on interstitial fluid space and amyloid precursor protein (APP) fragment drainage into the CSF based on a recent report and how this may explain the misleading CSF NPH biomarker findings. Results: In NPH, β-amyloid protein 42 (Aβ42) is low (as in AD), but total tau (t-tau) and phospho-tau (p-tau) levels are normal, providing conflicting biomarker findings. Low Aβ42 supports an AD diagnosis but tau findings do not. Importantly, not only Aβ42, but all APP fragments and tau proteins are low in NPH CSF. Further, these proteins increase after shunting. An increase in interstitial space and APP fragment drainage into the CSF during sleep was reported recently. Conclusions: In the setting of hydrocephalus when the brain is compressed, a decrease in interstitial space and APP protein fragment drainage into the CSF may be impeded, resulting in low levels of all APP fragments and tau proteins, which has been reported. Shunting, which decompresses the brain, would create more room for the interstitial space to increase and protein waste fragments to drain into the CSF. In fact, CSF proteins increase after shunting. CSF biomarkers in pre-shunt NPH have low Aβ42 and tau protein levels, providing misleading information to distinguish NPH from comorbid NPH plus AD. PMID:25332445

Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

PubMed Central

Shows, T B; Brown, J A

1975-01-01

Human genes coding for hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase), glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49; D-glucose-6-phosphate:NADP+ 1-oxidoreductase), and phosphoglycerate kinase (PGK, EC 2.7.2.3; ATP:3-phospho-D-glycerate 1-phosphotransferase) have been assigned to specific regions on the long arm of the X chromosome by somatic cell gentic techniques. Gene assignment and linear order were determined by employing human somatic cells possessing an X/9 translocation or an X/22 translocation in man-mouse cell hybridization studies. The X/9 translocation involved the majority of the X long arm translocated to chromosome 9 and the X/22 translocation involved the distal half of the X long arm translocated to 22. In each case these rearrangements appeared to be reciprocal. Concordant segregation of X-linked enzymes and segments of the X chromosome generated by the translocations indicated assignment of the PGK gene to a proximal long arm region (q12-q22) and the HPRT and G6PD genes to the distal half (q22-qter) of the X long arm. Further evidence suggests a gene order on the X long arm of centromere-PGK-HPRT-G6PD. Images PMID:1056018

The Lhx9 homeobox gene controls pineal gland development and prevents postnatal hydrocephalus

PubMed Central

Yamazaki, Fumiyoshi; Møller, Morten; Fu, Cong; Clokie, Samuel J.; Zykovich, Artem; Coon, Steven L.; Klein, David C.; Rath, Martin F.

2014-01-01

Lhx9 is a member of the LIM homeobox gene family. It is expressed during mammalian embryogenesis in the brain including the pineal gland. Deletion of Lhx9 results in sterility due to failure of gonadal development. The current study was initiated to investigate Lhx9 biology in the pineal gland. Lhx9 is highly expressed in the developing pineal gland of the rat with transcript abundance peaking early in development; transcript levels decrease postnatally to nearly undetectable levels in the adult, a temporal pattern that is generally similar to that reported for Lhx9 expression in other brain regions. Studies with C57BL/6J Lhx9−/− mutant mice revealed marked alterations in brain and pineal development. Specifically, the superficial pineal gland is hypoplastic, being reduced to a small cluster of pinealocytes surrounded by meningeal and vascular tissue. The deep pineal gland and the pineal stalk are also reduced in size. Although the brains of neonatal Lhx9−/− mutant mice appear normal, severe hydrocephalus develops in about 70 % of the Lhx9−/− mice at 5–8 weeks of age; these observations are the first to document that deletion of Lhx9 results in hydrocephalus and as such indicate that Lhx9 contributes to the maintenance of normal brain structure. Whereas hydrocephalus is absent in neonatal Lhx9−/−mutant mice, the neonatal pineal gland in these animals is hypoplastic. Accordingly, it appears that Lhx9 is essential for early development of the mammalian pineal gland and that this effect is not secondary to hydrocephalus. PMID:24647753

Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

PubMed

Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

2011-07-01

A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

Predictors of shunt-dependent hydrocephalus following aneurysmal subarachnoid hemorrhage: a pilot study in a single Egyptian institute.

PubMed

Aboul-Ela, Hashem M; Salah El-Din, Ahmed M; Zaater, Ahmed A; Shehab, Mohamed; El Shahawy, Ossama A

2018-01-01

Acute hydrocephalus can cause neurological deterioration after aneurysmal subarachnoid hemorrhage (aSAH). Predicting which patient would require shunting is challenging. This prospective study was conducted upon twenty patients who suffered acute hydrocephalus due to subarachnoid hemorrhage of ruptured aneurysms. Surgical or non-surgical management of hydrocephalus was conducted. Glasgow Coma scale (GCS) was assessed, and hydrocephalus was graded by bicaudate index. Fisher grade was determined from CT scan. Aneurysm site was determined by conventional or CT angiography. Either surgical clipping or endovascular coiling of aneurysms was performed. Initially, 3 (15%) patients had emergency CSF diversion on admission due to poor GCS on arrival. Initially, the remaining 17 patients were managed conservatively. Five patients did not require any intervention. Twelve patients had external ventricular drainage placement, 4 were weaned, and 8 failed weaning. High bicaudate index (> 0.2) correlated with shunting. Aneurysm site correlated well with shunting (ACoA or PCoA). Patients with fair GCS can be managed conservatively. Any deterioration warrants shifting to CSF diversion. Higher bicaudate index will usually need CSF diversion. The value of Fisher carries no significant value. Aneurysm location (ACoA or PCoA) correlates with an increased incidence of ventriculoperitoneal shunt placement.

Intracerebral hemorrhage with intraventricular extension and no hydrocephalus may not increase mortality or severe disability.

PubMed

Mahta, Ali; Katz, Paul M; Kamel, Hooman; Azizi, S Ausim

2016-08-01

This paper aimed to test the hypothesis that intraventricular extension of spontaneous intracerebral hemorrhage (ICH) in the absence of hydrocephalus is not associated with increased mortality or severe disability. We performed a retrospective consecutive cohort study of patients with primary spontaneous ICH who were admitted to a single institution. Multivariate logistic regression analysis was used to assess the association of each variable with functional outcome as measured by the modified Rankin Scale (mRS). A total of 164 patients met our inclusion criteria and were included in the study. Only hydrocephalus (p=0.002) and hematoma volume (p=0.006) were significantly associated with mortality or poor functional outcome (mRS of 3 to 6). In contrast, the presence of intraventricular hematoma was not independently associated with poor functional outcome. The presence of intraventricular extension of ICH in the absence of hydrocephalus may not increase mortality or disability. Copyright © 2016 Elsevier Ltd. All rights reserved.

Lamellar macular hole in X linked retinoschisis.

PubMed

Kumar, Vinod; Goel, Neha

2016-05-11

X linked retinoschisis (XLRS) is the most common juvenile onset retinal degeneration. The disorder leads to poor vision in old age. Complications, however, can lead to earlier loss of vision in this condition. This report describes two patients of XLRS, who had presented with poor vision because of having had a lamellar macular hole at a young age. Lamellar macular holes are rare and have never been reported to cause early onset poor vision in XLRS. 2016 BMJ Publishing Group Ltd.

Endoscopic third ventriculostomy in the treatment of childhood hydrocephalus.

PubMed

Kulkarni, Abhaya V; Drake, James M; Mallucci, Conor L; Sgouros, Spyros; Roth, Jonathan; Constantini, Shlomi

2009-08-01

To develop a model to predict the probability of endoscopic third ventriculostomy (ETV) success in the treatment for hydrocephalus on the basis of a child's individual characteristics. We analyzed 618 ETVs performed consecutively on children at 12 international institutions to identify predictors of ETV success at 6 months. A multivariable logistic regression model was developed on 70% of the dataset (training set) and validated on 30% of the dataset (validation set). In the training set, 305/455 ETVs (67.0%) were successful. The regression model (containing patient age, cause of hydrocephalus, and previous cerebrospinal fluid shunt) demonstrated good fit (Hosmer-Lemeshow, P = .78) and discrimination (C statistic = 0.70). In the validation set, 105/163 ETVs (64.4%) were successful and the model maintained good fit (Hosmer-Lemeshow, P = .45), discrimination (C statistic = 0.68), and calibration (calibration slope = 0.88). A simplified ETV Success Score was devised that closely approximates the predicted probability of ETV success. Children most likely to succeed with ETV can now be accurately identified and spared the long-term complications of CSF shunting.

A major X-linked locus affects kidney function in mice

PubMed Central

Leduc, Magalie S.; Savage, Holly S.; Stearns, Timothy M.; Cario, Clinton L.; Walsh, Kenneth A.; Paigen, Beverly; Berndt, Annerose

2012-01-01

Chronic kidney disease is a common disease with increasing prevalence in the western population. One common reason for chronic kidney failure is diabetic nephropathy. Diabetic nephropathy and hyperglycemia are characteristics of the mouse inbred strain KK/HlJ, which is predominantly used as a model for metabolic syndrome due to its inherited glucose intolerance and insulin resistance. We used KK/HlJ, an albuminuria-sensitive strain, and C57BL/6J, an albuminuria-resistant strain, to perform a quantitative trait locus (QTL) cross to identify the genetic basis for chronic kidney failure. Albumin-creatinine-ratio (ACR) was measured in 130 F2 male offspring. One significant QTL was identified on chromosome (Chr) X and four suggestive QTLs were found on Chrs 6, 7, 12, and 13. Narrowing of the QTL region was focused on the X-linked QTL and performed by incorporating genotype and expression analyses for genes located in the region. From the 485 genes identified in the X-linked QTL region, a few candidate genes were identified using a combination of bioinformatic evidence based on genomic comparison of the parental strains and known function in urine homeostasis. Finally, this study demonstrates the significance of the X chromosome in the genetic determination of albuminuria. PMID:23011808

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

PubMed

Saugier-Veber, Pascale; Marguet, Florent; Lecoquierre, François; Adle-Biassette, Homa; Guimiot, Fabien; Cipriani, Sara; Patrier, Sophie; Brasseur-Daudruy, Marie; Goldenberg, Alice; Layet, Valérie; Capri, Yline; Gérard, Marion; Frébourg, Thierry; Laquerrière, Annie

2017-05-01

Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aqueduct of Sylvius, the third and fourth ventricles as well as the central canal of the medulla, consisting in multifocal rosettes with immature cell accumulation in the vicinity of ependymal lining early detached from the ventricular zone. MPDZ also named MUPP1 is an essential component of tight junctions which are expressed from early brain development in the choroid plexuses and ependyma. Alterations in the formation of tight junctions within the ependyma very likely account for the lesions observed and highlight for the first time that primary multifocal ependymal malformations of the ventricular system is genetically determined in humans. Therefore, MPDZ sequencing should be performed when neuropathological examination reveals multifocal ependymal rosette formation within the aqueduct of Sylvius, of the third and fourth ventricles and of the central canal of the medulla.

Antemortem diagnosis of hydrocephalus in two Congo African grey parrots (Psittacus erithacus erithacus) by means of computed tomography.

PubMed

Thurber, Mary I; Mans, Christoph; Fazio, Constance; Waller, Ken; Rylander, Helena; Pinkerton, Marie E

2015-04-01

A 7-year-old and a 10-year-old Congo African grey parrot (Psittacus erithacus erithacus; parrots 1 and 2, respectively) were evaluated because of neurologic deficits. Parrot 1 had an 8- to 9-month history of lethargy and anorexia, with a recent history of a suspected seizure. Parrot 2 had a 6-month history of decreased activity and vocalizing, with an extended history of excessive water intake; a water deprivation test ruled out diabetes insipidus, and psychogenic polydipsia was suspected. Both birds had ophthalmologic asymmetry, with anisocoria detected in parrot 1 and unilateral blindness in parrot 2. Metal gastrointestinal foreign bodies were observed on whole-body radiographs of both birds, but blood lead concentrations were below the range indicated for lead toxicosis. Findings on CT of the head were consistent with hydrocephalus in both cases. Parrot 1 received supportive care and died 3 months after the diagnosis of hydrocephalus. Parrot 2 was treated with omeprazole and prednisolone for 10 days without any improvement in neurologic deficits; euthanasia was elected, and hydrocephalus was confirmed on necropsy. No underlying or concurrent disease was identified. Hydrocephalus should be considered a differential diagnosis for parrots evaluated because of CNS signs. Computed tomography was an excellent screening tool to diagnose hydrocephalus in these patients. Compared with MRI, CT is more frequently available and offers reduced scanning times, reduced cost, and less concern for interference from metallic foreign bodies.

Postoperative epidural haematomas associated with hydrocephalus caused by intraoperative overdrainage of cerebrospinal fluid: two case reports with a literature review of 19 cases

PubMed Central

Niimura, Manabu; Takai, Keisuke; Taniguchi, Makoto

2015-01-01

We report two cases with postoperative epidural haematomas (EDHs) associated with hydrocephalus and discuss the cause of haematoma development on the basis of a literature review. A 13-year-old boy presented with obstructive hydrocephalus caused by a sellar mass lesion. Multifocal EDHs occurred after partial resection of the lesion via a transcallosal approach following ventricular drainage. In the second case, a 26-year-old man who had a history of ventriculoperitoneal shunting for congenital hydrocephalus presented with hydrocephalus caused by ventricular catheter obstruction. An EDH occurred after replacement of the ventricular catheter with a new burr hole opening. On the basis of a review of 19 cases including our two cases, the authors concluded that postoperative EDH development associated with hydrocephalus was mostly caused by intraoperative overdrainage of cerebrospinal fluid, resulting in rapid shrinkage of the brain with dilation of the epidural space, a situation that may have caused dural venous bleeding. PMID:25666241

Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fain, P.R.; Barker, D.F.; Chance, P.F.

1994-02-01

Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X Chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56, PGK1). 38 refs., 2 figs., 1 tab.

X-linked Alport syndrome caused by splicing mutations in COL4A5.

PubMed

Nozu, Kandai; Vorechovsky, Igor; Kaito, Hiroshi; Fu, Xue Jun; Nakanishi, Koichi; Hashimura, Yuya; Hashimoto, Fusako; Kamei, Koichi; Ito, Shuichi; Kaku, Yoshitsugu; Imasawa, Toshiyuki; Ushijima, Katsumi; Shimizu, Junya; Makita, Yoshio; Konomoto, Takao; Yoshikawa, Norishige; Iijima, Kazumoto

2014-11-07

X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism. In total, 152 patients with X-linked Alport syndrome who were suspected of having Alport syndrome through clinical and pathologic investigations and referred to the hospital for mutational analysis between January of 2006 and January of 2013 were genetically diagnosed. Among those patients, 22 patients had suspected splice site mutations. Transcripts are routinely examined when suspected splice site mutations for abnormal transcripts are detected; 11 of them showed expected exon skipping, but others showed aberrant splicing patterns. The mutation detection strategy had two steps: (1) genomic DNA analysis using PCR and direct sequencing and (2) mRNA analysis using RT-PCR to detect RNA processing abnormalities. Six splicing consensus site mutations resulting in aberrant splicing patterns, one exonic mutation leading to exon skipping, and four deep intronic mutations producing cryptic splice site activation were identified. Interestingly, one case produced a cryptic splice site with a single nucleotide substitution in the deep intron that led to intronic exonization containing a stop codon; however, the patient showed a clearly milder phenotype for X-linked Alport syndrome in men with a truncating mutation. mRNA extracted from the kidney showed both normal and abnormal transcripts, with the normal transcript resulting in the milder phenotype. This novel mechanism leads to mild clinical characteristics. This report highlights the importance of analyzing transcripts to enhance the mutation detection rate and provides insight into genotype-phenotype correlations. This approach can clarify the cause of atypically mild phenotypes in X-linked

Hydrocephalus compacted cortex and hippocampus and altered their output neurons in association with spatial learning and memory deficits in rats.

PubMed

Chen, Li-Jin; Wang, Yueh-Jan; Chen, Jeng-Rung; Tseng, Guo-Fang

2017-07-01

Hydrocephalus is a common neurological disorder in children characterized by abnormal dilation of cerebral ventricles as a result of the impairment of cerebrospinal fluid flow or absorption. Clinical presentation of hydrocephalus varies with chronicity and often shows cognitive dysfunction. Here we used a kaolin-induction method in rats and studied the effects of hydrocephalus on cerebral cortex and hippocampus, the two regions highly related to cognition. Hydrocephalus impaired rats' performance in Morris water maze task. Serial three-dimensional reconstruction from sections of the whole brain freshly froze in situ with skull shows that the volumes of both structures were reduced. Morphologically, pyramidal neurons of the somatosensory cortex and hippocampus appear to be distorted. Intracellular dye injection and subsequent three-dimensional reconstruction and analyses revealed that the dendritic arbors of layer III and V cortical pyramid neurons were reduced. The total dendritic length of CA1, but not CA3, pyramidal neurons was also reduced. Dendritic spine densities on both cortical and hippocampal pyramidal neurons were decreased, consistent with our concomitant findings that the expressions of both synaptophysin and postsynaptic density protein 95 were reduced. These cortical and hippocampal changes suggest reductions of excitatory connectivity, which could underlie the learning and memory deficits in hydrocephalus. © 2016 International Society of Neuropathology.

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

PubMed

Fullwood, P; Jones, J; Bundey, S; Dudgeon, J; Fielder, A R; Kilpatrick, M W

1993-03-01

A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

Hydrocephalus in a patient with an unruptured pial arteriovenous fistula: hydrodynamic considerations, endovascular treatment, and clinical course.

PubMed

Morales-Gómez, Jesús A; Garza-Oyervides, Vicente V; Arenas-Ruiz, José A; Mercado-Flores, Mariana; Elizondo-Riojas, C Guillermo; Boop, Frederick A; de León, Ángel Martínez-Ponce

2017-03-01

Intracranial pial arteriovenous fistulas, also known as nongalenic fistulas, are rare vascular malformations affecting predominantly the pediatric population. Hydrocephalus is an unusual presentation in which the exact pathophysiology is not fully understood. The aim of treatment in these cases is occlusion of the fistula prior to considering ventricular shunting. Here, the authors describe the hydrodynamic considerations of the paravascular pathway and the resolution of hydrocephalus with endovascular treatment of the fistula.

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

PubMed

Slavotinek, Anne; Lee, Stephen S; Hamilton, Steven P

2005-10-01

We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1. (c) 2005 Wiley-Liss, Inc.

CAPILLARY NETWORK ALTERATIONS IN X-LINKED RETINOSCHISIS IMAGED ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PubMed

Romano, Francesco; Arrigo, Alessandro; Chʼng, Soon Wai; Battaglia Parodi, Maurizio; Manitto, Maria Pia; Martina, Elisabetta; Bandello, Francesco; Stanga, Paulo E

2018-06-05

To assess foveal and parafoveal vasculature at the superficial capillary plexus, deep capillary plexus, and choriocapillaris of patients with X-linked retinoschisis by means of optical coherence tomography angiography. Six patients with X-linked retinoschisis (12 eyes) and seven healthy controls (14 eyes) were recruited and underwent complete ophthalmologic examination, including best-corrected visual acuity, dilated fundoscopy, and 3 × 3-mm optical coherence tomography angiography macular scans (DRI OCT Triton; Topcon Corp). After segmentation and quality review, optical coherence tomography angiography slabs were imported into ImageJ 1.50 (NIH; Bethesda) and digitally binarized. Quantification of vessel density was performed after foveal avascular zone area measurement and exclusion. Patients were additionally divided into "responders" and "nonresponders" to dorzolamide therapy. Foveal avascular zone area resulted markedly enlarged at the deep capillary plexus (P < 0.001), particularly in nonresponders. Moreover, patients disclosed a significant deep capillary plexus rarefaction, when compared with controls (P: 0.04); however, a subanalysis revealed that this damage was limited to the fovea (P: 0.006). Finally, the enlargement of foveal avascular zone area positively correlated with a decline in best-corrected visual acuity (P: 0.01). Prominent foveal vascular impairment is detectable in the deep capillary plexus of patients with X-linked retinoschisis. Our results correlate with functional outcomes, suggesting a possible vascular role in X-linked retinoschisis clinical manifestations.

Genetics Home Reference: L1 syndrome

MedlinePlus

... X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. Acta Neuropathol. 2013 Sep; ... F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. ...

Targeting Germinal Matrix Hemorrhage-Induced Overexpression of Sodium-Coupled Bicarbonate Exchanger Reduces Posthemorrhagic Hydrocephalus Formation in Neonatal Rats.

PubMed

Li, Qian; Ding, Yan; Krafft, Paul; Wan, Weifeng; Yan, Feng; Wu, Guangyong; Zhang, Yixin; Zhan, Qunling; Zhang, John H

2018-01-31

Germinal matrix hemorrhage (GMH) is a leading cause of mortality and lifelong morbidity in preterm infants. Posthemorrhagic hydrocephalus (PHH) is a common complication of GMH. A sodium-coupled bicarbonate exchanger (NCBE) encoded by solute carrier family 4 member 10 gene is expressed on the choroid plexus basolateral membrane and may play a role in cerebrospinal fluid production and the development of PHH. Following GMH, iron degraded from hemoglobin has been linked to PHH. Choroid plexus epithelial cells also contain iron-responsive element-binding proteins (IRPs), IRP1, and IRP2 that bind to mRNA iron-responsive elements. The present study aims to resolve the following issues: (1) whether the expression of NCBE is regulated by IRPs; (2) whether NCBE regulates the formation of GMH-induced hydrocephalus; and (3) whether inhibition of NCBE reduces PHH development. GMH model was established in P7 rat pups by injecting bacterial collagenase into the right ganglionic eminence. Another group received iron trichloride injections instead of collagenase. Deferoxamine was administered intraperitoneally for 3 consecutive days after GMH/iron trichloride. Solute carrier family 4 member 10 small interfering RNA or scrambled small interfering RNA was administered by intracerebroventricular injection 24 hours before GMH and followed with an injection every 7 days over 21 days. NCBE expression increased while IRP2 expression decreased after GMH/iron trichloride. Deferoxamine ameliorated both the GMH-induced and iron trichloride-induced decrease of IRP2 and decreased NCBE expressions. Deferoxamine and solute carrier family 4 member 10 small interfering RNA improved cognitive and motor functions at 21 to 28 days post GMH and reduced cerebrospinal fluid production as well as the degree of hydrocephalus at 28 days after GMH. Targeting iron-induced overexpression of NCBE may be a translatable therapeutic strategy for the treatment of PHH following GMH. © 2018 The Authors

Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

PubMed

Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

2017-01-01

Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

PubMed Central

Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J.; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H.; Bours, Vincent; Liu, Pengfei; De Herder, Wouter; Pellegata, Natalia; Lupski, James R.; Daly, Adrian F.; Stratakis, Constantine A.

2015-01-01

X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

Control volume based hydrocephalus research; a phantom study

NASA Astrophysics Data System (ADS)

Cohen, Benjamin; Voorhees, Abram; Madsen, Joseph; Wei, Timothy

2009-11-01

Hydrocephalus is a complex spectrum of neurophysiological disorders involving perturbation of the intracranial contents; primarily increased intraventricular cerebrospinal fluid (CSF) volume and intracranial pressure are observed. CSF dynamics are highly coupled to the cerebral blood flows and pressures as well as the mechanical properties of the brain. Hydrocephalus, as such, is a very complex biological problem. We propose integral control volume analysis as a method of tracking these important interactions using mass and momentum conservation principles. As a first step in applying this methodology in humans, an in vitro phantom is used as a simplified model of the intracranial space. The phantom's design consists of a rigid container filled with a compressible gel. Within the gel a hollow spherical cavity represents the ventricular system and a cylindrical passage represents the spinal canal. A computer controlled piston pump supplies sinusoidal volume fluctuations into and out of the flow phantom. MRI is used to measure fluid velocity and volume change as functions of time. Independent pressure measurements and momentum flow rate measurements are used to calibrate the MRI data. These data are used as a framework for future work with live patients and normal individuals. Flow and pressure measurements on the flow phantom will be presented through the control volume framework.

Comorbid Normal Pressure Hydrocephalus with Parkinsonism: A Clinical Challenge and Call for Awareness.

PubMed

Cucca, A; Biagioni, M C; Sharma, K; Golomb, J; Gilbert, R M; Di Rocco, A; Fleisher, J E

2018-01-01

Idiopathic normal pressure hydrocephalus (iNPH) is the most common cause of hydrocephalus in adults. The diagnosis may be challenging, requiring collaborative efforts between different specialists. According to the International Society for Hydrocephalus and Cerebrospinal Fluid Disorders, iNPH should be considered in the differential of any unexplained gait failure with insidious onset. Recognizing iNPH can be even more difficult in the presence of comorbid neurologic disorders. Among these, idiopathic Parkinson's disease (PD) is one of the major neurologic causes of gait dysfunction in the elderly. Both conditions have their peak prevalence between the 6th and the 7th decade. Importantly, postural instability and gait dysfunction are core clinical features in both iNPH and PD. Therefore, diagnosing iNPH where diagnostic criteria of PD have been met represents an additional clinical challenge. Here, we report a patient with parkinsonism initially consistent with PD who subsequently displayed rapidly progressive postural instability and gait dysfunction leading to the diagnosis of concomitant iNPH. In the following sections, we will review the clinical features of iNPH, as well as the overlapping and discriminating features when degenerative parkinsonism is in the differential diagnosis. Understanding and recognizing the potential for concomitant disease are critical when treating both conditions.

Diffusion tensor imaging study of pediatric patients with congenital hydrocephalus: 1-year postsurgical outcomes.

PubMed

Mangano, Francesco T; Altaye, Mekibib; McKinstry, Robert C; Shimony, Joshua S; Powell, Stephanie K; Phillips, Jannel M; Barnard, Holly; Limbrick, David D; Holland, Scott K; Jones, Blaise V; Dodd, Jonathan; Simpson, Sarah; Mercer, Deanna; Rajagopal, Akila; Bidwell, Sarah; Yuan, Weihong

2016-09-01

OBJECTIVE The purpose of this study was to investigate white matter (WM) structural abnormalities using diffusion tensor imaging (DTI) in children with hydrocephalus before CSF diversionary surgery (including ventriculoperitoneal shunt insertion and endoscopic third ventriculostomy) and during the course of recovery after surgery in association with neuropsychological and behavioral outcome. METHODS This prospective study included 54 pediatric patients with congenital hydrocephalus (21 female, 33 male; age range 0.03-194.5 months) who underwent surgery and 64 normal controls (30 female, 34 male; age range 0.30-197.75 months). DTI and neurodevelopmental outcome data were collected once in the control group and 3 times (preoperatively and at 3 and 12 months postoperatively) in the patients with hydrocephalus. DTI measures, including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values were extracted from the genu of the corpus callosum (gCC) and the posterior limb of internal capsule (PLIC). Group analysis was performed first cross-sectionally to quantify DTI abnormalities at 3 time points by comparing the data obtained in the hydrocephalus group for each of the 3 time points to data obtained in the controls. Longitudinal comparisons were conducted pairwise between different time points in patients whose data were acquired at multiple time points. Neurodevelopmental data were collected and analyzed using the Adaptive Behavior Assessment System, Second Edition, and the Bayley Scales of Infant Development, Third Edition. Correlation analyses were performed between DTI and behavioral measures. RESULTS Significant DTI abnormalities were found in the hydrocephalus patients in both the gCC (lower FA and higher MD, AD, and RD) and the PLIC (higher FA, lower AD and RD) before surgery. The DTI measures in the gCC remained mostly abnormal at 3 and 12 months after surgery. The DTI abnormalities in the PLIC were

Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

USDA-ARS?s Scientific Manuscript database

Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

Uptake of (/sup 14/C)deoxyglucose into brain of young rats with inherited hydrocephalus

DOE Office of Scientific and Technical Information (OSTI.GOV)

Richards, H.K.; Bucknall, R.M.; Jones, H.C.

1989-02-01

The effect of hydrocephalus on cerebral glucose utilization as reflected by deoxyglucose uptake has been examined in rats with inherited hydrocephalus at 10, 20, and 28 days after birth using a semiquantitative method. Injection of (14C)deoxyglucose intraperitoneally was followed by freezing the brain, sectioning, and quantitative autoradiography of 10 brain regions. Brain (14C) concentration, cortical thickness, and plasma glucose concentrations were measured. Maximal thinning of the cerebral cortex had already occurred by 10 days after birth, although obvious symptoms such as gait disturbance developed after 20 days. In control rats, the cerebral isotope concentration was lower and more homogeneous atmore » 10 days than at 20 or 28 days, which may be a reflection of the use of metabolic substrates other than glucose in younger animals. In order to make comparisons between control and hydrocephalic groups, tissue isotope concentrations were normalized to cerebellar cortex which was not affected by the hydrocephalus at any age. In hydrocephalic rats at 10 and 20 days, the concentration of (14C) was lower in all areas except the inferior colliculi and pons but the reduction was only significant in the sensory-motor cortex at 10 days and in the caudate nuclei at 20 days. By 28 days after birth, all areas except the cerebellum (six cortical regions, inferior colliculi, pons, and caudate) had significantly lower isotope concentrations in the hydrocephalic group. It is concluded that cerebral glucose metabolism is significantly reduced by 28 days after birth in H-Tx rats with congenital hydrocephalus and that less marked reductions occur prior to 28 days.« less

Loss of Dishevelleds disrupts planar polarity in ependymal motile cilia and results in hydrocephalus

PubMed Central

Ohata, Shinya; Nakatani, Jin; Herranz-Pérez, Vicente; Cheng, JrGang; Belinson, Haim; Inubushi, Toshiro; Snider, William D.; García-Verdugo, Jose Manuel; Wynshaw-Boris, Anthony; Álvarez-Buylla, Arturo

2014-01-01

SUMMARY Defects in ependymal (E) cells, which line the ventricle and generate cerebrospinal fluid flow through ciliary beating, can cause hydrocephalus. Dishevelled genes (Dvls) are essential for Wnt signaling and Dvl2 has been shown to localize to the rootlet of motile cilia. Using the hGFAP-Cre;Dvl1−/−;2flox/flox;3+/− mouse, we show that compound genetic ablation of Dvls causes hydrocephalus. In hGFAP-Cre;Dvl1−/−;2flox/flox;3+/− mutants, E cells differentiated normally, but the intracellular and intercellular rotational alignments of ependymal motile cilia were disrupted. As a consequence, the fluid flow generated by the hGFAP-Cre;Dvl1−/−;2flox/flox;3+/− E cells was significantly slower than that observed in control mice. Dvls were also required for the proper positioning of motile cilia on the apical surface. Tamoxifen-induced conditional removal of Dvls in adult mice also resulted in defects in intracellular rotational alignment and positioning of ependymal motile cilia. These results suggest that Dvls are continuously required for E cell planar polarity and may prevent hydrocephalus. PMID:25043421

Infant hydrocephalus in sub-Saharan Africa: the reality on the Tanzanian side of the lake.

PubMed

Santos, Maria M; Rubagumya, Derick K; Dominic, Imani; Brighton, Amos; Colombe, Soledad; O'Donnell, Philip; Zubkov, Micaella R; Härtl, Roger

2017-11-01

OBJECTIVE Infant hydrocephalus is estimated to affect more than 100,000 new infants each year in sub-Saharan Africa (SSA). Bugando Medical Centre (BMC), a government-funded and patient cost-shared referral center, serves over 13 million people in the Lake and Western regions of Tanzania. The goals of this study were to characterize the infant population affected by hydrocephalus who presented to BMC and were treated with a ventriculoperitoneal shunt (VPS) to determine the rate of early complications associated with this surgical procedure and to assess its potential risk factors. METHODS Data were prospectively collected from all patients less than 1 year of age who, over a period of 7 months, were diagnosed with hydrocephalus and admitted to BMC for insertion of a primary VPS. Demographic data, maternal history, preoperative studies, surgical procedure, and surgical complications developing by the time of the first follow-up visit were analyzed. Risk factors associated with the surgical complications were determined. RESULTS During the 7-month study period, 125 infants eligible for the study were included in the analysis. Overall, 75% were younger than 6 months of age, and 56% were males. Only 7% of mothers had a gestational ultrasound, 98% did not receive preconception folic acid, and 25% delivered their child at home. In most patients with hydrocephalus the etiology was uncertain (56%), and other patients had postinfectious (22.4%) or myelomeningocele-associated (16%) hydrocephalus. Patients' mean head circumference on admission was 51.4 ± 6.3 cm. Their median age at shunt surgery was 137 days, and 22.4% of the patients were operated on without having undergone radiological assessment. The majority of shunts were placed in a right parietooccipital location. Thirteen patients had undergone a previous intraventricular endoscopic procedure. Overall, at least one surgical complication was found in 33.6% of patients up to the first follow-up assessment (median

Genetic Analysis of a Kindred With X-linked Mental Handicap and Retinitis Pigmentosa

PubMed Central

Aldred, M. A.; Dry, K. L.; Knight-Jones, E. B.; Hardwick, L. J.; Teague, P. W.; Lester, D. H.; Brown, J.; Spowart, G.; Carothers, A. D.; Raeburn, J. A.; Bird, A. C.; Fielder, A. R.; Wright, A. F.

1994-01-01

A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538 and 5'-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified. PMID:7977353

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

PubMed

Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

2018-01-01

Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study.

PubMed

Yu, Jia; Ni, Yingqin; Keane, Pearse A; Jiang, Chunhui; Wang, Wenji; Xu, Gezhi

2010-06-01

To explore the structural features of juvenile X-linked retinoschisis using spectral-domain optical coherence tomography (OCT). Retrospective, observational cross-sectional study. Eighteen male patients (34 eyes) who were diagnosed with juvenile X-linked retinoschisis at the Eye & ENT Hospital of Fudan University over an 18-month period were included. Their OCT images, which were obtained using spectral-domain OCT (Cirrus HD-OCT; Carl Zeiss Meditec), were analyzed. The anatomic location of the schisis cavity in juvenile X-linked retinoschisis was characterized by direct inspection of OCT images. On OCT, the schisis cavity was visible at the fovea in all 34 eyes, and it was associated with increased retinal thickness. Schisis was present at the retinal nerve fiber layer in 4 eyes, at the inner nuclear layer in 29 eyes, and at the outer nuclear layer/outer plexiform layer in 22 eyes. In most cases, widespread foveomacular schisis was detected using OCT; however, in 9 eyes (6 patients), the schisis was confined to the fovea. Schisis of the inner nuclear layer and outer nuclear layer/outer plexiform layer almost always involved the foveal center, but retinal nerve fiber layer schisis was seen only in the parafoveal area. Despite conventional wisdom, in patients with X-linked retinoschisis, the schisis cavity can occur in a number of different layers of the neurosensory retina (retinal nerve fiber layer, inner nuclear layer, and outer nuclear layer/outer plexiform layer). In addition, different forms of schisis may affect different locations in the macula (foveal vs parafoveal), and, in most eyes, the schisis involves the entire foveomacular region. Copyright 2010 Elsevier Inc. All rights reserved.

Results of Isotope Cisternography in 175 Patients with a Suspected Hydrocephalus

PubMed Central

Lee, Sang-Mi; Shim, Jae-Joon; Yoon, Seok-Mann; Bae, Hack-Gun; Doh, Jae-Won

2015-01-01

Objective Normal pressure hydrocephalus (NPH) is a syndrome characterized by gait disturbance, memory impairment and urinary incontinence. The isotope cisternography (ICG) became less useful because of low accuracy and complications. We tried to evaluate the safety and value of the ICG. Methods We retrospectively collected data on ICG of 175 consecutive patients with a suspected hydrocephalus. We classified the ICG into four types by the ventricular reflux and circulation time. The ventricular size was measured by Evans index and the width of the third ventricle. Results There were three complications including one case of paraplegia. Type 4 was the most common type, observed in 53%. Type 3 (33%), type 2 (7%), and type 1 (7%) were observed less often. Type 4 was more common in patients with large ventricles. Types of the ICG were not related to the causes of hydrocephalus, gender, or age of the patients. Shunting was more frequently performed in type 4 (71%), compared to type 1 (17%), type 2 (33%), and type 3 (46%). Surgery was more common when the cause was vascular. After the shunt surgery, 33.0% were graded as the improved. Although there were some improvements even in the not-improved patients, they still needed many helps. The improvement was related to the preoperative state. Conclusion ICG may bring a serious complication, however the incidence is very low. Although the predictability of response rate on the shunting is doubtful, ICG is a cheap and useful tool to select surgical candidates in NPH. PMID:27169059

A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis

PubMed Central

Jwa, Nam Soo; Kim, Sung Soo; Lee, Sung Chul; Kwon, Oh Woong

2006-01-01

Purpose To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Methods Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. Results A novel Leu103Phe missense mutation was identified. Conclusions A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis. PMID:16768192

Junctional Adhesion Molecule (JAM)-C Deficient C57BL/6 Mice Develop a Severe Hydrocephalus

PubMed Central

Liebner, Stefan; Mittelbronn, Michel; Deutsch, Urban; Enzmann, Gaby; Adams, Ralf H.; Aurrand-Lions, Michel; Plate, Karl H.; Imhof, Beat A.; Engelhardt, Britta

2012-01-01

The junctional adhesion molecule (JAM)-C is a widely expressed adhesion molecule regulating cell adhesion, cell polarity and inflammation. JAM-C expression and function in the central nervous system (CNS) has been poorly characterized to date. Here we show that JAM-C−/− mice backcrossed onto the C57BL/6 genetic background developed a severe hydrocephalus. An in depth immunohistochemical study revealed specific immunostaining for JAM-C in vascular endothelial cells in the CNS parenchyma, the meninges and in the choroid plexus of healthy C57BL/6 mice. Additional JAM-C immunostaining was detected on ependymal cells lining the ventricles and on choroid plexus epithelial cells. Despite the presence of hemorrhages in the brains of JAM-C−/− mice, our study demonstrates that development of the hydrocephalus was not due to a vascular function of JAM-C as endothelial re-expression of JAM-C failed to rescue the hydrocephalus phenotype of JAM-C−/− C57BL/6 mice. Evaluation of cerebrospinal fluid (CSF) circulation within the ventricular system of JAM-C−/− mice excluded occlusion of the cerebral aqueduct as the cause of hydrocephalus development but showed the acquisition of a block or reduction of CSF drainage from the lateral to the 3rd ventricle in JAM-C−/− C57BL/6 mice. Taken together, our study suggests that JAM-C−/− C57BL/6 mice model the important role for JAM-C in brain development and CSF homeostasis as recently observed in humans with a loss-of-function mutation in JAM-C. PMID:23029139

Glycan Engagement Dictates Hydrocephalus Induction by Serotype 1 Reovirus

PubMed Central

Stencel-Baerenwald, Jennifer; Reiss, Kerstin; Blaum, Bärbel S.; Colvin, Daniel; Li, Xiao-Nan; Abel, Ty; Boyd, Kelli; Stehle, Thilo

2015-01-01

ABSTRACT Receptors expressed on the host cell surface adhere viruses to target cells and serve as determinants of viral tropism. Several viruses bind cell surface glycans to facilitate entry, but the contribution of specific glycan moieties to viral disease is incompletely understood. Reovirus provides a tractable experimental model for studies of viral neuropathogenesis. In newborn mice, serotype 1 (T1) reovirus causes hydrocephalus, whereas serotype 3 (T3) reovirus causes encephalitis. T1 and T3 reoviruses engage distinct glycans, suggesting that glycan-binding capacity contributes to these differences in pathogenesis. Using structure-guided mutagenesis, we engineered a mutant T1 reovirus incapable of binding the T1 reovirus-specific glycan receptor, GM2. The mutant virus induced substantially less hydrocephalus than wild-type virus, an effect phenocopied by wild-type virus infection of GM2-deficient mice. In comparison to wild-type virus, yields of mutant virus were diminished in cultured ependymal cells, the cell type that lines the brain ventricles. These findings suggest that GM2 engagement targets reovirus to ependymal cells in mice and illuminate the function of glycan engagement in reovirus serotype-dependent disease. PMID:25736887

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

PubMed Central

Bichet, D G; Arthus, M F; Lonergan, M; Hendy, G N; Paradis, A J; Fujiwara, T M; Morgan, K; Gregory, M C; Rosenthal, W; Didwania, A

1993-01-01

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations in the V2 receptor gene that maps to chromosome region Xq28. In 1969, Bode and Crawford suggested that most NDI patients in North America shared common ancestors of Ulster Scot immigrants who arrived in Halifax in 1761 on the ship Hopewell. A link between this family and a large Utah kindred was also suggested. DNA was obtained from 17 affected male patients from the "Hopewell" kindred and from four additional families from Nova Scotia and New Brunswick who shared the same Xq28 NDI haplotype. The Utah kindred and two families (Q2, Q3) from Quebec were also studied. The "Hopewell" mutation, W71X, is a single base substitution (G-->A) that changes codon 71 from TGG (tryptophan) to TGA (stop). The W71X mutation was found in affected members of the Hopewell and of the four satellite families. The W71X mutation is the cause of X-linked NDI for the largest number of related male patients living in North America. Other families (Utah, Q2 and Q3) that are historically and ethnically unrelated bear other mutations in the V2 receptor gene. Images PMID:8104196

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

PubMed

Carpenter, Thomas O; Whyte, Michael P; Imel, Erik A; Boot, Annemieke M; Högler, Wolfgang; Linglart, Agnès; Padidela, Raja; Van't Hoff, William; Mao, Meng; Chen, Chao-Yin; Skrinar, Alison; Kakkis, Emil; San Martin, Javier; Portale, Anthony A

2018-05-24

X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities. We investigated burosumab, a monoclonal antibody that targets FGF-23, in patients with X-linked hypophosphatemia. In an open-label, phase 2 trial, we randomly assigned 52 children with X-linked hypophosphatemia, in a 1:1 ratio, to receive subcutaneous burosumab either every 2 weeks or every 4 weeks; the dose was adjusted to achieve a serum phosphorus level at the low end of the normal range. The primary end point was the change from baseline to weeks 40 and 64 in the Thacher rickets severity total score (ranging from 0 to 10, with higher scores indicating greater disease severity). In addition, the Radiographic Global Impression of Change was used to evaluate rachitic changes from baseline to week 40 and to week 64. Additional end points were changes in pharmacodynamic markers, linear growth, physical ability, and patient-reported outcomes and the incidence of adverse events. The mean Thacher rickets severity total score decreased from 1.9 at baseline to 0.8 at week 40 with every-2-week dosing and from 1.7 at baseline to 1.1 at week 40 with every-4-week dosing (P<0.001 for both comparisons); these improvements persisted at week 64. The mean serum phosphorus level increased after the first dose in both groups, and more than half the patients in both groups had levels within the normal range (3.2 to 6.1 mg per deciliter [1.0 to 2.0 mmol per liter]) by week 6. Stable serum phosphorus levels were maintained through week 64 with every-2-week dosing. Renal tubular phosphate reabsorption increased from baseline in both groups, with an overall mean increase of 0.98 mg per deciliter (0.32 mmol per liter). The mean dose of burosumab at week 40 was 0.98 mg per kilogram of body weight with every-2-week dosing and 1.50 mg per kilogram with every-4-week dosing. Across both

The forensic value of X-linked markers in mixed-male DNA analysis.

PubMed

He, HaiJun; Zha, Lagabaiyila; Cai, JinHong; Huang, Jian

2018-05-04

Autosomal genetic markers and Y chromosome markers have been widely applied in analysis of mixed stains at crime scenes by forensic scientists. However, true genotype combinations are often difficult to distinguish using autosomal markers when similar amounts of DNA are contributed by multiple donors. In addition, specific individuals cannot be determined by Y chromosomal markers because male relatives share the same Y chromosome. X-linked markers, possessing characteristics somewhere intermediate between autosomes and the Y chromosome, are less universally applied in criminal casework. In this paper, X markers are proposed to apply to male mixtures because their true genes can be more easily and accurately recognized than the decision of the genotypes of AS markers. In this study, an actual two-man mixed stain from a forensic case file and simulated male-mixed DNA were examined simultaneously with the X markers and autosomal markers. Finally, the actual mixture was separated successfully by the X markers, although it was unresolved by AS-STRs, and the separation ratio of the simulated mixture was much higher using Chr X tools than with AS methods. We believe X-linked markers provide significant advantages in individual discrimination of male mixtures that should be further applied to forensic work.

A hydroelastic model of hydrocephalus

NASA Astrophysics Data System (ADS)

Smillie, Alan; Sobey, Ian; Molnar, Zoltan

2005-09-01

We combine elements of poroelasticity and of fluid mechanics to construct a mathematical model of the human brain and ventricular system. The model is used to study hydrocephalus, a pathological condition in which the normal flow of the cerebrospinal fluid is disturbed, causing the brain to become deformed. Our model extends recent work in this area by including flow through the aqueduct, by incorporating boundary conditions that we believe accurately represent the anatomy of the brain and by including time dependence. This enables us to construct a quantitative model of the onset, development and treatment of this condition. We formulate and solve the governing equations and boundary conditions for this model and give results that are relevant to clinical observations.

Variation in the X-Linked EFHC2 Gene Is Associated with Social Cognitive Abilities in Males

PubMed Central

Startin, Carla M.; Fiorentini, Chiara; de Haan, Michelle; Skuse, David H.

2015-01-01

Females outperform males on many social cognitive tasks. X-linked genes may contribute to this sex difference. Males possess one X chromosome, while females possess two X chromosomes. Functional variations in X-linked genes are therefore likely to impact more on males than females. Previous studies of X-monosomic women with Turner syndrome suggest a genetic association with facial fear recognition abilities at Xp11.3, specifically at a single nucleotide polymorphism (SNP rs7055196) within the EFHC2 gene. Based on a strong hypothesis, we investigated an association between variation at SNP rs7055196 and facial fear recognition and theory of mind abilities in males. As predicted, males possessing the G allele had significantly poorer facial fear detection accuracy and theory of mind abilities than males possessing the A allele (with SNP variant accounting for up to 4.6% of variance). Variation in the X-linked EFHC2 gene at SNP rs7055196 is therefore associated with social cognitive abilities in males. PMID:26107779

Corpus callosum functioning in patients with normal pressure hydrocephalus before and after surgery.

PubMed

Mataró, Maria; Poca, Maria Antonia; Matarín, Mar; Sahuquillo, Juan; Sebastián, Nuria; Junqué, Carme

2006-05-01

Our aim was to evaluate corpus callosum functioning in a group of patients with normal pressure hydrocephalus (NPH) before and after shunting. Left ear-extinction under a dichotic listening task was evaluated in twenty-three patients with NPH, 30 patients with Alzheimer's disease and 30 aged controls. Patients with NPH had higher levels of left ear extinction than the control and Alzheimer's groups. Sixty-one percent of NPH patients exhibited left ear suppression, compared with 13% of Alzheimer's patients and 17% of controls. Following surgery, NPH patients showed a significant change in the degree of asymmetry in the dichotic listening task. Hydrocephalus was associated with left-ear extinction,which diminished after surgery. Our results may indicate reversible functional damage in the corpus callosum.

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

PubMed

Katz, Bradley J; Zhao, Yu; Warner, Judith E A; Tong, Zongzhong; Yang, Zhenglin; Zhang, Kang

2006-10-15

Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X-linked, mitochondrial, and sporadic forms have also been reported. Four families with X-linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4-Xp11.2 (OPA2). This investigation studied one multi-generation family with an apparently X-linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three-generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20/30 to 20/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot-Marie-Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the XLOA gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the XLOA gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such

Ongoing search for diagnostic biomarkers in idiopathic normal pressure hydrocephalus.

PubMed

Tarnaris, Andrew; Toma, Ahmed K; Kitchen, Neil D; Watkins, Laurence D

2009-12-01

Idiopathic normal pressure hydrocephalus is a syndrome, which typically has a clinical presentation of gait/balance disturbance, often accompanied by cognitive decline and/or urinary incontinence. Its diagnosis is based on relevant history and clinical examination, appropriate imaging findings and physiological testing. The clinical picture of idiopathic normal pressure hydrocephalus may occasionally be difficult to distinguish from that of Alzheimer's dementia, subcortical ischemic vascular dementia and Parkinson's disease. The aim of this article is to systematically review the literature from the last 29 years in order to identify cerebrospinal fluid (CSF) or imaging biomarkers that may aid in the diagnosis of the syndrome. The authors concluded that no CSF or imaging biomarker is currently fulfilling the criteria required to aid in the diagnosis of the condition. However, a few studies have revealed promising CSF and imaging markers that need to be verified by independent groups. The reasons that the progress in this field has been slow so far is also commented on, as well as steps required to apply the current evidence in the design of future studies within the field.

Chiari Malformation and Hydrocephalus Masking Neurocysticercosis.

PubMed

Rajpal, Sharad; Tomberlin, Colson; Bauer, Andrew; Forsythe, Robert C; Burneikiene, Sigita

2018-06-01

Various diagnostic characteristics associated with neurocysticercosis have been well studied; however, their potential to be implicated in other differential diagnoses has not been well demonstrated. We report the case of a 55-year-old Hispanic man who underwent a Chiari decompression surgery, which was complicated with hydrocephalus. Despite a ventriculoperitoneal shunt placement, he continued to have headaches and was soon found to have several skull base subarachnoid lesions, which were later diagnosed as the sequelae of an active neurocysticercosis infection. This case report highlights the importance of overlapping symptoms between diseases in a short temporal context. Copyright © 2018 Elsevier Inc. All rights reserved.

Normal Pressure Hydrocephalus: Diagnosis and Treatment

PubMed Central

Shprecher, David; Schwalb, Jason; Kurlan, Roger

2009-01-01

Normal pressure hydrocephalus (NPH) is a syndrome of gait dysfunction and enlarged cerebral ventricles in the absence of another cause. It is frequently accompanied by frontal and subcortical cognitive deficits and bladder detrusor overactivity. NPH is rare relative to other potential causes of these symptoms in the elderly, but timely diagnosis can lead to reversal of symptoms through ventricular shunting. There are many tests used to predict possible response to surgery, such as MRI of the brain, formalized neuropsychological and gait testing, large-volume lumbar puncture, and prolonged lumbar drainage, but no one test has been validated to rule out potential response to surgery. PMID:18713572

The Management and Education of Children with Spina Bifida and Hydrocephalus.

ERIC Educational Resources Information Center

Andrews, Robert J.; Elkins, John

The report describes the population of children in Australia with spina bifida and/or hydrocephalus, notes their needs and characteristics, reviews their school placement and social circumstances, and considers future educational services for them. Initial chapters review the literature on medical, psychoeducational, and social-family aspects of…

Lower incidence of reoperation with longer shunt survival with adult ventriculoperitoneal shunts placed for hemorrhage-related hydrocephalus.

PubMed

Hoh, Brian L; Lang, Shih-Shan; Ortiz, Michael V; Chi, Yueh-Yun; Lewis, Stephen B; Pincus, David W

2008-07-01

The incidence of reoperation for ventriculoperitoneal shunts (VPS) in adults, although lower than in pediatric patients, is not insignificant. We hypothesize that adult VPS placed for hemorrhage-related hydrocephalus have a lower incidence of reoperation than those placed for other types of hydrocephalus. We retrospectively reviewed all adult (>/= 20 yr) VPS initially placed from February 2001 to August 2006 at the University of Florida. We determined the incidence and time interval to reoperation. Follow-up was conducted by telephone interview and review of medical records. A total of 286 adult VPS were initially placed: 96 (34%) hemorrhage and 190 (66%) nonhemorrhage. A total of 15 (16%) hemorrhage patients underwent 22 shunt reoperations, compared with 50 (27%) nonhemorrhage patients who underwent 82 shunt reoperations (P = 0.0316). A Poisson regression analysis of the number of reoperations, factoring hemorrhage, age, and sex, demonstrated a significantly lower incidence of reoperation in hemorrhage patients (P = 0.0900). A Cox proportional hazards model analysis of time to first reoperation, factoring hemorrhage, age, and sex, demonstrated a significantly longer shunt survival in hemorrhage patients (P = 0.0404). Adult VPS placed for hemorrhage-related hydrocephalus have a significantly lower incidence of reoperation and significantly longer shunt survival. This result may be related to an incidence of transient shunt dependency in patients with hemorrhage-related hydrocephalus. However, the precise mechanism remains unclear.

Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus.

PubMed

Liang, Jie; Wu, Weifei; Ru, Neng; Chen, Jianfeng

2017-01-01

The syrinx can occur in any region of the spinal cord and is common in cervical and/or thoracic region, and distributing along spinal cord is unusual, especially association with Chiari II malformation and scoliosis. To report a first case of entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. The patient began to experience symptoms of bilateral hand weakness in adulthood. In this patient, MR imaging of the brain and spine showed syrinx along entire spine and hydrocephalus, cerebellar tonsillar herniation, and expansion of the fourth ventricle and posterior cranial fossa. The patient underwent operative treatment to prevent the progression of her neurological deficit. At 12 months' follow-up, the patient's neurological deficit remains stable with the scoliosis left untreated. Foramen magnum decompression, duraplasty and syrinx-shunting are effective methods even to CM II and entire syrinx.

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Allen, R.C.; Nachtman, R.G.; Belmont, J.W.

Bruton X-linked agammaglobulinemia (XLA) is a phenotypically recessive genetic disorder of B lymphocyte development. Female carriers of XLA, although asymptomatic, have a characteristic B cell lineage-specific skewing of the pattern of X inactivation. Skewing apparently results from defective growth and maturation of B cell precursors bearing a mutant active X chromosome. In this study, carrier status was tested in 58 women from 22 families referred with a history of agammaglobulinemia. Primary carrier analysis to examine patterns of X inactivation in CD19[sup +] peripheral blood cells (B lymphocytes) was conducted using quantitative PCR at the androgen-receptor locus. Obligate carriers of XLAmore » demonstrated >95% skewing of X inactivation in peripheral blood CD19[sup +] cells but not in CD19[sup [minus

Armored brain in patients with hydrocephalus after shunt surgery: review of the literatures.

PubMed

Taha, Mahmoud M

2012-01-01

Armored brain or chronic calcified subdural hematoma is a rare complication of cerebrospinal fluid diversion with few cases reported in the literature. Seventeen patients with this pathology have been published. A complete review of the literatures regarding this topic has been collected and discussed. The author also presents a 12- year old boy with triventricular hydrocephalus who had undergone ventriculoperitoneal medium pressure shunt system since birth. The patient presented to our clinic with a 2-year history of seizures. The patient was conscious and without neurological deficits on examination. Computed tomography of the brain showed bilateral high density mass with surface calcification. X ray skull and MRI confirmed the calcified subdural hematoma bilaterally. We preferred conservative treatment and the patient continued his antiepileptic treatment. At one year follow up, the patient had the same neurological state. The case highlights the importance of frequent follow up CT brain after shunt surgery.

Cervical spine disease may result in a negative lumbar spinal drainage trial in normal pressure hydrocephalus: case report.

PubMed

Komotar, Ricardo J; Zacharia, Brad E; Mocco, J; Kaiser, Michael G; Frucht, Stephen J; McKhann, Guy M

2008-10-01

In this case report, we present a patient with normal pressure hydrocephalus in whom a lumbar drainage trial yielded a false-negative result secondary to cervical spondylosis. An 80-year-old woman presented with classic symptoms of normal pressure hydrocephalus as well as evidence of cervical myelopathy. Magnetic resonance imaging of the brain and spine showed enlarged ventricles and single-level cervical canal narrowing. An initial lumbar drainage trial was performed, which revealed negative results. The patient then underwent cervical decompression and fusion. Despite this procedure, the patient's symptoms continued to worsen. A repeat lumbar drainage trial was performed with positive results. Subsequently, a ventriculoperitoneal shunt was placed, resulting in significant improvement of her symptoms. This case report illustrates how altered cerebrospinal fluid flow dynamics may impact the accuracy of the lumbar spinal drainage trial in patients with normal pressure hydrocephalus.

Meiotic drive impacts expression and evolution of x-linked genes in stalk-eyed flies.

PubMed

Reinhardt, Josephine A; Brand, Cara L; Paczolt, Kimberly A; Johns, Philip M; Baker, Richard H; Wilkinson, Gerald S

2014-01-01

Although sex chromosome meiotic drive has been observed in a variety of species for over 50 years, the genes causing drive are only known in a few cases, and none of these cases cause distorted sex-ratios in nature. In stalk-eyed flies (Teleopsis dalmanni), driving X chromosomes are commonly found at frequencies approaching 30% in the wild, but the genetic basis of drive has remained elusive due to reduced recombination between driving and non-driving X chromosomes. Here, we used RNAseq to identify transcripts that are differentially expressed between males carrying either a driving X (XSR) or a standard X chromosome (XST), and found hundreds of these, the majority of which are X-linked. Drive-associated transcripts show increased levels of sequence divergence (dN/dS) compared to a control set, and are predominantly expressed either in testes or in the gonads of both sexes. Finally, we confirmed that XSR and XST are highly divergent by estimating sequence differentiation between the RNAseq pools. We found that X-linked transcripts were often strongly differentiated (whereas most autosomal transcripts were not), supporting the presence of a relatively large region of recombination suppression on XSR presumably caused by one or more inversions. We have identified a group of genes that are good candidates for further study into the causes and consequences of sex-chromosome drive, and demonstrated that meiotic drive has had a profound effect on sequence evolution and gene expression of X-linked genes in this species.

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

PubMed Central

Jonsson, J J; Renieri, A; Gallagher, P G; Kashtan, C E; Cherniske, E M; Bruttini, M; Piccini, M; Vitelli, F; Ballabio, A; Pober, B R

1998-01-01

We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; red cell membrane stability and rigidity was normal on ektacytometry. Molecular characterisation suggests a submicroscopic X chromosome deletion encompassing the entire COL4A5 gene. We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome. Images PMID:9598718

[Idiopathic normal pressure hydrocephalus: High incidence in people over 80 years of age].

PubMed

Aragonès, Josep Maria; Altimiras, Jacint; Alonso, Francisco; Roura, Pere; Alfonso, Sebastián; Bajo, Lorena

Idiopathic normal pressure hydrocephalus is usually observed in adults over 60 years of age. The highest incidence of cases is between 70 and 80 years-old, and it could be under-diagnosed in over 80 year-olds. A description is presented on the overall incidence and age group incidence, the delay in the diagnosis, and main outcomes. A descriptive study was performed on patients with idiopathic normal pressure hydrocephalus, in the population of Osona County during the years 2010-2015. The annual incidence rate was 4.43 per 100,000 inhabitants. The incidence increased with age; from 8.09 per 100,000 in the 60 to 69 years age group, to 23.61 per 100,000 in the 70-79 years age group of, and to 37.02 per 100,000 in the 80-89 years age. The delay in the diagnosis was 15.01 ± 10.35 months. All the patients improved after surgery, but only 73.3% of the patients maintained the improvement after one year. Idiopathic normal pressure hydrocephalus is an age related disease and probably underdiagnosed in the elderly. An early diagnosis and a clinical suspicion are essential in patients over 80 years old. Copyright © 2017 SEGG. Publicado por Elsevier España, S.L.U. All rights reserved.

Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

PubMed

Russell-Eggitt, I M

2000-12-01

When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

PubMed

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

DOE Office of Scientific and Technical Information (OSTI.GOV)

Aldred, M.A.; Dry, K.L.; Hardwick, L.J.

1994-11-01

A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538more » and 5{prime}-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified. 33 refs., 2 figs., 2 tabs.« less

Changes in Rat Brain Tissue Microstructure and Stiffness during the Development of Experimental Obstructive Hydrocephalus

PubMed Central

Jugé, Lauriane; Pong, Alice C.; Bongers, Andre; Sinkus, Ralph; Bilston, Lynne E.; Cheng, Shaokoon

2016-01-01

Understanding neural injury in hydrocephalus and how the brain changes during the course of the disease in-vivo remain unclear. This study describes brain deformation, microstructural and mechanical properties changes during obstructive hydrocephalus development in a rat model using multimodal magnetic resonance (MR) imaging. Hydrocephalus was induced in eight Sprague-Dawley rats (4 weeks old) by injecting a kaolin suspension into the cisterna magna. Six sham-injected rats were used as controls. MR imaging (9.4T, Bruker) was performed 1 day before, and at 3, 7 and 16 days post injection. T2-weighted MR images were collected to quantify brain deformation. MR elastography was used to measure brain stiffness, and diffusion tensor imaging (DTI) was conducted to observe brain tissue microstructure. Results showed that the enlargement of the ventricular system was associated with a decrease in the cortical gray matter thickness and caudate-putamen cross-sectional area (P < 0.001, for both), an alteration of the corpus callosum and periventricular white matter microstructure (CC+PVWM) and rearrangement of the cortical gray matter microstructure (P < 0.001, for both), while compression without gross microstructural alteration was evident in the caudate-putamen and ventral internal capsule (P < 0.001, for both). During hydrocephalus development, increased space between the white matter tracts was observed in the CC+PVWM (P < 0.001), while a decrease in space was observed for the ventral internal capsule (P < 0.001). For the cortical gray matter, an increase in extracellular tissue water was significantly associated with a decrease in tissue stiffness (P = 0.001). To conclude, this study characterizes the temporal changes in tissue microstructure, water content and stiffness in different brain regions and their association with ventricular enlargement. In summary, whilst diffusion changes were larger and statistically significant for majority of the brain regions studied

Fibrinolytic agents in the management of posthemorrhagic hydrocephalus in preterm infants: the evidence.

PubMed

Haines, S J; Lapointe, M

1999-05-01

The objective of this study was to review current literature on the management of posthemorrhagic hydrocephalus in preterm infants with intraventricular administration of fibrinolytic agents; to this end a literature search was carried out electronically. The keywords used were "intraventricular hemorrhage" or "posthemorrhagic hydrocephalus" in combination with "fibrinolytic agent," "urokinase," "streptokinase," or "recombinant tissue plasminogen activator" and "intraventricular administration"; the search covered the years 1966-1998 and was restricted to English language papers and human subjects. It was supplemented by a search through the reference lists of the articles identified. Articles dealing with intracerebral hemorrhage or hematoma, intraventricular hemorrhage in adults, nontherapeutic issues and laboratory research were excluded. The articles included are summarized in evidence and evaluation tables. Five scientific publications evaluating the use of a fibrinolytic agent to manage posthemorrhagic hydrocephalus were retrieved. In the studies described in these reports, a total of 62 neonates received streptokinase, urokinase or r-tPA intraventricularly. No two of the regimens were identical in the drug used, method of administration and duration of therapy. The time before therapy was started ranged from 2 to 35 days after the ictus. Among the case series reported, three were small series with a total of 38 neonates. One other case series of 18 neonates compared the treatment group with an historical control group. All case series showed that endoventricular fibrinolytic therapy was practical. The proportion of cases in which shunt placement was performed ranged from 11% to 100%. Only one small prospective, randomized, controlled study was identified. That study was too small to allow useful conclusions. Overall, 3 cases of secondary intraventricular hemorrhage were reported. However, it was not possible to determine with certainty whether these episodes

[Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion].

PubMed

Shi, Hui-juan; Fang, Qun; Wang, Lian-tang

2005-07-13

To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia (EDA) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder. Pedigree analysis and genetic counseling were performed in a family after a proband was diagnosed with EDA. The peripheral blood samples were collected from the proband, a 12-year-old boy, his mother, and his 2 aunts, one being pregnant, to undergo chromosome karyotype analysis. The fetus Puncture of umbilical vein was performed to collect the blood of fetus for chromosome examination. Induced abortion was conducted due to the diagnosis of the fetus with EDA. Autopsy, immunohistochemistry of the skin tissues of face, breast, epigastrium, and thigh, and X-ray photography of the lower jawbone were made. Pericentric inversion occurring at one of the X-chromosome [inv (x) (p22q13)] was found in the proband and his nephew (the fetus), both patients, and his mother and his second aunt (the pregnant woman), both carriers. Autopsy of the fetus showed epidermis dysplasia and deficiency of hair follicle and sebaceous gland. Immunohistochemistry showed that epithelial membrane antigen and cytokeratin were negatively expressed in the fetal skin tissues. Pedigree analysis and genetic counseling for the family members of EDA patients and prenatal and postpartum examination for the fetus help diagnose EDA.

A Complex Genetic Basis to X-Linked Hybrid Male Sterility Between Two Species of House Mice

PubMed Central

Good, Jeffrey M.; Dean, Matthew D.; Nachman, Michael W.

2008-01-01

The X chromosome plays a central role in the evolution of reproductive isolation, but few studies have examined the genetic basis of X-linked incompatibilities during the early stages of speciation. We report the results of a large experiment focused on the reciprocal introgression of the X chromosome between two species of house mice, Mus musculus and M. domesticus. Introgression of the M. musculus X chromosome into a wild-derived M. domesticus genetic background produced male-limited sterility, qualitatively consistent with previous experiments using classic inbred strains to represent M. domesticus. The genetic basis of sterility involved a minimum of four X-linked factors. The phenotypic effects of major sterility QTL were largely additive and resulted in complete sterility when combined. No sterility factors were uncovered on the M. domesticus X chromosome. Overall, these results revealed a complex and asymmetric genetic basis to X-linked hybrid male sterility during the early stages of speciation in mice. Combined with data from previous studies, we identify one relatively narrow interval on the M. musculus X chromosome involved in hybrid male sterility. Only a handful of spermatogenic genes are within this region, including one of the most rapidly evolving genes on the mouse X chromosome. PMID:18689897

A complex genetic basis to X-linked hybrid male sterility between two species of house mice.

PubMed

Good, Jeffrey M; Dean, Matthew D; Nachman, Michael W

2008-08-01

The X chromosome plays a central role in the evolution of reproductive isolation, but few studies have examined the genetic basis of X-linked incompatibilities during the early stages of speciation. We report the results of a large experiment focused on the reciprocal introgression of the X chromosome between two species of house mice, Mus musculus and M. domesticus. Introgression of the M. musculus X chromosome into a wild-derived M. domesticus genetic background produced male-limited sterility, qualitatively consistent with previous experiments using classic inbred strains to represent M. domesticus. The genetic basis of sterility involved a minimum of four X-linked factors. The phenotypic effects of major sterility QTL were largely additive and resulted in complete sterility when combined. No sterility factors were uncovered on the M. domesticus X chromosome. Overall, these results revealed a complex and asymmetric genetic basis to X-linked hybrid male sterility during the early stages of speciation in mice. Combined with data from previous studies, we identify one relatively narrow interval on the M. musculus X chromosome involved in hybrid male sterility. Only a handful of spermatogenic genes are within this region, including one of the most rapidly evolving genes on the mouse X chromosome.

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gedeon, A.K.; Mulley, J.C.; Kozman, H.

1994-08-01

X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous amyloidosis (MIM No. 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localized by linkage analysis to Xp21-p22. The background geneticmore » map is Xpter-DXS996-22.5-DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3`DMD-3.5-DXS997-1.0-STR44-9.3-DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localization. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at {theta} = 0.0 were obtained between PDR and DXS989 and between PDR and 5`DYSI within the dystrophin locus. 29 refs., 2 figs., 2 tabs.« less

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

PubMed

Abdelhamed, Zakia; Vuong, Shawn M; Hill, Lauren; Shula, Crystal; Timms, Andrew; Beier, David; Campbell, Kenneth; Mangano, Francesco T; Stottmann, Rolf W; Goto, June

2018-01-09

Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 ( Ccdc39 ) is responsible for early postnatal hydrocephalus in the progressive hydrocephal us ( prh ) mouse mutant. Ccdc39 is selectively expressed in embryonic choroid plexus and ependymal cells on the medial wall of the forebrain ventricle, and the protein is localized to the axoneme of motile cilia. The Ccdc39 prh/prh ependymal cells develop shorter cilia with disorganized microtubules lacking the axonemal inner arm dynein. Using high-speed video microscopy, we show that an orchestrated ependymal ciliary beating pattern controls unidirectional CSF flow on the ventricular surface, which generates bulk CSF flow in the developing brain. Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development. © 2018. Published by The Company of Biologists Ltd.

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome

PubMed Central

Siew, Wei-Hong; Tan, Kai-Leng; Babaei, Maryam Abbaspour; Cheah, Pike-See; Ling, King-Hwa

2013-01-01

Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, the causative mechanism of ID is unknown and the progression of the condition is poorly understood. Advancement in technology and research had identified various genetic abnormalities and defects as the potential cause of ID. However, the link between these abnormalities with ID is remained inconclusive and the roles of many newly discovered genetic components such as non-coding RNAs have not been thoroughly investigated. In this review, we aim to consolidate and assimilate the latest development and findings on a class of small non-coding RNAs known as microRNAs (miRNAs) involvement in ID development and progression with special focus on Down syndrome (DS) and X-linked ID (XLID) [including Fragile X syndrome (FXS)]. PMID:23596395

Rectification of pulsatile stress on soft tissues: a mechanism for normal-pressure hydrocephalus

NASA Astrophysics Data System (ADS)

Jalikop, Shreyas; Hilgenfeldt, Sascha

2011-11-01

Hydrocephalus is a pathological condition of the brain that occurs when cerebrospinal fluid (CSF) accumulates excessively in the brain cavities, resulting in compression of the brain parenchyma. Counter-intuitively, normal-pressure hydrocephalus (NPH) does not show elevated pressure differences across the compressed parenchyma. We investigate the effects of nonlinear tissue mechanics and periodic driving in this system. The latter is due to the cardiac cycle, which provides significant intracranial pressure and volume flow rate fluctuations. Nonlinear rectification of the periodic driving within a model of fluid flow in poroelastic material can lead to compression or expansion of the parenchyma, and this effect does not rely on changes in the mean intracranial pressure. The rectification effects can occur gradually over several days, in agreement with clinical studies of NPH.

Effects of Aerobic Capacity on Thrombin-Induced Hydrocephalus and White Matter Injury.

PubMed

Ni, Wei; Gao, Feng; Zheng, Mingzhe; Koch, Lauren G; Britton, Steven L; Keep, Richard F; Xi, Guohua; Hua, Ya

2016-01-01

We have previously shown that intracerebral hemorrhage-induced brain injury is less in rats bred for high aerobic capacity (high capacity runners; HCR) compared with those bred for low aerobic capacity (low capacity runners; LCRs). Thrombin, an essential component in the coagulation cascade, is produced after cerebral hemorrhage. Intraventricular injection of thrombin causes significant hydrocephalus and white matter damage. In the present study, we examined the effect of exercise capacity on thrombin-induced hydrocephalus and white matter damage. Mid-aged (13-month-old) female LCRs (n = 13) and HCRs (n = 12) rats were used in this study. Rats received an intraventricular injection of thrombin (3 U, 50 μl). All rats underwent magnetic resonance imaging (MRI) at 24 h and were then euthanized for brain histology and Western blot. The mortalities were 20 % in LCRs and 33 % in HCRs after thrombin injection (p > 0.05). No rats died after saline injection. Intraventricular thrombin injection resulted in hydrocephalus and periventricular white matter damage as determined on MRI. In LCR rats, thrombin induced significant ventricle enlargement (23.0 ± 2.3 vs12.8 ± 1.9 mm(3) in LCR saline group; p < 0.01) and white matter lesion (9.3 ± 7.6 vs 0.6 ± 0.5 mm(3) in LCR saline group, p < 0.05). In comparison, in HCR rats thrombin induced less ventricular enlargement (17.3 ± 3.9 vs 23.0 ± 2.3 mm(3) in LCRs, p < 0.01) and smaller white matter lesions (2.6 ± 1.2 mm(3) vs 9.3 ± 7.6 mm(3) in LCRs, p < 0.05). In LCR rats, there was also upregulation of heat shock protein-32, a stress marker, and microglial activation in the periventricular white matter. These changes were significantly reduced in HCR rats. Intraventricular injection of thrombin caused more white matter damage and hydrocephalus in rats with low aerobic capacity. A differential effect of thrombin may contribute to differences in the effects of cerebral

Increased CSF aquaporin-4, and interleukin-6 levels in dogs with idiopathic communicating internal hydrocephalus and a decrease after ventriculo-peritoneal shunting.

PubMed

Schmidt, Martin J; Rummel, Christoph; Hauer, Jessica; Kolecka, Malgorzata; Ondreka, Nele; McClure, Vanessa; Roth, Joachim

2016-06-29

Studies in animal models, in which internal hydrocephalus has been induced by obstructing the cerebrospinal fluid pathways, have documented an up-regulation of the concentrations of aquaporin-4 (AQP4) in the brain. In this study, the concentrations of aquaporin-1 (AQP1), AQP1, AQP4 and interleukin-6 (IL-6) were determined in the CSF of dogs with idiopathic communicating hydrocephalus before and after the reduction of intraventricular volume following ventriculo-peritoneal shunt (VP-shunt) treatment. The concentrations of AQP4 and IL-6 were increased in the cerebrospinal fluid of dogs with hydrocephalus compared to controls. Both parameters significantly decreased after surgical treatment, accompanied by decrease of ventricular size and the clinical recovery of the dogs. AQP1 was not detectable in CSF. Brain AQP4 up-regulation might be a compensatory response in dogs with hydrocephalus. Future determination of AQP4 at the mRNA and protein level in brain tissue is warranted to substantiate this hypothesis.

Novel Application of Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging for Diagnosis of External Hydrocephalus.

PubMed

Nakae, Shunsuke; Murayama, Kazuhiro; Adachi, Kazuhide; Kumai, Tadashi; Abe, Masato; Hirose, Yuichi

2018-01-01

Although a subdural fluid collection frequently is observed, diagnostic methods that differentiate between the subdural collection caused by external hydrocephalus and that caused by subdural hygroma have not been established. Here, we report a case of external hydrocephalus caused by Gliadel-induced eosinophilic meningitis that has been previously reported in only 1 case and can be diagnosed by time-spatial labeling inversion pulse magnetic resonance imaging (time-SLIP MRI). A tumor located in the left temporal was detected incidentally in an 81-year-old man by examination of a head injury. The tumor was surgically resected and diagnosed as a high-grade glioma during the surgery; Gliadel wafers subsequently were implanted. Three weeks after the resection, the patient showed disturbed consciousness, and computed tomography revealed a subdural fluid collection. The out-flow of cerebrospinal through the resection cavity was detected by time-SLIP MRI. Cerebrospinal tests indicated high white blood cell counts and high protein levels, with more than 90% of the white blood cell count comprising eosinophils. Therefore, we suspected that the subdural fluid collection was caused by external hydrocephalus because of Gliadel-induced eosinophilic meningitis. We surgically removed the Gliadel wafers and subsequently performed a surgery to insert a ventriculoperitoneal shunt. Histologic examination indicated eosinophilic accumulation around the Gliadel wafers. The patient's symptoms improved after the insertion of a ventriculoperitoneal shunt. In the present case, time-SLIP MRI was a useful and noninvasive method for diagnosing external hydrocephalus which was caused by eosinophilic meningitis because of Gliadel-induced eosinophilic meningitis. Copyright © 2017 Elsevier Inc. All rights reserved.

Armored brain in a young girl with a syndromal hydrocephalus.

PubMed

Viozzi, Ilaria; van Baarsen, Kirsten; Grotenhuis, André

2017-01-01

The authors present a case of a young girl affected by a syndromal hydrocephalus who developed a bilateral ossified chronic subdural hematoma with the typical radiological appearance of "the armored brain". Bilateral calcified chronic subdural hematoma is a rare complication of ventriculoperitoneal shunt. There is controversy in the treatment, but most published literature discourages a surgical intervention to remove the calcifications.

Design of a sustainable prepolarizing magnetic resonance imaging system for infant hydrocephalus.

PubMed

Obungoloch, Johnes; Harper, Joshua R; Consevage, Steven; Savukov, Igor M; Neuberger, Thomas; Tadigadapa, Srinivas; Schiff, Steven J

2018-04-11

The need for affordable and appropriate medical technologies for developing countries continues to rise as challenges such as inadequate energy supply, limited technical expertise, and poor infrastructure persist. Low-field magnetic resonance imaging (LF MRI) is a technology that can be tailored to meet specific imaging needs within such countries. Its low power requirements and the possibility of operating in minimally shielded or unshielded environments make it especially attractive. Although the technology has been widely demonstrated over several decades, it is yet to be shown that it can be diagnostic and improve patient outcomes in clinical applications. We here demonstrate the robustness of prepolarizing MRI (PMRI) technology for assembly and deployment in developing countries for the specific application to infant hydrocephalus. Hydrocephalus treatment planning and management requires only modest spatial resolution, such that the brain can be distinguished from fluid-tissue contrast detail within the brain parenchyma is not essential. We constructed an internally shielded PMRI system based on the Lee-Whiting coil system with a 22-cm diameter of spherical volume. In an unshielded room, projection phantom images were acquired at 113 kHz with in-plane resolution of 3 mm × 3 mm, by introducing gradient fields of sufficient magnitude to dominate the 5000 ppm inhomogeneity of the readout field. The low cost, straightforward assembly, deployment potential, and maintenance requirements demonstrate the suitability of our PMRI system for developing countries. Further improvement in image spatial resolution and contrast of LF MRI will broaden its potential clinical utility beyond hydrocephalus.

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

PubMed

Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco

2015-12-01

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

Relationship of new-onset systemic hypertension and normal pressure hydrocephalus.

PubMed

Mysiw, W J; Jackson, R D

1990-01-01

Communicating normal pressure hydrocephalus (NPH) is an important remote complication of traumatic brain injury (TBI). The diagnosis of this hydrocephalus depends largely on clinical signs and symptoms, including cognitive deterioration, gait changes and incontinence. However, many of these signs are also seen during post-traumatic amnesia, making early recognition of this syndrome difficult. A case study of one man post-TBI, who presented with new-onset hypertension as a sign of NPH, prompted a retrospective chart review of all patients admitted over a 2-year period with a diagnosis of NPH. Ninety per cent of patients had one or more of the classic triad of NPH and 25% of patients had symptoms suggestive of raised intracranial pressure (unexplained nausea, headache and visual disturbance). Mean systolic and diastolic blood pressures among the 20 subjects for six consecutive days pre-operatively compared with those for days 8-14 and 15-21 post-operatively showed no significant differences; a subgroup of five patients (25%), however, demonstrated a significant change in blood pressure temporally related to shunting. We suggest that demonstration of new-onset systemic hypertension may also be a clinical sign suggestive of NPH useful in the evaluation of the TBI patient.

Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.

PubMed

Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E

1994-07-15

The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.

Assessing interethnic admixture using an X-linked insertion-deletion multiplex.

PubMed

Ribeiro-Rodrigues, Elzemar Martins; dos Santos, Ney Pereira Carneiro; dos Santos, Andrea Kely Campos Ribeiro; Pereira, Rui; Amorim, António; Gusmão, Leonor; Zago, Marco Antonio; dos Santos, Sidney Emanuel Batista

2009-01-01

In this study, a PCR multiplex was optimized, allowing the simultaneous analysis of 13 X-chromosome Insertion/deletion polymorphisms (INDELs). Genetic variation observed in Africans, Europeans, and Native Americans reveals high inter-population variability. The estimated proportions of X-chromosomes in an admixed population from the Brazilian Amazon region show a predominant Amerindian contribution (approximately 41%), followed by European (approximately 32%) and African (approximately 27%) contributions. The proportion of Amerindian contribution based on X-linked data is similar to the expected value based on mtDNA and Y-chromosome information. The accuracy for assessing interethnic admixture, and the high differentiation between African, European, and Native American populations, demonstrates the suitability of this INDEL set to measure ancestry proportions in three-hybrid populations, as it is the case of Latin American populations.

The value of early and comprehensive diagnoses in a human fetus with hydrocephalus and progressive obliteration of the aqueduct of Sylvius: Case Report.

PubMed

Ortega, Eduardo; Muñoz, Rosa I; Luza, Nelly; Guerra, Francisco; Guerra, Monserrat; Vio, Karin; Henzi, Roberto; Jaque, Jaime; Rodriguez, Sara; McAllister, James P; Rodriguez, Esteban

2016-04-11

Mutant rodent models have highlighted the importance of the ventricular ependymal cells and the subcommissural organ (a brain gland secreting glycoproteins into the cerebrospinal fluid) in the development of fetal onset hydrocephalus. Evidence indicates that communicating and non-communicating hydrocephalus can be two sequential phases of a single pathological phenomenon triggered by ependymal disruption and/or abnormal function of the subcommissural organ. We have hypothesized that a similar phenomenon may occur in human cases with fetal onset hydrocephalus. We report here on a case of human fetal communicating hydrocephalus with no central nervous system abnormalities other than stenosis of the aqueduct of Sylvius (SA) that became non-communicating hydrocephalus during the first postnatal week due to obliteration of the cerebral aqueduct. The case was followed closely by a team of basic and clinic investigators allowing an early diagnosis and prediction of the evolving pathophysiology. This information prompted neurosurgeons to perform a third ventriculostomy at postnatal day 14. The fetus was monitored by ultrasound, computerized axial tomography and magnetic resonance imaging (MRI). After birth, the follow up was by MRI, electroencephalography and neurological and neurocognitive assessments. Cerebrospinal fluid (CSF) collected at surgery showed abnormalities in the subcommissural organ proteins and the membrane proteins L1-neural cell adhesion molecule and aquaporin-4. The neurological and neurocognitive assessments at 3 and 6 years of age showed neurological impairments (epilepsy and cognitive deficits). (1) In a hydrocephalic fetus, a stenosed SA can become obliterated at perinatal stages. (2) In the case reported, a close follow up of a communicating hydrocephalus detected in utero allowed a prompt postnatal surgery aiming to avoid as much brain damage as possible. (3) The clinical and pathological evolution of this patient supports the possibility that the

A systematic review of the risks factors associated with the onset and natural progression of hydrocephalus.

PubMed

Walsh, Stephanie; Donnan, Jennifer; Morrissey, Andrea; Sikora, Lindsey; Bowen, Sonya; Collins, Kayla; MacDonald, Don

2017-07-01

The purpose of this study was to systematically assess and synthesize the world literature on risk factors for the onset and natural progression of hydrocephalus, thereby providing a basis for policy makers to identify appropriate risk management measures to mitigate the burden of disease in Canada. Evidence for risk factors was limited for both onset and progression. Two meta-analyses that examined a risk factor for onset met the inclusion criteria. One found a significant protective effect of prenatal vitamins among case control studies, but not cohort/randomized controlled trials (RCTs). The second found maternal obesity to be a significant risk factor for congenital hydrocephalus. Significant risk factors among 25 observational studies included: biological (multiple births, maternal parity, common cold with fever, maternal thyroid disease, family history, preterm birth, hypertension, ischemic heart disease, ischemic ECG changes, higher cerebrospinal fluid protein concentration following vestibular schwannoma); lifestyle (maternal obesity, high-density lipoprotein (HDL) cholesterol, maternal diabetes, maternal age), healthcare-related (caesarean section, interhospital transfer, drainage duration following subarachnoid hemorrhage, proximity to midline for craniectomy following traumatic brain injury); pharmaceutical (prenatal exposure to: tribenoside, metronidazole, anesthesia, opioids); and environmental (altitude, paternal occupation). Three studies reported on genetic risk factors: no significant associations were found. There are major gaps in the literature with respect to risk factors for the natural progression of hydrocephalus. Only two observational studies were included and three factors reported. Many risk factors for the onset of hydrocephalus have been studied; for most, evidence remains limited or inconclusive. More work is needed to confirm any causal associations and better inform policy. Copyright © 2016. Published by Elsevier B.V.

The rapid evolution of X-linked male-biased gene expression and the large-X effect in Drosophila yakuba, D. santomea, and their hybrids.

PubMed

Llopart, Ana

2012-12-01

The X chromosome has a large effect on hybrid dysfunction, particularly on hybrid male sterility. Although the evidence for this so-called large-X effect is clear, its molecular causes are not yet fully understood. One possibility is that, under certain conditions, evolution proceeds faster in X-linked than in autosomal loci (i.e., faster-X effect) due to both natural selection and their hemizygosity in males, an effect that is expected to be greatest in genes with male-biased expression. Here, I study genome-wide variation in transcript abundance between Drosophila yakuba and D. santomea, within these species and in their hybrid males to evaluate both the faster-X and large-X effects at the level of expression. I find that in X-linked male-biased genes (MBGs) expression evolves faster than in their autosomal counterparts, an effect that is accompanied by a unique reduction in expression polymorphism. This suggests that Darwinian selection is driving expression differences between species, likely enhanced by the hemizygosity of the X chromosome in males. Despite the recent split of the two sister species under study, abundant changes in both cis- and trans-regulatory elements underlie expression divergence in the majority of the genes analyzed, with significant differences in allelic ratios of transcript abundance between the two reciprocal F(1) hybrid males. Cis-trans coevolution at molecular level, evolved shortly after populations become isolated, may therefore contribute to explain the breakdown of the regulation of gene expression in hybrid males. Additionally, the X chromosome plays a large role in this hybrid male misexpression, which affects not only MBG but also, to a lesser degree, nonsex-biased genes. Interestingly, hybrid male misexpression is concentrated mostly in autosomal genes, likely facilitated by the rapid evolution of sex-linked trans-acting factors. I suggest that the faster evolution of X-linked MBGs, at both protein and expression levels

Ventriculoperitoneal shunt for treatment of hydrocephalus in a French bulldog puppy

PubMed Central

Giacinti, Jolene A.

2016-01-01

A 6.5-week-old bulldog was presented with lethargy, anorexia, and stunted growth. A domed skull, ventrolateral strabismus, hypermetria, and delayed hopping were observed. Congenital hydrocephalus was diagnosed and a ventriculoperitoneal shunt was placed. After surgery, a shunt obstruction occurred but resolved with treatment. The puppy responded well and neurological deficits continued to improve after surgery. PMID:26933271

Cerebellar syndrome with hydrocephalus due to Mycoplasma pneumoniae infection.

PubMed Central

Coleman, R. J.; Brown, J. S.; Butler, P.; Swash, M.

1990-01-01

A 27 year old woman developed a cerebellar syndrome with serological evidence of recent Mycoplasma pneumoniae infection. The cranial computed tomographic scan showed effacement of the fourth ventricle, enhancement of the basal meninges and hydrocephalus affecting the lateral and third ventricles. Clinical and radiological recovery occurred over 5 weeks. We propose that this was a manifestation of immune-mediated encephalomyelitis induced by the infection rather than direct invasion of the central nervous system. Images Figure 1 PMID:2217014

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

PubMed

Lagresle-Peyrou, Chantal; Luce, Sonia; Ouchani, Farid; Soheili, Tayebeh Shabi; Sadek, Hanem; Chouteau, Myriam; Durand, Amandine; Pic, Isabelle; Majewski, Jacek; Brouzes, Chantal; Lambert, Nathalie; Bohineust, Armelle; Verhoeyen, Els; Cosset, François-Loïc; Magerus-Chatinet, Aude; Rieux-Laucat, Frédéric; Gandemer, Virginie; Monnier, Delphine; Heijmans, Catherine; van Gijn, Marielle; Dalm, Virgil A; Mahlaoui, Nizar; Stephan, Jean-Louis; Picard, Capucine; Durandy, Anne; Kracker, Sven; Hivroz, Claire; Jabado, Nada; de Saint Basile, Geneviève; Fischer, Alain; Cavazzana, Marina; André-Schmutz, Isabelle

2016-12-01

We investigated 7 male patients (from 5 different families) presenting with profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, a poor immune response to vaccine antigens, and increased susceptibility to bacterial and varicella zoster virus infections. We sought to characterize the genetic defect involved in a new form of X-linked immunodeficiency. We performed genetic analyses and an exhaustive phenotypic and functional characterization of the lymphocyte compartment. We observed hemizygous mutations in the moesin (MSN) gene (located on the X chromosome and coding for MSN) in all 7 patients. Six of the latter had the same missense mutation, which led to an amino acid substitution (R171W) in the MSN four-point-one, ezrin, radixin, moesin domain. The seventh patient had a nonsense mutation leading to a premature stop codon mutation (R533X). The naive T-cell counts were particularly low for age, and most CD8 + T cells expressed the senescence marker CD57. This phenotype was associated with impaired T-cell proliferation, which was rescued by expression of wild-type MSN. MSN-deficient T cells also displayed poor chemokine receptor expression, increased adhesion molecule expression, and altered migration and adhesion capacities. Our observations establish a causal link between an ezrin-radixin-moesin protein mutation and a primary immunodeficiency that could be referred to as X-linked moesin-associated immunodeficiency. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

The Results of Neuroendoscopic Surgery in Patients with Posttraumatic and Posthemorrhagic Hydrocephalus.

PubMed

Chrastina, Jan; Novák, Zdeněk; Zeman, Tomáš; Feitová, Věra; Hrabovský, Dušan; Říha, Ivo

2018-05-01

Posttraumatic hydrocephalus (PTH) and posthemorrhagic hydrocephalus (PHH) were previously considered not suitable for neuroendoscopic treatment. New hydrocephalus theories support possible successful neuroendoscopy in such patients. This study presents the results of neuroendoscopy in PTH and PHH with a background analysis. From 130 hydrocephalic patients after neuroendoscopic surgeries, 35 cases with PTH (n = 11) or PHH (n = 24; acute: n = 9, subacute: n = 10, chronic: n = 5) were found. The success rate (Glasgow Outcome Scale [GOS] score 4 or 5 without shunt) and clinical outcome (GOS score) of endoscopic third ventriculostomy (ETV) were analyzed. During the study period, 34 patients had ventriculoperitoneal shunts implanted, including 2 PTH and 5 PHH patients (all chronic). The success rate of ETV in PTH was 54.5%. In acute PHH, the success rate was 33.3%, 42.8% after excluding devastating hematomas. A post-ETV shunt was implanted in 1 patient (massive subarachnoid hemorrhage [SAH]) with final GOS score of 5. In subacute cases, the ETV success rate was 40% (no post-ETV shunts). In chronic PHH, only 1 patient with a GOS score of 5 was shunt-free (20%). The cause of ETV failure was massive SAH. Low final GOS score was caused by the extent of intracerebral bleeding or extracranial problems. The main indications for primary shunt implantation in PTH and PHH were infectious complications. The rate of good outcomes was 0% in PTH and 40% in PHH. The best results of neuroendoscopy were achieved in PTH and acute PHH. ETV failures were associated with massive SAH; arachnoid cistern blockage and scarring precludes ETV success. Copyright © 2018 Elsevier Inc. All rights reserved.

Development of acute hydrocephalus does not change brain tissue mechanical properties in adult rats, but in juvenile rats.

PubMed

Pong, Alice C; Jugé, Lauriane; Bilston, Lynne E; Cheng, Shaokoon

2017-01-01

Regional changes in brain stiffness were previously demonstrated in an experimental obstructive hydrocephalus juvenile rat model. The open cranial sutures in the juvenile rats have influenced brain compression and mechanical properties during hydrocephalus development and the extent by which closed cranial sutures in adult hydrocephalic rat models affect brain stiffness in-vivo remains unclear. The aims of this study were to determine changes in brain tissue mechanical properties and brain structure size during hydrocephalus development in adult rat with fixed cranial volume and how these changes were related to brain tissue deformation. Hydrocephalus was induced in 9 female ten weeks old Sprague-Dawley rats by injecting 60 μL of a kaolin suspension (25%) into the cisterna magna under anaesthesia. 6 sham-injected age-matched female SD rats were used as controls. MR imaging (9.4T, Bruker) was performed 1 day before and then at 3 days post injection. T2-weighted anatomical MR images were collected to quantify ventricle and brain tissue cross-sectional areas. MR elastography (800 Hz) was used to measure the brain stiffness (G*, shear modulus). Brain tissue in the adult hydrocephalic rats was more compressed than the juvenile hydrocephalic rats because the skulls of the adult hydrocephalic rats were unable to expand like the juvenile rats. In the adult hydrocephalic rats, the cortical gray matter thickness and the caudate-putamen cross-sectional area decreased (Spearman, P < 0.001 for both) but there were no significant changes in cranial cross-sectional area (Spearman, P = 0.35), cortical gray matter stiffness (Spearman, P = 0.24) and caudate-putamen (Spearman, P = 0.11) stiffness. No significant changes in the size of brain structures were observed in the controls. This study showed that although brain tissue in the adult hydrocephalic rats was severely compressed, their brain tissue stiffness did not change significantly. These results are in contrast with our

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

PubMed

Ma, Xiang; Li, Xiaoxin; Wang, Lihua

2008-01-01

To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing. Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study. RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.

Left hemisphere structural connectivity abnormality in pediatric hydrocephalus patients following surgery.

PubMed

Yuan, Weihong; Meller, Artur; Shimony, Joshua S; Nash, Tiffany; Jones, Blaise V; Holland, Scott K; Altaye, Mekibib; Barnard, Holly; Phillips, Jannel; Powell, Stephanie; McKinstry, Robert C; Limbrick, David D; Rajagopal, Akila; Mangano, Francesco T

2016-01-01

Neuroimaging research in surgically treated pediatric hydrocephalus patients remains challenging due to the artifact caused by programmable shunt. Our previous study has demonstrated significant alterations in the whole brain white matter structural connectivity based on diffusion tensor imaging (DTI) and graph theoretical analysis in children with hydrocephalus prior to surgery or in surgically treated children without programmable shunts. This study seeks to investigate the impact of brain injury on the topological features in the left hemisphere, contratelateral to the shunt placement, which will avoid the influence of shunt artifacts and makes further group comparisons feasible for children with programmable shunt valves. Three groups of children (34 in the control group, 12 in the 3-month post-surgery group, and 24 in the 12-month post-surgery group, age between 1 and 18 years) were included in the study. The structural connectivity data processing and analysis were performed based on DTI and graph theoretical analysis. Specific procedures were revised to include only left brain imaging data in normalization, parcellation, and fiber counting from DTI tractography. Our results showed that, when compared to controls, children with hydrocephalus in both the 3-month and 12-month post-surgery groups had significantly lower normalized clustering coefficient, lower small-worldness, and higher global efficiency (all p  < 0.05, corrected). At a regional level, both patient groups showed significant alteration in one or more regional connectivity measures in a series of brain regions in the left hemisphere (8 and 10 regions in the 3-month post-surgery and the 12-month post-surgery group, respectively, all p  < 0.05, corrected). No significant correlation was found between any of the global or regional measures and the contemporaneous neuropsychological outcomes [the General Adaptive Composite (GAC) from the Adaptive Behavior Assessment System, Second Edition (ABAS

Post-hemorrhagic hydrocephalus: Recent advances and new therapeutic insights.

PubMed

Chen, Qianwei; Feng, Zhou; Tan, Qiang; Guo, Jing; Tang, Jun; Tan, Liang; Feng, Hua; Chen, Zhi

2017-04-15

Post-hemorrhagic hydrocephalus (PHH), also referred to as progressive ventricular dilatation, is caused by disturbances in cerebrospinal fluid (CSF) flow or absorption following hemorrhage in the brain. As one of the most serious complications of neonatal/adult intraventricular hemorrhage (IVH), subarachnoid hemorrhage (SAH), and traumatic brain injury (TBI), PHH is associated with increased morbidity and disability of these events. Common sequelae of PHH include neurocognitive impairment, motor dysfunction, and growth impairment. Non-surgical measures to reduce increased intracranial pressure (ICP) in PHH have shown little success and most patients will ultimately require surgical management, such as external ventricular drainage and shunting which mostly by inserting a CSF drainage shunt. Unfortunately, shunt complications are common and the optimum time for intervention is unclear. To date, there remains no comprehensive strategy for PHH management and it becomes imperative that to explore new therapeutic targets and methods for PHH. Over past decades, increasing evidence have indicated that hemorrhage-derived blood and subsequent metabolic products may play a key role in the development of IVH-, SAH- and TBI-associated PHH. Several intervention strategies have recently been evaluated and cross-referenced. In this review, we summarized and discussed the common aspects of hydrocephalus following IVH, SAH and TBI, relevant experimental animal models, clinical translation of in vivo experiments, and potential preventive and therapeutic targets for PHH. Copyright © 2017 Elsevier B.V. All rights reserved.

A new shunt for obstructive hydrocephalus: ventricle-Sylvian fissure shunt A preliminary report.

PubMed

Patkar, Sushil

2017-06-01

Cerbrospinal fluid (CSF) pathway studies have revealed that after egressing from the fourth ventricle reaches the basal supra sellar cistern and ultimately the sylvian cisterns from where the CSF travels over the cerebral convexity subarachnoid space to reach the superior saggital sinus and enters the blood stream. Diverting CSF from the lateral ventricle with a shunt catheter to the sylvian cistern can be an option to treat obstructive hydrocephalus. 2 patients underwent this procedure of diverting CSF from the lateral ventricle with a shunt catheter (Chabbra, India) to the sylvian cistern successfully and had immediate relief of symptoms of raised intracranial pressure. Additional 4 patients had relief for 3mths to 6 mths and are under follow up. Though preliminary results seem logical and promising, more cases and longer follow-up is required to consider this shunt operation as an option in treatment of obstructive hydrocephalus.

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.

PubMed

Muers, Mary R; Sharpe, Jacqueline A; Garrick, David; Sloane-Stanley, Jacqueline; Nolan, Patrick M; Hacker, Terry; Wood, William G; Higgs, Douglas R; Gibbons, Richard J

2007-06-01

Extreme skewing of X-chromosome inactivation (XCI) is rare in the normal female population but is observed frequently in carriers of some X-linked mutations. Recently, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong association with skewed XCI in female carriers, but the mechanisms underlying this skewing are unknown. ATR-X syndrome, caused by mutations in a ubiquitously expressed, chromatin-associated protein, provides a clear example of XLMR in which phenotypically normal female carriers virtually all have highly skewed XCI biased against the X chromosome that harbors the mutant allele. Here, we have used a mouse model to understand the processes causing skewed XCI. In female mice heterozygous for a null Atrx allele, we found that XCI is balanced early in embryogenesis but becomes skewed over the course of development, because of selection favoring cells expressing the wild-type Atrx allele. Unexpectedly, selection does not appear to be the result of general cellular-viability defects in Atrx-deficient cells, since it is restricted to specific stages of development and is not ongoing throughout the life of the animal. Instead, there is evidence that selection results from independent tissue-specific effects. This illustrates an important mechanism by which skewed XCI may occur in carriers of XLMR and provides insight into the normal role of ATRX in regulating cell fate.

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

PubMed

Ravia, Y; Braier-Goldstein, O; Bat-Miriam, K M; Erlich, S; Barkai, G; Goldman, B

1993-08-01

X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.

X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature.

PubMed

Ali, Syed; Seth, Rajeev

2013-01-01

A 63 year old woman was referred to the retina clinic after her vision failed to improve in her left eye after cataract surgery. X-linked retinoschisis was diagnosed in the patient after her retina exam revealed an area of retinoschisis and a foveal cyst. The OCT confirmed the macular cyst and the ERG showed loss of B waves. The florescein angiogram showed no significant perifoveal leakage. Her foveal cyst resolved after treatment with carbonic anhydrase inhibitors. The patient's son was examined and his ophthalmologic exam, ERG and imaging findings were consistent with X-linked retinoschisis. However, his bilateral foveal cysts did not respond to treatment with carbonic anhydrase inhibitors. X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal cysts associated with it can respond to carbonic anhydrase inhibitors.

[X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis].

PubMed

López Úbeda, Marta; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José I; García Jiménez, María C

2017-10-01

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice. Sociedad Argentina de Pediatría.

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets.

PubMed

Galvez-Ruiz, Alberto; Chaudhry, Imtiaz

2013-01-01

Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-year-old patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

Triventricular hydrocephalus: review of 71 cases evaluated at the Istituto Neurologico "C. Besta" Milan over the last 10 years.

PubMed

Valentini, L; Solero, C L; Lasio, G; Giombini, S; Visintini, S; Balestrini, M R; Giordano, L; Grisoli, M

1995-03-01

The authors review 71 patients with triventricular hydrocephalus in whom a contrast-enhanced CT scan did not show any tumoral or vascular lesion that could have caused the hydrocephalus. The patients were subdivided into three age groups. The results of the neuroradiological examination, the surgical treatment, and the complications of the shunt procedure are analyzed, with special reference to the high number (13) of periaqueductal alterations of signal pattern found on MRI (interpreted as a "slow growing" neoplasm) and to the incidence and causes of shunt malfunction.

Retinal detachment 7 years after prophylactic schisis cavity excision in juvenile X-linked retinoschisis.

PubMed

Sobrin, Lucia; Berrocal, Audina M; Murray, Timothy G

2003-01-01

A 7-year-old boy with X-linked juvenile retinoschisis developed a retinal detachment at the site of previous prophylactic excision of a schisis cavity. The patient underwent a scleral buckle procedure, pars plana vitrectomy, membrane peel, and silicone oil injection with successful reattachment. At last follow-up, the visual acuity was 20/400 and the retina was attached. Prophylactic excision of a schisis cavity may be complicated by retinal detachment several years after the surgery. Given the favorable natural history of schisis cavities in X-linked juvenile retinoschisis, the decision to perform prophylactic excision should be undertaken cautiously after full consideration of the potential complications.

Diagnostic accuracy of referral criteria for head circumference to detect hydrocephalus in the first year of life.

PubMed

van Dommelen, Paula; Deurloo, Jacqueline A; Gooskens, Rob H; Verkerk, Paul H

2015-04-01

Increased head circumference is often the first and main sign leading to the diagnosis of hydrocephalus. Our aim is to investigate the diagnostic accuracy of referral criteria for head circumference to detect hydrocephalus in the first year of life. A reference group with longitudinal head circumference data (n = 1938) was obtained from the Social Medical Survey of Children Attending Child Health Clinics study. The case group comprised infants with hydrocephalus treated in a tertiary pediatric hospital who had not already been detected during pregnancy (n = 125). Head circumference data were available for 43 patients. Head circumference data were standardized according to gestational age-specific references. Sensitivity and specificity of a very large head circumference (>2.5 standard deviations on the growth chart) were, respectively, 72.1% (95% confidence interval [CI]: 56.3-84.7) and 97.1% (95% CI:96.2-97.8). These figures were, respectively, 74.4% (95% CI: 58.8-86.5) and 93.0% (95% CI:91.8-94.1) for a large head circumference (>2.0 standard deviation), and 76.7% (95% CI:61.4-88.2) and 96.5% (95% CI:95.6-97.3) for a very large head circumference and/or a very large (>2.5 standard deviation) progressive growth of head circumference. A very large head circumference and/or a very large progressive growth of head circumference shows the best diagnostic accuracy to detect hydrocephalus at an early stage. Gestational age-specific growth charts are recommended. Further improvements may be possible by taking into account parental head circumference. Copyright © 2015 Elsevier Inc. All rights reserved.

Three-Dimensional Constructive Interference in Steady State Sequences and Phase-Contrast Magnetic Resonance Imaging of Arrested Hydrocephalus.

PubMed

Elkafrawy, Fatma; Reda, Ihab; Elsirafy, Mohamed; Gawad, Mohamed Saied Abdel; Elnaggar, Alaa; Khalek Abdel Razek, Ahmed Abdel

2017-02-01

To evaluate the role of three-dimensional constructive interference in steady state (3D-CISS) sequences and phase-contrast magnetic resonance imaging (PC-MRI) in patients with arrested hydrocephalus. A prospective study of 20 patients with arrested hydrocephalus was carried out. All patients underwent PC-MRI and 3D-CISS for assessment of the aqueduct. Axial (through-plane), sagittal (in-plane) PC-MRI, and sagittal 3D-CISS were applied to assess the cerebral aqueduct and the spontaneous third ventriculostomy if present. Aqueductal patency was graded using 3D-CISS and PC-MRI. Quantitative analysis of flow through the aqueduct was performed using PC-MRI. The causes of obstruction were aqueductal obstruction in 75% (n = 15), third ventricular obstruction in 5% (n = 1), and fourth ventricular obstruction in 20% (n = 4). The cause of arrest of hydrocephalus was spontaneous third ventriculostomy in 65% (n = 13), endoscopic third ventriculostomy in 10% (n = 2), and ventriculoperitoneal shunt in 5% (n = 1), and no cause could be detected in 20% of patients (n = 4). There is a positive correlation (r = 0.80) and moderate agreement (κ = 0.509) of grading with PC-MRI and 3D-CISS sequences. The mean peak systolic velocity of cerebrospinal fluid was 1.86 ± 2.48 cm/second, the stroke volume was 6.43 ± 13.81 μL/cycle, and the mean flow was 0.21 ± 0.32 mL/minute. We concluded that 3D-CISS and PC-MRI are noninvasive sequences for diagnosis of the level and cause of arrested hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

Idiopathic normal pressure hydrocephalus, quantitative EEG findings, and the cerebrospinal fluid tap test: a pilot study.

PubMed

Seo, Jong-Geun; Kang, Kyunghun; Jung, Ji-Young; Park, Sung-Pa; Lee, Maan-Gee; Lee, Ho-Won

2014-12-01

In this pilot study, we analyzed relationships between quantitative EEG measurements and clinical parameters in idiopathic normal pressure hydrocephalus patients, along with differences in these quantitative EEG markers between cerebrospinal fluid tap test responders and nonresponders. Twenty-six idiopathic normal pressure hydrocephalus patients (9 cerebrospinal fluid tap test responders and 17 cerebrospinal fluid tap test nonresponders) constituted the final group for analysis. The resting EEG was recorded and relative powers were computed for seven frequency bands. Cerebrospinal fluid tap test nonresponders, when compared with responders, showed a statistically significant increase in alpha2 band power at the right frontal and centrotemporal regions. Higher delta2 band powers in the frontal, central, parietal, and occipital regions and lower alpha1 band powers in the right temporal region significantly correlated with poorer cognitive performance. Higher theta1 band powers in the left parietal and occipital regions significantly correlated with gait dysfunction. And higher delta1 band powers in the right frontal regions significantly correlated with urinary disturbance. Our findings may encourage further research using quantitative EEG in patients with ventriculomegaly as a potential electrophysiological marker for predicting cerebrospinal fluid tap test responders. This study additionally suggests that the delta, theta, and alpha bands are statistically correlated with the severity of symptoms in idiopathic normal pressure hydrocephalus patients.

Autosomal Genes of Autosomal/X-Linked Duplicated Gene Pairs and Germ-Line Proliferation in Caenorhabditis elegans

PubMed Central

Maciejowski, John; Ahn, James Hyungsoo; Cipriani, Patricia Giselle; Killian, Darrell J.; Chaudhary, Aisha L.; Lee, Ji Inn; Voutev, Roumen; Johnsen, Robert C.; Baillie, David L.; Gunsalus, Kristin C.; Fitch, David H. A.; Hubbard, E. Jane Albert

2005-01-01

We report molecular genetic studies of three genes involved in early germ-line proliferation in Caenorhabditis elegans that lend unexpected insight into a germ-line/soma functional separation of autosomal/X-linked duplicated gene pairs. In a genetic screen for germ-line proliferation-defective mutants, we identified mutations in rpl-11.1 (L11 protein of the large ribosomal subunit), pab-1 [a poly(A)-binding protein], and glp-3/eft-3 (an elongation factor 1-α homolog). All three are members of autosome/X gene pairs. Consistent with a germ-line-restricted function of rpl-11.1 and pab-1, mutations in these genes extend life span and cause gigantism. We further examined the RNAi phenotypes of the three sets of rpl genes (rpl-11, rpl-24, and rpl-25) and found that for the two rpl genes with autosomal/X-linked pairs (rpl-11 and rpl-25), zygotic germ-line function is carried by the autosomal copy. Available RNAi results for highly conserved autosomal/X-linked gene pairs suggest that other duplicated genes may follow a similar trend. The three rpl and the pab-1/2 duplications predate the divergence between C. elegans and C. briggsae, while the eft-3/4 duplication appears to have occurred in the lineage to C. elegans after it diverged from C. briggsae. The duplicated C. briggsae orthologs of the three C. elegans autosomal/X-linked gene pairs also display functional differences between paralogs. We present hypotheses for evolutionary mechanisms that may underlie germ-line/soma subfunctionalization of duplicated genes, taking into account the role of X chromosome silencing in the germ line and analogous mammalian phenomena. PMID:15687263

Yap is required for ependymal integrity and is suppressed in LPA-induced hydrocephalus

PubMed Central

Park, Raehee; Moon, Uk Yeol; Park, Jun Young; Hughes, Lucinda J.; Johnson, Randy L.; Cho, Seo-Hee; Kim, Seonhee

2016-01-01

Timely generation and normal maturation of ependymal cells along the aqueduct are critical for preventing physical blockage between the third and fourth ventricles and the development of fetal non-communicating hydrocephalus. Our study identifies Yap, the downstream effector of the evolutionarily conserved Hippo pathway, as a central regulator for generating developmentally controlled ependymal cells along the ventricular lining of the aqueduct. Yap function is necessary for proper proliferation of progenitors and apical attachment of ependymal precursor cells. Importantly, an injury signal initiated by lysophosphatidic acid (LPA), an upstream regulator of Yap that can cause fetal haemorrhagic hydrocephalus, deregulates Yap in the developing aqueduct. LPA exposure leads to the loss of N-cadherin concentrations at the apical endfeet, which can be partially restored by forced Yap expression and more efficiently by phosphomimetic Yap. These results reveal a novel function of Yap in retaining tissue junctions during normal development and after fetal brain injury. PMID:26754915

DTI-MRI biomarkers in the search for normal pressure hydrocephalus aetiology: a review.

PubMed

Hoza, David; Vlasák, Aleš; Hořínek, Daniel; Sameš, Martin; Alfieri, Alex

2015-04-01

Normal pressure hydrocephalus (NPH) is a clinical syndrome characterized by gait disturbances, urinary incontinence and dementia. Clinical presentation overlaps with Alzheimer disease (AD). Early recognition thus early intervention (shunting) is important for successful treatment, but lack of a diagnostic test with sufficient sensitivity and specificity complicates the diagnosis. We performed literature search and composed a structured review of imaging biomarkers of NPH. Morphometric studies are not sufficient to diagnose NPH. Hydrocephalus is a common finding in elderly people due to the symmetric brain atrophy and is even more pronounced in patients with AD. The key MRI biomarker seems to be diffusion tensor imaging (DTI). According to recent studies, the DTI analysis of the splenium corporis callosi, posterior limb of internal capsule, hippocampus and fornix combined with measurement of Evans index is a promising MRI biomarker of NPH and could be used for NPH diagnostics and in the differential diagnosis from AD and other dementias.

Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

PubMed

Özdemir, Özmert Ma; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer

2016-09-01

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS. © 2016 Japan Pediatric Society.

Are Shunt Revisions Associated with IQ in Congenital Hydrocephalus? A Meta -Analysis.

PubMed

Arrington, C Nikki; Ware, Ashley L; Ahmed, Yusra; Kulesz, Paulina A; Dennis, Maureen; Fletcher, Jack M

2016-12-01

Although it is generally acknowledged that shunt revisions are associated with reductions in cognitive functions in individuals with congenital hydrocephalus, the literature yields mixed results and is inconclusive. The current study used meta-analytic methods to empirically synthesize studies addressing the association of shunt revisions and IQ in individuals with congenital hydrocephalus. Six studies and three in-house datasets yielded 11 independent samples for meta-analysis. Groups representing lower and higher numbers of shunt revisions were coded to generate effect sizes for differences in IQ scores. Mean effect size across studies was statistically significant, but small (Hedges' g = 0.25, p < 0.001, 95 % CI [0.08, 0.43]) with more shunt revisions associated with lower IQ scores. Results show an association of lower IQ and more shunt revisions of about 3 IQ points, a small effect, but within the error of measurement associated with IQ tests. Although clinical significance of this effect is not clear, results suggest that repeated shunt revisions because of shunt failure is associated with a reduction in cognitive functions.

Frontal and occipital horn ratio is associated with multifocal intraparenchymal hemorrhages in neonatal shunted hydrocephalus.

PubMed

Oushy, Soliman; Parker, Jonathon J; Campbell, Kristen; Palmer, Claire; Wilkinson, Corbett; Stence, Nicholas V; Handler, Michael H; Mirsky, David M

2017-11-01

OBJECTIVE Placement of a cerebrospinal fluid diversion device (i.e., shunt) is a routine pediatric neurosurgical procedure, often performed in the first weeks of life for treatment of congenital hydrocephalus. In the postoperative period, shunt placement may be complicated by subdural, catheter tract, parenchymal, and intraventricular hemorrhages. The authors observed a subset of infants and neonates who developed multifocal intraparenchymal hemorrhages (MIPH) following shunt placement and sought to determine any predisposing perioperative variables. METHODS A retrospective review of the electronic medical record at a tertiary-care children's hospital was performed for the period 1998-2015. Inclusion criteria consisted of shunt placement, age < 30 days, and available pre- and postoperative brain imaging. The following data were collected and analyzed for each case: ventricular size ratios, laboratory values, clinical presentation, shunt and valve type, and operative timing and approach. RESULTS A total of 121 neonates met the inclusion criteria for the study, and 11 patients (9.1%) had MIPH following shunt placement. The preoperative frontal and occipital horn ratio (FOR) was significantly higher in the patients with MIPH than in those without (0.65 vs 0.57, p < 0.001). The change in FOR (∆FOR) after shunt placement was significantly greater in the MIPH group (0.14 vs 0.08, p = 0.04). Among neonates who developed MIPH, aqueductal stenosis was the most common etiology (45%). The type of shunt valve was associated with incidence of MIPH (p < 0.001). Preoperative clinical parameters, including head circumference, bulging fontanelle, and coagulopathy, were not significantly associated with development of MIPH. CONCLUSIONS MIPH represents an underrecognized complication of neonatal shunted hydrocephalus. Markers of severity of ventriculomegaly (FOR) and ventricular response to CSF diversion (∆FOR) were significantly associated with occurrence of MIPH. Choice of

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family

PubMed Central

He, Xiang; Gu, Feng; Wang, Yujing; Yan, Jinting; Zhang, Meng; Huang, Shangzhi

2008-01-01

Purpose To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family. Methods Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent. Affected male individuals were genotyped with microsatellite markers around the FRMD7 locus. Mutations were comprehensively screened by direct sequencing using gene specific primers. An X-inactivation pattern was investigated by X chromosome methylation analysis. Results The patients showed phenotypes consistent with XLICN. Genotype analysis showed that male affected individuals in the family shared a common haplotype with the selected markers. Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F). This mutation co-segregated with all affected individuals and was present in the obligate, non-penetrant female carriers. However, the mutation was not observed in unaffected familial males or 400 control males. Females with the mutant gene could be affected or carrier and they shared the same inactivated X chromosome harboring the mutation in blood cells, which showed there is no clear causal link between X-inactivation pattern and phenotype. Conclusions We identified a novel mutation in FRMD7 and confirmed the role of this mutation in the pathogenesis of X-linked congenital nystagmus. PMID:18246032

Microsatellites within the feline androgen receptor are suitable for X chromosome-linked clonality testing in archival material.

PubMed

Farwick, Nadine M; Klopfleisch, Robert; Gruber, Achim D; Weiss, Alexander Th A

2017-04-01

Objectives A hallmark of neoplasms is their origin from a single cell; that is, clonality. Many techniques have been developed in human medicine to utilise this feature of tumours for diagnostic purposes. One approach is X chromosome-linked clonality testing using polymorphisms of genes encoded by genes on the X chromosome. The aim of this study was to determine if the feline androgen receptor gene was suitable for X chromosome-linked clonality testing. Methods The feline androgen receptor gene was characterised and used to test clonality of feline lymphomas by PCR and polyacrylamide gel electrophoresis, using archival formalin-fixed, paraffin-embedded material. Results Clonality of the feline lymphomas under study was confirmed and the gene locus was shown to represent a suitable target in clonality testing. Conclusions and relevance Because there are some pitfalls of using X chromosome-linked clonality testing, further studies are necessary to establish this technique in the cat.

X-linked agammaglobulinemia in northern Thailand.

PubMed

Trakultivakorn, Muthita; Ochs, Hans D

2006-03-01

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.

Development of acute hydrocephalus does not change brain tissue mechanical properties in adult rats, but in juvenile rats

PubMed Central

Pong, Alice C.; Jugé, Lauriane; Bilston, Lynne E.; Cheng, Shaokoon

2017-01-01

Introduction Regional changes in brain stiffness were previously demonstrated in an experimental obstructive hydrocephalus juvenile rat model. The open cranial sutures in the juvenile rats have influenced brain compression and mechanical properties during hydrocephalus development and the extent by which closed cranial sutures in adult hydrocephalic rat models affect brain stiffness in-vivo remains unclear. The aims of this study were to determine changes in brain tissue mechanical properties and brain structure size during hydrocephalus development in adult rat with fixed cranial volume and how these changes were related to brain tissue deformation. Methods Hydrocephalus was induced in 9 female ten weeks old Sprague-Dawley rats by injecting 60 μL of a kaolin suspension (25%) into the cisterna magna under anaesthesia. 6 sham-injected age-matched female SD rats were used as controls. MR imaging (9.4T, Bruker) was performed 1 day before and then at 3 days post injection. T2-weighted anatomical MR images were collected to quantify ventricle and brain tissue cross-sectional areas. MR elastography (800 Hz) was used to measure the brain stiffness (G*, shear modulus). Results Brain tissue in the adult hydrocephalic rats was more compressed than the juvenile hydrocephalic rats because the skulls of the adult hydrocephalic rats were unable to expand like the juvenile rats. In the adult hydrocephalic rats, the cortical gray matter thickness and the caudate-putamen cross-sectional area decreased (Spearman, P < 0.001 for both) but there were no significant changes in cranial cross-sectional area (Spearman, P = 0.35), cortical gray matter stiffness (Spearman, P = 0.24) and caudate-putamen (Spearman, P = 0.11) stiffness. No significant changes in the size of brain structures were observed in the controls. Conclusions This study showed that although brain tissue in the adult hydrocephalic rats was severely compressed, their brain tissue stiffness did not change significantly

[Comparison of extent of postoperative hydrocephalus in patients between intervertional therapy with embolism and craniotomy occlusion in Hunt-Hess III-IV level aneurysm induced subarachnoid hemorrhage and their prognosis].

PubMed

Liu, Yang; Sun, Shengkai; Chen, Xuyi; Cheng, Shixiang; Qin, Zhizhen; Liu, Xiu; Chen, Xiaochu; Ning, Lili; Wang, Zhihong

2015-02-01

To analyze and compare the difference and prognosis between vascular embolization and craniotomy occlusion in patients suffering from aneurysmal subarachnoid hemorrhage (aSAH) with Hunt-Hess level III-IV, and acute postoperative hydrocephalus. A retrospective study was conducted on 767 patients who had undergone vascular embolization (vascular embolization group, n = 403) or craniotomy occlusion operation (craniotomy occlusion operation group, n = 364), and the patients with postoperative acute hydrocephalus were screened. The clinical data of patients of both groups was analyzed. By judging short-term prognosis in patients with hydrocephalus with Glasgow outcome scale (GOS) score estimated at discharge, the advantages and disadvantages of two surgical procedures were compared. The number of cases with postoperative hydrocephalus in vascular embolization group was 56 (13.90%), while that in craniotomy occlusion group was 33 (9.07%). The difference between the two groups of incidence of hydrocephalus was statistically significant (χ (2) = 4.350, P = 0.037). In 767 patients with aSAH, the incidence of hydrocephalus among the patients after the hematoma removal operation was significantly lower than that of patients without hematoma removal [3.07% (11/358) vs. 19.07% (78/409), χ (2) = 47.635, P = 0.000]. The incidence of hydrocephalus among the patients after ventricular drainage was significantly lower than that of patients without the drainage [2.77% (19/685) vs. 85.37% (70/82), χ (2) = 487.032, P = 0.000]. In 403 cases of vascular embolization group, the incidence of hydrocephalus in the patients after the hematoma removal operation was lower than that of patients without it [8.06% (5/62) vs. 14.96% (51/341), χ (2) = 2.082, P = 0.168]. The incidence of hydrocephalus in the patients after the ventricular drainage was lower than that of patients without drainage [2.59% (9/347) vs. 83.93% (47/56), χ (2) = 266.599, P = 0.000]. In 364 cases of craniotomy occlusion

Persistent hydrocephalus due to postural activation of a ventricular shunt anti-gravity device.

PubMed

Craven, Claudia L; Toma, Ahmed K; Watkins, Laurence D

2017-03-01

The ever present need to balance over drainage with under drainage in hydrocephalus has required innovations including adjustable valves with antigravity devices. These are activated in the vertical position to prevent siphoning. We describe a group of bedridden patients who presented with unexplained under drainage caused by activation of antigravity shunt components produced by peculiar head/body position. Retrospective single centre case series of hydrocephalus patients, treated with ventriculo-peritoneal (VP) shunt insertion between April 2014 - February 2016. These patients presented with clinical and radiological under drainage syndrome. Medical notes were reviewed for clinical picture and outcome. Radiological studies were reviewed assessing shunt placement and ventricular size. Seven patients presented with clinical and radiological under drainage syndrome. A consistent posturing of long term hyper-flexion of the neck whilst lying supine was observed. All patients had similar shunt construct (adjustable Miethke ProGAV valve and shunt assistant anti-gravity component). In each of those patients a hypothesis was formulated that neck flexion was activating the shunt assistance anti-gravity component in supine position. Five patients underwent shunt revision surgery removing the shunt assistant device from the cranium and adding an anti-gravity component to the shunt system at the chest. One had the shunt assistant completely removed and one patient was managed conservatively with mobilisation. All patients had clinical and radiological improvement. Antigravity shunt components implanted cranially in bedridden hydrocephalus patients will produce underdrainage due to head flexion induced anti-gravity device activation. In these patients, anti-gravity devices should be placed at the chest. Alternatively, special nursing attention should be paid to head-trunk angle. Copyright © 2016 Elsevier Ltd. All rights reserved.

Introduction of percutaneous-tunneled transfontanellar external ventricular drainage in the management of hydrocephalus in extremely low-birth-weight infants.

PubMed

Zucchelli, Mino; Lefosse, Mariella; Corvaglia, Luigi; Martini, Silvia; Sandri, Fabrizio; Soffritti, Silvia; Ancora, Gina; Mammoliti, Palma; Gargano, Giancarlo; Galassi, Ercole

2016-07-01

OBJECTIVE Hydrocephalus treatment in extremely low-birth-weight (ELBW) infants still represents a challenge for the pediatric neurosurgeon, particularly when the patient weighs far less than 1000 g. In such cases, the benefits in terms of neurological outcome following early treatment do not always outweigh the surgical risks, especially considering the great difference in the surgical risk before patient weight increases. To assess the efficacy and reliability of a percutaneous-tunneled, transfontanellar external ventricular drain (PTTEVD) in ELBW infants, the authors started a new protocol for the early surgical treatment of hydrocephalus. METHODS Ten cases of posthemorrhagic hydrocephalus (PHH) in ELBW infants (5 cases < 700 g, range for all cases 550-1000 g) were treated with a PTTEVD that was implanted at bedside as the first measure in a stepwise approach. RESULTS The average duration of the procedure was 7 minutes, and there was no blood loss. The drain remained in place for an average of 24 days (range 8-45 days). In all cases early control of the hydrocephalus was achieved. One patient had a single episode of CSF leakage (due to insufficient CSF removal). In another patient Enterococcus in the CSF sample was detected the day after abdominal surgery with ileostomy (infection resolved with intrathecal vancomycin). One patient died of Streptococcus sepsis, a systemic infection existing prior to drain placement that never resolved. One patient had Pseudomonas aeruginosa sepsis prior to drain insertion; a PTTEVD was implanted, the infection resolved, and the hydrocephalus was treated in the same way as with a traditional EVD, while the advantages of a quick, minimally invasive, bedside procedure were maintained. Once a patient reached 1 kg in weight, when necessary, a ventriculoperitoneal shunt was implanted and the PTTEVD was removed. CONCLUSIONS The introduction of PTTEVD placement in our standard protocol for the management of PHH has proved to be a wise

A CLINICIAN'S GUIDE TO X-LINKED HYPOPHOSPHATEMIA

PubMed Central

Carpenter, Thomas O.; Imel, Erik A.; Holm, Ingrid A.; Jan de Beur, Suzanne M.; Insogna, Karl L.

2011-01-01

X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and XLH support groups have all expressed concerns about the dearth of information about this disease and the lack of treatment guidelines which frequently lead to missed diagnoses or mismanagement. This perspective addresses the recommendation by conferees for the dissemination of concise and accessible treatment guidelines for clinicians arising from the “Advances in Rare Bone Diseases Scientific Conference,” held at the National Institutes of Health in October 2008. We briefly review the clinical and pathophysiologic features of the disorder, and offer this guide in response to the conference recommendation, base on our collective accumulated experience in the management of this complex disorder. PMID:21538511

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.

PubMed

Motoki, T; Fukuda, M; Nakano, T; Matsukage, S; Fukui, A; Akiyoshi, S; Hayashi, Y K; Ishii, E; Nishino, I

2013-11-01

We report a 5-year-old boy with X-linked myotubular myopathy complicated by peliosis hepatis. At birth, he was affected with marked generalized muscle hypotonia and weakness, which required permanent ventilatory support, and was bedridden for life. He died of acute fatal hepatic hemorrhage after using a mechanical in-exsufflator. Peliosis hepatis, defined as multiple, variable-sized, cystic blood-filled spaces through the liver parenchyma, was confirmed by autopsy. To avoid fatal hepatic hemorrhage by peliosis hepatis, routine hepatic function tests and abdominal imaging tests should be performed for patients with X-linked myotubular myopathy, especially at the time of using artificial respiration. Copyright © 2013 Elsevier B.V. All rights reserved.

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.

PubMed

O'Donnell, F E; Green, W R; Fleischman, J A; Hambrick, G W

1978-07-01

X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.

PubMed

Gliem, Martin; Holz, Frank G; Stöhr, Heidi; Weber, Bernhard H F; Charbel Issa, Peter

2014-12-01

To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis. Five patients, including one homozygous female, were characterized by clinical examination, optical coherence tomography, fundus autofluorescence, mapping of macular pigment optical density, electroretinography, and DNA testing. The 36-year-old male index patient showed a ring of enhanced autofluorescence and outer retinal atrophy on optical coherence tomography. Electroretinography testing revealed a reduced a/b ratio. His mother presented with a central atrophic retina with markedly reduced autofluorescence signal and a surrounding ring of enhanced autofluorescence. The 40-year-old brother of the index patient and his 2 sons showed characteristic signs for X-linked retinoschisis, including retinal schisis and a reduced a/b ratio. Genetic testing revealed a c.293C>A mutation in the RS1 gene in all affected family members while the mother of the index patient was homozygous for this mutation. X-linked retinoschisis can present with a wide phenotypic variability. Here, detailed family history and genetic testing established the diagnosis of X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.

Acquired Chiari I Malformation with Syringomyelia Secondary to Colloid Cyst with Hydrocephalus-Case Report and Review of Literature.

PubMed

Thotakura, Amit Kumar; Marabathina, Nageswara R

2017-12-01

Acquired Chiari malformation and associated syringomyelia have been previously described following lumbar puncture/drainage, lumboperitoneal shunts, and spontaneous cerebrospinal fluid leakage. In addition to these etiologies, space-occupying lesions such as meningiomas, epidermoid cysts, medulloblastomas, and arachnoid cysts are rare causes of acquired Chiari malformation and syringomyelia. We report a rare case of colloid cyst with hydrocephalus causing secondary Chiari malformation with syringomyelia. A 58-year-old lady presented with neck pain and difficulty in walking and numbness of all 4 limbs of 1-year duration. Diagnostics with magnetic resonance imaging of the head and the cervical spine were done in the referring hospital. The patients was then referred with the diagnosis of colloid cyst with hydrocephalus and Chiari malformation 1 with cervicodorsal syringomyelia. She underwent colloid cyst excision through the transcallosal approach. Postoperatively the patient showed improvement in her symptomatology. Magnetic resonance imaging of the brain and cervical spine at 6 months' follow-up showed resolved Chiari malformation and resolving syrinx. Colloid cyst with hydrocephalus is a rare cause of secondary Chiari malformation with syringomyelia. Surgical management of the underlying lesion improves acquired Chiari malformation and associated syringomyelia. Copyright © 2017 Elsevier Inc. All rights reserved.

Comparison of the sagittal sinus cross-sectional area between patients with multiple sclerosis, hydrocephalus, intracranial hypertension and spontaneous intracranial hypotension: a surrogate marker of venous transmural pressure?

PubMed

Bateman, Grant A; Lechner-Scott, Jeannette; Copping, Ross; Moeskops, Christopher; Yap, Swee Leong

2017-07-06

There is evidence that patients with multiple sclerosis (MS) and hydrocephalus share some common pathophysiological mechanisms. Alterations in CSF pressure are known to affect cerebral venous sinus geometry. To further explore these mechanisms, we measured the superior sagittal sinus (SSS) cross-sectional area 3 cm above the torcular using T2 images in 20 MS, 10 spontaneous intracranial hypotension (SIH), 21 hydrocephalus and 20 idiopathic intracranial hypertension (IIH) patients and compared with 20 matched controls. The SSS area was reduced by 25% in hydrocephalus (p = 0.0008), increased by 22% (p = 0.037) in SIH and unchanged in IIH compared to matched controls. In MS there was a 16% increase in SSS area (p = 0.01).The findings suggest that changes in SSS cross-sectional are common between MS and SIH patients, while in hydrocephalus and IIH these are different.

The combination of a programmable valve and a subclavicular anti-gravity device in hydrocephalus patients at high risk for hygromas.

PubMed

Zachenhofer, Iris; Donat, Markus; Roessler, Karl

2012-04-01

In order to avoid occurrence of post-operative hygromas in specific hydrocephalus patients being at high risk of overdrainage, a combination of programmable valve and anti-gravity device is widely recommended. We analyzed our series of hydrocephalus patients implanted with such a shunt configuration focusing on complications in relation to over-/underdrainage and neurological outcome. In 28 hydrocephalic patients (14 women and 14 men; mean age 65 years, range from 14 to 82 years; 11 normal pressure, 7 post-traumatic, and 4 post-hemorrhagic hydrocephalus), a Codman Medos programmable valve combined with a Miethke shunt assistant (SA) was implanted at the Department of Neurosurgery of the Academic Teaching Hospital Feldkirch. Implantation was performed simultaneously in 20 patients during the primary procedure: in five patients, SA was placed during revision surgery, and in three patients, the patent system was completed by additional implantation of an SA. Subdural hematoma occurred in one out of 20 patients with SA implantation during primary procedure and in two out of eight patients with SA implantation as secondary procedure, respectively. Shunt occlusion occurred in one patient out of the patients with SA implantation during primary procedure, but was seen in three patients with pre-existing shunt without SA. Shunt infection occurred in one case. Our results suggest the combination of an adjustable valve and SA as an effective treatment for a specific group of hydrocephalus patients being at high risk for overdrainage.

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

PubMed

Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

2015-06-01

X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

Natural history of idiopathic normal-pressure hydrocephalus.

PubMed

Toma, Ahmed K; Stapleton, Simon; Papadopoulos, Marios C; Kitchen, Neil D; Watkins, Laurence D

2011-10-01

Natural history of idiopathic normal-pressure hydrocephalus (INPH) is not clear. We performed a literature search for studies that looked into the outcome of unshunted INPH patients trying to answer the following questions: Do all INPH patients deteriorate without shunt? If yes, at what rate? Do some NPH patients improve without shunt? If yes, to what extent? Six studies objectively described the outcome of 102 INPH patients. Result shows that without surgery, most INPH patients had measurable deterioration as early as 3 months following initial assessment. A small number of patients might improve without shunt, however the extent of improvement is not clear. The homogeneity of the findings of the cohort studies provided high evidence supporting the rule of shunt surgery in INPH patients.

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

PubMed

Shastry, B S; Hejtmancik, J F; Plager, D A; Hartzer, M K; Trese, M T

1995-05-20

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been performed with three previously unreported three- or four-generation families. Two-point analysis showed linkage to MAOA (Zmax = 2.1, theta max = 0) and DXS228 (Zmax = 0.5, theta max = 0.11), and this was further confirmed by multipoint analysis with these same markers (Zmax = 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular genetic analysis further reveals a missense mutation (R121W) in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family. This mutation was not detected in the unaffected family members and six normal unrelated controls, suggesting that it is likely to be the pathogenic mutation. Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient.

Vitreoretinal surgery without schisis cavity excision for the management of juvenile X linked retinoschisis.

PubMed

García-Arumí, J; Corcóstegui, I A; Navarro, R; Zapata, M A; Berrocal, M H

2008-11-01

Juvenile X linked retinoschisis (XLRS) is a congenital X linked recessive retinal disorder characterised by cystic maculopathy and peripheral schisis. This study presents the case of an 8-month-old boy with a documented positive family history of XLRS, with a large retinoschisis cavity affecting the macula, first in the left eye and 1 year later in the right eye. The patient underwent pars plana vitrectomy in both eyes using 23-G instruments, posterior hyaloid dissection, a small retinotomy, fluid drainage with a 42-G cannula, infrared diode laser and silicone oil as internal tamponade. The anatomical and functional outcomes at 3 years following the first surgery are described. To the authors' knowledge, there is no previously reported experience with this technique in patients with XLRS.

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

PubMed

Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

2007-11-01

X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

ERIC Educational Resources Information Center

Mittler, Joel E.

1986-01-01

The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

Programmable shunt valves for the treatment of hydrocephalus: a systematic review.

PubMed

Xu, H; Wang, Z X; Liu, F; Tan, G W; Zhu, H W; Chen, D H

2013-09-01

To evaluate the clinical effectiveness of programmable valves compared with non-programmable valves of hydrocephalus. In this paper, the authors report a systematic review and meta-analysis of complications and revision rate for programmable valves and non-programmable implantation. Randomized or non-randomized controlled trials of hydrocephalus treated by programmable and non-programmable valves were considered for inclusion. Seven published reports of eligible studies involving 1702 participants meet the inclusion criteria. Compared with non-programmable, programmable valves had no significant difference in catheter-related complications [RR = 0.88, 95%CI (0.66,1.19), p = 0.10] and infection rate [RR = 1.25, 95%CI (0.92,1.69), p = 1.00]. There were significant differences in overall complications [RR = 0.80, 95%CI (0.67,0.96), p < 0.01], over-drainage or under-drainage complications [RR = 0.44, 95%CI (0.31,0.63), p < 0.01] and revision rate [RR = 0.56, 95%CI (0.45,0.69), p < 0.01] in favor of programmable valves. Although the studies seem to demonstrate a small advantage for the programmable shunts, the probable bias and the difficulties in patient selection are too important to make a general conclusion. Copyright © 2013. Published by Elsevier Ltd.

Uncovering inherent cellular plasticity of multiciliated ependyma leading to ventricular wall transformation and hydrocephalus.

PubMed

Abdi, Khadar; Lai, Chun-Hsiang; Paez-Gonzalez, Patricia; Lay, Mark; Pyun, Joon; Kuo, Chay T

2018-04-25

Specialized, differentiated cells often perform unique tasks that require them to maintain a stable phenotype. Multiciliated ependymal cells (ECs) are unique glial cells lining the brain ventricles, important for cerebral spinal fluid circulation. While functional ECs are needed to prevent hydrocephalus, they have also been reported to generate new neurons: whether ECs represent a stable cellular population remains unclear. Via a chemical screen we found that mature ECs are inherently plastic, with their multiciliated state needing constant maintenance by the Foxj1 transcription factor, which paradoxically is rapidly turned over by the ubiquitin-proteasome system leading to cellular de-differentiation. Mechanistic analyses revealed a novel NF-κB-independent IKK2 activity stabilizing Foxj1 in mature ECs, and we found that known IKK2 inhibitors including viruses and growth factors robustly induced Foxj1 degradation, EC de-differentiation, and hydrocephalus. Although mature ECs upon de-differentiation can divide and regenerate multiciliated ECs, we did not detect evidence supporting EC's neurogenic potential.

Risk factors for shunt malfunction in pediatric hydrocephalus: a multicenter prospective cohort study.

PubMed

Riva-Cambrin, Jay; Kestle, John R W; Holubkov, Richard; Butler, Jerry; Kulkarni, Abhaya V; Drake, James; Whitehead, William E; Wellons, John C; Shannon, Chevis N; Tamber, Mandeep S; Limbrick, David D; Rozzelle, Curtis; Browd, Samuel R; Simon, Tamara D

2016-04-01

OBJECT The rate of CSF shunt failure remains unacceptably high. The Hydrocephalus Clinical Research Network (HCRN) conducted a comprehensive prospective observational study of hydrocephalus management, the aim of which was to isolate specific risk factors for shunt failure. METHODS The study followed all first-time shunt insertions in children younger than 19 years at 6 HCRN centers. The HCRN Investigator Committee selected, a priori, 21 variables to be examined, including clinical, radiographic, and shunt design variables. Shunt failure was defined as shunt revision, subsequent endoscopic third ventriculostomy, or shunt infection. Important a priori-defined risk factors as well as those significant in univariate analyses were then tested for independence using multivariate Cox proportional hazard modeling. RESULTS A total of 1036 children underwent initial CSF shunt placement between April 2008 and December 2011. Of these, 344 patients experienced shunt failure, including 265 malfunctions and 79 infections. The mean and median length of follow-up for the entire cohort was 400 days and 264 days, respectively. The Cox model found that age younger than 6 months at first shunt placement (HR 1.6 [95% CI 1.1-2.1]), a cardiac comorbidity (HR 1.4 [95% CI 1.0-2.1]), and endoscopic placement (HR 1.9 [95% CI 1.2-2.9]) were independently associated with reduced shunt survival. The following had no independent associations with shunt survival: etiology, payer, center, valve design, valve programmability, the use of ultrasound or stereotactic guidance, and surgeon experience and volume. CONCLUSIONS This is the largest prospective study reported on children with CSF shunts for hydrocephalus. It confirms that a young age and the use of the endoscope are risk factors for first shunt failure and that valve type has no impact. A new risk factor-an existing cardiac comorbidity-was also associated with shunt failure.

Acute triventricular hydrocephalus caused by choroid plexus cysts: a diagnostic and neurosurgical challenge.

PubMed

Spennato, Pietro; Chiaramonte, Carmela; Cicala, Domenico; Donofrio, Vittoria; Barbarisi, Manlio; Nastro, Anna; Mirone, Giuseppe; Trischitta, Vincenzo; Cinalli, Giuseppe

2016-11-01

OBJECTIVE Intraventricular choroid plexus cysts are unusual causes of acute hydrocephalus in children. Radiological diagnosis of intraventricular choroid plexus cysts is difficult because they have very thin walls and fluid contents similar to CSF and can go undetected on routine CT studies. METHODS This study reports the authors' experience with 5 patients affected by intraventricular cysts originating from the choroid plexus. All patients experienced acute presentation with rapid neurological deterioration, sometimes associated with hypothalamic dysfunction, and required urgent surgery. In 2 cases the symptoms were intermittent, with spontaneous remission and sudden clinical deteriorations, reflecting an intermittent obstruction of the CSF pathway. RESULTS Radiological diagnosis was difficult in these cases because a nonenhanced CT scan revealed only triventricular hydrocephalus, with slight lateral ventricle asymmetry in all cases. MRI with driven-equilibrium sequences and CT ventriculography (in 1 case) allowed the authors to accurately diagnose the intraventricular cysts that typically occupied the posterior part of the third ventricle, occluding the aqueduct and at least 1 foramen of Monro. The patients were managed by urgent implantation of an external ventricular drain in 1 case (followed by endoscopic surgery, after completing a diagnostic workup) and by urgent endoscopic surgery in 4 cases. Endoscopic surgery allowed the shrinkage and near-complete removal of the cysts in all cases. Use of neuronavigation and a laser were indispensable. All procedures were uneventful, resulting in restoration of normal neurological conditions. Long-term follow-up (> 2 years) was available for 2 patients, and no complications or recurrences occurred. CONCLUSIONS This case series emphasizes the necessity of an accurate and precise identification of the possible causes of triventricular hydrocephalus. Endoscopic surgery can be considered the ideal treatment of choroid plexus

MRI in aqueduct compression and obstructive hydrocephalus due to an ecstatic basilar artery.

PubMed

Branco, G; Goulão, A; Ferro, J M

1993-01-01

We describe a patient with an ecstatic basilar artery in whom MRI showed marked indentation of the floor of the third ventricle and backward displacement of the midbrain, probably causing aqueduct stenosis. It appeared likely that the associated hydrocephalus was due not only to any "water-hammer" effect, but also to occlusion of the aqueduct.

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

PubMed

Li, Jiali; Gao, Bei; Guan, Liping; Xiao, Xueshan; Zhang, Jianguo; Li, Shiqiang; Jiang, Hui; Jia, Xiaoyun; Yang, Jianhua; Guo, Xiangming; Yin, Ye; Wang, Jun; Zhang, Qingjiong

2015-06-01

MYP1 is a locus for X-linked syndromic and nonsyndromic high myopia. Recently, unique haplotypes in OPN1LW were found to be responsible for X-linked syndromic high myopia mapped to MYP1. The current study is to test if such variants in OPN1LW are also responsible for X-linked nonsyndromic high myopia mapped to MYP1. The proband of the family previously mapped to MYP1 was initially analyzed using whole-exome sequencing and whole-genome sequencing. Additional probands with early-onset high myopia were analyzed using whole-exome sequencing. Variants in OPN1LW were selected and confirmed by Sanger sequencing. Long-range and second PCR were used to determine the haplotype and the first gene of the red-green gene array. Candidate variants were further validated in family members and controls. The unique LVAVA haplotype in OPN1LW was detected in the family with X-linked nonsyndromic high myopia mapped to MYP1. In addition, this haplotype and a novel frameshift mutation (c.617_620dup, p.Phe208Argfs*51) in OPN1LW were detected in two other families with X-linked high myopia. The unique haplotype cosegregated with high myopia in the two families, with a maximum LOD score of 3.34 and 2.31 at θ = 0. OPN1LW with the variants in these families was the first gene in the red-green gene array and was not present in 247 male controls. Reevaluation of the clinical data in both families with the unique haplotype suggested nonsyndromic high myopia. Our study confirms the findings that unique variants in OPN1LW are responsible for both syndromic and nonsyndromic X-linked high myopia mapped to MYP1.

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.

PubMed

Kim, David Y; Mukai, Shizuo

2013-01-01

X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males. To date, more than 196 different mutations of the RS1 gene have been associated with XLRS. The mutation spectrum is large and the phenotype variable. This review will focus on the clinical features of XLRS and examine the relationship between phenotype and genotype.

Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage.

PubMed

Bevers, Matthew B; McGuone, Declan; Jerath, Nivedita U; Musolino, Patricia L

2016-07-01

We present a report of a 47-year-old woman with developmental delay who presented with subarachnoid hemorrhage and acute hydrocephalus. She did not have an aneurysm, but there was symmetric calcification and gadolinium-enhancement of the meninges within the Sylvian fissure. Biopsy and genetic testing confirmed transthyretin-type amyloidosis. It is important to consider such rare causes in atypical presentations of non-aneurysmal subarachnoid hemorrhage. Copyright © 2016 Elsevier Ltd. All rights reserved.

Negative-Pressure Hydrocephalus: A Case Report on Successful Treatment Under Intracranial Pressure Monitoring with Bilateral Ventriculoperitoneal Shunts.

PubMed

Pandey, Sajan; Jin, Yi; Gao, Liang; Zhou, Cheng Cheng; Cui, Da Ming

2017-03-01

Negative-pressure hydrocephalus (NegPH), a very rare condition of unknown etiology and optimal treatment, usually presents postneurosurgery with clinical and imaging features of hydrocephalus, but with negative cerebrospinal fluid pressure. We describe a NegPH case of -3 mm Hg intracranial pressure that was successfully treated to achieve 5 mm Hg under continuous intracranial pressure monitoring with horizontal positioning, head down and legs elevated to 10°-15°, neck wrapping for controlled venous drainage, chest and abdomen bandages, infusion of 5% dextrose fluid to lower plasma osmolarity (Na + , 130-135 mmol/L), daily cerebrospinal fluid drainage >200 mL, and arterial blood gas partial pressure of carbon dioxide >40 mm Hg. Copyright © 2016 Elsevier Inc. All rights reserved.

Ion beam sputter-etched ventricular catheter for hydrocephalus shunt

NASA Technical Reports Server (NTRS)

Banks, B. A. (Inventor)

1983-01-01

A cerebrospinal fluid shunt in the form of a ventricular catheter for controlling the condition of hydrocephalus by relieving the excessive cerebrospinal fluid pressure is described. A method for fabrication of the catheter and shunting the cerebral fluid from the cerebral ventricles to other areas of the body is also considered. Shunt flow failure occurs if the ventricle collapse due to improper valve function causing overdrainage. The ventricular catheter comprises a multiplicity of inlet microtubules. Each microtubule has both a large openings at its inlet end and a multiplicity of microscopic openings along its lateral surfaces.

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

PubMed Central

Rakhimova, Saule E.; Nigmatullina, Nazym B.; Momynaliev, Kuvat T.; Ramanculov, Yerlan M.

2015-01-01

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome. PMID:26168235

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

PubMed

Baikara, Barshagul T; Zholdybayeva, Elena V; Rakhimova, Saule E; Nigmatullina, Nazym B; Momynaliev, Kuvat T; Ramanculov, Yerlan M

2015-01-01

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome.

Trans aqueductal, third ventricle - Cervical subarachnoid stenting: An adjuvant cerebro spinal fluid diversion procedure in midline posterior fossa tumors with hydrocephalus: The technical note and case series.

PubMed

Teegala, Ramesh

2016-01-01

Persistent or progressive hydrocephalus is one of the complex problems of posterior fossa tumors associated with hydrocephalus. The author evaluated the effectiveness of single-stage tumor decompression associated with a stent technique (trans aqueductal third ventricle - Cervical subarachnoid stenting) as an adjuvant cerebro spinal fluid (CSF) diversion procedure in controlling the midline posterior fossa tumors with hydrocephalus. Prospective clinical case series of 15 patients was evaluated from July 2006 to April 2012. Fifteen clinicoradiological diagnosed cases of midline posterior fossa tumors with hydrocephalus were included in this study. All the tumors were approached through the cerebello medullary (telo velo tonsilar) fissure technique. Following the excision of the posterior fossa tumor, a sizable stent was placed across the aqueduct from the third ventricle to the cervical subarachnoid space. There were nine male and six female patients with an average age of 23 years. Complete tumor excision could be achieved in 12 patients and subtotal excision with clearance of aqueduct in remaining three patients. Hydrocephalus was controlled effectively in all the patients. There were no stent-related complications. This study showed the reliability of single-stage tumor excision followed by placement of aqueductal stent. The success rate of this technique is comparable to those of conventional CSF diversion procedures. This is a simple, safe, and effective procedure for the management of persistent and or progressive hydrocephalus. This technique may be very useful in situations where the patient's follow-up is compromised and the patients who are from a poor economic background. Long-term results need further evaluation to assess the overall functioning of this stent technique.

Magnetic resonance imaging indicators of blood-brain barrier and brain water changes in young rats with kaolin-induced hydrocephalus.

PubMed

Del Bigio, Marc R; Slobodian, Ili; Schellenberg, Angela E; Buist, Richard J; Kemp-Buors, Tanya L

2011-08-11

Hydrocephalus is associated with enlargement of cerebral ventricles. We hypothesized that magnetic resonance (MR) imaging parameters known to be influenced by tissue water content would change in parallel with ventricle size in young rats and that changes in blood-brain barrier (BBB) permeability would be detected. Hydrocephalus was induced by injection of kaolin into the cisterna magna of 4-week-old rats, which were studied 1 or 3 weeks later. MR was used to measure longitudinal and transverse relaxation times (T1 and T2) and apparent diffusion coefficients in several regions. Brain tissue water content was measured by the wet-dry weight method, and tissue density was measured in Percoll gradient columns. BBB permeability was measured by quantitative imaging of changes on T1-weighted images following injection of gadolinium diethylenetriamine penta-acetate (Gd-DTPA) tracer and microscopically by detection of fluorescent dextran conjugates. In nonhydrocephalic rats, water content decreased progressively from age 3 to 7 weeks. T1 and T2 and apparent diffusion coefficients did not exhibit parallel changes and there was no evidence of BBB permeability to tracers. The cerebral ventricles enlarged progressively in the weeks following kaolin injection. In hydrocephalic rats, the dorsal cortex was more dense and the white matter less so, indicating that the increased water content was largely confined to white matter. Hydrocephalus was associated with transient elevation of T1 in gray and white matter and persistent elevation of T2 in white matter. Changes in the apparent diffusion coefficients were significant only in white matter. Ventricle size correlated significantly with dorsal water content, T1, T2, and apparent diffusion coefficients. MR imaging showed evidence of Gd-DTPA leakage in periventricular tissue foci but not diffusely. These correlated with microscopic leak of larger dextran tracers. MR characteristics cannot be used as direct surrogates for water

Hydrocephalus in Dandy-Walker malformation.

PubMed

Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore, Maria Consiglio; Ruggiero, Claudio; Trischitta, Vincenzo; Aliberti, Ferdinando; Cinalli, Giuseppe

2011-10-01

Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of "Dandy-Walker". An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a "real" Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.

Successful endoscopic third ventriculostomy in children depends on age and etiology of hydrocephalus: outcome analysis in 51 pediatric patients.

PubMed

Duru, Soner; Peiro, Jose L; Oria, Marc; Aydin, Emrah; Subasi, Canan; Tuncer, Cengiz; Rekate, Harold L

2018-04-25

Endoscopic third ventriculostomy (ETV) has become the method of choice in the treatment of hydrocephalus. Age and etiology could determine success rates (SR) of ETV. The purpose of this study is to assess these factors in pediatric population. Retrospective study on 51 children with obstructive hydrocephalus that underwent ETV was performed. The patients were divided into three groups per their age at the time of the treatment: < 6, 6-24, and > 24 months of age. All ETV procedures were performed by the same neurosurgeon. Overall SR of ETV was 80% (40/51) for all etiologies and ages. In patients < 6 months of age SR was 56.2% (9/16), while 6-24 months of age was 88.9% (16/18) and > 24 months was 94.1% (16/17) (p = 0.012). The highest SR was obtained on aqueductal stenosis. SR of posthemorrhagic, postinfectious, and spina bifida related hydrocephalus was 60% (3/5), 50% (1/2), and 14.3% (1/7), respectively. While SR rate at the first ETV attempt was 85.3%, it was 76.9% in patients with V-P shunt performed previously (p = 0.000). Factors indicating a potential failure of ETV were young age and etiology such as spina bifida, other than isolated aqueductal stenosis. ETV is the method of choice even in patients with former shunting. Fast healing, distensible skulls, and lower pressure gradient in younger children, all can play a role in ETV failure. Based on our experience, ETV could be the first method of choice for hydrocephalus even in children younger than 6 months of age.

Design of Hydrogen Storage Alloys/Nanoporous Metals Hybrid Electrodes for Nickel-Metal Hydride Batteries.

PubMed

Li, M M; Yang, C C; Wang, C C; Wen, Z; Zhu, Y F; Zhao, M; Li, J C; Zheng, W T; Lian, J S; Jiang, Q

2016-06-07

Nickel metal hydride (Ni-MH) batteries have demonstrated key technology advantages for applications in new-energy vehicles, which play an important role in reducing greenhouse gas emissions and the world's dependence on fossil fuels. However, the poor high-rate dischargeability of the negative electrode materials-hydrogen storage alloys (HSAs) limits applications of Ni-MH batteries in high-power fields due to large polarization. Here we design a hybrid electrode by integrating HSAs with a current collector of three-dimensional bicontinuous nanoporous Ni. The electrode shows enhanced high-rate dischargeability with the capacity retention rate reaching 44.6% at a discharge current density of 3000 mA g(-1), which is 2.4 times that of bare HSAs (18.8%). Such a unique hybrid architecture not only enhances charge transfer between nanoporous Ni and HSAs, but also facilitates rapid diffusion of hydrogen atoms in HSAs. The developed HSAs/nanoporous metals hybrid structures exhibit great potential to be candidates as electrodes in high-performance Ni-MH batteries towards applications in new-energy vehicles.

Design of Hydrogen Storage Alloys/Nanoporous Metals Hybrid Electrodes for Nickel-Metal Hydride Batteries

PubMed Central

Li, M. M.; Yang, C. C.; Wang, C. C.; Wen, Z.; Zhu, Y. F.; Zhao, M.; Li, J. C.; Zheng, W. T.; Lian, J. S.; Jiang, Q.

2016-01-01

Nickel metal hydride (Ni-MH) batteries have demonstrated key technology advantages for applications in new-energy vehicles, which play an important role in reducing greenhouse gas emissions and the world’s dependence on fossil fuels. However, the poor high-rate dischargeability of the negative electrode materials—hydrogen storage alloys (HSAs) limits applications of Ni-MH batteries in high-power fields due to large polarization. Here we design a hybrid electrode by integrating HSAs with a current collector of three-dimensional bicontinuous nanoporous Ni. The electrode shows enhanced high-rate dischargeability with the capacity retention rate reaching 44.6% at a discharge current density of 3000 mA g−1, which is 2.4 times that of bare HSAs (18.8%). Such a unique hybrid architecture not only enhances charge transfer between nanoporous Ni and HSAs, but also facilitates rapid diffusion of hydrogen atoms in HSAs. The developed HSAs/nanoporous metals hybrid structures exhibit great potential to be candidates as electrodes in high-performance Ni-MH batteries towards applications in new-energy vehicles. PMID:27270184

Design of Hydrogen Storage Alloys/Nanoporous Metals Hybrid Electrodes for Nickel-Metal Hydride Batteries

NASA Astrophysics Data System (ADS)

Li, M. M.; Yang, C. C.; Wang, C. C.; Wen, Z.; Zhu, Y. F.; Zhao, M.; Li, J. C.; Zheng, W. T.; Lian, J. S.; Jiang, Q.

2016-06-01

Nickel metal hydride (Ni-MH) batteries have demonstrated key technology advantages for applications in new-energy vehicles, which play an important role in reducing greenhouse gas emissions and the world’s dependence on fossil fuels. However, the poor high-rate dischargeability of the negative electrode materials—hydrogen storage alloys (HSAs) limits applications of Ni-MH batteries in high-power fields due to large polarization. Here we design a hybrid electrode by integrating HSAs with a current collector of three-dimensional bicontinuous nanoporous Ni. The electrode shows enhanced high-rate dischargeability with the capacity retention rate reaching 44.6% at a discharge current density of 3000 mA g-1, which is 2.4 times that of bare HSAs (18.8%). Such a unique hybrid architecture not only enhances charge transfer between nanoporous Ni and HSAs, but also facilitates rapid diffusion of hydrogen atoms in HSAs. The developed HSAs/nanoporous metals hybrid structures exhibit great potential to be candidates as electrodes in high-performance Ni-MH batteries towards applications in new-energy vehicles.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

PubMed

Schneider, Holm; Faschingbauer, Florian; Schuepbach-Mallepell, Sonia; Körber, Iris; Wohlfart, Sigrun; Dick, Angela; Wahlbuhl, Mandy; Kowalczyk-Quintas, Christine; Vigolo, Michele; Kirby, Neil; Tannert, Corinna; Rompel, Oliver; Rascher, Wolfgang; Beckmann, Matthias W; Schneider, Pascal

2018-04-26

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).

Negative-pressure and low-pressure hydrocephalus: the role of cerebrospinal fluid leaks resulting from surgical approaches to the cranial base.

PubMed

Filippidis, Aristotelis S; Kalani, M Yashar S; Nakaji, Peter; Rekate, Harold L

2011-11-01

Negative-pressure and low-pressure hydrocephalus are rare clinical entities that are frequently misdiagnosed. They are characterized by recurrent episodes of shunt failure because the intracranial pressure is lower than the opening pressure of the valve. In this report the authors discuss iatrogenic CSF leaks as a cause of low- or negative-pressure hydrocephalus after approaches to the cranial base. The authors retrospectively reviewed cases of low-pressure or negative-pressure hydrocephalus presenting after cranial approaches complicated with a CSF leak at their institution. Three patients were identified. Symptoms of high intracranial pressure and ventriculomegaly were present, although the measured pressures were low or negative. A blocked communication between the ventricles and the subarachnoid space was documented in 2 of the cases and presumed in the third. Shunt revisions failed repeatedly. In all cases, temporary clinical and radiographic improvement resulted from external ventricular drainage at subatmospheric pressures. The CSF leaks were sealed and CSF communication was reestablished operatively. In 1 case, neck wrapping was used with temporary success. Negative-pressure or low-pressure hydrocephalus associated with CSF leaks, especially after cranial base approaches, is difficult to treat. The solution often requires the utilization of subatmospheric external ventricular drains to establish a lower ventricular drainage pressure than the drainage pressure created in the subarachnoid space, where the pressure is artificially lowered by the CSF leak. Treatment involves correction of the CSF leak, neck wrapping to increase brain turgor and allow the pressure in the ventricles to rise to the level of the opening pressure of the valve, and reestablishing the CSF route.

A wireless monitoring system for Hydrocephalus shunts.

PubMed

Narayanaswamy, A; Nourani, M; Tamil, L; Bianco, S

2015-08-01

Patients with Hydrocephalus are usually treated by diverting the excess Cerebrospinal Fluid (CSF) to other parts of the body using shunts. More than 40 percentage of shunts implanted fail within the first two years. Obstruction in the shunts is one of the major causes of failure (45 percent) and the detection of obstruction reduces the complexity of the revision surgery. This paper describes a proposed wireless monitoring system for clog detection and flow measurement in shunts. A prototype was built using multiple pressure sensors along the shunt catheters for sensing the location of clog and flow rate. Regular monitoring of flow rates can be used to adjust the valve in the shunt to prevent over drainage or under drainage of CSF. The accuracy of the flow measurement is more than 90 percent.

Idiopathic normal pressure hydrocephalus: theoretical concept of a spinal etiology.

PubMed

Hamlat, Abderrahmane; Abderrahmane, Hamlat; Sid-Ahmed, Seddik; Seddik, Sid-Ahmed; Adn, Mahmoudreza; Mahmoudreza, Adn; Askar, Brahim; Brahim, Askar; Pasqualini, Edouardo; Edouardo, Pasqualini

2006-01-01

Normal pressure hydrocephalus (NPH) is an adult syndrome characterised by a combination of gait disturbance, varying degrees of cognitive decline, urinary incontinence, ventricular enlargement and normal mean intracranial pressure. Since this syndrome was first described, its pathophysiology has been a matter of great debate, although it is now considered that NPH could be divided into two groups: cases with unknown etiology (idiopathic normal pressure hydrocephalus, or INPH) and those which develop from several known causes (such as trauma, meningitis or subarachnoid haemorrhage). The pathophysiology of INPH is still unclear and a matter of debate. In this manuscript, the current pathophysiological conditions of INPH are analysed and the authors put forward the theory that the disease is a dynamic syndrome which occurs in patients who have suffered a significant loss of spinal compliance over time. Consequently, intracranial pressure increases more during systole in INPH patients because it cannot be compensated for by the escape of CSF into the spinal canal as effectively, due to the reduced volume or lack of distension of the spinal canal. This leads to an increase in ventricular size and causes cumulative brain damage over a long period of time and accounts for the slow, progressive nature of NPH. The loss of spinal compliance with age is fundamental to the proposed theory which provides a theoretical justification for studying the spinal canal in INPH and investigating the relationship between the progressive narrowing of the spinal canal and the compensating ability of the craniospinal system.

Quality of Life in Individuals Surgically Treated for Congenital Hydrocephalus During Infancy: A Single-Institution Experience.

PubMed

Khan, Saad Akhtar; Khan, Muhammad Faheem; Bakhshi, Saqib Kamran; Irfan, Omar; Khan, Hamza Abdur Rahim; Abbas, Asad; Awan, Safia; Bari, Muhammad Ehsan

2017-05-01

Congenital hydrocephalus (CH) is a frequently encountered birth anomaly that can hinder long-term neurologic maturity and social well-being of affected children. This study was undertaken to assess quality of life (QOL) 10-15 years after surgical treatment for primary CH during infancy at a tertiary care hospital in a developing country. This retrospective cohort study included individuals who presented to Aga Khan University Hospital, Karachi, Pakistan, between 1995 and 2005 at <1 year old and underwent surgery for primary CH. The Hydrocephalus Outcome Questionnaire was used to assess outcomes with respect to QOL. Of 118 patients, 90 patients participated in the study. Mean age at first admission was 6.2 months. Mean length of follow-up was 5.4 years. Of these, 28 patients had died after surgery. Shunt infection (P = 0.012) and delayed milestones (P = 0.003) were found to be statistically significant factors affecting mortality in the patients who died. The mean overall health score was 0.67 ± 0.30. Age <6 months at the time of first surgery was a poor predictor of overall health on the Hydrocephalus Outcome Questionnaire (P = 0.039). In our analysis, we assessed the QOL associated with CH. We hope that these results will provide insight for future prospective work with the ultimate goal of improving long-term QOL in children with CH. Copyright © 2017 Elsevier Inc. All rights reserved.

Cognitive changes after cerebrospinal fluid shunting in young adults with spina bifida and assumed arrested hydrocephalus

PubMed Central

Mataro, M.; Poca, M. A.; Sahuquillo, J.; Cuxart, A.; Iborra, J.; de la Calzada, M. D.; Junque, C.

2000-01-01

OBJECTIVES—To establish whether surgery can improve the neuropsychological functioning of young adult patients with spina bifida and apparent clinically arrested hydrocephalus showing abnormal intracranial pressure.
METHODS—Twenty three young adults with spina bifida and assumed arrested hydrocephalus (diagnosed as active or compensated by continuous intracranial pressure monitoring) underwent surgery. All patients received neuropsychological examination before surgery and 6 months later. Neuropsychological assessment included tests of verbal and visual memory, visuospatial functions, speed of mental processing, and frontal lobe functions.
RESULTS—Shunt placement in this subgroup of patients improves neuropsychological functioning, especially in verbal and visual memory and attention and cognitive flexibility.
CONCLUSIONS—Young adults with spina bifida and suspected non-functioning shunt or non-shunted ventriculomegaly should be carefully monitored to identify those who could benefit from shunting.

 PMID:10766893

Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis

PubMed Central

Bush, Ronald A.; Wei, Lisa L.; Sieving, Paul A.

2015-01-01

Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. Although discovered in 1898 by Haas in two brothers, the underlying biology leading to blindness has become apparent only in the last 15 years with the advancement of human genetic analyses, generation of XLRS animal models, and the development of ocular monitoring methods such as the electroretinogram and optical coherence tomography. It is now recognized that retinoschisis results from cyst formations within the retinal layers that interrupt normal visual neurosignaling and compromise structural integrity. Mutations in the human retinoschisin gene have been correlated with disease severity of the human XLRS phenotype. Introduction of a normal human retinoschisin cDNA into retinoschisin knockout mice restores retinal structure and improves neural function, providing proof-of-concept that gene replacement therapy is a plausible treatment for XLRS. PMID:26101206

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

PubMed

Bauters, Marijke; Frints, Suzanna G; Van Esch, Hilde; Spruijt, Liesbeth; Baldewijns, Marcella M; de Die-Smulders, Christine E M; Fryns, Jean-Pierre; Marynen, Peter; Froyen, Guy

2014-08-01

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from 138.7 to 139.8 Mb, harboring only two annotated genes, SOX3 and ATP11C, and was shown to be a direct tandem copy number gain. Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that SOX3 duplications have variable penetrance for X-linked hypopituitarism. In the same family, a female fetus presenting with a neural tube defect was also shown to carry the SOX3 copy number gain. Since we also demonstrated increased SOX3 mRNA levels in amnion cells derived from an unrelated t(X;22)(q27;q11) female fetus with spina bifida, we propose that increased levels of SOX3 could be a risk factor for neural tube defects. © 2014 Wiley Periodicals, Inc.

The Relationship of Intelligence and Cerebral Mantle in Treated Infantile Hydrocephalus (IQ Potential in Hydrocephalic Children)

ERIC Educational Resources Information Center

Young, Harold F.; And Others

1973-01-01

Analyzed were 147 patients (between 3 and 20 years) with hydrocephalus (an accumulation of fluid in the brain) who had been treated by valve regulated ventriculovenous shunt to determine the relationship between early surgical intervention and later IQ. (DB)

Rate of shunt revision as a function of age in patients with shunted hydrocephalus due to myelomeningocele.

PubMed

Dupepe, Esther B; Hopson, Betsy; Johnston, James M; Rozzelle, Curtis J; Jerry Oakes, W; Blount, Jeffrey P; Rocque, Brandon G

2016-11-01

OBJECTIVE It is generally accepted that cerebrospinal fluid shunts fail most frequently in the first years of life. The purpose of this study was to describe the risk of shunt failure for a given patient age in a well-defined cohort with shunted hydrocephalus due to myelomeningocele (MMC). METHODS The authors analyzed data from their institutional spina bifida research database including all patients with MMC and shunted hydrocephalus. For the entire population, the number of shunt revisions in each year of life was determined. Then the number of patients at risk for shunt revision during each year of life was calculated, thus enabling them to calculate the rate of shunt revision per patient in each year of life. In this way, the timing of all shunt revision operations for the entire clinic population and the likelihood of having a shunt revision during each year of life were calculated. RESULTS A total of 655 patients were enrolled in the spina bifida research database, 519 of whom had a diagnosis of MMC and whose mean age was 17.48 ± 11.7 years (median 16 years, range 0-63 years). Four hundred seventeen patients had had a CSF shunt for the treatment of hydrocephalus and thus are included in this analysis. There were 94 shunt revisions in the 1st year of life, which represents a rate of 0.23 revisions per patient in that year. The rate of shunt revision per patient-year initially decreased as age increased, except for an increase in revision frequency in the early teen years. Shunt revisions continued to occur as late as 43 years of age. CONCLUSIONS These data substantiate the idea that shunt revision surgeries in patients with MMC are most common in the 1st year of life and decrease thereafter, except for an increase in the early teen years. A persistent risk of shunt failure was observed well into adult life. These findings underscore the importance of routine follow-up of all MMC patients with shunted hydrocephalus and will aid in counseling patients and

The Language of Children with Spina Bifida and Hydrocephalus: Meeting Task Demands and Mastering Syntax.

ERIC Educational Resources Information Center

Byrne, Karen; And Others

1990-01-01

Linguistic performance of 7 children (mean age=68 months) with spina bifida, hydrocephalus, and average intelligence was evaluated. Subjects dealt with the semantic-pragmatic requirements of linguistically posed problems in an age-appropriate manner. Performance declined as task demands increased but no more than performance of nondisabled…

Finding genes on the X chromosome by which homo may have become sapiens

DOE Office of Scientific and Technical Information (OSTI.GOV)

Turner, G.

1996-06-01

The map of the X chromosome is now littered, from one telomere to the other, with genes for mental handicap, alone or in combination with other features. In this issue of the journal, report such an entity from the Scottish Highlands, which they give the catchy title of {open_quotes}PPM-X syndrome,{close_quotes} denoting the association of pyramidal tract signs, psychosis, and macroorchidism with mental handicap (XLMR). They have localized this to Xq28 and discuss other genes in the same area, which include L1CAM (associated with MASA [mental retardation, aphasia, shuffling gait, and adducted thumbs] and X-linked hydrocephalus) and two genes for nonspecificmore » XLMR-MRX3 and MRX25. It is also the localization of the gene for G6PD deficiency, which, in earlier studies, had demonstrated linkage to bipolar affective disorders, although this has been questioned in more recent studies. There may well be other families with this pattern of abnormalities who have remained undescribed because depression is so often not diagnosed in those with moderate mental handicap. The occurrence, in this family, of mental handicap with a bipolar disorder may be the chance association of two common disorders, or it may a significant association; at this stage, one cannot judge. 8 refs.« less

Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rossbach, H.C.; Granan, N.H.; Rossi, A.R.

1996-01-02

Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconimore » anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.« less

Psychotic symptoms in normal-pressure hydrocephalus.

PubMed

Lying-Tunell, U

1979-04-01

Two patients with a psychiatric history of about 20 years, and clinical and neuroradiological signs of normal-pressure hydrocephalus (NPH) are reported. One had a periodic psychosis subsequent to a tuberculous meningitis, and this overshadowed the slight classical symptoms of NPH. She had received at least 120 treatments with electro-convulsive therapy. The second patient suffered from a paranoid psychosis; other signs of NPH were moderate though progressive. Both patients showed definite improvement of their NPH symptoms after ventriculo-atrial shunting, and psychotic symptoms ceased totally. Follow-up was 5 years for the patient with periodic psychosis. The other patient died from septicaemia 2.5 years after shunting. A large-scale screening of patients with psychiatric symptoms or dementia, particularly when combined with gait disturbance, should be done by using computerized tomography. Patients suspected of having NPH should then be referred for further examination with the aim of selecting patients suitable for shunting. These measures seem well motivated from humanitarian as well as economic points of view.

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

PubMed Central

Barmettler, Sara; Otani, Iris M.; Minhas, Jasmit; Abraham, Roshini S.; Chang, Yenhui; Dorsey, Morna J.; Ballas, Zuhair K.; Bonilla, Francisco A.; Ochs, Hans D.; Walter, Jolan E.

2017-01-01

Purpose X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in XLA, the spectrum of gastrointestinal manifestations has not previously been fully explored. Methods We present a case report of a family with two affected patients with XLA. Given the gastrointestinal involvement of the grandfather in this family, we performed a retrospective descriptive analysis of XLA patients with reported diagnoses of GI manifestations and inflammatory bowel disease (IBD) or enteritis registered at the USIDNet, a national registry of primary immunodeficiencies. Results In this cohort of patients with XLA, we found that up to 35% had concurrent gastrointestinal manifestations, and 10% had reported diagnoses of IBD or enteritis. The most commonly reported mutations were missense, which have been associated with a less severe XLA phenotype in the literature. The severity of symptoms were wide-ranging, and management strategies were diverse and mainly experimental. Conclusions Patients with XLA may require close monitoring with particular attention for GI manifestations including IBD and infectious enteritis. Further studies are needed to improve diagnosis and management of GI conditions in XLA patients. PMID:28236219

Shunt-dependent hydrocephalus: management style among members of the American Society of Pediatric Neurosurgeons.

PubMed

Kraemer, Mark R; Sandoval-Garcia, Carolina; Bragg, Taryn; Iskandar, Bermans J

2017-09-01

OBJECTIVE The authors conducted a survey to evaluate differences in the understanding and management of shunt-dependent hydrocephalus among members of the American Society of Pediatric Neurosurgeons (ASPN). METHODS Surveys were sent to all 204 active ASPN members in September 2014. One hundred thirty responses were received, representing a 64% response rate. Respondents were asked 13 multiple-choice and free-response questions regarding 4 fundamental problems encountered in shunted-hydrocephalus management: shunt malfunction, chronic cerebrospinal fluid (CSF) overdrainage, chronic headaches, and slit ventricle syndrome (SVS). RESULTS Respondents agreed that shunt malfunction occurs most often as the result of ventricular catheter obstruction. Despite contrary evidence in the literature, most respondents (66%) also believed that choroid plexus is the tissue most often found in obstructed proximal catheters. However, free-text responses revealed that the respondents' understanding of the underlying pathophysiology of shunt obstruction was highly variable and included growth, migration, or adherence of choroid plexus, CSF debris, catheter position, inflammatory processes, and CSF overdrainage. Most respondents considered chronic CSF overdrainage to be a rare complication of shunting in their practice and reported wide variation in treatment protocols. Moreover, despite a lack of evidence in the literature, most respondents attributed chronic headaches in shunt patients to medical reasons (for example, migraines, tension). Accordingly, most respondents managed headaches with reassurance and/or referral to pain clinics. Lastly, there were variable opinions on the etiology of slit ventricle syndrome (SVS), which included early shunting, chronic overdrainage, and/or loss of brain compliance. Beyond shunt revision, respondents reported divergent SVS treatment preferences. CONCLUSIONS The survey shows that there is wide variability in the understanding and management of

Conditional N-WASP knockout in mouse brain implicates actin cytoskeleton regulation in hydrocephalus pathology.

PubMed

Jain, Neeraj; Lim, Lee Wei; Tan, Wei Ting; George, Bhawana; Makeyev, Eugene; Thanabalu, Thirumaran

2014-04-01

Cerebrospinal fluid (CSF) is produced by the choroid plexus and moved by multi-ciliated ependymal cells through the ventricular system of the vertebrate brain. Defects in the ependymal layer functionality are a common cause of hydrocephalus. N-WASP (Neural-Wiskott Aldrich Syndrome Protein) is a brain-enriched regulator of actin cytoskeleton and N-WASP knockout caused embryonic lethality in mice with neural tube and cardiac abnormalities. To shed light on the role of N-WASP in mouse brain development, we generated N-WASP conditional knockout mouse model N-WASP(fl/fl); Nestin-Cre (NKO-Nes). NKO-Nes mice were born with Mendelian ratios but exhibited reduced growth characteristics compared to their littermates containing functional N-WASP alleles. Importantly, all NKO-Nes mice developed cranial deformities due to excessive CSF accumulation and did not survive past weaning. Coronal brain sections of these animals revealed dilated lateral ventricles, defects in ciliogenesis, loss of ependymal layer integrity, reduced thickness of cerebral cortex and aqueductal stenosis. Immunostaining for N-cadherin suggests that ependymal integrity in NKO-Nes mice is lost as compared to normal morphology in the wild-type controls. Moreover, scanning electron microscopy and immunofluorescence analyses of coronal brain sections with anti-acetylated tubulin antibodies revealed the absence of cilia in ventricular walls of NKO-Nes mice indicative of ciliogenesis defects. N-WASP deficiency does not lead to altered expression of N-WASP regulatory proteins, Fyn and Cdc42, which have been previously implicated in hydrocephalus pathology. Taken together, our results suggest that N-WASP plays a critical role in normal brain development and implicate actin cytoskeleton regulation as a vulnerable axis frequently deregulated in hydrocephalus. Copyright © 2014 Elsevier Inc. All rights reserved.

Magnesium sulfate treatment for juvenile ferrets following induction of hydrocephalus with kaolin.

PubMed

Di Curzio, Domenico L; Turner-Brannen, Emily; Mao, Xiaoyan; Del Bigio, Marc R

2016-04-27

Previous work with 3-week hydrocephalic rats showed that white matter damage could be reduced by the calcium channel antagonist magnesium sulfate (MgSO4). We hypothesized that MgSO4 therapy would improve outcomes in ferrets with hydrocephalus induced with kaolin at 15 days. MRI was performed at 29 days to assess ventricle size and stratify ferrets to treatment conditions. Beginning at 31 days age, they were treated daily for 14 days with MgSO4 (9 mM/kg/day) or sham saline therapy, and then imaged again before sacrifice. Behavior was examined thrice weekly. Histological and biochemical ELISA and myelin enzyme activity assays were performed at 46 days age. Hydrocephalic ferrets exhibited some differences in weight and behavior between treatment groups. Those receiving MgSO4 weighed less, were more lethargic, and displayed reduced activity compared to those receiving saline injections. Hydrocephalic ferrets developed ventriculomegaly, which was not modified by MgSO4 treatment. Histological examination showed destruction of periventricular white matter. Glial fibrillary acidic protein content, myelin basic protein content, and myelin enzyme activity did not differ significantly between treatment groups. The hydrocephalus-associated disturbances in juvenile ferret brains are not ameliorated by MgSO4 treatment, and lethargy is a significant side effect.

Posttraumatic hydrocephalus: a clinical, neuroradiologic, and neuropsychologic assessment of long-term outcome.

PubMed

Mazzini, Letizia; Campini, Riccardo; Angelino, Elisabetta; Rognone, Felice; Pastore, Ilaria; Oliveri, Giuseppe

2003-11-01

To detect the clinical and radiologic characteristics of posttraumatic hydrocephalus (PTH), to define its prognostic value, and to assess the effects of shunt surgery. Correlational study on a prospective cohort. Brain injury rehabilitation center. One hundred forty patients with severe traumatic brain injury (TBI) referred to an inpatient intensive rehabilitation unit of primary care in a university-based system. Not applicable. The Glasgow Outcome Scale (GOS), Disability Rating Scale (DRS), FIM instrument, and Neurobehavioural Rating Scale (NRS), as well as single-photon emission computed tomography (SPECT) and magnetic resonance imaging. PTH was found in 45% of patients. Risk factors for PTH were as follows: age (P<.04), duration of coma (P<.0001), and decompressive craniectomy (P<.0001). PTH correlated with the degree of hypoperfusion in the temporal lobes (P<.001). Patients who showed clinical deterioration improved after surgery. PTH correlated significantly with GOS, DRS, FIM, and NRS (P<.0001) 1 year after the trauma, and it influenced the appearance of posttraumatic epilepsy (P<.02). PTH concerns about 50% of patients with severe TBI. It influences functional and behavioral outcome and the appearance of posttraumatic epilepsy. The selection of patients for surgery can be defined principally on a clinical basis. SPECT may be helpful for differentiating ventricular enlargement due to cortical atrophy and hydrocephalus.

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

PubMed

Yanagi, Kumiko; Kaname, Tadashi; Wakui, Keiko; Hashimoto, Ohiko; Fukushima, Yoshimitsu; Naritomi, Kenji

2012-01-01

Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered.

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

PubMed Central

Yanagi, Kumiko; Kaname, Tadashi; Wakui, Keiko; Hashimoto, Ohiko; Fukushima, Yoshimitsu; Naritomi, Kenji

2012-01-01

Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered. PMID:22934180

Predictors of Shunt-dependent Hydrocephalus After Aneurysmal Subarachnoid Hemorrhage? A Systematic Review and Meta-Analysis.

PubMed

Xie, Zhiyi; Hu, Xin; Zan, Xin; Lin, Sen; Li, Hao; You, Chao

2017-10-01

Hydrocephalus is a well-recognized complication after aneurysmal subarachnoid hemorrhage (aSAH). This study aimed to identify predictors for shunt-dependent hydrocephalus (SDHC) after aSAH via a systematic review and meta-analysis. A systematic search was conducted using the Embase, MEDLINE, and Web of Science databases for studies pertaining to aSAH and SDHC. Risk factors were assessed by meta-analysis when they were reported by at least 2 studies. The results were presented as odd ratios or risk ratios according to the study design with the corresponding 95% confidence intervals (CI). Twenty-five studies were included. In primary analysis of 14 potential risk factors, 12 were identified as predictors of SDHC after aSAH including age ≥50 years, female gender, high Hunt-Hess grade, Glasgow Coma Scale ≤8, Fisher grade ≥3, acute hydrocephalus, external ventricular drainage insertion, intraventricular hemorrhage, postcirculation aneurysm, anterior communicating artery aneurysm, meningitis, and rebleeding. The meta-analysis based on cohort studies found a significantly increased risk for SDHC in patients with aSAH treated by coiling (risk ratio, 1.16; 95% CI, 1.05-1.29), while the meta-analysis based on case-controlled studies failed to replicate this finding (odds ratio, 1.27; 95% CI, 0.95-1.71). Several new predictors of SDHC after aSAH were identified that may assist with the early recognition and prevention of SDHC. The controversial evidence found in this study was insufficient to support the potential of neurosurgical clipping for reducing the risk of shunt dependency. Further well-designed studies are warranted to explore the effect of treatment modality on SDHC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

Endoscopic transaqueductal placement of a single-catheter cyst-ventriculoperitoneal shunt in a neonate with Dandy-Walker malformation-associated hydrocephalus: case report.

PubMed

Morigaki, Ryoma; Pooh, Kyong-Hon; Nakagawa, Yoshinobu

2011-01-01

A neonate with hydrocephalus associated with Dandy-Walker malformation was successfully treated with an endoscopic placement of a transaqueductal ventricular single catheter. The modified catheter was provided with additional fenestration on its proximal side to allow simultaneous drainage from both the supra- and infratentorial compartments. This technique is well known for isolated fourth ventricles, but has not been applied to hydrocephalus associated with Dandy-Walker malformation. The cyst-ventriculoperitoneal shunt effectively drained both compartments. The patient was doing well 18 months after the surgical procedure. Endoscopic transaqueductal shunt placement can be considered, especially in patients with aqueductal patency.

MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family.

PubMed

Broides, A; Shubinsky, G; Parvari, R; Grimbacher, B; Somech, R; Garty, B Z; Levy, J

2009-08-01

Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.

Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition.

PubMed

Vawter, Marquis P; Harvey, Philip D; DeLisi, Lynn E

2007-09-05

Klinefelter's Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini-Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression-cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Overexpression of one pseudoautosomal gene, GTPBP6 (GTP binding protein 6, putative) was inversely correlated with verbal IQ (r = -0.86, P < 0.001) and four other measures of verbal ability. Overexpression of XIST was found in KS compared to XY controls suggesting that silencing of many genes on the X chromosome might occur in KS similar to XX females. The microarray findings for eight DEGs were validated by quantitative PCR. The 14 X chromosome DEGs were not differentially expressed in prior studies comparing female and male brains suggesting a dysregulation profile unique to KS. Examination of X-linked DEGs, such as GTPBP6, TAF9L, and CXORF21, that show verbal cognition-gene expression correlations may establish a causal link between these genes, neurodevelopment, and language function. A screen of candidate genes may serve as biomarkers of KS for early diagnosis. Copyright 2007 Wiley-Liss, Inc.

An Ethyl-Nitrosourea-Induced Point Mutation in Phex Causes Exon Skipping, X-Linked Hypophosphatemia, and Rickets

PubMed Central

Carpinelli, Marina R.; Wicks, Ian P.; Sims, Natalie A.; O’Donnell, Kristy; Hanzinikolas, Katherine; Burt, Rachel; Foote, Simon J.; Bahlo, Melanie; Alexander, Warren S.; Hilton, Douglas J.

2002-01-01

We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G1) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pattern of inheritance. The causative mutation, named Skeletal abnormality 1 (Ska1), was shown to be a single base pair mutation in a splice donor site immediately following exon 8 of the Phex (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) gene. This point mutation caused skipping of exon 8 from Phex mRNA, hypophosphatemia, and features of rickets. This experimentally induced phenotype mirrors the human condition X-linked hypophosphatemia; directly confirms the role of Phex in phosphate homeostasis, normal skeletal development, and rickets; and illustrates the power of mutagenesis in exploring animal models of human disease. PMID:12414538

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

PubMed

Carpinelli, Marina R; Wicks, Ian P; Sims, Natalie A; O'Donnell, Kristy; Hanzinikolas, Katherine; Burt, Rachel; Foote, Simon J; Bahlo, Melanie; Alexander, Warren S; Hilton, Douglas J

2002-11-01

We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G(1)) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pattern of inheritance. The causative mutation, named Skeletal abnormality 1 (Ska1), was shown to be a single base pair mutation in a splice donor site immediately following exon 8 of the Phex (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) gene. This point mutation caused skipping of exon 8 from Phex mRNA, hypophosphatemia, and features of rickets. This experimentally induced phenotype mirrors the human condition X-linked hypophosphatemia; directly confirms the role of Phex in phosphate homeostasis, normal skeletal development, and rickets; and illustrates the power of mutagenesis in exploring animal models of human disease.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

PubMed

Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

2014-09-01

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study.

PubMed

Hong, Che Ry; Kang, Hee Gyung; Choi, Hyun Jin; Cho, Min Hyun; Lee, Jung Won; Kang, Ju Hyung; Park, Hye Won; Koo, Ja Wook; Ha, Tae-Sun; Kim, Su-Yung; Il Cheong, Hae

2014-01-01

A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations. In an analysis of male patients, the median age at diagnosis was 0.9 years old. At a median follow-up of 5.4 years, urinary tract dilatations were evident in 62% of patients and their median glomerular filtration rate was 72 mL/min/1.73 m2. Weights and heights were under the 3rd percentile in 22% and 33% of patients, respectively. One patient had low intelligence quotient and another developed end-stage renal disease. No statistically significant genotype-phenotype correlation was found between non-truncating and truncating mutations. One patient was female; she was analyzed separately because inactivation and mosaicism of the X chromosome may influence clinical manifestations in female patients. Current unsatisfactory long-term outcome of congenital NDI necessitates a novel therapeutic strategy.

Four-Year Placebo-Controlled Trial of Docosahexaenoic Acid in X-Linked Retinitis Pigmentosa (DHAX Trial)

PubMed Central

Hoffman, Dennis R.; Hughbanks-Wheaton, Dianna K.; Pearson, N. Shirlene; Fish, Gary E.; Spencer, Rand; Takacs, Alison; Klein, Martin; Locke, Kirsten G.; Birch, David G.

2016-01-01

IMPORTANCE X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100 000 persons. Because no cure is available for this orphan disease and treatment options are limited, slowing of disease progression would be a meaningful outcome. OBJECTIVE To determine whether high-dose docosahexaenoic acid (DHA), an ω-3 polyunsaturated fatty acid, slows progression of X-linked retinitis pigmentosa measured by cone electroretinography (ERG). DESIGN, SETTING, AND PARTICIPANTS A 4-year, single-site, randomized, placebo-controlled, double-masked phase 2 clinical trial at a research center specializing in medical retina. Seventy-eight male patients diagnosed as having X-linked retinitis pigmentosa were randomized to DHA or placebo. Data were omitted for 2 patients with non–X-linked retinitis pigmentosa and 16 patients who were unable to follow protocol during the first year. The remaining participants were tested annually and composed a modified intent-to-treat cohort (DHA group, n = 33; placebo group, n = 27). INTERVENTIONS All participants received a multivitamin and were randomly assigned to oral DHA (30 mg/kg/d) or placebo. MAIN OUTCOMES AND MEASURES The primary outcome was the rate of loss of cone ERG function. Secondary outcomes were rod and maximal ERG amplitudes and cone ERG implicit times. Capsule counts and red blood cell DHA levels were assessed to monitor adherence. RESULTS Average (6-month to 4-year) red blood cell DHA levels were 4-fold higher in the DHA group than in the placebo group (P < .001). There was no difference between the DHA and placebo groups in the rate of cone ERG functional loss (0.028 vs 0.022 log µV/y, respectively; P = .30). No group differences were evident for change in rod ERG (P = .27), maximal ERG (P = .65), or cone implicit time (no change over 4 years). The rate of cone loss (ie, event rate) was markedly reduced compared with rates in previous studies. No severe treatment-emergent adverse

Endoscopic third ventriculostomy in children: prospective, multicenter results from the Hydrocephalus Clinical Research Network.

PubMed

Kulkarni, Abhaya V; Riva-Cambrin, Jay; Holubkov, Richard; Browd, Samuel R; Cochrane, D Douglas; Drake, James M; Limbrick, David D; Rozzelle, Curtis J; Simon, Tamara D; Tamber, Mandeep S; Wellons, John C; Whitehead, William E; Kestle, John R W

2016-10-01

OBJECTIVE Endoscopic third ventriculostomy (ETV) is now established as a viable treatment option for a subgroup of children with hydrocephalus. Here, the authors report prospective, multicenter results from the Hydrocephalus Clinical Research Network (HCRN) to provide the most accurate determination of morbidity, complication incidence, and efficacy of ETV in children and to determine if intraoperative predictors of ETV success add substantially to preoperative predictors. METHODS All children undergoing a first ETV (without choroid plexus cauterization) at 1 of 7 HCRN centers up to June 2013 were included in the study and followed up for a minimum of 18 months. Data, including detailed intraoperative data, were prospectively collected as part of the HCRN's Core Data Project and included details of patient characteristics, ETV failure (need for repeat hydrocephalus surgery), and, in a subset of patients, postoperative complications up to the time of discharge. RESULTS Three hundred thirty-six eligible children underwent initial ETV, 18.8% of whom had undergone shunt placement prior to the ETV. The median age at ETV was 6.9 years (IQR 1.7-12.6), with 15.2% of the study cohort younger than 12 months of age. The most common etiologies were aqueductal stenosis (24.8%) and midbrain or tectal lesions (21.2%). Visible forniceal injury (16.6%) was more common than previously reported, whereas severe bleeding (1.8%), thalamic contusion (1.8%), venous injury (1.5%), hypothalamic contusion (1.5%), and major arterial injury (0.3%) were rare. The most common postoperative complications were CSF leak (4.4%), hyponatremia (3.9%), and pseudomeningocele (3.9%). New neurological deficit occurred in 1.5% cases, with 0.5% being permanent. One hundred forty-one patients had documented failure of their ETV requiring repeat hydrocephalus surgery during follow-up, 117 of them during the first 6 months postprocedure. Kaplan-Meier rates of 30-day, 90-day, 6-month, 1-year, and 2-year failure

Colour vision abnormality as the only manifestation of normal pressure hydrocephalus.

PubMed

Asensio-Sánchez, V M; Martín-Prieto, A

2018-01-01

The case is presented of a 73-year-old male patient who referred to having black and white vision. Computed tomography showed normal pressure hydrocephalus (NPH). Magnetic resonance imaging was not performed because the patient refused to undergo further examinations. Achromatopsia may be the first or only NPH symptom. It may be prudent to ask patients with NPH regarding colour vision. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.

PubMed

Bradshaw, K D; Carr, B R

1986-07-01

PSD-X-linked ichthyosis are manifestations of a similar disorder of an inborn error of metabolism characterized by a deficiency of steroid sulfatase. The decreased enzyme activity is due to the absence of the expression of enzyme (steroid sulfatase) protein. Affected individuals with this disorder are males (X-linked inheritance) with a frequency of 1/2000 to 1/6000 births. Homozygous females from cosanguineous marriages have been reported with this disorder. The diagnosis is suspected and confirmed by: Low estriol excretion; Negative DHEAS loading test Increased DHEAS in amnionic fluid; Normal DHEAS in cord plasma; Possible delayed or abnormal labor patterns; Decreased sulfatase activity in the placenta, fibroblast, erythrocytes, lymphocytes or leukocytes of affected individuals; Development of ichthyosis in male infants at 2 to 3 months of age.

A recoding scheme for X-linked and pseudoautosomal loci to be used with computer programs for autosomal LOD-score analysis.

PubMed

Strauch, Konstantin; Baur, Max P; Wienker, Thomas F

2004-01-01

We present a recoding scheme that allows for a parametric multipoint X-chromosomal linkage analysis of dichotomous traits in the context of a computer program for autosomes that can use trait models with imprinting. Furthermore, with this scheme, it is possible to perform a joint multipoint analysis of X-linked and pseudoautosomal loci. It is required that (1) the marker genotypes of all female nonfounders are available and that (2) there are no male nonfounders who have daughters in the pedigree. The second requirement does not apply if the trait locus is pseudoautosomal. The X-linked marker loci are recorded by adding a dummy allele to the males' hemizygous genotypes. For modelling an X-linked trait locus, five different liability classes are defined, in conjunction with a paternal imprinting model for male nonfounders. The formulation aims at the mapping of a diallelic trait locus relative to an arbitrary number of codominant markers with known genetic distances, in cases where a program for a genuine X-chromosomal analysis is not available. 2004 S. Karger AG, Basel.

Indocyanine green angiography of juvenile X-linked retinoschisis.

PubMed

Souied, Eric H; Goritsa, Anna; Querques, Giuseppe; Coscas, Gabriel; Soubrane, Gisele

2005-09-01

In juvenile X-linked retinoschisis (XLRS), fluorescein angiography is usually unremarkable and contributes poorly to the diagnosis. However, indocyanine green (ICG) angiography features in eyes that are affected with XLRS were not yet described. Retrospective observational case series. A complete ophthalmologic examination that included ICG angiography was performed on three unrelated male patients (six eyes) who were 15, 22, and 48 years old. A distinct hyperfluorescent stellate pattern in the macular area that was associated with radial lines of hypofluorescence that were centered on the foveola was observed on the early phase of ICG examination (six of six eyes). This feature disappeared on the late phase of ICG examination. On these six XLRS eyes, early phases of ICG examination revealed an unusual radial aspect on the macula. This finding suggests that ICG angiography may be useful for the diagnosis of XLRS.

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

PubMed

Naito, E; Ito, M; Yokota, I; Saijo, T; Matsuda, J; Osaka, H; Kimura, S; Kuroda, Y

1997-08-01

We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentration (0.4 mmol/L). However, in the presence of a low concentration (1 x 10(-4) mmol/L) of TPP, the activity was significantly decreased, indicating that PDHC deficiency in this patient was due to decreased affinity of PDHC for TPP. The patient's older brother also was diagnosed as PDHC deficiency with Leigh syndrome, suggesting that PDHC deficiency in these two brothers was not a de novo mutation. Sequencing of the X-linked PDHC E1 alpha subunit revealed a C-->G point mutation at nucleotide 787, resulting in a substitution of glycine for arginine 263. Restriction enzyme analysis of the E1 alpha gene revealed that the mother was a heterozygote, indicating that thiamin-responsive PDHC deficiency associated with Leigh syndrome due to this mutation is transmitted by X-linked inheritance.

Combination of a Haploidentical Stem Cell Transplant With Umbilical Cord Blood for Cerebral X-Linked Adrenoleukodystrophy.

PubMed

Jiang, Hua; Jiang, Min-Yan; Liu, Sha; Cai, Yan-Na; Liang, Cui-Li; Liu, Li

2015-08-01

Childhood cerebral X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disorder that affects central nervous system myelin and the adrenal cortex. Hematopoietic stem cell transplantation is the best available curative therapy if performed during the early stages of disease. Only 30% of patients who might benefit from a hematopoietic stem cell transplant will have a full human leukocyte antigen-matched donor, which is considered to be the best choice. We present a 5-year-old boy with cerebral X-linked adrenoleukodystrophy whose brain magnetic resonance imaging severity score was 7 and who needed an immediate transplantation without an available full human leukocyte antigen-matched donor. We combined haploidentical and umbilical cord blood sources for transplantation and saw encouraging results. After transplantation, the patient showed neurological stability for 6 months and the level of very long chain fatty acids had decreased. By 1 year, the patient appeared to gradually develop cognition, motor, and visual disturbances resulting from possible mix chimerism. Transplantation of haploidentical stem cells combined with the infusion of umbilical cord blood is a novel approach for treating cerebral X-linked adrenoleukodystrophy. It is critical to monitor posttransplant chimerism and carry out antirejection therapy timely for a beneficial clinical outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

Inherent X-Linked Genetic Variability and Cellular Mosaicism Unique to Females Contribute to Sex-Related Differences in the Innate Immune Response.

PubMed

Spolarics, Zoltan; Peña, Geber; Qin, Yong; Donnelly, Robert J; Livingston, David H

2017-01-01

Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis. We describe the differences in X chromosome (ChrX) regulation between males and females and its consequences in the context of common X-linked polymorphisms at the individual as well as population level. We also discuss the potential pathophysiological and immune-modulatory aspects of ChrX cellular mosaicism, which is unique to females and how this may contribute to sex-biased immune-modulation. The potential confounding effects of ChrX skewing of cell progenitors at the bone marrow is also presented together with aspects of acute trauma-induced de novo ChrX skewing at the periphery. In support of the hypothesis, novel observations indicating ChrX skewing in a female trauma cohort as well as case studies depicting the temporal relationship between trauma-induced cellular skewing and the clinical course are also described. Finally, we list and discuss a selected set of polymorphic X-linked genes, which are frequent in the population and have key regulatory or metabolic functions in the innate immune response and, therefore, are primary candidates for mediating sex-biased immune responses. We conclude that sex-related differences in a variety of disease processes including the innate inflammatory response to injury and infection may be

Endoscopic third ventriculostomy (ETV) for idiopathic normal pressure hydrocephalus (iNPH).

PubMed

Tudor, Katarina Ivana; Tudor, Mario; McCleery, Jenny; Car, Josip

2015-07-29

Idiopathic normal pressure hydrocephalus (iNPH) is a type of communicating hydrocephalus also known as non-obstructive hydrocephalus. This type of hydrocephalus is caused by impaired cerebrospinal fluid reabsorption without any obstruction in the ventricular system and is associated with normal cerebrospinal fluid pressure. It is characterised clinically by gait disturbance, cognitive dysfunction, and urinary incontinence (known as the Hakim-Adams triad). The exact cause of iNPH is unknown. It may be managed conservatively or treated surgically by inserting a ventriculoperitoneal (VP) or ventriculoatrial (VA) shunt. However, a substantial number of patients do not respond well to surgical treatment, complication rates are high and there is often a need for further surgery. Endoscopic third ventriculostomy (ETV) is an alternative surgical intervention. It has been suggested that ETV may lead to better outcomes, including fewer complications. To determine the effectiveness of ETV for treatment of patients with iNPH compared to conservative therapy, or shunting of CSF using VP or VA shunts.To assess the perioperative and postoperative complication rates in patients with iNPH after ETV compared to conservative therapy, VP or VA shunting. We searched for eligible studies using ALOIS: a comprehensive register of dementia studies, The Cochrane Central Register of Controlled Trials (CENTRAL) and several bibliographic databases such as MEDLINE (Ovid SP), EMBASE (Ovid SP), PsycINFO (Ovid SP), CINAHL (EBSCOhost) and LILACS (BIREME).We also searched the Database of Abstracts of Reviews of Effects (DARE) to identify potentially relevant reviews. The search strategy was adapted for other databases, using the most appropriate controlled vocabulary for each. We did not apply any language or time restrictions. The searches were performed in August 2014. We included randomised controlled trials (RCTs) of ETV treatment of iNPH. Patients had to have at least two symptoms of the Hakim