Association Of Hydrocephalus Research Articles

Off-label use of therapeutic plasma-exchange in postasymptomatic covid-19 autoimmune encephalopathy

Hypertensive tetraventricular hydrocephalus in association with polyradiculoneuritis and leptomeningitis in patients are very unusual conditions that can be related to viral infections. We report the case of a patient with severe post-covid 19 encephalopathy who underwent Therapeutic Plasma Exchange (TPE) as an “off-label” use.

Establishing ranked priorities for future hydrocephalus research.

The aim of this initiative was to develop a ranked list of hydrocephalus research priorities as determined by the hydrocephalus patient community in conjunction with the healthcare and scientific community. Using the validated methodology published by the James Lind Alliance (JLA), the Hydrocephalus Association (HA) administered two surveys and hosted a final prioritization workshop. Survey One solicited open-ended responses from the community. From these responses, a long list of priority statements was developed. This list was then consolidated into a short list of research priority statements, which, after a nonsystematic literature review, were verified as being research uncertainties. Survey Two asked the community members to select their top 10 priorities from the short list. The final prioritization leading to a final ranked top 20 list of hydrocephalus research priorities took place at a virtual workshop led by a team of trained facilitators, by means of an iterative process of consensus building. From Survey One, 3703 responses from 890 respondents were collected, leading to a long list of 146 priority statements. The consolidated short list contained 49 research priority statements, all of which were verified as uncertainties in hydrocephalus research. From an analysis of Survey Two responses, the top 21 research priority statements were determined. A consensus on these statements was reached at the virtual workshop, leading to a final ranked top 20 list of hydrocephalus research priorities, within which needs were apparent in several areas: development of noninvasive and/or one-time therapies, reduction of the burden of current treatments, improvement of the screening and diagnosis of hydrocephalus, improved quality of life, and improved access to care. By gathering extensive input from the hydrocephalus community and using an iterative process of consensus building, a ranked list of the top 20 hydrocephalus research priorities was developed. The HA will use this ranked list to guide future research programs and encourages the healthcare and scientific community to do the same.

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogenic kidneys were then detected on ultrasonography. Fetal pathological examination showed facial dysmorphism, occipital meningoencephalocele, characteristic renal cysts, mild hepatic ductal dysplasia, hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies. Molecular and cytogenetic analysis identified a paternally inherited CEP290/MKS4 (MIM611134) (12q21) nonsense mutation and a maternal 12q21 microdeletion. Two cases with such a mechanism have previously been described in the literature, one of them involves an inherited microdeletion. The observation of such cases highlights the existence of a pathogenic mechanism which involves deletion and point mutation, and illustrates how homozygosity can hide hemizygosity when usual sequencing methods are used. The identification of hemizygosity enables to determine precisely the molecular mechanism and to understand some phenotypic variations. As they act as complete loss of function allele, deletions might give indication on the severity of the associated point mutation. This clinical report highlights the importance of fetal pathology following termination of pregnancies in order to guide molecular analysis and the potential role of cytogenetic cryptic disorders in autosomal recessive disease. The use of polymorphic marker analysis in association with FISH or arrayCGH provided an accurate identification of molecular mechanisms, accurate genetic counseling and optimized strategy for next pregnancies or preimplantation diagnosis.

Vertebrobasilar artery ectasia presenting as hydrocephalus

Symptomatic hydrocephalus in association with basilar artery ectasia is a rare occurrence. We report an 81-year-old woman with progressive dementia, gait disturbance, and sphincter incontinence. Brain computed tomography (CT) and magnetic resonance imaging (MRI) scans showed obstructive hydrocephalus with compression of the fourth ventricle by a large ectatic basilar artery. After ventriculoperitoneal shunting, the patient showed rapid resolution of symptoms. This case illustrates that ventricular obstruction due to basilar artery ectasia can mimic the classical triad of normal pressure hydrocephalus.

Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene.

Congenital hydrocephalus is an etiologically diverse, poorly understood, but relatively common birth defect. Most human cases are sporadic with familial forms showing considerable phenotypic and etiologic heterogeneity. We have studied the autosomal recessive mouse mutation congenital hydrocephalus ( ch ) to identify candidate human hydrocephalus genes and their modifiers. ch mice have a congenital, lethal hydrocephalus in association with multiple developmental defects, notably skeletal defects, in tissues derived from the cephalic neural crest. We utilized positional cloning methods to map ch in the vicinity of D13Mit294 and confirm that the ch phenotype is caused by homozygosity for a nonsense mutation in a gene encoding a winged helix/forkhead transcription factor ( Mf1 ). Based on linked genetic markers, we performed detailed phenotypic characterization of mutant homozygotes and heterozygotes to demonstrate the pleiotropic effects of the mutant gene. Surprisingly, ch heterozygotes have the glaucoma-related distinct phenotype of multiple anterior segment defects resembling Axenfeld-Rieger anomaly. We also localized a second member of this gene family ( Hfh1 ), a candidate for other developmental defects, approximately 470 kb proximal to Mf1.

Comparison of simultaneous versus delayed ventriculoperitoneal shunt insertion in children undergoing myelomeningocele repair.

The timing of cerebrospinal fluid shunt insertion for those neonates with hydrocephalus in association with myelomeningocele remains controversial. To examine whether there was a difference in either the complication rate or mean hospital stay for neonates undergoing myelomeningocele repair and shunting under the same anesthetic (simultaneous group) versus those in whom shunt insertion was delayed for several days after myelomeningocele closure (sequential group), we reviewed the results obtained with these two approaches in a series of 69 consecutive patients who underwent both myelomeningocele closure and shunt insertion at our institution between 1987 and 1993. Twenty-one infants underwent simultaneous myelomeningocele repair and shunting, and 48 underwent sequential procedures. The decision to shunt concurrently with myelomeningocele repair rather than in a delayed fashion was based primarily on surgeon preference rather than initial head circumference, which did not differ significantly between the two groups. The frequency and type of hydrocephalus-related complications (e.g., wound leak, cerebrospinal fluid infection, or shunt malfunction) that occurred during the first 6 months after myelomeningocele closure were compared between the two groups. Neither the overall frequency of complications nor the frequency of cerebrospinal fluid infection, shunt malfunction, or symptomatic Chiari malformation differed significantly between the two groups. In contrast, there was a significantly higher rate of myelomeningocele wound leak in the sequential group versus the simultaneous group (eight versus zero; P = .05). Mean hospital stay for the sequential group was also significantly longer than the simultaneous group (22 days versus 13 days; P = .05). These results suggest that simultaneous myelomeningocele repair and ventriculoperitoneal shunt insertion reduces hospital stay and back wound morbidity in those patients with evidence of hydrocephalus at birth, without an inordinate increase in shunt-related complications.

Evolution of the management of hydrocephalus associated with acoustic neuroma.

The management of hydrocephalus in association with a cerebellopontine angle tumor is controversial. There is a widely held belief that initial therapy should always be directed toward treatment of hydrocephalus before definitive surgery. The potential problems of cerebrospinal fluid (CSF) shunting and drainage have to led to an evolution in the management of hydrocephalus at St. Vincent's Hospital. There is growing evidence that complete removal of cerebellopontine angle tumors will result in resolution of hydrocephalus without requiring other methods of CSF decompression. The authors present their experience of 14 patients with hydrocephalus found in a recent series of 104 consecutive cases of acoustic neuroma. This study has detected a significant correlation between hydrocephalus and increasing tumor size (P = .0234). The mean tumor size in this series was 3.8 cm. The series has also demonstrated that successful. safe, and complete tumor removal can be achieved without CSF drainage before surgery.

Craniosynostosis and hydrocephalus.

Ten cases of craniosynostosis associated with hydrocephalus were found in a retrospective review of 250 cases of children with craniosynostosis. Four children had Pfeiffer's syndrome, 3 had Crouzon's syndrome, 2 had kleeblattschädel with multiple anomalies and therefore could not be classified into a definite syndrome, and 1 had isolated sagittal synostosis. Of these 10 children, 5 had kleeblattschädel, two with Crouzon's syndrome, one with Pfeiffer's syndrome, and 2 with multiple anomalies. In all patients, hydrocephalus was controlled by a shunting procedure. Possible causes of hydrocephalus in association with craniosynostosis are discussed.

IQ Measurement in Children With Skeletal Dysplasia

We have reviewed the IQ studies on 68 children with skeletal dysplasia. These data should provide useful information for the counseling of parents with newborn affected children. Previous studies have documented retardation and hydrocephalus in association with achondroplasia. Some parents report that they were given a poor prognosis for their child's mental development early in his or her life. This study shows that the 34 children with achondroplasia and 34 with other skeletal dysplasia performed intellectually in the same range as other children.

DEPRESSION AND NORMAL PRESSURE HYDROCEPHALUS A DILEMMA IN NEUROPSYCHIATRIC DIFFERENTIAL DIAGNOSIS

Normal pressure hydrocephalus (NPH) is a surgically correctable syndrome of progressive dementia, gait abnormalities, and urinary incontinence resulting from an occult hydrocephalus in association with normal cerebrospinal fluid pressure. Occurring most frequently in midlife and often idiopathic in origin, the early course of the illness may be characterized by symptoms of apathy, inattentiveness, agitation, and poverty of thought which mimic a depressive illness and may delay the recognition and treatment of the underlying structural defect. A review of the literature reveals that this association of depressive symptomatology and NPH has received little attention in the psychiatric literature, and the authors describe a case of NPH which presented as a severe, agitated depression. Clinical findings which suggest the presence of NPH are discussed, and the need to include NPH in the differential diagnosis of depression in the presenium is emphasized. The authors believe such diagnostic vigilance is necessary if the needless deterioration of potentially salvageable individuals is to be prevented.

Hydrocephalus in Apert's syndrome

Six children with Apert's syndrome were studied by means of pneumoencephalography or postmortem examination. Varying degrees of hydrocephalus were noted in all cases. It is suggested that hydrocephalus in association with this syndrome is more common than previously reported and that shunting procedures should be considered in an effort to decrease the severity of mental retardation noted in the majority of these patients.