Search results for "Hydrocephalu"

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

2016

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. …

The Quest for Predictors of Shunt-Dependent Chronic Hydrocephalus After Aneurysmal Subarachnoid Hemorrhage: Toward a Tailored Approach for Permanent …

2021

A Case Report of Adult Pineoblastoma Occurring in a Pregnant Woman.

2019

Background/aim Pineoblastoma of the adult age is an uncommon tumor with only 200 cases reported. A standardized approach for an optimal adjuvant strategy is currently lacking. The case presented herein also deals with the issue of central nervous system tumors in pregnancy. Case report A 21-year-old pregnant woman presented with massive hydrocephalus due to a mass in the pineal region detected with MRI. After positioning an urgent ventricular derivation, a cesarean section was performed. During a third ventriculocisternostomy, a biopsy revealed a pineoblastoma. After a maximal safe resection, postoperative craniospinal irradiation for a total dose of 36 Gy plus a sequential boost to the tum…

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

2014

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 d…

MRI studies after treatment of brain tumors in childhood and adolescence

1986

Forty-seven children and adolescents with brain tumors were examined by magnetic resonance imaging (MRI) after tumor resection. The typical changes and complications after surgery and chemotherapy, as well as the corresponding MRI findings, are discussed. Typical examples of boundary-layer lesions, tumor recurrences, hydrocephalus, porencephalic cysts, and hygromas are given.

Occurrence of Cerebral Venous Sinus Thrombosis in Patients with Presumed Idiopathic Intracranial Hypertension

2005

Purpose To report the rate of occurrence of cerebral venous sinus thrombosis (CVST) in patients with presumed idiopathic intracranial hypertension (IIH). Design Retrospective chart review. Participants All patients diagnosed with papilledema from November 1, 2002, through October 31, 2003, at 3 tertiary care neuro-ophthalmology centers. Methods Consecutive patients with a diagnosis of papilledema from 3 tertiary care neuro-ophthalmology centers were identified. Patients with space-occupying lesions, hydrocephalus, or meningitis were excluded. The remaining patients were evaluated with lumbar puncture, magnetic resonance imaging (MRI), and magnetic resonance venography (MRV). Main Outcome Me…

Assessment of brainstem function in Chiari II malformation utilizing brainstem auditory evoked potentials (BAEP), blink reflex and masseter reflex

2000

Brainstem dysfunction was evaluated in 67 patients with myelomeningocele and Chiari II malformation using brainstem auditory evoked potentials (BAEP), blink reflex (BR) and masseter reflex (MR). Signs and symptoms related to Chiari II malformation were observed in 18 patients while 49 patients had normal brainstem findings. BAEP and BR showed a higher sensitivity of brainstem involvement than MR (BAEP=1.0, BR=0.83, MR=0.50). BR, and in particular, MR were of higher accuracy (BR=0.52, MR=0.72) than BAEP (0.39) in separating patients with brainstem signs and symptoms related to Chiari II malformation. We feel that this is due to anatomic and physiologic peculiarities of the brainstem structur…

Endoscopic Neurosurgery and Endoscope-assisted Microneurosurgery for the Treatment of Intracranial Cysts

1998

Objective Different endoscopic techniques have been introduced into neurosurgery, but accepted terminology and definitions are still missing. We propose a terminology based on whether the endoscope is used alone or in conjunction with an operating microscope and on whether the route of surgical manipulations is through or outside the endoscope. Accordingly, procedures are categorized into endoscopic neurosurgery (EN), endoscope-assisted microneurosurgery (EAM), and endoscope-controlled microneurosurgery (ECM). Methods We treated 36 patients with intracranial arachnoid cysts (ACs) and intraventricular cysts endoscopically. The patients ranged in age from 4 months to 69 years (mean age, 31 yr…

Prevention of ventricular catheter obstruction and slit ventricle syndrome by the prophylactic use of the Integra antisiphon device in shunt therapy …

2010

Object This 25-year follow-up study was performed on 120 children with hypertensive hydrocephalus to evaluate the influence of the early prophylactic implantation of the Integra antisiphon device (ASD, Integra Neurosciences Ltd.) on the rate of proximal shunt obstructions and the frequency of symptomatic slit ventricle syndrome (SVS). The adaptability of the ASD to growth, proper positioning of the ASD as a necessity for its successful performance, and the 3 phases of SVS development are discussed. Method Since 1978, the ASD has consistently been implanted either at the time of primary shunt insertion (66 neonates, mean follow-up 11 years) or during revisions of preexisting shunts (54 chil…

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

1992

We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.