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• The triad of gait disturbance, incontinence, and dementia in idiopathic normal pressure hydrocephalus (iNPH) can also be observed in hydrocephalus occlusus (HO). • There is no similar scale in HO research to assess neurological symptoms. • Clinical signs of HO are analyzed with the new iNPH Scale. • The presented iNPH Scale evaluates neurological symptoms and surgical outcome in HO. Comprehensively describe and compare (pre⁄postoperatively) the clinical symptomatology in adult non-communicated hydrocephalus. Associated hydrocephalus signs were analyzed with the idiopathic Normal Pressure Hydrocephalus Scale (iNPH Scale). A standardized clinical scale for non-communicated hydrocephalus is currently not in use. Ten patients with hydrocephalus occlusus (HO) were analyzed. Hydrocephalus signs were examined with the iNPH Scale in gait, neuropsychology, continence, and balance before and three months after treatment with shunt operation or third endoscopic ventriculostomy. Patients significantly improved in iNPH total score (25.8%) and gait score (35.4%) three months after neurosurgical intervention. Domain scores in neuropsychology, continence, and balance reached statistical trends (p ≤ 0.066). Most clinical symptoms and signs at baseline improved after surgery (dizziness, lapse of concentration, gait instability, and headache). Patients with non-communicated HO also showed classical hydrocephalus symptoms as communicated in iNPH patients. The iNPH Scale allows a structured neurological assessment over the disease's progress and surgical intervention. Further studies with a larger patient samples are necessary to support our results. [ABSTRACT FROM AUTHOR]

Aqueduct stenosis is a recognized cause of obstructive hydrocephalus in children and can be treated effectively with endoscopic third ventriculostomy. Preoperative magnetic resonance imaging is often diagnostic of the cause of aqueduct stenosis. We describe 2 pediatric cases with obstructive hydrocephalus secondary to a working diagnosis of idiopathic aqueduct stenosis. Following successful endoscopic third ventriculostomy, repeat magnetic resonance brain imaging revealed tectal plate glioma as the primary cause of obstruction. We believe these 2 reported cases demonstrate a previously unreported phenomenon whereby concealed tectal gliomas presenting with hydrocephalus are only unmasked following relief of hydrocephalus and decompression and normalization of the ventricular system. We aim to raise awareness about this unusual phenomenon and recommend routine postoperative interval imaging following endoscopic third ventriculostomy to avoid missing underlying pathology masquerading as aqueduct stenosis. [ABSTRACT FROM AUTHOR]

The SMARCC1 gene has been involved in congenital ventriculomegaly with aqueduct stenosis but only a few patients have been reported so far, with no antenatal cases, and it is currently not annotated as a morbid gene in OMIM nor in the Human Phenotype Ontology. Most of the reported variants are loss of function (LoF) and are often inherited from unaffected parents. SMARCC1 encodes a subunit of the mSWI/SNF complex and affects the chromatin structure and expression of several genes. Here, we report the two first antenatal cases of SMARCC1 LoF variants detected by Whole Genome Sequencing (WGS). Ventriculomegaly is the common feature in those fetuses. Both identified variants are inherited from a healthy parent, which supports the reported incomplete penetrance of this gene. This makes the identification of this condition in WGS as well as the genetic counseling challenging. [ABSTRACT FROM AUTHOR]

Abstract: Delayed pneumocephalus is a rare but well-reported complication of cerebrospinal fluid diversion procedures. In most cases the air enters the intracranial cavity via a skull base defect. We report a case of hydrocephalus secondary to aqueduct stenosis. The patient developed pneumocephalus 2 months after successful placement of a ventriculoperitoneal shunt. We describe an attempt at endoscopic diagnosis and repair of the fistula. This was unsuccessful, presumably because the defect was too small to localize even with the use of intrathecal fluorescein. We subsequently performed a conventional craniotomy and anterior fossa repair with placement of an antisiphon device. We suggest that in certain cases, when patients present with long-standing hydrocephalus, it may be advisable to insert either a high-pressure valve or antisiphon device as a primary measure. [Copyright &y& Elsevier]