Correlation between tap test and CSF aqueductal stroke volume in idiopathic normal pressure hydrocephalus.

INTRODUCTION: The diagnosis and management of idiopathic normal pressure hydrocephalus (INPH) remains unclear despite the development of guidelines. In addition, the role of cerebrospinal fluid (CSF) aqueductal stroke volume (ASV) remains unspecified. Objectives: The aim of this study was to compare the results of the tap test (TT) and ASV in patients with possible INPH. MATERIALS AND METHODS: Among 21 patients investigated with both TT and phase-contrast (PC) MRI, we identified two groups, with either (1) a positive TT (PTT) or (2) a negative one (NTT), and we compared their ASV as measured by PC-MRI. ASV cutoff value was set at 70 μL/cardiac cycle (mean value +2 standard deviations in age-matched healthy subjects). RESULTS: In the PTT group (n = 9), the mean ASV was 175 ± 71 μL. Among these patients, four were shunted, and improved after surgery. In the NTT group, two patients were finally diagnosed with aqueductal stenosis and excluded. Among the remaining patients (n = 10), the mean ASV was 96 ± 93 μL (p < 0.05). However, three of these patients presented with hyperdynamic ASV, and an associated neurodegenerative disorder was diagnosed. Two patients had ventriculoperitoneal shunting despite their NTT, and improved. DISCUSSION/CONCLUSIONS: In our patient population, the noninvasive measurement of hyperdynamic ASV correlated with PTT, suggesting PC-MRI could be utilized to select those patients who would benefit from shunting. ASV may therefore be an interesting supplemental diagnosis tool

Phase-contrast MR imaging support for the diagnosis of aqueductal stenosis.

BACKGROUND AND PURPOSE: Patients with aqueductal stenosis (AS) present with various clinical and radiologic features. Conventional MR imaging provides useful information in AS but depends on a subjective evaluation by the neuroradiologist. The purpose of this study was to evaluate the support of the phase-contrast MR imaging (PC-MR imaging) technique (sensitive to CSF flows) for the diagnosis of AS. MATERIALS AND METHODS: We retrospectively considered 17 patients who underwent PC-MR imaging to explore hydrocephalus, with the absence of CSF flow at the aqueductal level. We analyzed their clinical and morphologic MR imaging data. RESULTS: None of the usually reported direct or indirect signs of aqueductal obstruction were seen in 7 patients in whom the clinical suggestion of AS was confirmed by PC-MR imaging results. Seven patients in this population had a third ventriculostomy, and 5 of them were among those in whom conventional MR imaging failed to reveal signs of aqueductal obstruction. All of these 7 patients had a positive postsurgical outcomes. The analysis of CSF and vascular dynamic data in this population was compared with an aged-matched population, and these data were found similar except for the fourth ventricular CSF flush flow latency. CONCLUSIONS: PC-MR imaging supports the diagnosis of CSF flow blockage at the aqueductal level in a reliable, reproducible, and rapid way, which aids in the diagnosis of AS in patients with clinical and/or radiologic suggestion of obstructive hydrocephalus. We, therefore, suggest using this technique in the current evaluation of hydrocephalus

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease