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Case Reports in Neurological Medicine
Volume 2016, Article ID 7627289, 5 pages
http://dx.doi.org/10.1155/2016/7627289
Case Report

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome

1Division of Neurosurgery, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA
2Division of Genetics, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA

Received 24 July 2016; Revised 4 December 2016; Accepted 12 December 2016

Academic Editor: Andreas K. Demetriades

Copyright © 2016 Tomoko Tanaka et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. Mutations in a number of genes including POMT1, POMT2, POMGNT1, POMGNT2, FKTN, FKRP, LARGE, and ISPD are known to cause alpha dystroglycan-related muscular dystrophy. Mutations in these genes result in a broad phenotypic spectrum ranging from the severe WWS to a mild congenital muscular dystrophy with no brain involvement. WWS is fatal to most patients early in life with mean survival of 9 months. The most common brain finding is cobblestone lissencephaly with the vast majority of patients (97%) also having ventricular dilation with or without hydrocephalus. Surgical treatment has not been frequently detailed. This report describes our successful treatment of a patient with WWS and hydrocephalus with Endoscopic Third Ventriculostomy (ETV) with choroid plexus cauterization (CPC). Fourteen months following treatment, a follow-up MRI CSF flow study demonstrated robust CSF flow through floor of third ventricle from interpeduncular cistern to lateral ventricle.