{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:03:03Z","timestamp":1740164583548,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1155\/2016\/7627289","type":"journal-article","created":{"date-parts":[[2016,12,27]],"date-time":"2016-12-27T16:15:40Z","timestamp":1482855340000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome"],"prefix":"10.1155","volume":"2016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0897-8217","authenticated-orcid":true,"given":"Tomoko","family":"Tanaka","sequence":"first","affiliation":[{"name":"Division of Neurosurgery, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catharine J.","family":"Harris","sequence":"additional","affiliation":[{"name":"Division of Genetics, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah S.","family":"Barnett","sequence":"additional","affiliation":[{"name":"Division of Genetics, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6373-7462","authenticated-orcid":true,"given":"N. 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