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In 5 patients with Walker\u2010Warburg syndrome (WWS), MRI showed hydrocephalus due to aqueduct stenosis, generalized cerebral cortical agyric or pachygyric polymicrogyria, diffuse cerebral hemispheric white matter abnormalities, and malformations of posterior fossa structures. In 4 patients with muscle\u2013eye\u2013brain disease, MRI showed cortical dysplasia, but less severe than in WWS. The cerebral white matter either was normal or contained multiple focal abnormalities. Malformations of posterior fossa structures were present. Eight patients, classified as having classic merosin\u2010deficient CMD (MD\u2010CMD), had diffuse cerebral hemispheric white matter abnormalities, no other abnormalities. One patient with MD\u2010CMD had only a few, focal white matter abnormalities. Three CMD patients had occipital agyria, otherwise normal gyration, multifocal or more diffuse cerebral white matter changes, and variable hypoplasia of pons and vermis. Two of the 3 patients had negative muscle merosin staining. The conclusion of the study is that MRI is an important adjunct in the classification of CMD patients. CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.<\/jats:p>","DOI":"10.1002\/ana.410420110","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:02:27Z","timestamp":1104591747000},"page":"50-59","source":"Crossref","is-referenced-by-count":121,"title":["Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities"],"prefix":"10.1002","volume":"42","author":[{"given":"M. S.","family":"van der Knaap","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. M. E.","family":"Smit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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