title: Walker-Warburg syndrome variant.
abstract: A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome analysis and blood biochemistry were normal. Unilateral microphthalmia, retinal dysplasia and internal strabismus were the ocular findings. Magnetic resonance imaging clearly demonstrated the thickened, irregular, nearly agyric cobblestone cerebral cortex with underlying unmyelinated white matter, hydrocephalus, hypoplastic corpus callosum, brain stem and cerebellum with retrocerebellar cyst and posterior cephalocele.
authors.affiliation: Department of Radiology, Gülhane Military Medical Academy, 06010, Ankara, Turkey.
authors.forename: Yüksel
authors.initials: Y
authors.lastname: Pabuşçu
authors.forename: Nail
authors.initials: N
authors.lastname: Bulakbasi
authors.forename: Murat
authors.initials: M
authors.lastname: Kocaoğlu
authors.forename: Taner
authors.initials: T
authors.lastname: Uçöz
authors.forename: Nail
authors.initials: N
authors.lastname: Bulakbaşý
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation; D011859:Radiography; D012160:Retina / Q000002:abnormalities; D013577:Syndrome