Walker-Warburg syndrome variant.
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.
Pabuşçu
Yüksel
Y
Department of Radiology, Gülhane Military Medical Academy, 06010, Ankara, Turkey.
Bulakbasi
Nail
N
Kocaoğlu
Murat
M
Uçöz
Taner
T
Bulakbaşý
Nail
N
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