Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome.
A Japanese male infant with lissencephaly, congenital muscular dystrophy (CMD), and ocular abnormalities is described. This patient represents features of the cerebro-oculo-muscular syndrome. Cranial computerized tomography revealed diffuse agyria, low density of the white matter, and hypoplasia of the cerebellar vermis. Brain histology suggested type II lissencephaly. These findings are correlated with other similar conditions, such as Walker-Warburg syndrome, Fukuyama-type CMD, and muscle, eye and brain disease.
Sasaki
M
M
Department of Radiology, Iwate Medical College School of Medicine, Morioka, Japan.
Yoshioka
K
K
Yanagisawa
T
T
Nemoto
A
A
Takasago
Y
Y
Nagano
T
T
D000015:Abnormalities, Multiple / Q000150:complications*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital*; D013577:Syndrome; D014057:Tomography, X-Ray Computed