Cerebro-ocular dysplasia and muscular dystrophy: report of two cases.
The authors report two cases with severe cerebro-ocular malformations and muscular dystrophy who died at 14 and 8 months of age. In both, muscular dystrophy was confirmed by EMG and high muscle enzyme values. In one case, autopsy showed severe cerebral malformation consisting of lissencephaly, hydrocephalus, agenesis of corpus callosum, chiasma and olfactory bulb and lobe, absence of pyramides and cerebellar vermis. In sections of cerebral cortex a clear absence of structural cellular organization and spongiosis of the white matter were evident. Similar disorganization was found in the cerebellum where numerous calcifications were present. The muscle showed signs of primitive muscular dystrophy. The clinical autonomy of the cerebro-ocular-dysplasia-muscular-dystrophy syndrome is discussed. The clinical and pathological data are compared with the two other similar syndromes (i.e. Fukuyama's and Warburg's diseases).
Federico
A
A
Istituto di Scienze Neurologiche, Centro per lo Studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
Dotti
M T
MT
Malandrini
A
A
Guazzi
G C
GC
Hayek
G
G
Simonati
A
A
Rizzuto
N
N
Toti
P
P
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D004576:Electromyography; D005128:Eye Diseases / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D014057:Tomography, X-Ray Computed