Congenital muscular dystrophy with cerebral white matter spongiosis.
Two siblings affected with a slowly progressive congenital myopathy presented mental retardation, epilepsy and craniofacial dysmorphy. The cerebral necropsic study of one of these patients showed severe anomalies of the white matter, with spongiosis, astrogliosis and vascular hyperplasia, whereas a diffuse and marked hypodensity of white matter was observed at cerebral CT scan in the other patient. There were any lesion of cerebellar grey matter, heterotopy, micropolygyria or neuronal destruction. This syndrome seems to be an original variant of congenital neuromyopathy.
D000293:Adolescent; D001253:Astrocytes / Q000648:ultrastructure; D001921:Brain / Q000473:pathology; D001929:Brain Edema / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009186:Myelin Sheath / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D014057:Tomography, X-Ray Computed