A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions

Clinical and morphological findings in five patients, three girls and two boys, afflicted with congenital muscular dystrophy (CMD) and cerebral lesions are reported. Four of these patients represented two pairs of siblings, and all patients had died in early infancy. Three of the patients had muscle hypotonia in early infancy, two siblings died with a necrotizing myopathy before neuromuscular symptoms became clinically apparent. Two siblings had intractable grand mal seizures, one other boy had polymicrogyria, and a single child had internal hydrocephalus. Muscle morphology in all patients was compatible with CMD, showing a necrotizing component in two male sibs. Electron microscopy of muscle only revealed non-specific ultrapathology. The association of CMD with cerebral lesions renders prognosis unfavourable. The data presented do not permit the delineation of a precise nosological form of cerebro-muscular disease but may comprise several entities. The association of CMD and cerebral lesions may often occur in families, apparently following an autosomal-recessive mode of inheritance. It may not be identical to the Fukuyama type of CMD, and it is definitely different from the "muscle, eye and brain disease" in Finnish children. It seems to be similar to CMD with cerebral lesions observed in non-Japanese siblings, but whether it is actually the same disease remains unclear. At least the association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.