Congenital muscular dystrophy as a disease of the central nervous system

Profound abnormalities of the brain were noted in a 6-year-old Japanese boy with congenital muscular dystrophy (CMD). Pathological alterations included diffuse cerebral and cerebellar micropolygyria, with bilateral temporal agyria, and abnormal fusion of gray matter in the basal portions of both frontal hemispheres. Microscopically, the architecture of both cerebral and cerebellar cortices was severely distorted, with irregular arrangement of neurons and increased vascularization. Skeletal muscles showed dystrophic changes rather than neurogenic atrophy. Eight autopsy cases of CMD with similar pathologic findings have been reported in Japan, although the lesions in the brain are quantitatively different from case to case. The findings indicate that CMD is a dysplastic disease of the central nervous system, with dystrophic involvement of skeletal muscles.