抄録
An autopsy case of 9 month old male who had congenital muscular dystrophy and congenital hydrocephalus was reported. At delivery amniotic fluid was turbid. He did not breathe promptly. Birth weight was 3280 g and head circumference, 32 cm. Physical exammination reveal ed large head which was measured 50.9 cm in circumference at 3 month old, cataracta of both eyes, cryptorchidism and contrucre of knee and ancle joints with atrophic extremities. Serum creatinin e phosphokinase was elevated. EMG showed myogenic pattern. On autopsy, cerebral hemispheres were sac form ap p earnce and convolusions were flat. Parenchyma was markedly atrophic. Corpus callosum was preserved only at the anterior portion. Ague3 duct showed occulsion at the middle of its course. Cerebellar folia were poorly developed. Pons, medulla and spinal cord were not remarkable. Microscopically, neurons of cerebral hemispher es, basal ganglia, pons, medulla and spinal cord were normal. Aqueduct showed detachme nt of ependyma and forking. Cytoarchitecture of cerebellar cortex was disorganized. Muscles of extremities showed anemic and atrophic appear ance. Microscopically, interstitial fibrosis and fatty change were remarkable. Marked variation in fiber size, with some swal len fibers in markedly atrophic fibers, were observed. No anomaly was observed in other internal organ s.
