Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type)

A 3-year-old Japanese boy with congenital muscular dystrophy (CMD) and normal intelligence is presented. He had not learned to crawl, shuffled on his bottom, and could not walk. At 7 months, his CT-scan had showed periventricular low density and mild ventricular dilatation, and spike or sharp wave discharges were seen on EEG. At three years of age, his CT-scan revealed wide-spread hypodensity in the cerebral white matter, EEG showed multifocal discharges, and MRI showed abnormal high density area in the cerebrum on spin echo image. These findings suggest the existence of an intermediate form of CMD between the Fukuyama type of CMD and the classical occidental type of CMD. The combination of repeated CT and MRI scans seems necessary for the evaluation of CNS abnormalities in CMD.