Congenital encephalomyopathy with epilepsy, chorioretinitis, basal gangliainvolvement, and muscle minicores

A woman had severe psychomotor retardation, epilepsy, rigidity, and chorior etinitis. Magnetic resonance imaging showed cerebellar and cerebral atrophy and hypointensities in T2-weighted images of the thalami and basal ganglia . Muscle biopsy documented size variations in rounded muscle fibers, fibros is, and minicores on electron microscopy. Merosin staining was normal. Thes e hitherto unreported features do not permit classification of our patient within the current types of encephalomyopathy and congenital muscular dystr ophies.