[Congenital muscular dystrophy with leukoencephalopathy]

The paper reports a case of the western-type congenital muscular dystrophy in a 5-year-old boy who showed generalized myasthenia and hypotrophies, flexor contractures in the large joints of legs and arms, areflexia of deep reflexes. Examining the biopsy specimens of the musculus quadriceps femoris revealed changes typical of muscular dystrophy. The level of serum creatine kinase was elevated. Electromyography showed changes characteristic of muscular lesion. An emphasis is laid on his asthenic constitution, hydrocephalic skull, lowly located ears, and a small mouth. Despite preserved intellect and no focal neurological symptomatology, brain computed tomography indicated a diffuse decrease in the density of the substantia alba in the cerebral hemispheres. The paper also provides references to papers which emphasize that neurological symptoms will inevitably develop in such patients in future.