Congenital myopathy and communicating hydrocephalus--a possible pathogenetic combination

A 5 1/2-year-old boy with congenital myopathy associated with communicating hydrocephalus is described. Motor milestones were delayed with generalized nonprogressive muscular weakness and moderately elevated serum CK. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity which were characterized ultrastructurally by myofibrillar disorganization and Z-band streaming with decrease or absence of mitochondria in this area. The head circumference measured more than 98 percentile at 14 months. The CT scan disclosed moderately dilated ventricles and enlarged cortical sulci. Radioisotope cisternograms showed early ventricular reflux and persistence of radioactivity especially in the parasaggital region even after 72 hours. Some common pathogenetic mechanism may have been involved in the development of both the myopathy and the hydrocephalus.