Friedreich's ataxia forme fruste and elevated creatine phosphokinase in a child with pseudohypoparathyroidism.

A 14-year-old boy with focal seizures, syncopal attacks, and progressive intellectual deterioration had intracranial calcifications on a CT scan and hypocalcemia unresponsive to parathyroid hormone. The commonly recognized neurological manifestations of pseudohypoparathyroidism were complicated by signs of Friedreich's ataxia. A marked elevation of serum CPK was unexplained and was unrelated to seizures.