PMID: 7371440Jan 1, 1980Paper

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

Child's Brain
J G Millichap

Abstract

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.

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