We report an unusual case of variegate porphyria in a young girl with epilepsy, mental retardation and premature adrenarche. Symptoms of porphyria commenced about the age of 12 years and death occurred about 18 months later. The patient had very low protoporphyrinogen oxidase activity in her cultured fibroblasts. Both parents had half the normal activity of this enzyme in lymphocytes and are heterozygous for the abnormal gene for variegate porphyria. Therefore, it is possible that the patient was a homozygous variant. Anticonvulsant therapy and low hepatic 5 alpha reductase activity were probably other contributing factors to the severity of the condition in this patient.
EDITORIAL SYNOPSIS
The clinical histories and features are presented of 2 girls considered to be examples of the recently described syndrome of ‘cerebral gigantism’ in childhood. Both girls showed excessive growth, some features of acromegaly, mental retardation, epilepsy, and visual defects, none of which appeared to be progressive.
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