ADRENOLEUKODYSTROPHY: REPORT OF A FAMILIAL CASE

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Abstract
Adrenoleukodystrophy is an unusual disorder in which progressive diffuse demyelination of the cerebrum is associated with adrenal insufficiency, and which is transmitted as a sex-linked recessive trait. A 36 yr old male, who first presented 12 yr previously with hypogonadotrophic hypogonadism was described. More recently he developed primary adrenal insufficiency, and a neurological disorder characterized by cerebellar, pyramidal tract and cerebral cortical abnormalities. One brother died at age 7 with Schilder''s disease, while another brother suffered adrenal insufficiency, progressive mental and neurological deterioration and death at age 38, with post-mortem evidence of adrenoleukodystrophy. Histological studies have revealed cytoplasmic striated inclusions, which proved to be lipid in nature, but the precise defect in lipid metabolism has yet to be clarified.