Adrenoleukodystrophy: report of a familial case

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. This report describes a 36-year-old-male, who first presented 12 years previously with hypogonadothrophic hypogonadism. It is only more recently that he has developed primary adrenal insufficiency, as well as 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.