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.
D000309:Adrenal Insufficiency / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000328:Adult; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008297:Male