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ADRENOLEUKODYSTROPHY: REPORT OF A FAMILIAL CASE
Author(s) -
FETTES I.,
KILLINGER D.,
VOLPÉ R.
Publication year - 1979
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1979.tb03060.x
Subject(s) - adrenal insufficiency , adrenoleukodystrophy , pyramidal tracts , cerebrum , medicine , endocrinology , primary adrenal insufficiency , adrenocortical insufficiency , pathology , anatomy , central nervous system , peroxisome , receptor
SUMMARY 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 hypogonadotrophic 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.