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  • Title: [Adrenoleukodystrophy in children. Apropos of 20 cases].
    Author: Aubourg P, Chaussain JL, Dulac O, Arthuis M.
    Journal: Arch Fr Pediatr; 1982 Nov; 39(9):663-9. PubMed ID: 6299222.
    Abstract:
    Adrenoleukodystrophy (ALD) is a sex-linked recessive metabolic encephalopathy usually beginning in childhood. This series of 20 cases showed the following associated symptoms: mental deterioration (20 cases), behavior modification (19 cases), decreased visual acuity (17 cases), deafness (13 cases) and seizures (7 cases). Adrenal insufficiency often consisted only of melanoderma (13 cases). Diagnosis was assessed by characteristic CT-scan findings (8 of 13 cases), adrenocortical insufficiency partial glucocorticoid (19 of 19 investigated cases) or global, mineralo- and involving both aldosterone and glucocorticoid hormones (9 of 17 investigated cases) and by the presence of specific inclusions on the skin and/or conjunctival biopsy (5 of 7 cases).
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