title: Adrenoleukodystrophy in a mother and son.
abstract: A 6 year old boy died from a degenerative brain disease which was clinically and pathologically typical of adrenoleukodystrophy. Shortly before his disease became manifest his 28 year old mother had presented with similar symptoms, and subsequently died. Her brain showed almost identical features including the presence of pathognomonic ultrastructural inclusions. The accumulation of very long chain fatty acids in cerebral white matter as well as high hexacosanoic to docosanoic acid (C26:22) ratios, substantiated the diagnosis in both cases. This is one of the few documented cases of adrenoleukodystrophy in an adult female, and is almost certainly an example of clinical manifestation of this X-linked inherited disease in a carrier.
authors.affiliation: Postgraduate Medical School, University of Exeter, UK.
authors.forename: R H
authors.initials: RH
authors.lastname: Simpson
authors.forename: J
authors.initials: J
authors.lastname: Rodda
authors.forename: C J
authors.initials: CJ
authors.lastname: Reinecke
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014960:X Chromosome