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Adrenoleukodystrophy in a mother and son
R H Simpson1, J Rodda, C J Reinecke
1Postgraduate Medical School, University of Exeter, UK.
Insights
This study documents a rare case of adrenoleukodystrophy in a 28-year-old female carrier, presenting with symptoms similar to her son. The findings highlight the clinical manifestation of this X-linked inherited neurological disease in adult females.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder affecting the adrenal glands and white matter of the brain.
- ALD is caused by mutations in the ABCD1 gene, leading to impaired very long-chain fatty acid (VLCFA) metabolism.
- While typically affecting young boys, ALD can manifest in female carriers, though less commonly.
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.