Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier
Abstract
We described a 38-year-old woman of rapidly progressive dementia with white matter encephalopathy and death. She had Addison's disease but the adrenal glands were hyperplastic. Brain magnetic resonance imaging revealed diffuse white matter lesion predominantly in the frontal lobe with band-like contrast enhancement. l-Methyl-11C-methionine positron emission tomography revealed accumulation of tracer in bilateral frontal lobes. Stereotactic biopsy demonstrated demyelination changes. A number of urinary organic acids were elevated. Adrenoleukodystrophy was diagnosed by elevated plasma very long chain fatty acid and ABCD1 gene mutation (C1544C/T). Adrenoleukodystrophy should be considered as a differential diagnosis in women with rapidly progressive white matter encephalopathy.
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The fatal cerebral phenotype of X-ALD is extremely rare in females and probably only occurs when both alleles are affected.
“Indeed, the fatal cerebral phenotype of the disease is extremely rare in females and probably only occurs when both alleles are affected.4,87,88”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [88]
Cites
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
X-linked adrenoleukodystrophy in women: A cross-sectional cohort study
Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain · doi:10.1093/brain/awt361 · Cited by 234 · see citing works
Hein, S., Schonfeld, P., Kahlert, S., & Reiser, G. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn066 · Cited by 180 · see citing works
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Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
- Authors
- Chen, X., Chen, Z., Huang, D., Liu, X., Gui, Q., & Yu, S.
- Affiliations
- Chinese PLA General Hospital (CN)
- Corresponding author
- Yu, Shengyuan
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2014-07
- Volume
- 544
- Issue
- 2
- Pages
- 248-251
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W1993304511
- Cited by
- 11
- References
- 3
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2023: 2 · 2021: 1 · 2020: 1 · 2016: 1 · 2015: 1
- FWCI
- 0.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- Addison's disease, female carriers, very long chain fatty acids, urinary organic acids, adrenal hyperplasia, rapidly progressive dementia, differential diagnosis
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Hypoadrenocorticism, Familial, Long-Chain-Fatty-Acid-CoA Ligase, Addison Disease, Adrenal Insufficiency, Adrenal Glands, Adrenoleukodystrophy, Adult, Brain, China, Coenzyme A Ligases, Dementia, Fatty Acids, Female, Humans, Fatal Outcome, ATP-Binding Cassette Transporters, Mutation, Missense, Positron-Emission Tomography
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