Title |
Rare variability in adrenoleukodystrophy: a case report
|
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Published in |
Journal of Medical Case Reports, June 2018
|
DOI | 10.1186/s13256-018-1722-z |
Pubmed ID | |
Authors |
Yanming Chen, Farhana Polara, Anjana Pillai |
Abstract |
X-linked adrenoleukodystrophy is a genetic disorder with diverse clinical phenotypes. Of these phenotypes, the cerebral form usually manifests during early childhood with rapid cognitive and neurological deterioration and is accompanied by extensive white matter involvement. Adrenomyeloneuropathy, however, usually affects young adults and has focal symptoms typical of spinal cord and peripheral nerve involvement. A 35-year-old African American man with a history of alcohol abuse presented with personality changes and lower extremity weakness. Diffuse demyelination was found on the brain image, and a diagnosis of the cerebral form was made based on the clinical features and genetic test. We report a rare case of adult-onset cerebral X-linked leukodystrophy with a clinical phenotype of adrenomyeloneuropathy, and the diagnosis was confounded by a history of alcohol abuse. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
United Kingdom | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 3 | 13% |
Researcher | 3 | 13% |
Student > Bachelor | 3 | 13% |
Student > Ph. D. Student | 2 | 9% |
Student > Master | 2 | 9% |
Other | 1 | 4% |
Unknown | 9 | 39% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 5 | 22% |
Neuroscience | 5 | 22% |
Biochemistry, Genetics and Molecular Biology | 2 | 9% |
Nursing and Health Professions | 2 | 9% |
Unknown | 9 | 39% |