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Rare variability in adrenoleukodystrophy: a case report.

Yanming Chen1, Farhana Polara2, Anjana Pillai2

  • 1Department of Medicine, Lincoln Medical Center, 234 East 149th Street, Bronx, New York, 10451, USA. cheny22@nychhc.org.

Journal of Medical Case Reports
|June 29, 2018
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Summary
This summary is machine-generated.

This study presents a rare case of adult-onset cerebral X-linked adrenoleukodystrophy (X-ALD) mimicking adrenomyeloneuropathy. The diagnosis was complicated by alcohol abuse, highlighting diagnostic challenges in X-ALD.

Keywords:
ABCD1AdrenoleukodystrophyAdrenomyeloneuropathyPhenotypes

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Area of Science:

  • Neurogenetics
  • Neurology
  • Genetic Disorders

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder with varied clinical presentations.
  • Cerebral X-ALD typically affects children, causing rapid neurological decline and white matter damage.
  • Adrenomyeloneuropathy (AMN) usually presents in young adults with spinal cord and peripheral nerve symptoms.

Observation:

  • A 35-year-old man with alcohol abuse history presented with personality changes and leg weakness.
  • Brain imaging revealed diffuse demyelination.
  • Clinical presentation mimicked AMN, but genetic testing confirmed cerebral X-ALD.

Findings:

  • This case highlights a rare adult-onset cerebral X-ALD.
  • The patient's phenotype resembled AMN, complicating the initial diagnosis.
  • A history of alcohol abuse potentially confounded the clinical picture.

Implications:

  • This case underscores the importance of considering X-ALD in adults with unexplained neurological symptoms.
  • Diagnostic challenges in X-ALD can arise from atypical presentations and confounding factors like substance abuse.
  • Accurate and timely diagnosis of X-ALD is crucial for appropriate management and genetic counseling.