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Related Experiment Videos

Alexander's disease: unique presentation.

M K Gingold1, J B Bodensteiner, S S Schochet

  • 1Department of Pediatrics, West Virginia University Health Sciences Center, Morgantown 26506-9180, USA. mgingold@wvu.edu

Journal of Child Neurology
|May 26, 1999
PubMed
Summary
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This study presents a rare case mimicking Leigh syndrome, a neurological disorder. Neuropathological examination confirmed Alexander

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Genetics

Background:

  • Subacute necrotizing encephalomyelopathy (Leigh syndrome) is a complex neurological disorder characterized by lactic acidosis and diverse clinical and pathological findings.
  • While metabolic abnormalities are often associated with Leigh syndrome, many cases lack an identified metabolic defect.

Observation:

  • A patient presented with clinical, metabolic, and neuroradiological features suggestive of Leigh syndrome.
  • Unusual ocular motility abnormalities were noted in the patient.
  • Neuropathological examination revealed the definitive diagnosis to be Alexander's disease.

Findings:

  • The patient's presentation mimicked Leigh syndrome, including metabolic derangements and neurological symptoms.
  • Alexander's disease was confirmed neuropathologically, a diagnosis not typically associated with the observed metabolic profile.

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  • This case represents a unique presentation of Alexander's disease with Leigh syndrome-like metabolic and clinical features.

    • Implications:

    • This case highlights the importance of neuropathological confirmation for definitive diagnosis in complex neurological disorders.
    • The findings expand the known clinical and metabolic spectrum of Alexander's disease.
    • Further research may elucidate shared pathways or diagnostic challenges between Leigh syndrome and Alexander's disease.