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Fabry's disease presenting with stroke.

R P Grewal1, N W Barton

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.

Clinical Neurology and Neurosurgery
|January 1, 1992
PubMed
Summary
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Fabry's disease, a rare genetic disorder, can cause strokes in young men. This case highlights the importance of considering Fabry's disease in young males experiencing unexplained strokes.

Area of Science:

  • Neurology
  • Genetics
  • Internal Medicine

Background:

  • Fabry's disease is a rare X-linked genetic disorder.
  • It results from alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation.
  • Typical symptoms include angiokeratomas, acroparesthesias, and renal/cardiac complications.

Observation:

  • A 25-year-old male presented with a left internal capsule lacunar stroke of unclear etiology.
  • At age 29, corneal lesions suggestive of Fabry's disease were noted.
  • The patient lacked other common clinical manifestations of Fabry's disease.

Findings:

  • Biochemical confirmation established the diagnosis of Fabry's disease.
  • This case represents an atypical presentation of Fabry's disease.

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  • The stroke occurred before the typical clinical features manifested.

    • Implications:

    • Fabry's disease should be considered in the differential diagnosis of cryptogenic stroke in young males.
    • Early diagnosis can facilitate timely management and potentially prevent further complications.
    • This case underscores the phenotypic variability of Fabry's disease.