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Related Experiment Videos

Fabry disease mimicking multiple sclerosis.

Sabahattin Saip1, Derya Uluduz, Gokhan Erkol

  • 1Department of Neurology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.

Clinical Neurology and Neurosurgery
|January 20, 2007
PubMed
Summary
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Fabry disease, a genetic disorder, can cause stroke-like episodes in young women. Early diagnosis is crucial, even when symptoms mimic other conditions like multiple sclerosis.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase deficiency.
  • It leads to endothelial vasculopathy affecting multiple organs, with neurological damage being a significant cause of morbidity.
  • Cerebrovascular events occur frequently in female carriers, despite often being asymptomatic.

Observation:

  • A 33-year-old female presented with recurrent neurological deficits misdiagnosed as multiple sclerosis.
  • Cerebral MRI showed hyperintense lesions in the thalamus, supratentorial areas, and cerebellum.
  • Skin lesions and proteinuria were detected during follow-up, prompting further investigation.

Findings:

  • Neurological, dermatological, and laboratory findings were suggestive of Fabry disease.

Related Experiment Videos

  • Enzyme assays confirmed the diagnosis.
  • The patient experienced recurrent neurological deficits due to multifocal small vessel involvement.

    • Implications:

    • Fabry disease should be considered in young patients with unexplained stroke-like episodes.
    • Key indicators include vertebrobasilar system infarction, angiokeratomas, and proteinuria.
    • Timely diagnosis and management are essential for improving patient outcomes.