Fabry's disease presenting with stroke

Clin Neurol Neurosurg. 1992;94(2):177-9. doi: 10.1016/0303-8467(92)90079-i.


An atypical patient with Fabry's disease is presented. This patient developed a left internal capsule lacunar stroke at the age of 25. The etiology of the stroke was unclear. At the age of 29 he was discovered to have corneal lesions suggestive of Fabry's disease but had no other clinical features typical of Fabry's disease. The diagnosis of Fabry's disease was confirmed biochemically. Fabry's disease should be included in the differential diagnosis of stroke of unclear etiology in young male patients.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebrovascular Disorders / etiology*
  • Cerebrovascular Disorders / genetics
  • Fabry Disease / complications*
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics
  • Genetic Carrier Screening
  • Humans
  • Male
  • Neurologic Examination
  • alpha-Galactosidase / genetics


  • alpha-Galactosidase