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Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study

L H Castro1, M L Monteiro, E R Barbosa

  • 1Department of Neurology, University of São Paulo Medical School, Brazil.

Sao Paulo Medical Journal = Revista Paulista De Medicina
|October 1, 1994
PubMed

Insights

A young woman with a Fabry gene mutation experienced bilateral thalamic infarcts. Fabry disease is a rare cause of ischemic stroke in young adults.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Fabry disease (angiokeratoma corporis diffusum) is a rare genetic disorder.
  • It is caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency.
  • This deficiency results in the accumulation of globotriaosylceramide in various tissues.

Observation:

  • A young female heterozygote for the Fabry gene presented with bilateral thalamic infarcts.
  • Cerebral angiography revealed occlusions in central nervous system vessels.
  • Family members were also evaluated to assess genetic and phenotypic correlations.

Findings:

  • The patient's thalamic infarcts were attributed to CNS vessel occlusions, linked to her Fabry gene heterozygosity.
  • This case highlights the potential for cerebrovascular complications in individuals with Fabry disease, even in heterozygotes.
  • Genetic analysis confirmed the Fabry gene mutation in the affected individual and other family members.

Implications:

  • This case underscores Fabry disease as a significant, albeit rare, cause of ischemic stroke in young adults.
  • Early diagnosis and genetic counseling are crucial for managing Fabry disease and preventing cerebrovascular events.
  • Further research into the specific mechanisms of vascular occlusion in Fabry disease is warranted.

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