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Fabry’s Disease Presenting as Stroke in a Young Female

Published online by Cambridge University Press:  02 December 2014

Paul S. Giacomini
Affiliation:
McGill University Health Center, Department of Neurology and Neurosurgery, Montreal, Quebec
Patrick T. Shannon
Affiliation:
Department of Neuropathology, University of Toronto School of Medicine, Toronto, Ontario, Canada
Joe T.R. Clarke
Affiliation:
Department of Pediatrics, University of Toronto School of Medicine, Toronto, Ontario, Canada
Cheryl Jaigobin
Affiliation:
Department of Neurology, University of Toronto School of Medicine, Toronto, Ontario, Canada
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Abstract

Background:

Fabry’s disease is an X-linked disorder, caused by a deficiency of the lysosomal enzyme α-galactosidase A which results in the accumulation of the glycosphingolipid, ceramide trihexose in the vascular endothelium and can lead to cerebral infarction. Male hemizygotes are generally more severely affected than heterozygote females. Clinical disease in females is thought to be due to unequal X chromosome inactivation.

Case:

A 19-year-old woman, who was previously well, presented with neurological deficits secondary to basal ganglia and pontine infarction. Extensive cardiac, arterial and hematologic investigations did not identify the etiology of her stroke. Muscle biopsy revealed endothelial lysosomal aggregates most consistent with a diagnosis of Fabry’s disease. The diagnosis was confirmed on the basis of molecular genotype analysis.

Discussion:

Inherited causes of stroke such as Fabry’s disease should be considered in young patients with stroke if an etiologic diagnosis is not reached after complete investigations. Muscle biopsy can assist with the diagnosis and guide further investigations. This report summarizes the biochemical and histological features of Fabry’s disease and the associated genetic abnormalities.

Type
Case Report
Copyright
Copyright © The Canadian Journal of Neurological 2004

References

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