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19 - CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE

from PART II: - HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS

Published online by Cambridge University Press:  06 January 2010

Louis R. Caplan
Affiliation:
Beth Israel Deaconess Medical Center, Boston
Julien Bogousslavsky
Affiliation:
Valmont Clinique, Glion, Switzerland
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Summary

Fabry's disease (FD) or angiokeratoma corporis diffusum, is a rare X-linked inherited disorder of glycosphingolipid metabolism. This chapter analyzes the clinical, radiologic, and pathologic features of hemizygote and heterozygote FD patients and cerebrovascular involvement based on a comprehensive review of literature. Neuropathologic autopsy findings are consistent with prior events of cerebral ischemia and, rarely, hemorrhage. In FD, in addition to cerebral ischemia, dolichoectatic intracranial arteries may also cause neurovascular compression syndromes. Triventricular hydrocephalus related to dolichoectatic basilar artery has been reported in hemizygotic and heterozygotic patients. Magnetic resonance imaging (MRI) studies show progression of white-matter lesion load despite enzyme replacement therapy (ERT), although these patients did not show clinical neurologic progression. Administration of antiplatelet agents may help to prevent the atherosclerotic and thromboembolic effects of damage to the vascular endothelium, but experience with this approach is limited and the use of oral anticoagulant agents should also be considered.
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Publisher: Cambridge University Press
Print publication year: 2008

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