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Marfan's syndrome is a connective tissue disorder responsible for an extensive and generalized malformation of organs and systems. An estimate of the risk of developing a cerebrovascular event in Marfan's syndrome is entirely elusive, both in general and for a particular patient. Severity of the vascular malformations differs from patient to patient and, in the worst cases, the chance of a disastrous event is largely related to other than neurological causes. Valvular dysfunction and disturbances of cardiac rhythm can produce embolic strokes basically no different from any other embolic stroke. Intracerebral aneurysms and aneurysmal rupture have for a long time been considered frequent complications of Marfan's syndrome. However, there are currently no prophylactic or curative medical treatments for the crucial Marfan's anomalies. Additional progress in understanding genetics and biochemical defects and in the elucidation of the ultimate mechanisms related to malformations in Marfan's syndrome are expected in the near future.
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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