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Inherited and Uncommon Causes of Stroke

Majersik, Jennifer Juhl MD, MS

doi: 10.1212/CON.0000000000000432
Review Articles

ABSTRACT Purpose of Review: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke.

Recent Findings: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia. Moyamoya disease can cause either ischemic or hemorrhagic stroke; revascularization is recommended in some patients. Cerebral amyloid angiopathy causes both microhemorrhages and macrohemorrhages, resulting in typical stroke symptoms and progressive dementia. Pregnancy raises the risk of both ischemic and hemorrhagic stroke, particularly in women with preeclampsia/eclampsia. Pregnant women are also at risk for posterior reversible encephalopathy syndrome (PRES), reversible cerebral vasoconstriction syndrome, and cerebral venous sinus thrombosis. Experts recommend that pregnant women with acute ischemic stroke not be systematically denied the potential benefits of IV recombinant tissue plasminogen activator.

Summary: Neurologists should become familiar with these uncommon causes of stroke to provide future risk assessment and family counseling and to implement appropriate treatment plans to prevent recurrence.

Address correspondence to Dr Jennifer Juhl Majersik, University of Utah, 175 N Medical Center Dr, Third Floor, Salt Lake City, UT 84132,

Relationship Disclosure: Dr Majersik receives research/grant support from the National Institutes of Health (5U10NS086606) and Remedy Pharmaceuticals, Inc. Dr Majersik has served as an expert witness for FAVROS PLLC.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Majersik reports no disclosure.

© 2017 American Academy of Neurology
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