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Published on: August 14, 2017
Von Hippel-Lindau disease and Sturge-Weber syndrome
1Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States.
Abstract:
The primary neurologic involvement in both von Hippel-Lindau (VHL) disease and Sturge-Weber syndrome (SWS) is vascular tumor/vascular malformation, but molecular pathogenesis, long-term symptom evolution, and treatment are quite different. VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism. A diagnosis of VHL carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial vascular abnormalities.
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