Von Hippel-Lindau disease and Sturge-Weber syndrome

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.

Keywords: Sturge–Weber syndrome (SWS); inherited cancer syndrome; phakomatosis; von Hippel–Lindau (VHL).