Von Hippel-Lindau disease and Sturge-Weber syndrome

Susan Perlman

doi:10.1016/B978-0-444-64076-5.00053-3

Von Hippel-Lindau disease and Sturge-Weber syndrome

Handb Clin Neurol. 2018:148:823-826. doi: 10.1016/B978-0-444-64076-5.00053-3.

Author

Susan Perlman¹

Affiliation

¹ Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States. Electronic address: sperlman@mednet.ucla.edu.

PMID: 29478617
DOI: 10.1016/B978-0-444-64076-5.00053-3

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).

Publication types

Review

MeSH terms

Germ-Line Mutation / genetics*
Humans
Sturge-Weber Syndrome*
von Hippel-Lindau Disease*