Sturge-Weber Syndrome

Kelly A. Harmon, Anne M. Comi

Research output: Contribution to journalReview articlepeer-review


Purpose of Review: The goal of this paper is to discuss recent developments in the diagnosis, neuroimaging, and treatment of Sturge-Weber Syndrome. Recent Findings: Diagnosis and treatment in Sturge-Weber syndrome is evolving in the context of the recent discovery of the underlying somatic mutation in G protein subunit alpha q (GNAQ), development of novel neuroimaging techniques, as well as new multi-centered clinical trials. Summary: Sturge-Weber Syndrome is a rare, non-familial disorder that is typically characterized by the association of a facial capillary malformation with a leptomeningeal angioma of the brain and/or eye. This review will summarize the latest progress in Sturge-Weber syndrome clinical care and highlight areas of current controversy and need for future research.

Original languageEnglish (US)
Pages (from-to)16-25
Number of pages10
JournalCurrent Pediatrics Reports
Issue number1
StatePublished - Mar 2018


  • Epilepsy
  • Glaucoma
  • GNAQ
  • Port-wine birthmark
  • Somatic mosaic mutation
  • Sturge–weber syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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