Sturge-Weber Syndrome

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.