A MODERN VIEW OF THE PATHOPHYSIOLOGY OF STURGE-WEBER SYNDROME

Abstract

This article reviews the pathophysiology of Sturge-Weber syndrome. This syndrome is a multisystem disorder characterized by vascular malformations in the brain, angiomatosis in the face, and abnormal blood vessels in the eyes. Although the R183Q GNAQ mutation is considered a Sturge-Weber syndrome gene mutation, recent studies indicate that somatic mutations in GNA11 and GNB2 are also associated with this syndrome. Further studies are needed to better understand the genetic pathology underlying Sturge-Weber syndrome.