Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood vessels and abnormal venous eye vessels. Occurrence is sporadic in both males and females and reported in all racial and ethnic backgrounds. The genetic cause accounting for SWS is a somatic mosaic mutation in the GNAQ gene encoding the Gαq protein. Testing for this somatic mosaic mutation is useful for differentiating an SWS diagnosis in these patients from other capillary malformation-related syndromes, such as megalencephaly capillary malformation-polymicrogyria syndrome, which also have capillary malformations but are otherwise different in terms of prognosis and associated complications. Recent research efforts have focused on identifying the cellular localization of the somatic mutation and work to develop new in vitro and animal models, novel treatment strategies, and new insights into the pathophysiology of this vascular malformation disorder.