Sturge Weber Syndrome Type 1: Case Report and Literature Review
Sturge Weber Syndrome is caused by a somatic mosaic mutation in GNAQ gene leading to capillary malformations. It is characterized by port-wine stain, leptomeningeal angioma, glaucoma, seizures and mental retardation. We present a case of Sturge Weber Syndrome from Nepal. We also have emphasized on the review of literature of other reported cases of this syndrome from Nepal.