Sturge Weber Syndrome Type 1: Case Report and Literature Review
*Corresponding Author:
Copyright: © 2021 . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Sturge Weber Syndrome is caused by a somatic mosaic mutation in GNAQ gene leading to capillarymalformations. It is characterized by port-wine stain, leptomeningeal angioma, glaucoma, seizures and mentalretardation. We present a case of Sturge Weber Syndrome from Nepal. We also have emphasized on the review ofliterature of other reported cases of this syndrome from Nepal.
