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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 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.
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