STURGE WEBER SYNDROME- A CASE REPORTJournal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 4)
Publication Date: 2019-05-30
Authors : RATHNA PRIYA DHARSHINI G;
Page : 119-120
Keywords : Angiomas; Port wine stain; Sturge Weber syndrome (SWS);
SturgeWeber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with SturgeWeber syndrome. We report a case which presented with facial port wine stain ,leptomeningeal angiomas and focal seizures.
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Last modified: 2019-05-31 19:26:35