Abstract

Sturge–Weber syndrome (SWS) is a rare congenital disorder belongs to a group of disorders collectively known as the phakomatoses (“mother-spot” diseases). It consists of congenital hamartomatous malformations that may affect the eye, skin, and central nervous system (CNS) at different times, characterized by the combination of venous angiomas of leptomeninges, face, jaws and oral soft tissues. We hereby report a 14 year old female presented with port wine stain and seizures and was diagnosed as Sturge-Weber syndrome after investigation (MRI). The co-occurrence of Sturge-Weber with facial nevus is 8% only.

Key words: Cerebral atrophy, Phakomatosis, Port-wine stain