期刊名称：Nepal Journal of Dermatology, Venereology & Leprology
印刷版ISSN：2091-0231
出版年度：2020
卷号：18
期号：1
语种：English
出版社：Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
摘要：Sturge-Weber syndrome (SWS) is a neurocutaneous sporadic disorder caused by mutation in GNAQ gene responsible for persistence of vascular plexus around cephalic portion of neural tube. It has a wide spectrum of cutaneous, neurologic and ophthalmic manifestations, which may or may not be associated with one another. Roach scale has classified it into three types. Here, we present a case of Roach’s Type II variant of SWS with Port-wine stain (PWS) and ocular abnormalities without Central Nervous System (CNS) involvement. A 24 months old female presented with hemangioma involving the left side of face since birth. She had history of corneal edema and buphthalmos at two days of life. There was no history of seizure or developmental delay and Magnetic Resonance Imaging (MRI) of the head ruled out cranial hemangioma. Roach’s Type II is a rare variant of SWS and should be suspected in any case having PWS along the course of trigeminal nerve with congenital glaucoma because the neurologic involvement in a given case may vary from an absence to overt clinical manifestations with or without radiological changes. Due to its wide range of manifestations, a multidisciplinary approach is required for proper management of these patients.
