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Case Studies | Pediatrics | India | Volume 12 Issue 5, May 2023 | Popularity: 4.3 / 10

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Case Study on Rare Disease: Sturge - Weber Syndrome

Dr. Jay Patel, Dr. M. R. Rashvi Rajan, Dr. Kirti Mehta, Dr. Upendra Chaudhari

Abstract: The Sturge-Weber syndrome (SWS) is a rare congenital disorder that occurs sporadically and features lesions of both skin and nervous system. We report a case of 5 year-old girl with Sturge-Weber syndrome and discuss its clinicopathological features, differential diagnosis and also emphasize the importance of its diagnosis in the clinical paediatrics. The classic pathognomonic manifestations include angioma of the leptomeninges extending to cerebral cortex with ipsilateral angiomatous lesions, unilateral facial nevus affecting a division of trigeminal nerve, hemiparesis, intracranial calcification, mental retardation and refractory epilepsy. The most apparent indication of SWS is a facial birthmark or "Port Wine Stain" present at birth and typically involving at least one upper eyelid and the forehead. Management of a patient with Sturge-Weber Syndrome may be challenging due to risk of hemorrhage.

Keywords: Sturge-Weber Syndrome; Angiomatosis; Glucoma; Refractory epilepsy

Edition: Volume 12 Issue 5, May 2023

Pages: 93 - 95

DOI: https://www.doi.org/10.21275/SR23429190218

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