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A Rare Case of Sturge–Weber Syndrome with Bilateral Involvement and Extension of Port-Wine Stain to the Body

Abstract:
Purpose: To report a rare case of Sturge–Weber syndrome (SWS) presenting with bilateral facial and ocular involvement, associated megalocornea, and extension of port-wine stain to the body.

Observation: A 21-year-old female presented with redness and pain in the right eye and a history of extensive cutaneous discoloration since birth. Ocular examination revealed bilateral raised episcleral venous pressure, megalocornea in the right eye, and glaucomatous optic neuropathy in both eyes. The port-wine stain extended beyond the face to involve the right upper and lower limbs and trunk.

Conclusion: Bilateral ocular and systemic involvement in SWS is uncommon. This case underscores the wide phenotypic spectrum of the disease and highlights the importance of early detection and multidisciplinary management.