Sturge-Weber Syndrome: A Case Embedded With All the Features of Spectrum

Abstract

Sturge-Weber syndrome (SWS) is a rare neurocutaneous vascular disorder characterized by a facial birthmark known as a port-wine stain (PWS), eye abnormalities, and abnormal blood vessels in the brain. It is basically a multisystem disorder that can involve the nervous system, skin, and eyes (phakomatosis). We report a case of a 14-year-old female who presented to the outpatient department with a complaint of upper lip swelling. She had a visible PWS since birth on the left side of her face, which was extending onto the right side of the face as well. She had two episodes of paroxysmal hemiparesis that were four years apart. Moreover, she was diagnosed with epilepsy when she was three years old. She was treated for glaucoma as well when she was nine years old. She was diagnosed with SWS based on her medical history, grossly visible PWS, and neuroimaging findings. Treatment is mostly symptomatic, as no definitive treatment is yet available.