Sturge–Weber syndrome: advances in diagnostic testing and treatment

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Abstract

Sturge–Weber syndrome (SWS) is a sporadic, congenital disorder that impairs the development of the skin, eye and brain. Owing to its multisystem clinical manifestations, a multidisciplinary approach from dermatologists, neurologists and ophthalmologists is required. This article reviews data on pathogenesis, diagnosis and treatment of SWS with a focus on neurologic and dermatologic abnormalities. In terms of diagnosis, MRI, PET and electroencephalogram are discussed. Treatment of seizures includes prophylactic anti-epileptic medications, focal resection and hemispherectomy. Various treatment options for port-wine stains are also discussed, including pulsed-dye laser and new techniques, such as photodynamic therapy and the concurrent use of diagnostic imaging with pulsed-dye laser. Data supporting different theories of pathogenesis are also reviewed.

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