Sturge-Weber syndrome

Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder characterized by a facial capillary malformation (port-wine birthmark), leptomeningeal angiomatosis (abnormal blood vessels on the surface of the brain), and glaucoma. It is caused by a somatic mosaic activating mutation in the GNAQ gene, which occurs during early embryonic development. Because the mutation is somatic rather than inherited, it affects only a portion of the body's cells, and the severity of the condition depends on when during development the mutation arises and which tissues are affected. The hallmark feature is a port-wine birthmark, typically present at birth, most commonly involving the forehead and upper eyelid in the distribution of the ophthalmic branch (V1) of the trigeminal nerve. Leptomeningeal angiomatosis, usually on the same side as the facial birthmark, can lead to seizures, hemiparesis (weakness on one side of the body), intellectual disability, and stroke-like episodes. Seizures often begin in infancy and may become progressively difficult to control. Glaucoma, which can be present at birth or develop later, affects the eye on the same side as the birthmark and can lead to vision loss if untreated. Some patients may have only partial features of the syndrome. There is currently no cure for Sturge-Weber syndrome, and treatment is directed at managing symptoms. Seizures are treated with antiepileptic medications, and in refractory cases, surgical options such as hemispherectomy may be considered. Glaucoma is managed with eye drops, laser therapy, or surgery to reduce intraocular pressure. Pulsed dye laser therapy can be used to lighten the port-wine birthmark. Low-dose aspirin therapy has been investigated as a potential neuroprotective strategy to reduce the frequency of stroke-like episodes and seizures. Regular monitoring by a multidisciplinary team including neurologists, ophthalmologists, and dermatologists is essential for optimal management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Sturge-Weber syndrome