What is Sturge-Weber syndrome?

Sturge-Weber syndrome (SWS) is the association of a facial port-wine birthmark with glaucoma, abnormal vessels on the surface of the brain or both. Some children or adults have an isolated intracranial variant, meaning abnormal brain blood vessels with no skin or eye symptoms. SWS does NOT generally run in families. It can affect one side of the body or brain (in about 85 percent of cases) or both sides (in about 15 percent of cases).

The presence of a port-wine birthmark involving the forehead or upper eyelid raises the suspicion of SWS. These infants and children must be followed closely for other medical issues, including vision problems, epilepsy and developmental delays. In addition to the port-wine stain, children with SWS may experience seizures, weakness on one side of the body (hemiparesis), developmental delays and increased pressure in the eye (glaucoma).

Treatment

Seizures occur in more than 80 percent of children diagnosed with SWS. Approximately 25 percent of those children achieve full seizure control with medication, 50 percent receive partial seizure control and 25 percent receive no seizure control from medication. In more severe cases, a hemispherectomy may be performed.