May also be called: SWS, Encephalotrigeminal Angiomatosis
Sturge-Weber (STURJ-WEB-ur) syndrome is a rare disorder that is present at birth that causes facial birthmarks (port-wine stains) and other symptoms.
Sturge-Weber syndrome is caused by a random mutation in one of a baby’s genes. Doctors don’t know what causes the mutation, but it doesn’t appear to run in families. The mutation can cause tiny blood vessels (capillaries) to grow uncontrolled in the area of the face and brain. Each case of Sturge-Weber is unique, and symptoms vary widely.
Abnormal capillary growth in the face leads to a port-wine stain that is present at birth and usually covers at least one upper eyelid and the forehead. These birthmarks can range in color from light pink to dark purple and may get darker with age. Abnormal capillary growth near the brain can lead to neurological problems, such as seizures that can begin before the first birthday and get more severe with age. A child also may experience seizures that affect the side of the body opposite from the port-wine stain.
About half of all people with Sturge-Weber also develop glaucoma (increased pressure inside the eye that impairs vision), typically in the eye that is affected by the port-wine stain. That eye also might be enlarged (a condition called buphthalmos). Some kids who have this condition also experience strokes.
Children as young as 1 month old who have Sturge-Weber can undergo laser treatment to reduce or remove port-wine stains. Anticonvulsant medication may be used to control seizures. Surgery can control glaucoma and vision problems, as well as seizures in children who do not respond to medications.
There is no cure for Sturge-Weber syndrome, but treatments, medications, and surgery can help a child cope with the health problems associated with the disease. A support group or therapist may be able to help with any psychological issues.
All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.
