Sturge-Weber syndrome

A rare condition that affects the skin and the brain, caused by a spontaneous genetic mutation. How often it occurs in babies is not known, and because it is not often diagnosed, it is difficult to estimate how many children currently have the disease. The most obvious symptom of the disease is a PORT-WINE STAIN birthmark, typically involving at least one upper eyelid and the forehead. However, every case of Sturge- Weber is unique, and symptoms and skin abnormalities vary.

Neurological problems include unusual blood vessel growths on the brain called angiomas, which usually cause seizures beginning before one year of age and may get worse as the child grows. Seizures usually appear on the side of the body opposite the port-wine stain and vary in severity. About 30 percent of children with Sturge-Weber also develop glaucoma (increased pressure inside the eye that impairs vision). Glaucoma is usually restricted to the eye that is affected by the port-wine stain. This eye may also become enlarged. In some cases, strokes can occur.

Treatment
Children as young as one month old who have Sturge-Weber may undergo laser treatment to reduce or remove port-wine stains. Anticonvulsant medication may be used to control seizures associated with the disorder, and surgery is available to control glaucoma and vision problems.