Sturge-Weber Syndrome (SWS) is the association of a facial port-wine stain with abnormal vessels on the surface of the brain (leptomeningeal angioma), glaucoma or both.
Some people 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 (in about 85 percent) or both sides of the body (in about 15 percent).
The presence of a port-wine stain involving the forehead or eyelids 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 2013, researchers at Kennedy Krieger Institute were able to identify the mutation that causes Sturge-Weber Syndrome. For more information on this discovery, please go to the Hunter Nelson Sturge-Weber Syndrome Center site.
Treatments are available for many of the complications of the disease. More research is needed to develop better treatments for SWS, how to treat it, and how to prevent the medical and developmental problems resulting from it.