Information for Patients and Families
Learn More
Sturge-Weber Syndrome (SWS)
What is Sturge-Weber Syndrome?
Sturge-Weber Syndrome (SWS) is the association of a facial port-wine birthmark with abnormal vessels on the surface of the brain, glaucoma, or both. 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. It can affect one side (in about 85%) or both sides (in about 15%) of the body or brain.
Who gets Sturge-Weber Syndrome?
SWS does NOT generally run in families. Sturge-Weber syndrome occurs almost equally in boys and girls around the world who have a port wine birthmark around the eye and forehead region of the face.
What causes Sturge-Weber Syndrome?
The underlying cause of SWS is unknown and the extent of involvement varies greatly from patient to patient. One likely possibility is that a genetic change early in fetal development occurs that affects only the involved region of the body. More research is needed to understand the causes of SWS, how to treat it, and how to prevent the medical and developmental problems resulting from it.
How is Sturge-Weber Syndrome diagnosed?
The diagnosis of Sturge-Weber syndrome (SWS) depends on a facial port-wine birthmark combined with glaucoma, abnormal blood vessels in the brain, or both. Neurologic, ophthalmologic, dermatologic and other evaluations are therefore recommended to make the diagnosis of SWS and screen for associated complications. Infants are born with the port-wine birthmark and a dermatologic evaluation can confirm that the birthmark is a port-wine birthmark. Seizures, early handedness or evidence of a visual gaze preference usually begin in the first two years of life. EEG and MRI imaging of the brain (with contrast) can make diagnosis of brain involvement. Neurological symptoms can occasionally start in later childhood or even in adulthood. Glaucoma has two peak periods: the first in infancy and the second in young adulthood. However, glaucoma can begin at any time and at-risk individuals should be examined by an ophthalmologist every few months for the first few years and then at least annually for life.
What is/is there treatment for Sturge-Weber Syndrome?
Treatment has been largely symptomatic and hampered by delayed diagnosis and the rarity of the syndrome. Typically, for the brain involvement causing seizures, the use of anti-convulsant medications is diagnosed. Ischemic strokes (small capillary vessel bleeds) and migraine headaches are also treated. If diagnosed promptly, treatment can save cognitive functioning and lessen the impact of physical limb weakness. However, it is a progressive syndrome, and varying degrees of presentation can be expected depending on the age of seizure onset.
