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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 run in families. SWS 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 a somatic mutation in the GNAQ gene. The extent of involvement varies greatly from patient to patient, probably depending on the location and timing of this mutation during fetal development. More research is needed to understand this mutation, how to use that knowledge to treat SWS, and how to prevent the medical and developmental problems resulting from it.

How is Sturge-Weber Syndrome diagnosed?

The typical diagnosis of SWS depends on a facial port-wine birthmark combined with glaucoma (increased pressure in the eye) and abnormal blood vessels in the brain. Neurologic, ophthalmologic, dermatologic and other evaluations are therefore recommended to make the diagnosis of SWS and screen for associated complications. However, SWS is a spectrum disorder, and therefore individuals can have brain involvement only, eye involvement only, or skin involvement only; likewise patients can have any combination of the two structures involved. 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, but imaging may not detect it until after 2 years of life. Neurological symptoms occasionally start in infancy but can start 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 necessary. Ischemic strokes and migraine headaches are also treated. If diagnosed promptly, treatment can save cognitive functioning and lessen the impact of physical limb weakness. However, it can be a progressive syndrome, and varying degrees of presentation can be expected depending on the age of seizure onset. Low dose aspirin is another treatment option utilized by some patients. Eye involvement is treated with drops or surgery to decrease the pressure. The birthmark is treated with laser treatment.

Frequently Asked Questions about SWS

My first child has SWS; will any other children be at higher risk for it?

SWS is not caused by a gene defect that is carried in the sperm or egg of a parent. It is caused by a spontaneous mistake (mutation) of the GNAQ gene in one cell at some time after conception has occurred. This cell with the SWS somatic mutation occurring early in fetal development continues to divide and passes the mutation on to the "daughter" cells created in that area of the body. These cells have the mutation and the rest of the body does not. Since the parents are not "carrying" the disease, then the chances of another child having SWS are no higher than they would be for any other parents.

A classical diagnosis of SWS includes brain involvement with the abnormal blood vessels-although the term can also refer to those who have skin and eye involvement but no brain involvement at all. Often it is easiest to refer specifically to the type of involvement the individual has, ie. "Sturge-Weber syndrome brain and skin involvement" or "Sturge-Weber syndrome brain involvement only" etc. Even in those with brain involvement, the degree to which the brain is "damaged", if at all, varies from one individual to another. Some people have blood vessel abnormalities in the brain without seizures, intellectual impairment, or any obvious impact.

Some children with stroke-like episodes eventually develop permanent weakness, but many regain use of the limb within 72 hours of the onset of weakness. Most of the episodes occur at the time of seizures and treatment is directed toward the associated seizures. Permanent weakness is more likely to occur in infants and young children. If you detect what appears to be the sudden onset of weakness in an arm and hand, leg, or face, seek immediate medical attention.

No. However, everyone with SWS should be checked regularly by an ophthalmologist. We recommend check-ups every three months in the first year of life. Glaucoma may occur with no symptoms at all until it is too late to salvage vision. Routine screening is very important, even if there are no symptoms at all. Telltale signs include a bulging, pain, or excessive watering of the eye (usually the one involved with PWS). Glaucoma can start at any time so monitoring should continue at least yearly for life.

If left untreated, capillary vascular malformations may develop problems later in life, typically around the 3rd to 4th decade. Over time they may thicken, darken or develop nodules (bumps). Current practice is to treat the malformation with a laser at a very young age. One of the benefits of treating an infant is that the surface area is smaller and can be treated with fewer repeated procedures. However, reducing the size and appearance of the skin lesions DOES NOTHING for the eye and brain complications of SWS.

Capillary vascular malformations treated by laser can reoccur with time and may need maintenance treatments periodically to prevent re-darkening of the birthmark.

The port-wine birthmark grows commensurate (along with) the child. The PWS may become thicker or produce bumps and nodules in time, but the involved area will not extend or become greater.