Health Library

Sturge-Weber Syndrome

SWS usually includes an area of unusual coloring on the face that looks like a red or purple birthmark, often called a port-wine birthmark, commonly on one side of the face. This is known as a capillary malformation. SWS can also include eye problems where there is too much pressure inside the eyes, called glaucoma. Sometimes there is a growth of blood vessels in the eye called choroidal hemangioma. Brain issues that can occur with SWS consist of unusual blood flow in the brain and the outer lining of the brain that can lead to seizures and developmental delays.

A genetic change has been identified in Sturge-Weber syndrome. It can be found in the affected skin and brain, but not in the normal tissue nearby. But this genetic change can also appear in other conditions, so genetic tests cannot definitively diagnose Sturge-Weber syndrome.

What are the Signs and Symptoms of Sturge-Weber Syndrome?

Skin: A capillary malformation (red or purple birthmark) can be present on the face. The lesion is on one or both sides. Brain involvement is most often seen when a lesion is on the forehead. Eye problems are most often seen when the malformation includes the eyelids.

Eye: High pressure in an eye may not have any symptoms, or there may be redness or watering of the eye (tearing). Older children may have fuzzy or unclear vision on the side with the malformation. When the pressure increases very early in life, the eyeball can get bigger. An eye doctor can measure the pressure of the eye. If glaucoma is present, the pressure of the eye will be higher in the eye with the malformation.

Brain: Symptoms differ from person to person. Some patients have no symptoms. Others have migraines, seizures, weakness or paralysis (not able to move) on one side. Some patients will have varying developmental disabilities.

How is Sturge-Weber Syndrome Diagnosed?

Tests should be performed when a malformation is on the forehead or the upper eyelid. An eye examination can determine if glaucoma (high pressure in the affected eye), buphthalmos (enlargement of the affected eye), or other problems are present. They can determine if the vision has been affected. A special type of scan called contrast-enhanced magnetic resonance imaging (MRI) is used to see if there are any issues inside the brain.

What are Possible Complications of Sturge-Weber Syndrome?

Skin:

• The capillary mark can darken or thicken.
• The tissues underneath the skin might grow too much, causing differences in facial shape.

Eye:

• Glaucoma (too much pressure in the eye) can cause damage to the optic nerve
• Buphthalmos (enlargement of the affected eye)
• Choroidal hemangioma (a non-cancerous tumor in the back of the eye), with the possibility of retinal detachment
• Decreased vision
• Blindness

Brain:

• Seizures (convulsions) commonly start during early childhood
• Weakness or paralysis on one side
• Developmental delays, learning disabilities or intellectual disability

How is Sturge-Weber Syndrome Treated?

A team approach to treatment is needed, and depends on the patient’s symptoms and test results.

Skin: Laser therapy helps to get rid of the problem blood vessel and can lighten the capillary malformation after multiple treatments. The degree of lightening and the number of treatments needed is determined on an individual basis. Laser treatments decrease the likelihood of darkening and thickening of the lesion over time if done early in life.

Eye: Early and frequent eye exams are essential. Glaucoma can be treated by an eye doctor with eye drops or medications by mouth. If this does not work, surgery may be necessary.

Brain: Seizures are treated by a doctor using medications. If these treatments do not work, surgical treatment may be considered. Physical therapy is an important part of the treatment of weakness and paralysis.