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Sturge-Weber Syndrome ˈstərj-ˈweb-ər-

By Margaret C. McBride, MD, Professor of Pediatrics;Pediatric Neurologist, NeuroDevelopmental Science Center, Northeast Ohio Medical University;Akron Children’s Hospital ; M. Cristina Victorio, MD, Assistant Professor in Pediatrics;Director, Headache Program; Pediatric Neurologist, Northeast Ohio Medical University;Akron Children's Hospital

Sturge-Weber syndrome affects small blood vessels. It is characterized by a port-wine birthmark on the face, overgrowth of blood vessels (angioma) in the tissues that cover the brain, or both.

  • This disorder can cause seizures, weakness, intellectual impairment, and increased pressure in an eye (glaucoma) and can increase the risk of stroke.

  • If children have a typical birthmark, doctors suspect the disorder and may do an imaging test to check for angiomas.

  • Treatment focuses on relieving or preventing symptoms.

Sturge-Weber syndrome is present at birth in about 1 of 50,000 people but is not inherited. It is caused by a spontaneous mutation in a gene.

This syndrome affects blood vessels, particularly vessels in the skin, in the tissues that cover the brain, and in the eye. The port-wine birthmark is caused by an overgrowth of small blood vessels (capillaries) just under the skin. Angiomas (overgrowths of capillaries in the tissues covering the brain) cause seizures and may cause weakness on one side of the body. Angiomas may reduce blood flow in the part of the brain under them. Similar abnormal blood vessels in the eye may increase pressure within the eye (causing glaucoma) and affect vision. Abnormalities in the walls of arteries may increase the risk of strokes.

Symptoms

The port-wine birthmark varies in size and color, ranging from light pink to deep purple. It usually appears on the forehead and upper eyelid of one eye but may also include the lower eyelid and face. If both eyelids are involved, people are much more likely to have an angioma in the tissues covering the brain.

Seizures occur in about 75 to 90% of people and typically start by the time children are 1 year old. Usually, seizures occur on only one side of the body, opposite the birthmark, but they may affect the whole body. About 25 to 50% of people have weakness or paralysis on the side opposite the birthmark. Coordination may be lost. The weakness or paralysis sometimes worsens, especially if seizures cannot be controlled. About 50% of people have some intellectual impairment. Impairment is more severe in people whose seizures start before age 2 years and cannot be controlled with drugs. Development of motor and language skills may be delayed.

Glaucoma may damage the optic nerve (which connects the brain to the eye), causing loss of vision, in the eye on the same side as the birthmark. Glaucoma may be present at birth or develop later. The eyeball may enlarge and bulge out.

Diagnosis

  • A doctor's evaluation

  • Magnetic resonance imaging or computed tomography

Doctors suspect Sturge-Weber syndrome in children with the characteristic birthmark.

Magnetic resonance imaging (MRI) is used to check for angiomas in the tissues covering the brain. In older children and adults, computed tomography is done if MRI is not available.

A neurologic examination is done to check for evidence of weakness, lack of coordination and/or paralysis, and an eye examination is done to check for eye problems.

Treatment

  • Treatment of symptoms

Treatment of Sturge-Weber syndrome focuses on relieving symptoms.

Anticonvulsants to control seizures and drugs to treat glaucoma are used. Surgery for glaucoma or surgery for seizures that recur despite drug treatment may be required.

People are usually given low doses of aspirin because aspirin may reduce the risk of strokes. Also, aspirin may improve blood flow in the part of the brain under the angioma. However, there is no proof that aspirin is effective.

Laser treatment may be used to lighten or remove the birthmark.