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Sturge-Weber Syndrome

By

M. Cristina Victorio

, MD, Akron Children's Hospital

Last full review/revision Mar 2020| Content last modified Mar 2020
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Sturge-Weber syndrome involves an abnormal growth of 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.

  • Sturge-Weber syndrome is caused by a mutation in a gene.

  • This disorder can cause seizures, weakness, intellectual disability, 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 of the head to check for angiomas.

  • Treatment focuses on relieving or preventing symptoms.

Sturge-Weber syndrome is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous).

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 Seizures in Children Seizures are a periodic disturbance of the brain’s electrical activity, resulting in some degree of temporary brain dysfunction. When older infants or young children have seizures, they often... read more 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 Glaucoma Glaucomas are a group of eye disorders characterized by progressive optic nerve damage (often, but not always, associated with increased eye pressure) that can lead to irreversible loss of vision... read more ) and affect vision. Abnormalities in the walls of arteries may increase the risk of strokes Overview of Stroke A stroke occurs when an artery to the brain becomes blocked or ruptures, resulting in death of an area of brain tissue due to loss of its blood supply (cerebral infarction) and symptoms that... read more .

Symptoms of Sturge-Weber Syndrome

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 Seizures in Children Seizures are a periodic disturbance of the brain’s electrical activity, resulting in some degree of temporary brain dysfunction. When older infants or young children have seizures, they often... read more 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 disability Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more . Intellectual disability is more severe in people whose seizures start before 2 years of age and cannot be controlled with drugs. Development of motor and language skills may be delayed.

Glaucoma Glaucoma Glaucomas are a group of eye disorders characterized by progressive optic nerve damage (often, but not always, associated with increased eye pressure) that can lead to irreversible loss of vision... read more 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 of Sturge-Weber Syndrome

Treatment of Sturge-Weber Syndrome

  • Treatment of symptoms

Treatment of Sturge-Weber syndrome focuses on relieving symptoms.

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.

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