Sturge-Weber Syndrome

Overview

Synonym(s): Encephalotrigeminal Angiomatosis

What is Sturge-Weber syndrome?

Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.

Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark.

Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be intermittent or permanent muscle weakness on the same side.

Some children will have developmental delays and cognitive impairment; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs.

Is there any treatment for Sturge-Weber syndrome?

Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.

What is the prognosis for Sturge-Weber syndrome?

Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.

What research is being done on Sturge-Weber syndrome?

The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.

Resources

Organizations

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

askus@marchofdimes.com

www.marchofdimes.com

Tel: 914-997-4488; 888-MODIMES (663-4637)

Fax: 914-428-8203

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury, CT 06810

orphan@rarediseases.org

www.rarediseases.org

Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)

Fax: 203-798-2291

National Eye Institute (NEI)

National Institutes of Health, DHHS

31 Center Drive, Rm. 6A32 MSC 2510

Bethesda, MD 20892-2510

2020@nei.nih.gov

www.nei.nih.gov

Tel: 301-496-5248

Sturge-Weber Foundation

P.O. Box 418

Mt. Freedom, NJ 07970

SWF@sturge-weber.org

www.sturge-weber.org

Tel: 973-895-4445; 800-627-5482

Fax: 973-895-4846

Vascular Birthmarks Foundation

P.O. Box 106

Latham, NY 12110

hvbf@aol.com

birthmark.org

Tel: 877-VBF-4646 (823-4646)

Source: *National Institutes of Health; National Institute of Neurological Disorders and Stroke*

Last reviewed by a Cleveland Clinic medical professional on 06/30/2015.

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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy