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NINDS Sturge-Weber Syndrome Information Page

Synonym(s):   Encephalotrigeminal Angiomatosis

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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 mental retardation; 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?

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 mental retardation or developmental delays.  Doctors recommend yearly monitoring for glaucoma.

What is the prognosis?

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?

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.

NIH Patient Recruitment for Sturge-Weber Syndrome Clinical Trials

Organizations

Column1 Column2
March of Dimes
1275 Mamaroneck Avenue
White Plains, NY   10605
askus@marchofdimes.com
http://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
http://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
http://www.nei.nih.gov
Tel: 301-496-5248

Sturge-Weber Foundation
P.O. Box 418
Mt. Freedom, NJ   07970
SWF@sturge-weber.org
http://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
http://birthmark.org
Tel: 877-VBF-4646 (823-4646)

 


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated October 4, 2011