NINDS Sturge-Weber Syndrome Information Page: NINDS

Article title: NINDS Sturge-Weber Syndrome Information Page: NINDS

Main condition: Sturge-Weber Syndrome

Conditions: Sturge-Weber Syndrome

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What is Sturge-Weber Syndrome?
Sturge-Weber syndrome (also called "encephalotrigeminal angiomatosis") is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Symptoms of the disorder, which vary widely among patients, may include eye and internal organ irregularities. The most apparent symptom is a facial birthmark or port wine stain which is present at birth and usually involves at least one upper eyelid and the forehead. The stain, varying from light pink to deep purple, is caused by an overabundance of capillaries just beneath the surface of the affected skin. Neurological symptoms include excessive blood vessel growth on the surface of the brain (angiomas). These angiomas are typically located on the posterior or occipital region of the brain and cause seizures, which often start before one year of age and may worsen with age. The convulsions usually appear on the side of the body opposite the port wine stain and vary in severity. A weakening or loss of use of the side of the body opposite the port wine stain (hemiparesis) may also develop. Developmental delay of motor and cognitive skills may occur. Glaucoma (increased pressure within the eye) may be present at birth or develop later. Buphthalmos (enlargement of the coatings of the eye) may also occur in the eye that is affected by the port wine stain. Sturge-Weber syndrome rarely affects other body organs.

Is there any treatment?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment is available to lighten and/or remove port wine stains. Anticonvulsant medications may be used to control seizures. Surgery and/or eyedrops may be prescribed to control glaucoma.

What is the prognosis?
Although SWS-related seizures can sometimes place patients in potentially life-threatening situations, the disease itself is not fatal.

What research is being done?
The NINDS supports a broad program of research to better understand congenital and seizure disorders such as Sturge-Weber syndrome.

Selected references

Ito, M, et al.
Sturge-Weber Disease: Operative Indications and Surgical Results. Brain Development, 12; 473-477 (1990).

Lewis, R.
Erasing Skin Marks with Lasers. FDA Consumer, Food and Drug Administration, Rockville, Md, pp. 23-26 (March 1992).

Wyngaarden, J, et al (eds).
Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, p. 2144 (1992).

 Organizations

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Eye Institute (NEI)
National Institutes of Health
Bldg. 31, Rm. 6A32
Bethesda, MD 20892-2510
2020@b31.nei.nih.gov
http://www.nei.nih.gov/
Tel: 301-496-5248 Professionals 800-869-2020

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
Tel: 301-496-5133 800-370-2943

Sturge-Weber Foundation
P.O. Box 418
Mt. Freedom, NJ 07970
swfoffice@aol.com
http://www.sturge-weber.com/
Tel: 973-895-4445 800-627-5482
Fax: 973-895-4846

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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