(Also Called 'Encephalotrigeminal Angiomatosis')
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 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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone: 914.428.7100 or 888.MODIMES (663-4637)
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06813-1968
Phone: 203.744.0100 or Voice Mail 800.999.NORD (6673)
National Eye Institute (NEI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda, MD 20892-2510
Phone: : 301.496.5248
P.O. Box 418
Mt. Freedom, NJ 07970
Phone: 973.895.4445 or 800.627.5482
Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
Phone: 877.VBF.4646 (823.4646)
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 10/4/2011...#6074