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.

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 impaired cognition or developmental delays.  Doctors recommend yearly monitoring for glaucoma.

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.

Research

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.

Organizations

March of Dimes
Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.

1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: White Plains
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: Danbury
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: Bethesda

Sturge-Weber Foundation
International non-profit organization established for support, referral, advocacy, and research into the management and cause of Sturge-Weber Syndrome (SWS). Also serves parents, professionals, and others concerned with Klippel-Trenaunay Syndrome and port wine stain.

P.O. Box 418
Mt. Freedom, NJ 07970
SWF@sturge-weber.org
http://www.sturge-weber.org
Tel: Mt. Freedom
Fax: 973-895-4846

Content Provided By

NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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