Neuropharmacology & Neurotherapeutics
Mar. 06, 2021
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Sturge-Weber syndrome is a rare, neurological disorder present at birth and characterized by a port-wine stain birthmark on the forehead and upper eyelid on 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 (small blood vessels) around the trigeminal nerve just beneath the surface of the face.
Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain's surface and the loss of tissue (atrophy) with deposits of calcium (calcification) in the cerebral cortex of the brain on the same side as the birthmark. Sturge-Weber syndrome rarely affects other body organs.
Neurological symptoms may include:
Treatment is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Physical therapy may help with muscle weakness and educational therapy may help those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.
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.
How can I or my loved one help improve care for people with Sturge-Weber syndrome?
Consider participating in a clinical trial so clinicians and scientists can learn more about Sturge-Weber syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Sturge-Weber syndrome at Clinicaltrials.gov.
Where can I find more information about Sturge-Weber syndrome?
Information may be available from the following organizations and resources:
March of Dimes
The Sturge-Weber Foundation
Vascular Birthmarks Foundation
Phone: 877- 823-4646
Content source: https://www.ninds.nih.gov/health-information/disorders/sturge-weber-syndrome Accessed July 17, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.