|
Sturge-Weber Syndrome Synonym(s): Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Sturge-Weber Syndrome?Is there any treatment? What is the prognosis? What research is being done? Organizations 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? What is the prognosis? What research is being done? March of Dimes Birth Defects Foundation
National Organization for Rare Disorders (NORD)
National Eye Institute (NEI)
National Institute of Child Health and Human
Development (NICHD)
Sturge-Weber Foundation
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. Provided by: | |||