Sturge-Weber Syndrome Overview
Learn About Sturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
Encephalotrigeminal angiomatosis; SWS
In many people, the cause of Sturge-Weber is due to a variation of the GNAQ gene. This gene affects small blood vessels called capillaries in some but not all body cells. Problems in the capillaries cause the port-wine stains to form.
Sturge-Weber is not thought to be passed down (inherited) through families.
Symptoms of SWS include:
- Port-wine stain (more common on the upper face and eyelid than the rest of the body)
- Seizures
- Headache
- Paralysis or weakness on one side
- Learning disabilities
- Glaucoma (very high fluid pressure in the eye)
- Low thyroid function (hypothyroidism)
Treatment is based on the person's signs and symptoms, and may include:
- Anticonvulsant medicines for seizures
- Eye drops or surgery to treat glaucoma
- Laser therapy for port-wine stains
- Physical therapy for paralysis or weakness
- Possible brain surgery to prevent seizures
Kennedy Krieger Associates
Anne Comi is a Pediatric Neurologist and a Pediatrics provider in Baltimore, Maryland. Dr. Comi and is rated as an Elite provider by MediFind in the treatment of Sturge-Weber Syndrome. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, and Epilepsy in Children. Dr. Comi is currently accepting new patients.
Hidenori Sugano practices in Tokyo, Japan. Sugano and is rated as an Elite expert by MediFind in the treatment of Sturge-Weber Syndrome. Their top areas of expertise are Sturge-Weber Syndrome, Hemangioma, Parkes Weber Syndrome, and Epilepsy.
Madoka Nakajima practices in Hongo, Japan. Nakajima and is rated as an Elite expert by MediFind in the treatment of Sturge-Weber Syndrome. Her top areas of expertise are Normal Pressure Hydrocephalus, Hydrocephalus, Sturge-Weber Syndrome, Hemangioma, and Deep Brain Stimulation.
More information and support for people with SWS and their families can be found at:
- The Sturge-Weber Foundation -- sturge-weber.org
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome
SWS is usually not life threatening. The condition does need regular lifelong follow-up. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated.
The person will need to visit an eye doctor (ophthalmologist) at least once a year to check for or treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
These complications can occur:
- Abnormal blood vessel growth in the skull
- Continued growth of the port-wine stain
- Developmental delays
- Emotional and behavioral problems
- Glaucoma, which may lead to blindness
- Paralysis
- Seizures
Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.
There is no known prevention.
Summary: Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. The purpose of this study is to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients. The research aims are: 1. To integrate longitudinal clinical data, radiological data, and blood bioma...
Summary: In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disor...
Published Date: December 31, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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