Sturge-Weber Syndrome

What is Sturge-Weber syndrome?

Sturge-Weber syndrome (SWS) is a rare neurological condition characterized by abnormal development of the small blood vessels (called capillaries) in the brain, eyes, and skin. In most cases, doctors diagnose SWS in infants. But sometimes, diagnosis happens in older children and (rarely) in adults. In people with SWS, blood doesn’t flow properly through these abnormal capillaries. This leads to blood pooling and lower levels of oxygen for the nearby tissues. This can also cause cerebral cortex atrophy (tissue loss in a part of the brain).

Symptoms of Sturge-Weber syndrome may include:

• A port-wine stain birthmark, which is usually present at birth on one side of the face around the eye or forehead. The birthmark can vary in color from light pink to deep purple and is caused by a high amount of capillaries under the skin. Most children with SWS have this birthmark.
• Seizures and convulsions. Seizures usually begin in infancy and may get worse with age. The convulsions usually happen on the side of the body opposite the birthmark and vary in how serious they are.
• Glaucoma (increased pressure within the eye), which can cause the eyeball to enlarge (buphthalmos). This usually starts in infancy and can cause blindness if not treated.
• Developmental delays and cognitive impairment.
• Headaches, including migraines.
• Stroke-like episodes that can cause weakness on one side of the body or affect memory and thinking.

Although it’s possible for the birthmark and the cerebral cortex atrophy to be present without symptoms, most infants with SWS will develop seizures during their first year of life. Intellectual impairment is more likely to happen when seizures start before age 2 and are resistant to treatment. In many people with SWS, symptoms get worse over time. 

Who is most likely to get Sturge-Weber syndrome?

A genetic variant (change) in the GNAQ gene most often causes SWS. The GNAQ gene provides instructions for making a protein that helps regulate the development and function of blood vessels. A change in the gene can disrupt this process and cause blood vessels to not form properly. 

SWS isn’t inherited. It happens randomly (sporadically). The genetic variant that causes the condition presents as somatic mosaicism, which means some of a person's cells have the variant while others don't. So, some blood vessels form as expected while others don’t.

How is Sturge-Weber syndrome diagnosed and treated?

Diagnosing SWS

Diagnosis of SWS usually starts with a physical exam. At least two of the following three symptoms need to be present to make a diagnosis: 

• A port-wine stain birthmark
• Abnormal blood vessels in the eyes
• Abnormal blood vessels in the brain

The doctor will review any symptoms and assess the appearance of the port-wine stain birthmark. If the doctor suspects SWS, they will use imaging tests, such as an MRI (magnetic resonance imaging) or CT (computed tomography) scan, which provide detailed images of the brain. They will also order an eye test to check for glaucoma or other eye conditions.

Learn more about neurological diagnostic tests and procedures.

Treating SWS

There’s no standard treatment for SWS, but medicines are available to help manage seizures and headaches. When possible, brain surgery to remove abnormal brain tissue that is causing the seizures can be effective. Laser treatment may lighten or remove the birthmark. 

Physical therapy may help with muscle weakness. Educational therapy may help those with intellectual or developmental delays. People with Sturge-Weber syndrome should be monitored yearly for glaucoma.

What are the latest updates on cerebral Sturge-Weber syndrome?

NINDS, a part of the National Institutes of Health (NIH), is the leading federal funder of research on the brain and nervous system, including disorders such as SWS. NINDS supports new and innovative research to better understand, diagnose, and treat SWS. 

NINDS-supported researchers are testing a new kind of MRI (without contrast or injection of a dye) to detect brain vessel problems in children with SWS. This innovative approach will help scientists better understand the progression of SWS and may lead to new diagnostic and treatment options.

In another study funded by NINDS, scientists are identifying SWS biomarkers (biological signs of disease that can be measured) and developing therapeutic strategies for the condition.

Other NIH-supported scientists are trying to determine the origin of the SWS genetic variant that happens during fetal growth. They hope to use this information to create an animal model to test new treatments for the condition. 

In another NIH-funded study, researchers are evaluating an anti-epilepsy drug, levetiracetam, with and without low-dose aspirin, for treating SWS before symptoms begin. The scientists hope that by starting treatment before children have seizures, ideally before 2 years of age, they can delay or avoid seizure symptoms and improve cognitive outcomes. 

The Brain Vascular Malformation Consortium (BVMC), part of NIH’s Rare Diseases Clinical Research Network, conducts clinical research on brain vascular malformations, including those seen in SWS. BVMC consists of academic medical centers, patient support groups, and clinical research resources. It’s currently establishing a large group of people with brain vascular malformations who will be followed over time. During this time, BVMC scientists will collect clinical, imaging, biomarker, and laboratory data—as well as biological specimens for future clinical research. 

For more information on research about SWS, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects. 

For research articles and summaries on SWS, search PubMed, which contains citations from medical journals and other sites.

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 SWS and related disorders. Clinical research with human study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities. This helps make sure 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 the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with SWS at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.