Sturge-Weber Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Sturge-Weber Syndrome?
A neurologist, a doctor who treats brain and nerve problems, usually treats the seizures and other nervous system symptoms of Sturge-Weber Syndrome. An ophthalmologist, an eye doctor, checks for and treats glaucoma, an eye problem linked to this condition. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Sturge-Weber syndrome?
Sturge-Weber syndrome (SWS) is a rare condition that is present at birth. It is also called encephalotrigeminal angiomatosis. In SWS, the small blood vessels, called capillaries, in the brain, eyes, and skin do not develop as they should. Blood pools in these vessels, and nearby tissues get less oxygen.
SWS is usually not life threatening. It does need regular lifelong follow-up.
Symptoms
Most children with SWS have a port-wine stain birthmark.
- A port-wine stain, a birthmark that is usually on one side of the face around the eye or forehead.
- Seizures, which usually begin in infancy and may get worse with age.
- Glaucoma, which is increased pressure within the eye. It can cause blindness if it is not treated.
- Developmental delays and cognitive impairment, which means trouble with thinking and learning.
- Headaches, including migraines.
- Stroke-like episodes that can cause weakness on one side of the body or affect memory and thinking.
- Paralysis or weakness on one side of the body.
- Low thyroid function, called hypothyroidism.
The birthmark can range in color from light pink to deep purple. In many people with SWS, symptoms get worse over time. Intellectual impairment is more likely when seizures start before age 2 and are resistant to treatment. The port-wine stain can keep growing, and emotional and behavioral problems can also happen.
Causes and who gets it
In many people, SWS is caused by a change in the GNAQ gene. This gene gives the body instructions for making a protein that helps control how blood vessels form and work. The change is found in some of a person's cells but not in others.
SWS is not thought to be passed down through families. It happens randomly. Doctors most often diagnose SWS in infants, and sometimes in older children or, rarely, adults.
How doctors diagnose it
Diagnosis usually starts with a physical exam. Doctors look for at least two of these three signs.
- A port-wine stain birthmark.
- Abnormal blood vessels in the eyes.
- Abnormal blood vessels in the brain.
If the doctor suspects SWS, they will use imaging tests, such as an MRI or CT scan, which give detailed pictures of the brain. They will also order an eye test to check for glaucoma or other eye conditions. A health care provider should check all birthmarks, including any port-wine stain.
Treatment
The National Institute of Neurological Disorders and Stroke (NINDS) says there is no standard treatment for SWS. Treatment is based on the person's signs and symptoms and may include the following.
- Anticonvulsant medicines, which help control seizures.
- Medicines to help manage headaches.
- Brain surgery to remove abnormal brain tissue that is causing the seizures, when possible.
- Eye drops or surgery to treat glaucoma.
- Laser treatment, which may lighten or remove the birthmark.
- Physical therapy to help with muscle weakness.
- Educational therapy for people with intellectual or developmental delays.
People with SWS should be checked for glaucoma every year.
When to see a doctor
Seizures, vision problems, paralysis, and changes in alertness or mental state should be evaluated right away. A person with SWS needs to see an eye doctor at least once a year to check for or treat glaucoma. A neurologist treats seizures and other nervous system symptoms.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care or concierge doctor can help keep track of the lifelong follow-up that SWS needs. They can also help coordinate visits with the neurologist and the eye doctor.
Common questions
Is Sturge-Weber syndrome inherited?
No, SWS is not thought to be passed down through families. It happens randomly.
Is Sturge-Weber syndrome life threatening?
It is usually not life threatening. It does need regular lifelong follow-up. Quality of life depends on how well symptoms such as seizures can be prevented or treated.
Can Sturge-Weber syndrome be prevented?
No, there is no known prevention.
Does Sturge-Weber syndrome cause seizures?
Yes, most infants with SWS develop seizures during their first year of life. Seizures usually begin in infancy and may get worse with age. Medicines are available to help manage seizures.
Can the port-wine stain birthmark be treated?
Yes, laser treatment may lighten or remove the birthmark.
Sources
- MedlinePlus - Sturge-Weber syndrome
- National Institute of Neurological Disorders and Stroke - Sturge-Weber Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
