Sturge-Weber Syndrome

Sturge-Weber syndrome happens because a gene, called GNAQ, changes early in pregnancy. Doctors do not know why this happens. It is not passed down (not inherited) from a child’s parents.

This syndrome has 3 main types:

• Type 1 is the most common. In type 1, the blood vessels grow in an atypical way on the face (capillary malformation) and brain. Type 1 can lead to seizures, delay a child’s development, cause learning disabilities and increase pressure in the eye (glaucoma).
• Type 2 rarely affects the brain. Children have a capillary malformation on their face at birth. They may also have glaucoma and headaches.
• Type 3 causes abnormal blood vessel growth on the surface of the brain. Unlike the other types, type 3 rarely causes a capillary malformation or glaucoma. Type 3 is often confused with other conditions.

• Our Vascular Anomalies team brings together experts with many different skills and experiences. Your child’s care team may include otolaryngologists, geneticists, neurosurgeons, interventional radiologists, plastic surgeons, general surgeons and experts in the eyes (ophthalmologists), skin (dermatologists) and lungs (pulmonologists). We call in other specialists as needed.
• Our physician-scientists help set national standards for the care of young people with vascular anomalies. We provide the most advanced treatments in our region.

• A correct diagnosis is the first step toward improving your child's condition. We have the expertise to accurately diagnose your child. If tests are needed to confirm it, we have a broad range of options, such as genetic testing and imaging studies. These tests help us work with you to decide the best treatment option for your child.
• Our physician-scientists have created a way to test patients’ tissue and body fluids for the genetic changes known to cause vascular anomaly syndromes. The test is called a gene panel. We can test DNA in tissue sent to us from doctors across the nation. No other children’s hospital has a gene panel certified for clinical use with vascular malformations. This certification means doctors can make treatment decisions based on the results.
• The gene panel helps us identify the abnormal gene causing your child’s condition. A precise diagnosis may expand your child’s treatment options to include drugs that target the overactive biological pathway causing the malformation. These may be new targeted therapies or those already used to treat other diseases.
• Our genetic testing expertise helps us create new therapies that we offer in research studies called clinical trials.
• Learn more about vascular anomalies research at Seattle Children’s.

• For the best outcome, your child needs a team experienced in treating children with Sturge-Weber syndrome and the health problems it may cause. Our experience helps us know what to watch for and how to prevent and treat problems early. Close collaboration among our specialists is a great strength of Seattle Children's.
• Many children with this syndrome have repeated seizures, which is called epilepsy. Seattle Children's Epilepsy Program is the only program in the Northwest for children that is accredited level 4 by the National Association of Epilepsy Centers (NAEC). This means we use the most advanced technology to assess patients and can perform complex brain surgeries. Our treatment options for children with frequent seizures also include medicines, special diets, implanted nerve stimulators, physical therapy, occupational therapy and speech therapy.
• Sturge-Weber syndrome may harm a child’s vision. Our eye doctors are skilled at screening babies, children and teens. We offer many medical and surgical treatment options.
• Bleeding in the brain or another organ can be life threatening. Our Emergency Department provides care 24 hours a day, 7 days a week, for babies, children and teens who need it. We are the only hospital in the region with round-the-clock, on-site coverage by a pediatric neurosurgeon. We have a Pediatric Intensive Care Unit (ICU) and Level IV Neonatal ICU. 
• Besides meeting your child’s critical care needs, the team at Seattle Children’s plans and provides ongoing care so your child has the best possible outcome. We assess all your child’s health needs and work with you to create a care plan that fits your child and family. We take care of your child over the long term.

• We schedule visits so your child sees all the specialists they need in as few days as possible. In some cases, we can consult via video phone calls with doctors or patients.
• Your child’s team will work together – and with you – to make a treatment plan that fits your child’s unique needs. Combining our skills helps make sure your child gets the very best care.
• As long as needed, our team keeps a watch on your child’s condition. We are always here to answer your questions and connect you to community resources.

• Children do not react to illness, injury, pain and medicine in the same way as adults. They need – and deserve – care designed just for them. Our experts focus on how treatments today affect growing bodies in the future. We provide the best and safest treatment for your child, based on our years of experience and the newest research.
• At Seattle Children's, we work with children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

We check your child at regular visits in order to monitor and manage their symptoms.  

Each year we will test your child for glaucoma. We also check if they are learning, talking and playing in ways that are right for their age.

We recommend treatment as needed for problems affecting your child’s eyes, brain or skin.

To lighten or remove a capillary malformation, your child’s doctor may recommend laser therapy. This uses light energy to quickly destroy the extra blood vessels. The most common laser used for capillary malformations is the pulse dye laser.

Most patients say the laser feels like a brief sting (like an elastic band snapping against the skin). Before treatment, we use a cream to numb your child’s skin.

Outpatient laser surgery is done at our Seattle hospital campus, Bellevue Clinic and Surgery Center and North Clinic in Everett.

Most children need several treatments. If the skin becomes thickened and bumpy (nodular), surgery or a different type of laser may improve the appearance.

Controlling seizures is very important. Frequent seizures can harm your child’s development and learning. There are many effective treatments to prevent or reduce seizures. Our neurosciences team partners with you and your child to find what works best.

For most children with seizures, the first and most effective treatment is medicine called anticonvulsants. There are many choices. The goal is to prevent seizures without causing major side effects. Our neurosciences team has access to many medicines, including new options offered in research studies (clinical trials).

If medicines do not help, other options include special diets, implanted nerve stimulators, brain surgery, physical therapy, occupational therapy and speech therapy.

Read about our treatment options for seizures.

Glaucoma causes fluid pressure to build up inside the eye. This can damage the nerve that carries information from the eye to the brain (optic nerve). We check your child each year. Glaucoma can harm your child’s vision if it is not found and treated early.

Treatment options include:

• Medicines given as eye drops or taken by mouth
• Surgery, if glaucoma is severe

Some children with Sturge-Weber syndrome have muscle weakness or cannot use one side of their body (paralysis).

Our physical therapists (PTs) use exercise and play to help your child build strength, balance and coordination. Our skills and specially sized equipment help us work with patients from the very smallest babies to young adults.

Occupational therapists (OTs) help children learn how to do the tasks of daily life, when a health problem affects abilities like eating. Seattle Children’s has the largest group of OTs in the Pacific Northwest focused on working with babies, children and teens.

Read more about our physical therapy and occupational therapy services.

If your child often has migraines or other severe headaches, we may recommend medicine to prevent them or ease the pain. Some children are helped by changes in diet or biofeedback. 

Sturge-Weber syndrome sometimes causes developmental delays or neurologic deficits, which vary greatly from child to child.

We carefully assess your child’s development and work with you to create a care plan that fits your child and family. If we find problems, we recommend treatments and support services to help your child reach their full potential.

Your child may benefit from:

• Rehabilitation medicine
• Physical therapy
• Occupational therapy
• Speech therapy
• Rehabilitation psychology
• Neurodevelopmental care
• Neuropsychology

We also work with you to find resources in your community.