What is Sturge-Weber syndrome? What does it look like?
Sturge-Weber syndrome (SWS) is a rare disorder that can affect a child’s skin, eyes and nervous system. It is present at birth (congenital).
The most obvious sign of SWS is usually a birthmark or port wine stain on the face or head. This happens when small blood vessels under the skin keep expanding, allowing a greater amount of blood to flow into them. This causes a stain to form.
Almost all children with SWS have a port wine stain.
What causes SWS and who gets it?
SWS is caused by a gene acting abnormally. SWS is rare, but doctors don’t know how many people it affects. It does not run in families (inherited).
What are the different types of SWS?
There are 3 main types of SWS:
- Type 1 is the most common. In type 1, the blood vessels grow in an unusual way (vascular malformation) on the face and brain. Type 1 can lead to seizures. The seizures usually happen before a child’s first birthday and can continue throughout their life. Type 1 can delay a child’s development and cause learning disabilities and glaucoma. Glaucoma is a condition that increases pressure inside the eye.
- Type 2 involves a port wine stain on the face. This type of SWS doesn’t usually affect the brain. It can lead to glaucoma, differences in blood flow and headaches. These symptoms can last into adulthood.
- Type 3 often involves unusual blood vessel growth on the brain. Type 3 SWS has no port wine stain and usually no glaucoma. Diagnosing type 3 can be difficult, and it is often confused with other conditions. Doctors use brain scans to identify and diagnose this type.
How will SWS affect my child?
SWS can cause many eye and internal organ problems:
- Blood vessel growth on the brain can cause brain-related (neurological) problems in types 1 and 3.
- Seizures are the most common early symptom, often starting by age 1.
- Weakness or loss of the use of one side of the body.
- Developmental delays.
- Increased pressure within the eye (glaucoma) can be present at birth or develop later. About 70% of people with SWS develop glaucoma, but usually only in 1 eye.
- About 40% of people with SWS have choroidal lesion s (looks like a freckle on the eye). These happen when an unusual group of blood vessels grows inside the eye.
How will Seattle Children’s diagnose SWS?
SWS is diagnosed based on your child’s symptoms at birth or early infancy. Brain imaging tests can confirm what type of SWS your child has.
An MRI (magnetic resonance imaging) scan of the brain can find differences in your child’s brain and confirm the diagnosis, even in very young children.
How will Seattle Children’s treat SWS?
SWS treatment depends on your child’s symptoms and can include:
- Yearly test for glaucoma
- Laser treatment to lighten or remove a port wine stain
- Medicines to control seizures
- Surgery to correct serious cases of glaucoma
- Physical therapy to help with muscle weakness
- Treatment to help with developmental delays or learning problems
Why choose Seattle Children’s Vascular Anomalies Program?
Seattle Children’s Vascular Anomalies Program is nationally recognized. It is 1 of only 2 vascular anomalies programs on the West Coast. Doctors from across the United States send children here for treatment because of our specialized expertise. We see more children with vascular anomalies than any other hospital in the Pacific Northwest.
Our Vascular Anomalies team brings together experts, including otolaryngologists, dermatologists, plastic surgeons, ophthalmologists, geneticists and interventional radiologists. These doctors work together to develop a treatment plan that fits your child’s needs. We schedule your visit so your child sees all the specialists they need on the same day in the same location.
We follow your child throughout their life. Our Vascular Anomalies team is available to help you and answer questions.
We participate in many clinical trials and studies of new treatments that might be more effective than standard therapy. This means some of our patients get the newest treatments before they are widely available. Learn more about our research.