What Is Sturge-Weber Syndrome?
Sturge-Weber syndrome is a problem with the way blood vessels grow in the skin, eyes, and brain. Blood vessels grow too much and form growths called angiomas:
- An angioma (an-jee-OH-muh) in the skin is a birthmark called a port-wine stain. Babies with Sturge-Weber are born with port-wine birthmarks on their face or scalp.
- Angiomas that form in the brain can affect the blood flow to that area. In some children, this can lead to eye problems, seizures, or developmental disabilities.
When a baby is born with a port-wine birthmark on the face, doctors will look for other signs to tell whether the baby has Sturge-Weber. Finding out early helps babies with the condition get the treatment and support they need.
What Are the Signs & Symptoms of Sturge-Weber Syndrome?
The first sign that a baby might have Sturge-Weber is a birthmark on the face. The birthmark is called a port-wine stain because of its dark red color. Having a port-wine stain doesn’t always mean a baby has Sturge-Weber. Most babies born with a port-wine stain on their face do not have Sturge-Weber.
Other signs that a baby has Sturge-Weber are:
- using mostly one hand for activities, like grasping
- looking mostly in only one direction
How Is Sturge-Weber Syndrome Diagnosed?
When there are signs a baby may have Sturge-Weber syndrome, the doctor will do an exam and ask about symptoms. Doctors often do some of these tests:
- electroencephalography (EEG)
- genetic testing
- an eye exam, usually done by an
- magnetic resonance imaging (MRI) scans
How Is Sturge-Weber Syndrome Treated?
Babies born with Sturge-Weber will have it all their lives. They will need to see doctors who can watch for and treat any problems, such as migraine headaches.
Treatment depends on what problems a child has because of Sturge-Weber.
Port-Wine Stain Birthmarks
With Sturge-Weber, the port-wine birthmark is usually on the face, eyelid, scalp, or forehead. It may grow thicker and darker with time. Doctors can give babies laser treatments to help fade port-wine stains. Laser treatments work better in very young children than in older children, but they may not completely get rid of a port-wine stain.
Glaucoma and Other Eye Problems
Babies with a port-wine birthmark on the eyelid should see an eye doctor in the first few weeks of life.
Sometimes a port-wine birthmark on the eyelids creates pressure inside the eye. This is called glaucoma. If it’s not treated, it can lead to loss of vision. Eye doctors use medicines, lasers, and other treatments to reduce the pressure.
A birthmark on the eyelid also may block a baby’s vision or eye movement. Children with Sturge-Weber syndrome should have regular eye exams throughout life. Finding eye problems early helps protect a child’s vision.
Many children with Sturge-Weber syndrome have seizures. These happen because of blood vessel problems in the brain.
Doctors usually treat seizures with medicines. If medicines don’t help, some children have surgery to help stop seizures.
Some children with Sturge-Weber have learning problems or developmental delays. This happens when kids have angiomas in parts of the brain that affect learning.
Kids with Sturge-Weber should have regular checkups to make sure they are learning, talking, and playing in ways that are right for their age. Finding problems early helps kids gain skills and do well. Some children may need speech-language therapy or education therapy. Many get an individualized education program (IEP) in public schools, free of charge.
What Causes Sturge-Weber Syndrome?
Babies are born with Sturge-Weber because a gene, called GNAQ, changes during pregnancy. This gene helps control the way blood vessels form. Experts don’t know why the GNAQ gene changes. It is random and happens early in pregnancy. There’s nothing parents can do to prevent it, and nothing they did caused it.
How Can Parents Help?
If your child has Sturge-Weber syndrome, the ways you can help will change as your child grows.
When your child is still a baby:
Learn about Sturge-Weber. Talk to your child’s doctor about how it might affect your child. Find out about treatments that can help.
Get the right care for your baby. Take your baby to see the specialists your doctor suggests. Make sure you don’t miss any regular checkups. Get treatments that can help.
Get support. When your child is diagnosed with a medical problem, it takes time to adjust. Reach out to family and friends you feel close to. Share your feelings when you want to. Get support from your child’s care team too. Talk with other parents of kids with Sturge-Weber.
Talk about it. It’s OK to talk about your child’s birthmark. When people ask, give a simple answer that’s friendly, honest, and brief. "It’s a birthmark. She was born with it. Just like her curly hair, cute smile, and brown eyes."
Enjoy watching your baby learn and grow. Make plenty of time to play, cuddle, talk, and sing to your baby. Enjoy the special bond you share.
As kids grow:
Help them see the birthmark as a natural part of their looks. It’s OK to talk about it with your child too. When your child asks, you can say, "You were born with it — it’s called a birthmark." Be open and honest.
Show love and acceptance. Having Sturge-Weber doesn’t mean your child will have a poor self-image or be bothered by how they look. But if there are times your child says he doesn’t like his birthmark, be a patient listener. Show you understand and care. Let your child know how much you love every part of them.
When you show plenty of love and accept your child, you help your child learn self-acceptance. When a child needs extra support, talking with a therapist or meeting other kids who have Sturge-Weber can help too.