Sturge-Weber Syndrome

What is Sturge-Weber syndrome?

Sturge-Weber syndrome is a genetic condition that affects the development of blood vessels in your child’s brain, skin and eyes.

An early sign of Sturge-Weber syndrome is a port wine stain. This is a smooth, flat birthmark. It’s pink to dark purple (or darker than your baby’s natural skin tone). It usually appears on one side of your baby’s face, on their forehead and eyelid.

While birthmarks are common, Sturge-Weber syndrome isn’t. Children may have a port wine stain birthmark and not have any additional symptoms of this genetic condition.

If your child is born with a port wine birthmark, their provider will look for other changes to the blood vessels in their brain shortly after birth. When there’s a blood vessel problem in the brain, it can affect blood flow and lead to seizures. Sturge-Weber syndrome isn’t life-threatening, but if untreated, it can affect your child’s quality of life.

What are the symptoms of Sturge-Weber syndrome?

The three main features of Sturge-Weber syndrome include:

• Port wine stain birthmark: This is a collection of blood vessels in your child’s skin. This patch of skin appears pink to purple or darker than their natural skin tone. It usually forms on your child’s forehead and eyelid. The skin on the birthmark may thicken and darken over time.
• Glaucoma: This is increased pressure in your child’s eye from fluid buildup. It can lead to vision loss.
• Leptomeningeal angiomas: These are abnormal blood vessels that form in brain and spinal cord tissue. They may affect blood flow to parts of your child’s brain. The areas of the brain affected by angiomas can cause seizures and one-sided muscle weakness (hemiparesis).

If your child has seizures, they may start within their first year, often before their second birthday. Usually, seizure symptoms only affect one side of their body. Their port wine stain may get darker during a seizure. This is normal.

Other signs and symptoms may include:

• Developmental delay.
• Hypothyroidism.
• Intellectual disability.
• Headaches or migraines.

Symptoms vary from person to person and not all symptoms affect each child.

What causes Sturge-Weber syndrome?

A genetic variant of the CNAQ gene causes Sturge-Weber syndrome. This gene provides instructions to regulate how blood vessels function and develop. When a change affects this gene, it doesn’t get the instructions it needs to do its job as expected, so blood vessels don’t form properly before birth.

Sturge-Weber syndrome inheritance

Sturge-Weber syndrome isn’t inherited. It happens randomly (sporadically). This means that anyone can be born with the condition.

The genetic change is somatic — it doesn’t affect the egg and sperm cells (sex cells). It occurs early in a developing embryo. Some cells will have the gene change, while others won’t (mosaicism). This means that some blood vessels form as expected while others don’t.

What are the complications of Sturge-Weber syndrome?

Leptomeningeal angiomas caused by Sturge-Weber syndrome may increase your risk of:

• Calcification (calcium deposits) near the angioma.
• Loss of brain tissue (atrophy).
• Paralysis.
• Stroke.

How is Sturge-Weber syndrome diagnosed?

A healthcare provider will make a Sturge-Weber syndrome diagnosis after your baby is born. You’ll be able to see the port wine birthmark on your baby’s skin. Their provider will look at it during their first physical exam, followed by a neurological exam and testing to look for blood vessel abnormalities that affect the eyes and brain. Tests may include:

• MRI.
• CT scan.
• Electroencephalogram (EEG).
• Eye exam.

How is Sturge-Weber syndrome treated?

Treatment for Sturge-Weber syndrome focuses on symptom management and may include

• Antiseizure medications or surgery for seizures.
• Medicated eyedrops or surgery for glaucoma.
• Laser skin resurfacing to reduce the appearance of the port wine birthmark.
• Physical therapy for muscle weakness.
• Special education courses for developmental delays or intellectual disabilities.

A healthcare provider may recommend adults with Sturge-Weber syndrome take a low-dose aspirin daily to reduce the risk of stroke and stroke-like symptoms. Children shouldn’t take aspirin unless recommended by their healthcare provider.

Treatment is different for each person. Your child’s provider will let you know what they recommend and tell you about the possible side effects of treatment so you can make an informed decision about your child’s health.

How can I prevent Sturge-Weber syndrome?

Sturge-Weber syndrome gene mutations occur sporadically (for no clear reason). There is no proven way to prevent Sturge-Weber syndrome.

What’s the outlook for Sturge-Weber syndrome?

Your child’s healthcare provider will give you the best information about their outlook. Specifically for Sturge-Weber syndrome, the extent of brain involvement may help your child’s provider determine their prognosis. For example, if your child has seizures that start before age 2, they’re more likely to have some developmental delays or intellectual disability. However, this isn’t the case with all children.

Your child will need to meet with their care team regularly for symptom management throughout life. They can expect to see a neurologist if they have seizures and an ophthalmologist for annual vision exams.

Sturge-Weber syndrome life expectancy

Sturge-Weber syndrome doesn’t usually affect a child’s life expectancy. But symptoms can affect your child’s quality of life, so they’ll need lifelong management and care from a healthcare provider. The condition ranges in severity, so your child’s provider can help you understand what you can expect and what you need to look out for.

Can you live a normal life with Sturge-Weber syndrome?

Yes, it’s possible to live a normal life with a condition like Sturge-Weber syndrome.

Birthmarks are very common, but highly visible ones across your face aren’t common. You may choose to undergo laser therapy to reduce the appearance of this birthmark to make you feel more comfortable.

There’s nothing wrong with the way you were born. Everyone has their own unique look. Many people undergo cosmetic procedures in an effort to make personal changes. This is understandable. Your choice to undergo a cosmetic procedure is a personal one. Someone else’s opinion of you shouldn’t influence this choice.

How can I support my child with Sturge-Weber syndrome?

One of the most important aspects of living well with Sturge-Weber syndrome is building a positive self-image. You can help your child feel better about the port wine birthmark by talking about it as a natural part of their appearance, just like their height or nose shape. There are things about our bodies that we can’t control, but we can learn to love what we have because they make us who we are.

If you or your child need support, reach out to your healthcare provider. They may recommend you speak with a mental health counselor or join a support group.

When should my child see a healthcare provider?

Let your child’s provider know if they miss developmental milestones for their age, like saying their first words or walking.

Some symptoms of Sturge-Weber syndrome can mimic a stroke, like one-sided muscle weakness. Don’t hesitate to contact your child’s provider or emergency services if you notice new or unusual symptoms that seem off from your child’s normal behavior.

Visit the emergency room if your child has a seizure for the first time.

What questions should I ask my child’s healthcare provider?

You may want to ask your child’s provider the following questions:

• What symptoms should I look out for?
• What type of treatment do you recommend?
• Are there side effects of treatment?
• What do I do if my child has a seizure?