Sturge-Weber Syndrome Clinic | Frequently Asked Questions

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Contact the Sturge-Weber Syndrome Clinic

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This discussion gives more information about Sturge-Weber syndrome and how we care for children at our Sturge-Weber Syndrome Clinic at Boston Children’s Hospital. 

What is Sturge-Weber syndrome?

It’s a congenital disorder characterized by vascular birthmarks and neurological abnormalities. The classic symptom of the disease is a port wine stain on the face, typically near or around the eye and forehead, which can vary in color from red to dark purple.

In many children, malformations of blood vessels (“vascular anomalies”) develop on the surface of the brain; these can lead to seizures and hemiparesis (weakness or paralysis on one side of the body) on the side of the body opposite to the port wine stain. Children may also have glaucoma. Some children have developmental delays.

Although rare, it’s possible for your child to have Sturge-Weber syndrome even if he doesn’t have a facial port wine stain. It’s also important to note that if your child does have a facial port wine stain, it doesn’t necessarily mean he will have neurological abnormalities. In fact, only 8 percent of children with a facial port wine stain have neurological problems.

What causes Sturge-Weber syndrome?

The cause is unknown. It’s not thought to be inherited and is instead considered to be sporadic (it occurs only in the affected child). Researchers believe that the birthmarks are caused by a mutation in an unknown gene or genes.

When should a child be referred to a specialist?

We recommend that you see a neurologist if your child has a port wine stain along with signs of neurological abnormalities or developmental delay. We also recommend that you see us if your child has a port wine stain on both sides of her face, extensive port wine stain or involvement of the eyelids, even if she doesn’t have any neurological signs.

How is Sturge-Weber syndrome diagnosed?

An MRI with contrast is the best diagnostic test; it can show the abnormal blood vessels in the brain.

This, along with the physical appearance of the birthmark, is usually sufficient to make a diagnosis. CT scans may also help. Sometimes the tissue around those blood vessels becomes calcified, and the calcifications can be seen by CT.

How is it treated?

Sturge-Weber is a lifelong condition that cannot be cured. However, early diagnosis and treatment by a team of specialists can limit and prevent complications and improve your child’s quality of life. Our clinic includes specialists in Neurology, Neurosurgery, Neuropsychology, Ophthalmology, Dermatology and Vascular Anomalies, and your child may meet with one or more of these specialists.

Managing seizures and stroke-like episodes

Seizures are commonly seen in children with Sturge-Weber syndrome: 75 to 90 percent of affected children have seizures at some time. Seizures often start before a child is 1 and may become more frequent or severe as she gets older, especially if they aren’t treated. We often prescribe anti-seizure medications to try to prevent the seizures. In severe cases, we may consider surgical treatment.

Children who have Sturge-Weber may also have stroke-like episodes, such as episodes of transient weakness. We may use aspirin to control those episodes.

Correcting eye problems

About one-third of children with Sturge-Weber syndrome have congenital glaucoma on the side with the port wine stain. Glaucoma may be present at birth or develop later. Typically the eye with glaucoma appears enlarged. Treatment for glaucoma may include medications to decrease the amount of fluid in the eye or to help drain fluid from the eye. Surgery to improve fluid flow is considered in more serious cases.

If your child has Sturge-Weber, then even if he doesn’t have glaucoma, he should be followed regularly to check for glaucomaand also amblyopia.

Treatments to lighten the birthmark

Port wine stains are caused by dilated blood vessels in the skin. To lighten the stains, we commonly use pulsed dye laser.It’s a device that is “tuned” to a specific wavelength of light and produces a bright light that is absorbed by blood in the vessels. The abnormal blood vessels shrink without damaging the surrounding skin. Many treatment sessions are often needed.

Plastic surgery

Sturge-Weber is often associated with overgrowth of facial bones and overlying soft tissues. Usually these changes are not obvious until adolescence or early adulthood. At any age, tiny outgrowths of blood vessels and fibrous tissue can appear on the stained facial skin; these lesions often bleed. We can easily remove them.

Stains on the face can be associated with enlargement of the lip. This can be improved in simple outpatient surgeries. And when there is bony overgrowth in the cheek, we use surgery on the cheek and jaw bones to correct it, because that can cause fullness and a slight tilting of the teeth in the upper jaw.

What kind of cognitive delays might a child with Sturge-Weber have?

Brain tissue surrounding vascular anomalies may become irritated or not develop typically. In addition, seizures and stroke-like episodes are common. Because of these factors, children with this condition are at risk for a variety of cognitive problems.

There isn’t a typical cognitive profile of children with Sturge-Weber. The degree of a child’s neurodevelopmental problem is influenced by factors such as the location and degree of vascular malformations in the brain, the age when his seizures start, how well the seizures are controlled and his history of stroke-like episodes.

We usually recommend that children with Sturge-Weber undergo neuropsychological testing. We assess a broad range of cognitive functions, as well as behavioral, social and emotional adjustment, and we make appropriate recommendations to support his progress cognitively, socially and emotionally.

Will my child need to see other specialists?

Your child may also see other Boston Children’s specialists, including physical therapy for muscle weakness and behavioral and educational therapy for children with developmental delays.

We also work closely with your child’s pediatrician to ensure that each patient gets individually tailored care that meets all of her needs.

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- Sandra L. Fenwick, President and CEO

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