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Pediatric Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare, congenital condition that causes a port-wine stain on the face, as well as brain or eye abnormalities.

What is Pediatric Sturge-Weber Syndrome?

A rare condition, Sturge-Weber syndrome occurs in one out of every 20,000 to 50,000 live births, according to the National Organization for Rare Disorders. Sturge-Weber syndrome is a congenital (present at birth) neurological disorder that causes a distinctive port-wine stain on the forehead, scalp or around the eye.

The stain associated with this condition is a birthmark caused by a mass of capillaries (tiny blood vessels) on the brain and near the surface of the skin. Larger blood vessels on that same side of the face may also be affected. Another name for Sturge-Weber syndrome is encephalotrigeminal angiomatosis.

Because there of the excessive blood vessels on the surface of the brain, children with Sturge-Weber Syndrome often experience seizures, which may be difficult to control with medication.

At Children’s Health, our treatment includes education and support for the whole family. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:

  • Provide seizure safety education programs
  • Expedite appointments in order to get your child evaluated quickly

What are the signs and symptoms of Pediatric Sturge-Weber Syndrome?

The main symptom of Sturge-Weber syndrome is the port-wine stain on the face, which all children with the condition have. Although this type of birthmark generally covers one side of the face, it can also form on the neck, as well as on other parts of the body. It begins as a pink mark at birth, but thickens and darkens with age.

Other possible symptoms include:

  • Cognitive (thinking) impairment
  • Developmental delays
  • Glaucoma
  • Paralysis
  • Seizures
  • Weakness on one side of the body

How is Pediatric Sturge-Weber Syndrome diagnosed?

A detailed physical exam may be sufficient to diagnosis Sturge-Weber Syndrome.  If Sturge-Weber syndrome is suspected, your physician may order additional tests that include a magnetic resonance imaging (MRI) to obtain detailed images of the brain. A neurologist may recommend additional testing to help decide the best type of seizure therapy.  You may be referred to an ophthalmologist for tests to make sure your child’s vision is not affected.   

 

What are the causes of Pediatric Sturge-Weber Syndrome?

Sturge-Weber Syndrome is Caused by a mutation in the GNAQ gene. Sturge-Weber Syndrome is not inherited. The mutation occurs after conception, during early fetal development.

How is Pediatric Sturge-Weber Syndrome treated?

Treatment for children with Sturge-Weber Syndrome is aimed at treating the symptoms.   Treatment is highly individualized and may include treatment for the port-wine stain with pulse-dye laser therapy.   Your physician may consult a physical therapist to help with developmental delays.   You also may be referred to an eye doctor for a more focused eye exam and provided treatments such eye drops or surgery. 

Seizure control may include: 

  • Anti-epileptic drugs (AEDs)
  • A ketogenic diet, which includes a regimen of high-fat, low-carbohydrate foods
  • Epilepsy Surgery

Pediatric Sturge-Weber Syndrome Doctors and Providers

Frequently Asked Questions

  • Is Sturge-Weber syndrome a disability?

    Sturge-Weber syndrome is associated with blood vessel abnormalities that may lead to changes in the skin, eye, and brain.   A diagnosis of Sturge-Weber does not mean your child will have all the attributes of the syndrome and they should not be assumed to have a disability.

  • Is Sturge-Weber syndrome progressive?

    The symptoms associated with Sturge-Weber may change and progress as your child grows.  For example, the port-wine stain may become darker with age.  Eye changes may progress and should be monitored by an ophthalmologist.  

  • How rare is Sturge-Weber?

    Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 individuals.

  • Does Sturge-Weber cause seizures?

    Sturge-Weber may be associated seizures due to a blood vessel abnormality between the brain and spinal cord called a leptomeningeal angioma. This change in blood-flow that can cause stroke-like symptoms, including temporary muscle weakness on one side of the body (hemiparesis), vision abnormalities, seizures, and migraine headaches.  Your child has access to top pediatric neurology experts to guide treatment options if this is part of your child’s Sturge-Weber syndrome.  

  • Is Sturge-Weber hereditary?

    Even though Sturge-Weber symptoms are present at birth, the syndrome is not inherited. The genetic mutation is thought to occur in a cell during early development before birth. As that cell grows at divides, it carries the mutation to the brain, eyes, and skin.   Your child will have access to Genetics experts at Children’s Health who can provide you more insights to the genetic makeup and progression of Sturge-Weber.

  • Can you get rid of port wine stains?

    After several years of exploring treatment options, the current treatment of choice is pulse-dye laser therapy in attempt to color-match the surrounding skin The average patient can expect an 80% fade of the lesion after 6 to 8 treatments. There are a few patients who are yellow-light resistant and will not fade. The best response to laser therapy generally occurs on the face and neck.

  • Are port wine stains hereditary?

    Although a port wine stain is present at birth, it is not a hereditary condition.