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. At Children’s Health℠, our treatment includes education and support for the whole family. Your child has access to top pediatric neurology experts to guide treatment options if this is part of your child’s Sturge-Weber syndrome.
What is 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. Another name for Sturge-Weber syndrome is encephalotrigeminal angiomatosis.
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.
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.
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 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
Weakness on one side of the body
How is 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 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 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 (PT) 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
Sturge-Weber syndrome doctors and providers
Alex Kane, MDPlastic and Craniofacial Surgeon
Michael Dowling, MDPediatric Neurologist
Rana Said, MDPediatric Neurologist
James Seaward, MDPlastic and Craniofacial Surgeon
Deepa Sirsi, MDPediatric Neurologist