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.
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
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
- Weakness on one side of the body
Tests and Diagnosis
To diagnose epilepsy, your physician will do a detailed physical exam of your child, ask you about your child’s past medical history and family history, and learn as much as possible from you about how a seizure started and what you observed.
If Sturge-Weber Syndrome is suspected, testing may be prescribed including X-rays, CT scans and magnetic imaging (MRI) to obtain detailed images of the brain. You may be referred to an ophthalmologist for tests to make sure your child’s vision is not affected.
Treatment for epilepsy in children with Sturge-Weber Syndrome is aimed at finding the best way to treat and control the seizures. Treatment is highly individualized and may include:
- Anti-epileptic drugs (AEDs)
- A ketogenic diet, which includes a regimen of high-fat, low-carbohydrate foods
- Epilepsy Surgery
- The Sturge Weber Foundation
- American Epilepsy Society
- Genetic and Rare Diseases (GARD) Information Center
What causes 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 does Sturge-Weber Syndrome relate to epilepsy?
Sturge-Weber Syndrome affects the way the brain develops, which can affect the nerve cells in the brain and cause seizures.
What is epilepsy?
Epilepsy is a condition that affects how the nerve cells in the brain communicate with each other. When the normal electrical activity in the brain interferes with this communication process, seizures can occur.
What are the symptoms of a seizure?
The epilepsy symptoms most people recognize are shaking (called convulsions) combined with the body getting rigid, clenching the jaw, and biting the tongue. These are called tonic-clonic seizures and many people still know them as grand mal seizures. But some seizures are barely noticeable. Children may stare into space, stop talking abruptly and then start talking again, or start repetitious movements like chewing their lips or moving a hand. These types of seizures are called absence seizures, which used to be known as petit mal seizures. Sometimes a child may experience smelling something that isn’t there, numbness or a tingling sensations before the seizure. These are called auras.
What should I do while my child is having a seizure?
If the seizure is small twitching or staring, they should come out of it easily. For convulsions, make sure your child is in a chair that they can’t fall out of or lying on the floor with a pillow under their head. Turn their head to the side, but NEVER try to put anything into their mouth. Do not shake or hit them or shout at them. If the seizure lasts for more than five minutes or seems violent, call 9-1-1.
After a seizure, your child may be confused, foggy or tired. If they want to lie down, let them.
What kind of tests are there for epilepsy?
Doctors first need to be sure that seizure aren’t due to something else before they diagnose epilepsy. Simple blood work and/or kidney tests might find that there is an infection causing seizures, and that might be cured easily. Otherwise there are a variety of brain-related tests, including an electroencephalogram (EEG), CT scan and MRI that can show the electrical activity in the brain that indicates epilepsy.
How is epilepsy treated?
There is no one specific treatment for any child with epilepsy. Each treatment plan is developed based on the child’s diagnosis and symptoms. For many children, medication can control seizures. Special diets can also help. If seizures happen so often that they reduce the child’s quality of life, surgery may be necessary. Surgery can include removing the section of brain where seizures originate or implanting a small device that regulates electronic brain activity.
What are the side effects of epilepsy treatment?
There can be side effects from treatment as well as from the disorder. Treatments can cause dizziness, fatigue and lead to balance problems. Seizure drugs can also cause bone density loss. Living with epilepsy can be stressful. A child may feel isolated, alone or depressed. Support groups and counseling can help.
Where can I find a support group?
Our Epilepsy Center will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about epilepsy and support groups.