Sturge Weber Syndrome

Sturge Weber Syndrome

Sturge Weber Syndrome is also known as encephalotrigeminal angiomatosis. It is a condition that a child is born with (congenital). Sturge Weber syndrome affects the way your child’s blood vessels develop. The condition can affect:

• The skin. A birthmark, called a port-wine stain, may develop due to blood vessels close to the surface of the skin.
• The eyes. Glaucoma may develop from too much pressure in your child’s eye.
• The brain. A collection of blood vessels in the brain can cause seizures and other developmental problems.

Sturge Weber syndrome, also known as encephalotrigeminal angiomatosis , includes venous angiomatous malformations within the leptomeninges and choroid plexus with an associated port-wine stain in the distribution of a branch of the trigeminal nerve on the side of the hemispheric involvement.

On cross sectional imaging, there is a focal region of leptomeningeal enhancement, often overlying a region of cortical atrophy. There is usually also abnormal enhancement in the enlarged ipsilateral choroid plexus.

Computed tomography (CT) examination also detects “tram-track” subcortical calcifications and ipsilateral hemispheric volume loss, which are not seen in infancy, because they take some time to occur. Rarely, this entity may occur bilaterally.

The symptoms of Sturge Weber syndrome are different for each child.

What are the causes?

The condition is caused by a change (mutation) in one of your child’s genes during development. The cause of the mutation is not known. It is not passed from parent to child (inherited).

What are the symptoms of Sturge Weber syndrome?

The most visible symptom is being born with a birthmark on the face that can range from dark purple to light pink in color. This birthmark is known as a port-wine stain. Not all children with Sturge–Weber syndrome are born with this birthmark.

Other symptoms may include:

• Headache.
• Vision problems.
• Seizures.
• Developmental delays.
• Muscle weakness.
• Learning disabilities.

How is this diagnosed?

Sturge Weber syndrome may be diagnosed based on:

• Your child’s medical history.
• A physical exam.
• An eye exam by an eye specialist (ophthalmologist).
• Imaging of the brain using X-rays, CT scans, and MRIs.
• Electroencephalogram (EEG). This records the electrical activity in your child’s brain.
• Developmental testing. These tests evaluate how your child, moves, plays, and talks.

How is Sturge Weber syndrome treated?

There is no cure for Sturge Weber syndrome, but treatment can help relieve symptoms. Treatment may include:

• Medicines to control seizures.
• Medicines for glaucoma.
• Physical therapy for muscle weakness.
• Surgery, if medicines for seizures and glaucoma do not work.
• Educational support for developmental delays or learning disabilities.
• Mental health counseling to help with any emotional or behavioral symptoms.
• Laser treatment to help remove or lighten the port-wine stain.

Follow these instructions at home:

• Give over-the-counter and prescription medicines only as told by your child’s health care provider.
  • If your child was given eye drops, use them exactly as instructed.
• Keep all follow-up visits as told by your child’s health care providers. This is important.
• Work closely with your child’s teachers and school system.
• Consider joining a support group. Connecting with other parents of children with the condition can be helpful.

Contact a health care provider if:

• Your child’s seizures change or become more frequent.
• Your child’s vision changes.
• Your child has muscle weakness or tightness.
• Your child has new symptoms.
• Your child’s symptoms get worse.

Get help right away if your child:

• Has two seizures in a row without time between them to fully recover.
• Has a seizure and does not wake up, or is confused afterward.
• Develops a severe headache, a stiff neck, or an unusual rash.
• Injures himself or herself during a seizure.
• Has severe pain in his or her eye.
• Has a severe headache.
• Feels nauseous or throws up.

Summary

• Sturge Weber syndrome affects the way your child’s blood vessels develop.
• The most visible symptom is being born with a birthmark on the face that can range from dark purple to light pink in color.
• There is no cure for this condition, but treatment can relieve symptoms. Treatment includes medicines, counseling, and physical therapy.