Encephalotrigeminal angiomatosis

Definition

Sturge-Weber syndrome is a rare disorder present at birth. It is characterized by a birthmark (usually on the face) known as a port-wine stain, and neurologic problems.

Alternative Names

Causes

The cause of Sturge-Weber is unknown. There is no known hereditary component.

Symptoms

• Port-wine stain (more common on the face than the body)
• Seizures
• Paralysis or weakness on one side
• Glaucoma
• Learning disabilities

Exams and Tests

X-rays, MRI, or CT scans are useful to look for associated problems.

Treatment

Treatment is based on the patient's signs and symptoms:

• Anticonvulsant medicine for seizures
• Physical therapy for paralysis or weakness
• Eye drops or surgery for glaucoma
• Laser therapy for port-wine stains

Support Groups

For information and support, see www.sturge-weber.com.

Outlook (Prognosis)

Most cases of Sturge-Weber are not life-threatening. The quality of life depends on how well the symptoms, such as seizures, can be addressed.

Possible Complications

• Glaucoma (increased intraocular pressure) with the possibility of blindness in the affected eye
• Seizures
• Continued growth of the port-wine stain
• Paralysis on one side
• Emotional and behavioral problems
• Developmental delays
• Abnormal blood vessel growth in the skull

When to Contact a Medical Professional

All birthmarks, including a port-wine stain, should be evaluated by the health care provider. Seizures, visual problems, paralysis, and change in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated promptly.

Prevention

There is no known prevention.

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