Sturge-Weber syndrome
Definition
Sturge-Weber syndrome is a rare disorder present at birth in which the child has a port-wine stain birthmark (usually on the face) and neurologic problems.
Alternative Names
Encephalotrigeminal angiomatosisCauses
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, and may include:
- Anticonvulsant medicines for seizures
- Eye drops or surgery to treat glaucoma
- Laser therapy for port-wine stains
- Physical therapy for paralysis or weakness
- Possible brain surgery to prevent seizures
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 prevented or treated.
Possible Complications
- Abnormal blood vessel growth in the skull
- Continued growth of the port-wine stain
- Developmental delays
- Emotional and behavioral problems
- Glaucoma, which may lead to blindness
- Paralysis
- Seizures
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.
Reviewed By: Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.
