Sturge-Weber syndrome is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries. Problems in the capillaries cause the port-wine stains to form.
Sturge-Weber is not thought to be passed down (inherited) through families.
Symptoms of Sturge-Weber syndrome include:
Exams and Tests
Glaucoma may be one sign of the condition.
Tests may include:
Treatment is based on the person'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
Sturge-Weber syndrome is usually not life threatening. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated.
The person will need to visit an eye doctor (ophthalmologist) at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
These complications can occur:
- 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
When to Contact a Medical Professional
The health care provider should check all birthmarks, including a port-wine stain. Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.
There is no known prevention.
Sahin M. Sturge-Weber syndrome. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.