Sturge-Weber syndrome: MedlinePlus Medical Encyclopedia

P 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.

T Causes
P 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.
P Sturge-Weber is not thought to be passed down (inherited) through families.

T Symptoms
P Symptoms of Sturge-Weber syndrome include:
- Port-wine stain (more common on the face than the rest of the body)
- Seizures
- Paralysis or weakness on one side
- Learning disabilities
- Glaucoma (very high fluid pressure in the eye)

T Exams and Tests
P Glaucoma may be one sign of the condition.
P Tests may include:
- CT scan
- MRI scan
- X-rays

T Treatment
P 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

T Outlook (Prognosis)
P 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.
P 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.

T Possible Complications
P 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
- Paralysis
- Seizures

T When to Contact a Medical Professional
P 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.

T Prevention
P There is no known prevention.

T Alternative Names
P Encephalotrigeminal angiomatosis

T Images
- Sturge-Weber syndrome - soles of feet
- Sturge-Weber syndrome - legs
- Circulatory system

T References
P 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.

T Review Date 10/27/2015
P Updated 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.

