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.
The cause of Sturge-Weber is unknown. It is not thought to be passed down (inherited) through families.
- Port-wine stain (more common on the face than the body)
- Paralysis or weakness on one side
- Learning disabilities
Exams and Tests
Glaucoma may be one sign of the condition.
Tests may include:
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
Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.
Patients will need to visit an 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.
- 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. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 589.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, 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.
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