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 nervous system problems.
The cause of Sturge-Weber is unknown. It is not thought to be passed down (inherited) through families.
Glaucoma may be one sign of the condition.
Tests may include:
Treatment is based on the patient's signs and symptoms, and may include:
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.
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.
Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 596.
Updated by: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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