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Sturge-Weber syndrome
Definition
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 neurologic problems.
Alternative Names
Encephalotrigeminal angiomatosis
Causes, incidence, and risk factors
The cause of Sturge-Weber is unknown. It is not thought to be passed down (inherited) through families.
Symptoms
- Port-wine stain (more common on the face than the body)
- Seizures
- Paralysis or weakness on one side
- Learning disabilities
Signs and tests
Glaucoma may be one sign of the condition.
Tests may include:
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
Expectations (prognosis)
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 neurologic symptoms.
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
Calling your health care provider
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.
Prevention
There is no known prevention.
References
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.
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