Sturge-Weber syndrome
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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 nervous system problems.

Alternative Names

Encephalotrigeminal angiomatosis

Causes

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

Exams 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

Outlook (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 nervous system symptoms.

Possible 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

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.

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.


Review Date: 11/14/2011
Reviewed 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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