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Sturge-Weber syndrome

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.

Causes

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.

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

Symptoms

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)

Exams and Tests

Glaucoma may be one sign of the condition.

Tests may include:

Treatment

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

Outlook (Prognosis)

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.

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.

Possible Complications

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

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.

Alternative Names

Encephalotrigeminal angiomatosis

References

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.

Review Date 10/27/2015

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.

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