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Sturge-Weber syndrome
     
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Sturge-Weber syndrome

Encephalotrigeminal angiomatosis; SWS

 

Sturge-Weber syndrome (SWS) 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 in some but not all body cells. 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 SWS include:

  • Port-wine stain (more common on the upper face and eye-lid than the rest of the body)
  • Seizures
  • Headache
  • Paralysis or weakness on one side
  • Learning disabilities
  • Glaucoma (very high fluid pressure in the eye)
  • Low thyroid (hypothyroidism)

 

Exams and Tests

 

The health care provider should check all birthmarks, including a port-wine stain.

Glaucoma may be one sign of the condition.

Tests may include:

  • CT scan
  • MRI scan
  • X-rays

 

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

 

Support Groups

 

More information and support for people with SWS and their families can be found at:

 

Outlook (Prognosis)

 

SWS is usually not life threatening. The condition does need regular lifelong follow-up. 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

 

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

Dinulos JGH. Vascular tumors and malformations. In: Dinulos JGH, ed. Habif's Clinical Dermatology: A Color Guide to Diagnosis and Therapy. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 23.

Flemming KD, Brown RD. Epidemiology and natural history of intracranial vascular malformations. In: Winn HR, ed. Youmans and Winn Neurological Surgery. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 451.

Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.

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  • Sturge-Weber syndrome - soles of feet

    Sturge-Weber syndrome - soles of feet

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  • Sturge-Weber syndrome - legs

    Sturge-Weber syndrome - legs

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  • Port wine stain on a child's face

    Port wine stain on a child's face

    illustration

    • Sturge-Weber syndrome - soles of feet

      Sturge-Weber syndrome - soles of feet

      illustration

    • Sturge-Weber syndrome - legs

      Sturge-Weber syndrome - legs

      illustration

    • Port wine stain on a child's face

      Port wine stain on a child's face

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Sturge-Weber syndrome

           
             

            Review Date: 11/1/2021

            Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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