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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. 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

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

Support Groups

The following resources can provide more information on SWS:

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

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

Flemming KD, Brown RD. Epidemiology and natural history of intracranial vascular malformations. In: Winn HR, ed. Youmans and Winn Neurological Surgery. 7th ed. Philadelphia, PA: Elsevier; 2017:chap 401.

Maguiness SM, Garzon MC. Vascular malformations. In: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. Neonatal and Infant Dermatology. 3rd ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 22.

Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.

  • Sturge-Weber syndrome - soles of feet

    Sturge-Weber syndrome - soles of feet - illustration

    This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome. Glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures may also be seen.

    Sturge-Weber syndrome - soles of feet

    illustration

  • Sturge-Weber syndrome - legs

    Sturge-Weber syndrome - legs - illustration

    Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.

    Sturge-Weber syndrome - legs

    illustration

  • Circulatory system

    Circulatory system - illustration

    Blood used by the body is brought back to the heart and lungs by the veins of the body. Once the blood has gathered more oxygen from the lungs, it is pumped back out to the body through the arteries.

    Circulatory system

    illustration

  • Port wine stain on a child's face

    Port wine stain on a child's face - illustration

    Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body. Port wine stains may appear in association with other syndromes.

    Port wine stain on a child's face

    illustration

  • Deep veins

    Deep veins - illustration

    Veins in the extremities carry blood to the heart and lungs, where the blood is oxygenated. As the blood returns to the heart from the lungs, the arteries carry the oxygen-rich blood out to the body.

    Deep veins

    illustration

    • Sturge-Weber syndrome - soles of feet

      Sturge-Weber syndrome - soles of feet - illustration

      This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome. Glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures may also be seen.

      Sturge-Weber syndrome - soles of feet

      illustration

    • Sturge-Weber syndrome - legs

      Sturge-Weber syndrome - legs - illustration

      Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.

      Sturge-Weber syndrome - legs

      illustration

    • Circulatory system

      Circulatory system - illustration

      Blood used by the body is brought back to the heart and lungs by the veins of the body. Once the blood has gathered more oxygen from the lungs, it is pumped back out to the body through the arteries.

      Circulatory system

      illustration

    • Port wine stain on a child's face

      Port wine stain on a child's face - illustration

      Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body. Port wine stains may appear in association with other syndromes.

      Port wine stain on a child's face

      illustration

    • Deep veins

      Deep veins - illustration

      Veins in the extremities carry blood to the heart and lungs, where the blood is oxygenated. As the blood returns to the heart from the lungs, the arteries carry the oxygen-rich blood out to the body.

      Deep veins

      illustration


     

    Review Date: 10/26/2017

    Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant 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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