Sturge-Weber syndrome (patient information)

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Sturge-Weber syndrome

Overview

What are the symptoms?

What are the causes?

When to seek urgent medical care?

Diagnosis

Treatment options

Where to find medical care for Sturge-Weber syndrome?

What to expect (Outlook/Prognosis)?

Possible complications

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S.

Overview

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.

What are the symptoms of Sturge-Weber syndrome?

What causes Sturge-Weber syndrome?

The cause of Sturge-Weber is unknown. It is not thought to be passed down (inherited) through families.

When to seek urgent medical care?

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.

Diagnosis

Glaucoma may be one sign of the condition.

Tests may include:

  • X-rays
  • MRI scan
  • CT scan

Treatment options

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

Where to find medical care for Sturge-Weber syndrome?

Directions to Hospitals Treating Sturge-Weber syndrome

What to expect (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 neurologic 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

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001426.htm

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