Sturge-Weber Syndrome

Sturge-Weber Syndrome
Sturge-Weber Syndrome

Overview Of Sturge-Weber Syndrome

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.

Commonly Associated With

Encephalotrigeminal angiomatosis; SWS

Causes Of Sturge-Weber Syndrome

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 Of Sturge-Weber Syndrome

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 & Tests

Glaucoma may be one sign of the condition.

Tests may include:

  • CT scan
  • MRI scan
  • X-rays

Treatment Of Sturge-Weber Syndrome

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