Sturge-Weber Syndrome-Encephalotrigeminal Angiomatosis

Definition:

Sturge-Weber syndrome is a rare disorder present at birth. It is characterized by a birthmark (usually on the face) known as a port wine stain, and neurologic problems.

Alternative Names:

Encephalotrigeminal angiomatosis

Causes, incidence, and risk factors:

The cause of Sturge-Weber is unknown. There is no known hereditary component.

Sturge-Weber syndrome - soles of feet
Sturge-Weber Syndrome Feet
Sturge-Weber syndrome - legs
Sturge-Weber Syndrome Legs

Alternative Names:

Encephalotrigeminal angiomatosis

Symptoms:

  • Port-wine stain (more common on the face than the body)
  • Seizures
  • Paralysis or weakness on one side
  • Glaucoma
  • Learning disabilities

Signs and tests:

X-rays, MRI, or CT scans are useful to look for associated problems.

Treatment:

Treatment is based on the patient's signs and symptoms:

  • Anticonvulsant medicine for seizures
  • Physical therapy for paralysis or weakness
  • Eye drops or surgery for glaucoma
  • Laser Therapy for port-wine stains

Support Groups:

For information and support, see www.sturge-weber.com .

Expectations (prognosis):

Most cases of Sturge-Weber are not life-threatening. The quality of life depends on how well the symptoms, such as seizures, can be addressed.

Complications:

  • Glaucoma (increased intraocular pressure) with the possibility of blindness in the affected eye
  • Seizures
  • Continued growth of the port-wine stain
  • Paralysis on one side
  • Emotional and behavioral problems
  • Developmental delays
  • Abnormal blood vessel growth in the skull
 
;