Sturge-Weber syndrome

Feb 22, 2005 Viewed: 554

Alternative names
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 (from too many blood vessels just beneath the skin) and neurologic problems.

Causes, incidence, and risk factors
The cause of Sturge-Weber is unknown. There is no known hereditary component.

Symptoms

     
  • Port-wine stain (more common on the face than the body)  
  • Convulsions  
  • 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 convulsions.  
  • 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 http://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 convulsions, can be addressed.

Complications

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

Calling your health care provider
All birthmarks, including a port-wine stain, should be evaluated by the health care provider. Convulsions, visual problems, paralysis, and change in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated promptly.

Prevention
There is no known prevention.

Johns Hopkins patient information

Last revised: December 4, 2012
by Harutyun Medina, M.D.

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