Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare congenital (present at birth) condition that has an identified genetic mutation, although the same mutation is found in capillary malformations that are not associated with Sturge-Weber syndrome.

A port-wine stain (capillary malformation) on the face and often the eyelids may signal the presence of this syndrome; however, not all infants with a facial capillary malformation have this syndrome. Variation in the size of the facial lesion is common, and one or both sides of the face may be involved.

The mucous membranes (lining of the eyes, mouth and nose) and the meninges (covering of the brain) also can be affected.

Because brain involvement is variable, symptoms differ from person to person. Some patients have no symptoms, whereas others may develop migraines, visual problems, seizures, or weakness or paralysis on one side.

Learning disabilities ranging from mild to severe, as well as mental retardation, can be seen.

When a child has an extensive capillary malformation (port-wine stain) that involves the skin on the eyelids, diagnostic tests should be performed.

Magnetic resonance imaging (MRI) determines if there is brain involvement.

An eye examination determines if glaucoma (increased pressure of the fluid within the eye) is present.

  • Seizures (convulsions) are commonly seen during childhood and may worsen with age
  • Glaucoma, with the possibility of blindness in the affected eye
  • Weakness or paralysis on one side
  • Hypertrophy (overgrowth) of the port-wine stain, resulting in disfigurement and potentially bleeding
  • Developmental delay, learning disabilities, or mental retardation

Management is based on physical findings and symptoms.

Seizures and seizure-like episodes are managed by a neurologist using anti-seizure medications. In addition, medications such as low-dose aspirin are routinely used.  When this approach is unsuccessful, surgical removal of brain lesions is occasionally done.

Early and frequent testing for glaucoma is essential, as it can occur at any age. If untreated, glaucoma can lead to loss of vision. Glaucoma can be treated with eye drops or oral medications.  If this is not effective, surgery may be necessary.

Paralysis or weakness is treated with appropriate physical therapy.

Laser therapy with the pulsed-dye laser has been shown to effectively destroy blood vessels without damaging normal skin. Although some port-wine stains treated early in life may recur, if left untreated, they may become thickened, bumpy, and darker purple in adulthood.

Last Updated 12/2013