Sturge-Weber syndrome is a rare congenital (present at birth) condition of unknown origin. A portwine 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 mouth and nose) and the meninges (covering of the brain) also can be affected.
Show AllBecause brain involvement is variable, symptoms differ from person to person. Some patients have no symptoms, whereas others may develop visual problems, seizures, or weakness or paralysis on one side. Learning disabilities ranging from mild to severe, as well as mental retardation, also are seen.
When a child has an extensive capillary malformation (portwine 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). These 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 portwine stain, resulting in disfigurement and bleeding
- Developmental delay, learning disabilities, or mental retardation
Management is based on physical findings and symptoms.
Seizures are treated with anti-seizure medications. When this approach is unsuccessful, surgical removal of brain lesions is occasionally performed.
Early and frequent testing for glaucoma is essential, as it can occur at any age. If untreated, glaucoma can lead to loss of vision.
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 portwine stains treated early in life may recur, if left untreated, they may become thickened, lumpy, and darker purple during adulthood.
For additional information on this or any Health Topic, please call the Family Resource Center, 513-636-7606, or your pediatrician.
