Sturge-Weber Syndrome

Sturge-Weber syndrome classically consists of a facial capillary malformation (previously called port-wine stain or port-wine birthmark), eye abnormalities and brain involvement. These all result from a change early in development affecting the formation of blood vessels in a similar area, and occur on the same side of the body. Abnormal blood vessels around the eye can lead to poor drainage of blood from the eye, resulting in increased pressure in the eye (called “glaucoma”). Abnormal blood flow in the brain and the meninges (outer lining of the brain) can lead to seizures and developmental delays.

Recently a genetic change has been identified in Sturge-Weber syndrome. It is found in the affected tissues (skin and brain) but not in the normal tissue nearby. The same mutation has also been found in capillary malformations that are not associated with the syndrome, so genetic testing cannot be used to diagnose Sturge-Weber.

Skin: A capillary malformation is not always present on the face. The lesion is on one or both sides. Brain involvement is most often seen when a lesion is on the forehead. Eye problems are most often seen when the malformation includes the eyelids.

Eye: High pressure in an eye may not have any symptoms. It may present with redness or tearing. Older children may have decreased vision on the side with the malformation. When the pressure increases very early in life, the eyeball can get bigger. The pressure of the eye can be measured by an eye doctor. If glaucoma is present, the pressure of the eye will be higher in the eyes with the malformation.

Brain: Symptoms differ from person to person. Some patients have no symptoms. Others have migraines, seizures, weakness or paralysis on one side. Varying developmental disabilities can be seen.

Tests should be performed when a malformation is on the forehead or the upper eyelid. An eye examination can determine if glaucoma (high pressure in the affected eye), buphthalmos (enlargement of the affected eye), or other problems are present. He can determine if the vision has been affected. Magnetic resonance imaging (MRI) is used to identify any brain involvement.

Skin:

  • Darkening and/or thickening of the capillary malformation
  • Skin breakdown with potential bleeding and scarring
  • Overgrowth of the underlying tissues

Eye:

  • Glaucoma, with the possibility of optic nerve damage
  • Buphthalmos (enlargement of the affected eye)
  • Choroidal hemangioma, with the possibility of retinal detachment
  • Decreased vision
  • Blindness

Brain:

  • Seizures (convulsions) commonly start during early childhood and may worsen with age
  • Weakness or paralysis on one side
  • Developmental delays, learning disabilities, or intellectual disability

Management is based upon physical findings and symptoms. A team approach is needed.

Skin: Laser therapy helps to get rid of the problem blood vessels. This results in lightening of the capillary malformation after multiple treatments. The degree of lightening and the number of treatments needed is determined on an individual basis. Laser treatments decrease the likelihood of darkening and thickening of the lesion over time if done early in life.

Eye: Early and frequent eye exams are essential. Glaucoma can be treated by an eye doctor with eye drops or medications by mouth. If this does not work, surgery may be necessary.

Brain: Seizures are treated by a doctor using medications. When these treatments do not work, surgical treatment may be considered. Physical therapy is an important part of the treatment of weakness and paralysis.

Last Updated 02/2020

Reviewed by Adrienne Hammill, MD, PhD

Meet the team.

The hemangioma and vascular malformation program has a wide range of experts in one of the largest comprehensive vascular anomaly centers.

Contact us.