Sturge-Weber syndrome is a rare disorder affecting small blood vessels. It is characterized by a port-wine birthmark on the face, a blood vessel tumor (angioma) in the tissues that cover the brain, or both.

• This disorder can cause seizures, weakness, and increased pressure in an eye and can increase the risk of stroke.
• If children have a typical birthmark, doctors suspect the disorder and may do an imaging test to check for blood vessel tumors.
• Treatment focuses on relieving or preventing symptoms.

Sturge-Weber syndrome is present at birth but is not inherited. It affects blood vessels, particularly vessels in the skin, in the tissues that cover the brain, and in the eye. The port-wine birthmark is caused by an overgrowth of small blood vessels (capillaries) just under the skin. Tumors consisting of overgrown blood vessels (angiomas) may develop in the tissues that cover the brain, causing seizures or weakness on one side of the body. Abnormal blood vessels in the eye may cause glaucoma and affect vision. Abnormalities in the walls of arteries may increase the risk of strokes.

There are 3 types of Sturge-Weber syndrome:

• Type I: Port-wine birthmark and a brain angioma
• Type II: Port-wine birthmark but no brain angiomas
• Type III: A brain angioma but no port-wine birthmark

Symptoms

The port-wine birthmark varies in size and color, ranging from light pink to deep purple. It usually appears on the forehead and upper eyelid of one eye but may also include the lower eyelid. If both eyelids are involved, people are much more likely to have a brain angioma.

Seizures occur in about 75 to 90% of people and typically start by the time children are 1 year old. Usually, seizures occur on only one side of the body, opposite the birthmark, but they may affect the whole body. About 25 to 50% of people have weakness or paralysis on the side opposite the birthmark. About 50% of people have some intellectual impairment. Impairment is more likely when seizures start before age 2 years and cannot be controlled with drugs. Development of motor and language skills may be delayed.

Pressure within the eye may damage the optic nerve, causing glaucoma, usually in the eye on the same side as the birthmark. Glaucoma may be present at birth or develop later. The eyeball may enlarge and bulge out.

Diagnosis

Doctors suspect the diagnosis in children with the characteristic birthmark. Computed tomography (CT) or magnetic resonance imaging (MRI) is used to check for brain angiomas. A neurologic examination is done to check for evidence of seizures or weakness.

Treatment

Treatment focuses on relieving symptoms. Anticonvulsants and drugs to treat glaucoma are used. Surgery for glaucoma may be required (see Glaucoma: Treatment).

AspirinSome Trade Names
BAYER
may be given in low doses to reduce the risk of strokes.

Laser treatment may be used to lighten or remove the birthmark.

Last full review/revision February 2009 by Margaret C. McBride, MD