What are the symptoms of Sturge-Weber syndrome?

Port-wine stain birthmark (angioma): A large port-wine stain birthmark, also called an angioma, is typically the first sign of Sturge-Weber syndrome. This birthmark usually covers the forehead and at least one upper eyelid. In some cases, the birthmark may cover the side of the cheek, nose, or upper lip. In rare cases, both sides of the face may be affected. This flat birthmark varies in color from light pink to dark purple because it is made up of dilated blood vessels called capillaries. The birthmark itself does not cause any neurological problems in patients.

Seizures: Seizures occur in more than 60% of children with Sturge-Weber syndrome. Seizures usually begin during infancy and may worsen with age. Patients typically experience frequent partial motor seizures that cause convulsion to occur on the same side of the body as the birthmark. Prolonged seizures or a series of seizures without regaining consciousness in between (called status epilepticus) may also occur. This is considered an emergency that requires immediate medical attention. Over time, seizures may become more generalized, which means they involve larger areas of the brain.

Vision impairment: Another common symptom is glaucoma, which occurs when there is increased pressure inside the eyeball. Glaucoma develops if the abnormal blood vessels involve the eye and prevent fluid from properly draining from the eye. Glaucoma may be present at birth, or it may develop later in life. In extreme cases, the pressure on the eye may cause the eyeball to enlarge and bulge out of its socket. This condition is called buphthalmos. Left untreated, glaucoma may cause permanent damage to the optic nerve and retinal fibers, which leads to a progressive and permanent loss of vision.

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