Sturge-Weber Syndrome

What is Sturge-Weber syndrome?

Sturge-Weber syndrome (SWS) is a rare neurological condition that is present at birth and is not hereditary. Recently, researchers have found that the underlying cause of SWS is a somatic mosaic mutation in the GNAQ gene. SWS is often characterized by a port-wine birthmark on the child’s face. Other common symptoms of SWS are neurological abnormalities, including seizures, and eye problems, such as glaucoma. These three common characteristics of SWS occur at varying degrees from patient to patient.

What are the symptoms of Sturge-Weber syndrome?

The most common symptom of Sturge-Weber syndrome (SWS) is a port-wine stain, or birthmark, on the face. The birthmark is typically located near or around an eye or on the forehead, and varies in size and color. Although rare, it is possible for a child to have SWS without a facial port-wine birthmark.

Patients with SWS can have neurological problems. These problems are caused by excessive blood vessel growth (angiomes) on the brain. Generally, these vessels are located on the same side as the facial birthmark. The excessive blood vessel growth causes abnormal brain functioning, including seizures. Most patients with SWS will have seizures before age 1. Patients with SWS may also develop hemiparesis, a weakening or loss of the use of one side of the body, as well as varying levels of developmental delays. Only around 8 percent of children with a port-wine birthmark have neurological problems.

About 70 percent of patients with SWS also have glaucoma, or increased pressure in the eye, either at birth or later in life. Most children with SWS have glaucoma only in the eye with the port-wine birthmark. 

How we care for Sturge-Weber syndrome

The Boston Children’s Hospital Sturge-Weber Syndrome Clinic is a national leader in caring for children with Sturge-Weber syndrome.

Our team includes specialists in the fields of: