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.

The most common symptom of Sturge-Weber syndrome (SWS) is a port-wine 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.

The clinician will examine your child’s birthmark and do a complete exam. He or she may also order one of the following tests:

• Magnetic resonance imaging (MRI)
• Computerized tomography scan (also called a CT or CAT scan)

Sturge-Weber is a lifelong condition that can't be cured. However, treatment of symptoms can help prevent complications and improve your child's quality of life.

• Seizures: In many cases, seizures can be controlled with anti-seizure medications. In very severe cases, seizures may need to be treated with vagus nerve stimulation implants or neurosurgery. The surgery involves removing all or almost all of one side of the brain at the origin of seizure activity. Because a child's brain is "plastic," the remaining portion is able to take over most of the functions of the missing side. This surgery is recommended for only a small subset of patients and is not necessary for most cases of Sturge-Weber syndrome.
• Glaucoma: Eye drops or oral medications are both used to control glaucoma by decreasing the amount of excessive fluid within the eye. In more serious cases, surgery may be needed to improve fluid flow. If your child has SWS, but does not have glaucoma, he or she should still be followed regularly to check for glaucoma and amblyopia (also called “lazy eye”).
• Port wine birthmark: Laser treatment is available for children as young as 1 month of age to lighten the birthmark. The laser is "tuned" to a specific wavelength of light and produces a bright light that is absorbed by blood vessels. The abnormal blood vessels are destroyed without damaging the surrounding skin. Many treatment sessions are often required to lighten or completely remove the birthmark.
• Treatment for other symptoms: Depending on your child’s needs, he or she may also need other types of treatment. Other treatment options may include physical therapy for muscle weakness or behavioral and educational therapy for developmental delays.

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:

• Dermatology
• Neurology
• Neuropsychology
• Neurosurgery
• Ophthalmology
• Vascular anomalies