Sturge-Weber Syndrome

What is Sturge-Weber syndrome?

Sturge-Weber syndrome is a rare disorder that is apparent at birth and includes a spectrum of associated characteristics. These characteristics are a port-wine-colored facial birthmark, neurological abnormalities, and eye abnormalities.

What causes Sturge-Weber syndrome?

The cause of Sturge-Weber syndrome is a mutation in the GNAQ gene, which is a gene that affects the capillaries. However, this genetic mutation is not thought to be passed down through families and occurs after the embryo has been fertilized.

What are the symptoms of Sturge-Weber syndrome?

Sturge-Weber syndrome is a highly variable disorder, in which patients can develop all three of the associated characteristics or just one. These characteristics and the symptoms they cause are as follows:

• Port-wine-colored facial birthmark: most notable initial symptom; ranges from light pink to dark purple in color of varying size, but usually affects at least one eyelid and/or the forehead of one side of the face
• Neurological abnormalities: seizures that occur on the side of the body opposite of the birthmark, muscle weakness, paralysis, vision problems, headaches, and developmental delays in some cases
• Eye abnormalities: glaucoma, eye development abnormalities, different-colored eyes, loss of vision, retinal detachment

In addition to these, patients with Sturge-Weber syndrome may also develop an abnormally large head, overgrowth of the port-wine birthmark, and symptoms of Klippel-Trenaunay syndrome.

How is Sturge-Weber syndrome diagnosed?

Sturge-Weber syndrome is diagnosed based on an identification of the characteristic symptoms of the disease, a detailed patient history, and a thorough clinical evaluation. To confirm a diagnosis, various imaging techniques can be used to assess the nuerological complications of Sturge-Weber syndrome. These imaging techniques include x-rays of the skull, MRI imaging, and a head CT scan.

What are the available treatments for Sturge-Weber syndrome?

While there is no cure for Sturge-Weber syndrome, the condition is usually not life threatening with proper symptom management, especially for seizures. That being said, signs and symptoms can be treated with:

• Anti-seizure medications and low-dose aspirin
• Eye drops or eye surgery for glaucoma
• Laser therapy to remove port-wine stains
• Physical therapy for paralysis or weakness
• Brain surgery to treat seizures in severe cases

Where can I find more information on Sturge-Weber syndrome?

• Medline Plus
• National Organization for Rare Disorders (NORD)
• NIH