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Sturge-Weber Syndrome

What Is Sturge-Weber Syndrome?

Sturge-Weber syndrome (SWS) is a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye. This stain is a birthmark caused by an overabundance of capillaries near the surface of the skin. Blood vessels on the same side of the brain as the stain may also be affected. A large number of people with SWS experience seizures or convulsions. Other complications may include increased pressure in the eye, developmental delays, and weakness on one side of the body.

The medical term for SWS is encephalotrigeminal angiomatosis. According to the National Organization for Rare Disorders, SWS occurs in one of every estimated 20,000 to 50,000 live births. Approximately one in 1,000 babies are born with a port-wine stain. However, only 6 percent of those babies have symptoms associated with SWS.

What Are the Symptoms of Sturge-Weber Syndrome?

The most apparent indication of SWS is a port-wine stain, or red and discolored skin on one side of the face. The discoloration is due to dilated blood vessels in the face that make the skin appear reddened.

Not everyone with a port-wine stain has SWS, but all children with SWS have a port-wine stain. A child must have the port-wine stain and abnormal blood vessels in the brain on the same side as the stain to be diagnosed with SWS.

In some children, abnormal vessels don’t cause any symptoms. In others, they can cause the following symptoms:

  • developmental delays
  • cognitive impairment
  • seizures
  • weakness on one side of the body
  • paralysis

According to the American Association for Pediatric Ophthalmology and Strabismus, an estimated 50 percent of children with SWS develop glaucoma during infancy or later in childhood. Glaucoma is an eye disease often caused by increased pressure in the eye. This can cause vision impairment, sensitivity to light, and eye pain.

What Causes Sturge-Weber Syndrome?

Though SWS is present at birth, it isn’t an inherited condition. Instead, it’s the result of a random mutation in the GNAQ gene.

The blood vessel formations associated with SWS start when a baby is in the womb. Around the sixth week of development, a network of nerves develops around the area that will become a baby’s head. Normally, this network goes away in the ninth week of development. In babies with SWS, however, this network of nerves doesn’t go away. This reduces the amount of oxygen and blood flowing to the brain, which can affect brain tissue development.

How Is Sturge-Weber Syndrome Diagnosed?

Doctors can often diagnose SWS based on the symptoms that are present. Babies with SWS may not always be born with the characteristic port-wine stain. However, they often develop the birthmark shortly after birth.

If your child’s doctor suspects that your child may have SWS, they’ll order imaging tests, such as CT and MRI scans. These tests produce detailed images of the brain, allowing the doctor to look for signs of brain damage. They’ll also perform eye tests to check for the presence of glaucoma and other eye abnormalities.

How Is Sturge-Weber Syndrome Treated?

Treatment for SWS can vary depending on the symptoms a child is experiencing. It may consist of:

  • medications known as anticonvulsant medications, which can reduce seizure activity
  • eye drops, which can decrease eye pressure
  • surgery, which can relieve glaucoma symptoms
  • physical therapy, which can strengthen weak muscles
  • educational therapies, which can help children with developmental delays to advance as much as possible

If your child wishes to reduce the appearance of a port-wine stain, laser treatments may be used. It’s important to note, however, that these treatments may not completely remove the birthmark.

What Complications Can Sturge-Weber Syndrome Cause?

According to Johns Hopkins Medicine, 80 percent of children with SWS also have seizures. Twenty-five percent of those children have full seizure control, 50 percent have partial seizure control, and 25 percent have no seizure control from medication.

Most children with SWS have a port-wine stain and brain abnormalities that affect only one side of the brain. In some children, however, both sides of the brain may be affected. These children are more likely to experience developmental delays and cognitive impairment.

What Is the Outlook for Someone with Sturge-Weber Syndrome?

SWS can affect children in different ways. Some children may experience seizure disorders and severe development delays. Other children may not have any symptoms other than a noticeable port-wine stain. Talk to a doctor to learn more about your child’s specific outlook based on their symptoms.

Content licensed from:

Written by: Rachel Nall, RN, BSN, CCRN
Medically reviewed on: Feb 25, 2016: Steve Kim, MD

This feature is for informational purposes only and should not be used to replace the care and information received from your health care provider. Please consult a health care professional with any health concerns you may have.
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