When Your Child Has Sturge-Weber Syndrome (SWS)

Sturge-Weber syndrome (SWS) causes a pink or purple birthmark called a port wine stain on the face. Abnormal blood vessels form on the surface of the brain on the same side as the port wine stain. This can lead to complications such as seizures, increased pressure in the eye (glaucoma), or developmental delay. Since it is caused by a spontaneous gene mutation and is not hereditary, recurrence is not expected. Your child's healthcare provider will tell you more about your child's condition and the treatment options.

What are the causes of SWS?

SWS is present at birth (congenital). There is no known cause. It can happen by chance in any child.

What are the symptoms of SWS?

Symptoms often appear in early infancy. They can vary widely and may include:

• Port wine stain on the face, often over the forehead and one eye on one side of the face

• Convulsions or seizures, often on the side opposite the birthmark

• Muscle weakness in the affected side of the body, called hemiparesis (this can be due to the lack of oxygen, called ischemia, to parts of the brain or from a seizure)

• Problems with learning, reasoning, or behavior (developmental delay)

• Increased pressure in the eye (glaucoma)

• Trouble seeing because of a noncancerous (benign) tumor in the blood vessels between the white of the eye and the retina (called an exudative choroidal hemangioma)

• Children with SWS are also at greater risk for migraines 

How is SWS diagnosed?

A port wine stain is often the first clue that your child may have SWS. Your child will likely see a pediatric neurologist for diagnosis and treatment. This is a healthcare provider who specializes in nervous system problems. They may do the following:

• Nervous system exam. This checks how well your child’s nervous system is working. During the exam, the provider checks your child’s muscle strength, balance, coordination, and reflexes. They also check skills such as thinking, memory, vision, or hearing.

• Eye exam. This is done to check for glaucoma. During the exam, the provider will measure the pressure inside your child's eye. Your child will likely need exams often, depending on the early findings. Children with normal pressure are screened yearly for glaucoma. 

• Imaging tests. These may include an MRI or CT scan. These tests show detailed pictures of the brain and check for abnormal blood vessels.

How is SWS treated?

Treatment for SWS varies depending on your child’s symptoms. Possible treatments include:

• Cosmetic or laser surgery to tighten or remove the port wine stain

• Surgery to treat complications, such as medicine-resistant seizures or glaucoma

• Medicines to treat seizures or glaucoma

• Various treatments for an exudative choroidal hemangioma, including photocoagulation, photodynamic therapy, external beam radiotherapy, brachytherapy, and antivascular endothelial growth factor

• Some studies have shown that low-dose aspirin along with anti-seizure medicines may slow the onset and decrease the amount of seizure activity

• Special education to help manage symptoms of developmental delay

• Supportive care, such as speech, physical, or occupational therapy

What are the long-term concerns?

SWS is a lifelong condition. But your child can learn ways to manage symptoms and be as active and independent as possible. Regular visits to the healthcare provider are advised to check your child’s health and for routine testing. If your child has seizures or glaucoma, medicines may need to be taken daily.

Coping with your child’s condition

It helps to have a positive outlook while supporting your child. Help your child to be active and to try new things. Think about getting counseling, which can help you and your child deal with any worries or concerns. And get help from friends, community resources, and support groups. The more you learn about your child’s condition and its treatments, the more in control you may feel. For more information about SWS, start by contacting the Sturge-Weber Foundation at www.sturge-weber.org.