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 treatment options for your child.
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 usually appear in early infancy. They can vary widely and may include:
Port wine stain on the face, usually over the forehead and one eye
Convulsions or seizures
Muscle weakness in the affected side of the body (hemiparesis). This can be due to the lack of oxygen (ischemia) to parts of the brain or from a seizure.
Problems with learning, reasoning, behavior (developmental delay)
Increased pressure in the eye (glaucoma)
Trouble seeing because of a noncancer (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 neurologic problems. He or she may do the following:
Neurologic exam. This checks how well your child’s nervous system is working. During the exam, the healthcare provider checks your child’s muscle strength, balance, coordination, and reflexes. He or she also checks skills such as thinking, memory, vision, or hearing.
Eye exam. This is done to check for glaucoma. During the exam, the healthcare 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 the development of 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 (treatments can include photocoagulation, photodynamic therapy, external beam radiotherapy, brachytherapy, or antivascular endothelial growth factor).
Aspirin to decrease the risk of weakness of one side of the body (hemiparesis) from a lack of oxygen to the brain.
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 recommended 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. Encourage 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 seek 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.