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The day Colleen Watson delivered her son Kyle was one of the happiest days of her life. But almost immediately, Watson and her husband Tom were faced with the possibility that the port wine stain that covered Kyle’s eyelid, crossed his forehead and circled around the back of his head was more than a birthmark, that it could be a sign of Sturge-Weber Syndrome, a disorder linked to seizures, intellectual disabilities, weakness on one side of the body, epilepsy, developmental delays, glaucoma and organ abnormalities.
Kennedy Krieger Institute and Johns Hopkins Medicine operate the Hunter Nelson Sturge Weber Center devoted to the diagnosis, treatment and research of Sturge-Weber Syndrome (SWS). While the port wine stains are the most visible signs of the disorder, its neurological symptoms stem from abnormal blood vessels on the surface of the brain, called angiomas, that are typically located on the occipital region of the brain on the same side as the port wine stain. These angiomas create abnormal conditions for brain function in the region, leading to seizures and other symptoms.
A pediatrician told the Watsons that if Kyle was seizure-free after six weeks, he would be in the clear. A neurologist disagreed and recommended doing an MRI when Kyle was only one month old.
Desperate for information, Watson began searching the Internet for anything she could find about SWS. That’s when she discovered Dr. Anne Comi, director of the Hunter Nelson Sturge-Weber Center.
One of the world’s few experts in SWS, Dr. Comi founded the Sturge-Weber Syndrome Center, now located at Kennedy Krieger’s Broadway facility, in October 2002. Since its inception, the center has evaluated, studied, diagnosed and treated hundreds of SWS patients from around the world, ranging from day-old babies to adults in their sixties.
During Kyle’s first office visit, Dr. Comi spent two hours examining him and answering the Watsons’ questions.
“It meant so much to talk with someone who could finally explain everything,” Colleen Watson says. “She was a lifesaver.”
Any newborn illness can cause stress for a family. But SWS diagnosis is especially difficult for parents because while the port-wine stain is evident at birth, the disorder’s other symptoms don’t appear immediately, says Dr. Comi.
Usually, physicians use MRIs to determine whether patients have angiomas. Unfortunately, as powerful as MRIs with contrast are, they often can’t detect angiomas in an infant. If a first MRI is normal, it’s often repeated, sometimes multiple times, during the first few years of life. What’s more, babies and small children must be under sedation while the tests are being performed, making the test far more stressful and invasive than it would be for an adult. That’s why Dr. Comi is trying to develop a quantitative electroencephalogram (EEG) approach, using a test that detects abnormalities in electrical activity in the brain, as a completely safe and noninvasive way to assess brain function and diagnose SWS early on. By conducting EEGs every three months, Dr. Comi hopes to determine whether there’s a decrease in power, the measure of brain function. While MRIs will still be necessary to establish a final diagnosis, these less invasive tests are much easier on children and may help individualize the timing of imaging and prevent unnecessary MRIs down the road.
A participant in Dr. Comi’s research, which is funded by grants from the National Institutes of Health and Hunter’s Dream for Cure, Kyle had his first EEG at four months old. Every three months, the Watsons drive from their suburban Philadelphia home down to Baltimore for Kyle’s next test.
It’s not clear yet whether Kyle will be affected by the neurological problems associated with SWS. But at a year old, he remains seizure-free.
There is no known cause for SWS, and there is no cure. But thanks to Dr. Comi’s research, patients, families and physicians around the world will have a better understanding of SWS, how best to treat it and how to prevent the seizures and other complications associated with the disorder.
