BALTIMORE — Researchers at Kennedy Krieger Institute are urging parents and doctors to watch for a specific type of birthmark that strongly indicates Sturge-Weber syndrome.
Sturge-Weber syndrome is a condition that affects blood vessel development in the skin, eye, and brain.
Dr. Anne Comi, Director of the Hunter Nelson Sturge-Weber Syndrome Center, at Kennedy Krieger Institute, and her team have made significant discoveries about early detection and treatment of this condition that can lead to seizures and other brain function problems.
"Port wine birthmark or capillary malformation is another name for it is enlarged, abnormal blood vessels in the skin, so it's a pink birthmark, pinkish red birthmark that's present at birth, and sometimes it's mistaken for a bruise, but it doesn't go away," Comi said.
WATCH: Birthmark discovery could prevent seizures in children
The size and location of these birthmarks are crucial indicators of risk.
Larger birthmarks pose higher risks, and when a large birthmark appears on both sides of the face, there's about a 50% chance of eye and brain involvement.
The Kennedy Krieger team has discovered a biomarker to identify the issue early through EEG testing, which examines brain activity patterns.
"A biomarker is a clinical or a patient characteristic or measurement that we can quantify and measure in a very objective way. And with the EEG we're able to look at the physiology of the brain, brain activity," Comi said.
In patients with Sturge-Weber syndrome, EEG tests reveal specific patterns during the first year of life.
"In patients with Sturge-Weber syndrome, over time, that first year of life, they frequently develop slowing, decreased amplitude, we call it decreased power and sharps and spikes, that's abnormal activity that indicates they're very high risk of beginning to have seizures soon," Comi said.
The first few years of life represent a critical window for these patients due to brain development patterns and blood flow changes.
"There's this period of high susceptibility of high risk, the first few years of life for these children, and it has to do with the developing brain. It has to do with the networks coming online and the risk of seizures. It also has to do with the timeline of blood flow in the developing brain, so those 1st 2-3-4 years are critical for these patients, and if you can get them past that, they often remain seizure-free, stable, can come off of the treatment and have continued to do well," Comi said.
The research brings hope through available treatment options that are both safe and affordable.
"Now we have a therapy to offer them, and it's an inexpensive, safe treatment. We know how to, if there are any side effects, we know how to manage them. And we have now children who are 6-7-8 years old who have never had a seizure," Comi said.
This breakthrough creates urgency for early detection because effective treatment is now available.
"Is that what creates the urgency? That that now we have a positive reason."
"That's right. That's right. So prior to us having shown that this treatment can change that prevent the seizures, delay the seizures, and result in better outcomes for these children," Comi said.
Children with these birthmarks now have a good chance of leading lives free of debilitating issues when properly identified and treated early.
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