Rare Disease Sleuths Uncover New Clues to Stroke

Drawing of a brain section with an inflamed blood vessel

Caption: A variation in the gene that codes for a key blood vessel enzyme makes children prone to fevers, rash, and strokes.
Credit: Jonathan Bailey, National Human Genome Research Institute, NIH

A medical mystery that began when a 3-year-old girl came to the NIH Clinical Center here in Bethesda, MD, a decade ago has just been solved. The findings not only promise to help children suffering from a devastating rare disease, but to advance our overall understanding of stroke and other blood vessel disorders.

When researchers first met the little girl, they were baffled. She had a most unusual—and unexplained—constellation of symptoms: recurring fevers, rashes, and strokes, which, sadly, had left her severely disabled. Researchers thought the cause probably wasn’t genetic, because none of the girl’s family members were affected, plus they hadn’t seen other children with similar problems. While they searched for clues, they treated the girl with immunosuppressive drugs to reduce blood vessel inflammation and thereby lower the chance of future strokes.

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