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An Amish patient came to CHOP with unexplained brain inflammation. It turned out to be an ultra-rare genetic disorder.

An Amish patient came to CHOP with unexplained brain inflammation. It turned out to be an ultra-rare genetic disorder.

When an Amish patient arrived at the Children’s Hospital of Philadelphia with fatigue, a severe headache, and weakness on one side of her body, doctors scrambled to find a cause. All they could see was that she had brain inflammation. That’s usually caused by an infection, but her tests came back normal. High dose steroids, a standard treatment, weren’t effective. …

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