No coincidence, then, that the CBS news show, Sixty Minutes, featured a real medical detective last night. William Gahl, MD, PhD, is clinical director of the National Human Genome Research Institute and head of the Undiagnosed Diseases Program at NIH. (Learn more from this article, Medical Detectives Find Their First New Disease.)
In the Sixty Minutes segment, Dr. Gahl mentions a Duke Department of Medicine faculty member:
Well, Sally's referral letter is sort of interesting. It came from an endocrinologist at Duke, who said, "In my 38 years of practice, I'd never seen a case like this," and so that got my attention and then the pictures caught my attention too.
Diana McNeill, MD, professor of medicine (Endocrinology, Metabolism and Nutrition) and former director of the Internal Medicine Residency Program, alerted us to the identity of this Duke doc: Warner Burch, MD, professor of medicine (Endocrinology, Metabolism and Nutrition).
Dr. Burch had contacted Gahl about a patient who presented with rapidly progressive muscle hypertrophy. As Sixty Minutes reports, the patient ended up having a plasma cell dyscrasia that caused cardiac and muscle hypertrophy. She received a bone-marrow transplant, and is doing well.
"I remembered when Dr. Burch presented the case at Endocrinology Grand Rounds," said Dr. McNeil.
But, said Dr. Burch, "the underlying mechanism of how the plasma cell disorder causes the clinical picture of muscle hypertrophy remains unexplained."
Watch the Sixty Minutes segment: