Tuesday, March 26, 2024

Krabbe disease

Many years ago I saw a 10 months infant male due to concerns regarding developmental regression. On examination it was evident that something dreadful was happening. A workup was initiated. For cerebral imaging a preoperative examination was necessary. The mother told me the pediatrician said, "Why, he looks pretty normal to me." (On another occasion the same pediatrician called me about a baby in the normal newborn nursery. The neonate had  lost interest in feeding. A variety of laboratory studies were obtained. The pediatrician mentioned that an ammonia was 400-500, He said, "I was planning on rechecking it tomorrow." I said, recheck it right now and I'll be over. The recheck value was greater than 1,000. Within hours the newborn was transferred to the University of Minnesota to be treated with peritoneal dialysis. The diagnosis was propionic acidemia. But I digress.) Lysosomal hydrolases were requested. I then had a call from David Wenger. "Guess the diagnosis," he said. Krabbe was my correct guess. The infant had an asymptomatic 2 year old brother. He was then tested, leading to a second phone call from David Wenger. Since the 2 year old was asymptomatic, he was deemed eligible for bone marrow transplantation. This was the first unrelated cord blood transplant done at the University of Minnesota. The transplantation was successful. I followed the older brother to adulthood. He had some attention difficulties and some tightness of the heel cords. See: https://childnervoussystem.blogspot.com/2015/07/reminiscences.html

A somewhat similar story. See:https://www.youtube.com/watch?v=VAJY7DEXdsI

Newborn screening: https://www.youtube.com/watch?v=9E6IStnBnbQ



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