Misuse of marrow examination in the diagnosis of Gaucher disease.

W O YEARS AGO one of us received a call from a T pediatrician concerning a 3-year-old Jewish child with asymptomatic splenomegaly. The diagnosis of Gaucher disease was suspected, and he had heard that the diagnosis could be established enzymatically from a blood sample. We assured him that this was, indeed, quite simple to do. The next day we received a blood sample, and the following morning called the pediatrician to congratulate him on his clinical diagnosis: the child did have Gaucher disease. “I know,” he said, and then we learned to our dismay that he had proceeded to perform a marrow examination on his luckless patient. Just a few months ago we saw another child who had been diagnosed by marrow examination, which had then been followed by bilateral iliac crest biopsies and a liver biopsy “to establish the extent of the disease.” In 1967 Kampine et all showed that the enzymatic defect