Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis
Lee, R.E.; Robinson, D.B.; Glew, R.H.
Archives of Pathology and Laboratory Medicine 105(2): 102-104
1981
ISSN/ISBN: 0003-9985 PMID: 6779779 Document Number: 182032
The physician who diagnoses Gaucher's disease should take advantage of the noninvasive method that analyzes WBCs for residual .beta.-glucocerebrosidase and .beta.-glucosidase activities. When this method is carried out in conjunction with the measurement of serum acid phosphatase levels, a bone marrow examination may be unnecessary. With this method, an adult who had mild splenomegaly and abdominal pain was studied. When bone marrow was finally obtained subsequent to diagnosis by the enzymatic analysis, the deposits that are specifically formed in Gaucher's disease were easily demonstrated by EM. These methods are apparently more specific for the diagnosis of Gaucher's disease than is the light microscopic finding of bone marrow cells that have abundant and striated cytoplasm.