title: Coexistence of Gaucher Disease and Philadelphia positive chronic granulocytic leukemia.
abstract: A patient with coexistent Gaucher disease and Philadelphia positive chronic granulocytic leukemia (CGL), who subsequently developed myeloblastic leukemia, is described. The diagnosis of CGL was established according to standard clinical, morphological, biochemical, and cytogenetic data, while the diagnosis of true Gaucher disease was based on biochemical data and the presence of Gaucher cells with typical ultrastructural features in the bone marrow and spleen. Enzyme studies showed low activity of ceramide-beta-glucosidase in the patient's peripheral blood leukocytes, skin fibroblasts, and splenic tissue and the presence of increased amounts of ceramide-beta-glucoside in the spleen. This case is reported in order to draw attention to the possible coexistence of these two diseases in the same patient, as opposed to the well-recognized finding of "Gaucher-like" cells in the bone marrow of patients with CGL. Enzyme studies enable distinction between these two situations.
mesh_terms: D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D005776:Gaucher Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007951:Leukemia, Myeloid / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D013154:Spleen / Q000473:pathology