A case of myelodysplastic syndrome is reported, in which the bone marrow contained many cells with the typical light microscopic morphology of Gaucher cells. In the absence of any evidence of inherited Gaucher's disease, these cells are considered to be pseudo-Gaucher cells, which have been described previously in association with other haematological diseases. This is the first report of their occurrence in myelodysplastic syndrome. (J Clin Pathol 1999;52:917-918) Keywords: myelodysplasia; pseudo-Gaucher cells
Case reportA 72 year old woman presented with a four day history of general malaise and flu-like symptoms. Examination revealed no abnormality apart from mild hypertension and an area of cellulitis on her right shoulder. She had no significant past medical history and was taking no drugs. A full blood count showed a haemoglobin concentration of 94 g/l, white cell count 7.2 × 10 9 /l, neutrophils 6.2 × 10 9 /l, platelets 78 × 10 9 /l, and MCV 84 fl. Examination of the blood film revealed mild red cell anisocytosis, but very abnormal neutrophils with abnormal nuclear segmentation, Döhle bodies, and hypogranularity (fig 1), suggesting myelodysplasia. There were no blasts in the peripheral blood.Examination of a bone marrow aspirate taken during the admission confirmed the diagnosis of myelodysplasia. The marrow was markedly hypercellular. Micromegakaryocytes were present, and many of the larger megakaryocytes showed abnormal nuclear configurations. Myelopoiesis was left shifted with marked hypogranularity. Morphologically identifiable myeloblasts accounted for 4% of nucleated cells. (Of note, however, was the presence of a significant (23%) population of CD34 positive cells on immunophenotyping.) No pathological sideroblasts were identified. On the basis of these appearances, the myelodysplasia was subclassified as refractory anaemia according to the French-American-British (FAB) classification. Sea blue histiocytes were prominent, but particularly striking was the large number of cells with the typical morphological appearance of Gaucher cells (fig 2). Electron microscopic examination was, unfortunately, not performed. Cytogenetic analysis revealed a normal karyotype.