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A 56-year-old man with Down syndrome (DS) presented with a fever for the previous 7 weeks. On evaluation he was found to have bicytopenia with hemoglobin (Hb) of 87 g/L and platelet count of 100x109/L. Total leukocyte count was 5.9x109/L. Even after an adequate trial of hematinics, the anemia persisted. Bone marrow examination revealed significant dysgranulopoiesis in 43% of neutrophils in the form of hypolobation, hypogranulation, ring forms, and pseudo-Pelger-Huet anomaly (Figures 1a-1c). No significant dyserythropoiesis or dysmegakaryopoiesis was noted. Bone marrow biopsy showed hypercellular marrow spaces with granulocytic hyperplasia; however, megakaryocytes and erythroid series were adequately represented. Fluorescence in situ hybridization (FISH) testing was performed, which revealed deletion of the 20q12 locus in 140/200 (70%) of nuclei examined (Figure 1d). It was negative for -7/7q deletion, -5/5q deletion, and trisomy 8. The patient currently remains under observation with hematinic supplementation and close followup of blood counts.

A Case of Myelodysplastic Syndrome in an Adult with Down syndrome: a Rare Observation of a Well-known Pediatric Disease