Visceral leishmaniasis associated with bone marrow failure in myelodysplastic syndrome: case report

Visceral leishmaniasis (VL) can closely mimic myeloid malignancies, particularly in elderly patients from endemic regions, leading to diagnostic delays and therapeutic challenges. We describe a complex case illustrating the clinical and diagnostic overlap between VL, myelodysplastic syndrome (MDS), and suspected leukemic transformation. Clinical, hematological, cytomorphological, immunophenotypic, and molecular evaluations were performed in an 86-year-old patient presenting with pancytopenia, recurrent fever, weight loss, and progressive clinical deterioration. Bone marrow (BM) aspiration, multiparametric flow cytometry, peripheral blood and BM smear analysis, and PCR targeting kinetoplast DNA were used to investigate hematologic and infectious etiologies. Initial BM examination revealed hypercellularity with marked dyserythropoiesis and 19% blasts, raising suspicion of acute myeloid leukemia. Subsequent evaluation demonstrated asynchronous granulocytic maturation without significant blast expansion, supporting MDS diagnosis. Persistent fever and worsening cytopenias prompted parasitological reassessment, revealing abundant amastigotes in peripheral blood and BM. PCR confirmed Leishmania infantum infection. The final diagnosis included MDS with possible leukemic transformation associated with VL. Management was complicated by concurrent hematologic and infectious disease and religious refusal of transfusion support. Despite antiparasitic therapy and supportive care, the patient condition deteriorated, culminating in death due to refractory cytopenia and infection. This case highlights the diagnostic conundrum posed by the mimicry between VL and myeloid malignancies and underscores the bidirectional exacerbation between chronic infection and hematologic neoplasia, influencing the disease progression and therapy.