A Rare Myelodysplastic Neoplasm of Children: Childhood Myelodysplastic Syndrome with Low Blasts

Abstract

Myelodysplastic syndromes are rare in children, with refractory cytopenia of childhood (RCC) being the most common subtype. We present the case of a 22-month-old boy diagnosed with RCC, initially suspected of having recurrent infections. The child exhibited anemia, thrombocytopenia, leukocytosis, and splenomegaly, with a bone marrow aspiration revealing poor cellularity, dysplasia, and hematogones, but no blasts. Further analysis excluded hereditary and clonal leukemic abnormalities. Despite ongoing mild cytopenia, the child’s condition remained stable without transfusions, and hematopoietic stem cell transplantation was not recommended. This case highlights the diagnostic challenges of RCC and the importance of early detection for improved outcomes.