Transient Abnormal Myelopoiesis in Down’s Syndrome - A Diagnostic Dilemma

Transient abnormal myelopoiesis is a unique syndrome characterized by leukocytosis with transient appearance of blast cells in the peripheral blood and bone marrow. Children with Down syndrome are at a higher risk of developing the disease as compared to normal children. Affected patients can be symptomatic or asymptomatic. We report a case of a male infant, born to a mother with history of infertility, who was found to have anemia, thrombocytopenia, and markerd leukocytosis with 80% immature cells and many blast cells in day two of life. Complete work up was done and the phenomenon of transient abnormal myelopoiesis was confirmed by immunophenotyping using flow cytometry. This is a self-limiting condition which requires supportive care and it resolves within few months. Patients are at higher risk of developing acute megakaryocytic leukemia after one year of age.