Acute myeloid leukemia/transient abnormal myelopoeisis masquerading as sepsis in a neonate with down syndrome

A term 7 day old girl with phenotype of Down syndrome presented with irritability, poor feeding and respiratory distress for one day. She had echymotic patches on trunk and arm, moderate hepato-splenomegaly, swollen cyanosed cold right forearm. Neonatal sepsis was suspected but sepsis screen was negative. Peripheral blood smear revealed marked leucocytosis with 70% myeloblast cells, thrombocytopenia and normal erythrocyte count. Bone marrow had 48% myeloblasts. Differential diagnosis of transient abnormal myelopoiesis (with life threatening symptoms) and congenital leukemia were kept. We chose to report this case as it highlights the association between commonest chromosomal anomaly-Down syndrome and various hematological anomalies.