Unravelling myelofibrosis in infants: A hidden pediatric challenge!

A 6-month-old boy presented with complaints of irritability, decreased feeding and high-grade intermittent fever for 20 days. He had moderate hepatosplenomegaly. Baseline cultures were negative but urinary Cytomegalovirus polymerase chain reaction was positive. He was started on Inj. Ganciclovir 5 mg/kg/dose twice daily for 14 days. Bone marrow aspiration (BMA) yielded a dry tap. Bone marrow biopsy (BMB) showed marked myelofibrosis with suppressed trilineage hematopoiesis. In view of persistent cytopenia and fever, a repeat BMA was done, revealing 22% blasts. Immunophenotyping by flow cytometry revealed 5.4% blasts with megakaryocytic differentiation. Subsequent cytogenetic analysis revealed Trisomy 8 and 19, with no evidence of Down syndrome. He was started on Down syndrome AML induction therapy followed by Cytarabine-Idarubicin-Etoposide therapy, but ultimately, he succumbed to infection and persistent disease. This case highlights the significance of looking for blasts even in a diluted marrow, so AMKL in a fibrotic marrow will not be missed.