Transient myeloproliferative disorder: A pointer to underlying trisomy 21

A 19-day-old male neonate was presented with abdominal distension, refusal to feed, and high-grade fever, suggestive of late-onset sepsis. Apart from a suspected clinodactyly, no dysmorphism was present. The hemograms were suggestive of leukocytosis with 29% blasts and flow cytometry revealed acute myeloid leukemia. Due to the presence of congenital leukemia, the dysmorphism in the child was investigated and a karyotype revealed trisomy 21; a diagnosis of transient myeloproliferative disorder (TMD) was made. The child developed significant bleeding, impending congestive cardiac failure and significant weight loss, and prompting initiation of low-dose chemotherapy with cytarabine. The child improved following therapy but developed fungal sepsis and multiple joint osteomyelitis secondary to the chemotherapy-induced myelosuppression which was managed with antibiotics. The child was discharged and is on close 3 monthly follow-up to screen for acute megakaryoblastic leukemia, as babies with TMD are prone to developing acute megakaryoblastic leukemia in early childhood