Transient abnormal myelopoiesis at birth in an infant with Down syndrome: A unique entity

Abstract

Transient abnormal myelopoiesis (TAM) is a hematological disorder, which is rare but unique for children with Down syndrome. It is important to diagnose this entity, as these children are at 500 times higher risk for the development of acute myeloid leukemia (AML) later in life. We report a late-preterm, low birth weight, female baby born to a 35-year-old G 4 P 2 L 2 A 1 mother. The baby was diagnosed to have down's phenotype at birth. On the day one of life, the baby had leukocytosis with increased peripheral blast cells. On 23 rd day of life, there was a resolution of leukocytosis and the disappearance of blast cells. The child has been under regular follow-up since then. As these children are at a high risk for the development of AML in later life, a hemogram with total leukocyte counts and differential count should be a part of neonatal follow-up.

Transient abnormal myelopoiesis at birth with Down syndrome: A rare case report

“…Full trisomy 21(non-disjunction) account for 3.3%, and mosaicism accounts for the remaining 2.4% cases of Down syndrome [7] . The effect of trisomy 21 on liver hemopoiesis with megakaryocyte progenitor and common myeloid progenitor in DS maybe the cause for TAM [8] . The GATA1 gene are present on the X-chromosome encodes a hemopoietic transcription factor that is essential for normal megakaryopoiesis.…”