Transient myelodysplastic syndrome in a newborn

Abstract

The article presents a unique case of a transient myelodysplastic syndrome characteristic of children with trisomy 21. This condition has non-specific clinical manifestations and a specific hematological picture similar to those of acute leukemia. The uniqueness of transient myelodysplastic syndrome lies in the spontaneous resolution within a few weeks or months after birth and/or the development of acute myeloid leukemia after spontaneous regression in the first 4–5 years of life. A prerequisite for the development of myelodysplastic syndrome is the presence of a blast clone of trisomy of the 21st chromosome and a mutation in the GATA1 gene in the cells.