Transient Abnormal Myelopoeisis and Mosaic Down Syndrome in a Phenotypically Normal Newborn

Zachary Prudowsky; HyoJeong Han; Alexandra Stevens

doi:10.3390/children7060052

Transient Abnormal Myelopoeisis and Mosaic Down Syndrome in a Phenotypically Normal Newborn

Children (Basel). 2020 May 28;7(6):52. doi: 10.3390/children7060052.

Authors

Zachary Prudowsky^{1

2}, HyoJeong Han^{1

2}, Alexandra Stevens^{1

2}

Affiliations

¹ Department of Hematology-Oncology, Texas Children's Hospital, Houston, TX 77030, USA.
² Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

Transient abnormal myelopoiesis (TAM) is a common and potentially fatal neonatal complication of newborn babies with Down syndrome (DS). Children born with mosaic DS are also at risk of developing TAM. However, due to their variable phenotypes, early identification of patients with mosaic DS may be difficult; thus, early diagnosis of TAM is just as challenging. In this report, we describe a case of a phenotypically normal newborn who presented with concerns for neonatal leukemia. The diagnosis of mosaic DS and TAM was confirmed with abnormal GATA1 mutation testing, highlighting the importance of early GATA1 mutation testing in newborn leukemia with high suspicion for TAM.

Keywords: GATA1; TAM; acute megakaryocytic leukemia (AMKL); down syndrome; mosaic down syndrome; transient myeloproliferative disease; trisomy 21.

Publication types

Case Reports