Prudowsky Zachary, Han HyoJeong, Stevens Alexandra
Department of Hematology-Oncology, Texas Children's Hospital, Houston, TX 77030, USA.
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Children (Basel). 2020 May 28;7(6):52. doi: 10.3390/children7060052.
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 mutation testing, highlighting the importance of early mutation testing in newborn leukemia with high suspicion for TAM.
短暂性异常髓系造血（TAM）是唐氏综合征（DS）新生儿常见且可能致命的并发症。患有嵌合型DS的新生儿也有发生TAM的风险。然而，由于其表型各异，早期识别嵌合型DS患者可能较为困难；因此，TAM的早期诊断同样具有挑战性。在本报告中，我们描述了一例表型正常的新生儿，其因疑似新生儿白血病前来就诊。通过异常突变检测确诊为嵌合型DS和TAM，突出了对高度怀疑TAM的新生儿白血病进行早期突变检测的重要性。
