Abstract：
Trisomy 21 (Down Syndrome) may lead to multiple hematological and hepatobiliary manifestations including the development of transient abnormal myelopoiesis. While many cases resolve, transient abnormal myelopoiesis may lead to significant morbidity and mortality in a small percentage of patients. This condition may present a diagnostic challenge for physicians and currently there is only limited data on effective treatments, particularly with low blast percent transient abnormal myelopoiesis. We present a case of a neonate with trisomy 21 and multiple congenital anomalies who consequently developed hepatic failure with evidence of non-cirrhotic portal hypertension likely due to transient abnormal myelopoiesis. This clinical scenario highlights the need for additional evaluation for transient abnormal myelopoiesis associated hepatic disorder and possibly hepatic sinusoidal occlusive syndrome among trisomy 21 neonates particularly with low blast percentage.
摘要：
21三体(唐氏综合征)可导致多种血液学和肝胆表现,包括短暂异常骨髓生成的发展。虽然许多案件解决了，短暂性骨髓生成异常可能导致一小部分患者的显著发病率和死亡率.这种情况可能给医生带来诊断挑战，目前关于有效治疗的数据有限。特别是低胚细胞百分比的短暂性异常骨髓生成。我们介绍了一例21三体和多种先天性异常的新生儿，因此出现肝衰竭，并有可能是由于短暂性骨髓异常生成导致的非肝硬化门脉高压的证据。这种临床情况突出表明，在21三体综合征的新生儿中，需要对短暂性骨髓生成异常相关的肝脏疾病和可能的肝窦闭塞综合征进行额外评估，尤其是低爆炸百分比的新生儿。
