Hepatic fibrosis in a twin with Down syndrome with transient abnormal myelopoiesis : a possible association with the activation of hepatic stellate cells

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Down syndrome is occasionally accompanied with a leukemoid reaction, known as a transient abnormal myelopoiesis (TAM). Although TAM itself exhibits a spontaneous regression, the presence of hepatic fibrosis associated with the TAM causes a poor outcome due to severe hepatic insufficiency. Here we discuss twin neonates with Down syndrome, one with severe hepatic fibrosis associated with TAM. The mother was 33 years old with no previous illness. At 33 weeks of gestation, twin male neonates were delivered by cesarean section, because of fetal hydrops. We discovered that both neonates were trisomic, exhibiting trisomy 21, which result in Down syndrome. On Day 24 after birth, the second neonate died due to severe hepatorenal failure. In the autopsy, markedly increased fibrous components were predominantly observed in perisinusoidal regions of the liver resembling pericellular fibrosis. Proliferation and activation of hepatic stellate cells expressing a-smooth muscle actin (SMA) but not glial fibrillary acid protein (GFAP), as well as infiltration of megakaryocytes, were also evident in such fibrous lesions. Moreover, residual hepatocytes showed severe iron deposition. Similar findings were also observed in pancreas tissue. On Day 28 the first neonate also died due to severe hepatorenal failures, however an autopsy was not allowed. These result suggest a possible association between hepatic fibrosis and TAM in Down syndrome.
2007-03-31