J Korean Soc Neonatol.
2003 May;10(1):83-87.
Down Syndrome with Transient Myeloproliferative Disorder, Hepatic Fibrosis, and Hemochromatosis
- Affiliations
-
- 1Department of Pediatrics, Wonju Medical College, Yonsei University, Wonju, Korea. limbk@kornet.net
- 2Department of Laboratory Medicine, Wonju Medical College, Yonsei University, Wonju, Korea.
- 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- Transient myeloproliferative disorder (TMD), which may mimic acute leukemia, occurs in neonates with Down syndrome along with hepatic fibrosis. TMD is recognized shortly after birth or in the neonatal period and is characterized by leukocytosis and thrombocytopenia, which resolve spontaneously in four to six weeks. And hepatic fibrosis is characterized by diffuse intralobular sinusoidal fibrosis, extramedullary hematopoiesis and hemochromatosis. A newborn male infant with Down syndrome, atrial septal defect and ventricular septal defect is reported. He showed abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Knowing the cellular mechanism of hepatic fibrosis and its modulation by growth factors, a pathogenetic link between transient myeloproliferative disorder and the development of liver fibrosis in Down syndrome neonates, association of this triad no longer appears to be accidental.