Down Syndrome with Transient Myeloproliferative Disorder, Hepatic Fibrosis, and Hemochromatosis.
- Author:
Jie Yeon LEE
1
;
Hwi Kyu IM
;
Hwang Min KIM
;
Baek Keun LIM
;
Young UH
;
Chan Il PARK
Author Information
1. Department of Pediatrics, Wonju Medical College, Yonsei University, Wonju, Korea. limbk@kornet.net
- Publication Type:Case Report
- Keywords:
Down syndrome;
Transient myeloproliferative disorder;
Hepatic fibrosis;
Hemochromatosis
- MeSH:
Down Syndrome*;
Fibrosis*;
Heart Septal Defects, Atrial;
Heart Septal Defects, Ventricular;
Hematopoiesis, Extramedullary;
Hemochromatosis*;
Humans;
Infant;
Infant, Newborn;
Intercellular Signaling Peptides and Proteins;
Leukemia;
Leukocytosis;
Liver Cirrhosis;
Male;
Myelopoiesis;
Myeloproliferative Disorders*;
Parturition;
Thrombocytopenia
- From:Journal of the Korean Society of Neonatology
2003;10(1):83-87
- CountryRepublic of Korea
- Language:Korean
-
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.
