Journal of the Korean Society of Neonatology  2003;10(1):78-82

A Case of Transient Myeloproliferative Disorder with Down Syndrome, Presented Hepatosplenomegaly on Prenatal Sonography.

Keun Hye LEE 1 ; Beom Su PARK ; Eun Hwan JEONG ; Bo Ra SON ; Mi Kyeong KIM ; Seung Woon LIM ; Hyeon Jin PARK

Affiliations

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Keywords

Transient myeloproliferative disorder; Down syndrome; Hepatosplenomegaly; Prenatal sonography

Country

Republic of Korea

Language

Korean

Abstract

Down syndrome (DS) is associated with a higher incidence of leukemia than general population; the subtype is acute megakaryoblastic leukemia (AMKL) in 50% of cases. DS is also strongly associated with transient myeloproliferative disorder (TMD), which is usually diagnosed during newborns and infants. Due to its difficulty in distinguishing TMD from acute leukemia (AL), the diagnosis of TMD should be made with extreme caution. Unlike AL, most cases of TMD resolve spontaneously within 3 months; blast cells disappear within 8 weeks in 80% and within 10 weeks in 90% of the surviving patients. Some infants with TMD, however, may have a severe complication leading into life-threatening clinical course with hepatosplenomegaly, lymphadenopathy, liver impairment, respiratory distress, anemia, infection and hemorrhage. Rarely, AL can develop after remission of TMD. We report a case of TMD with DS in newly born infant who presented hepatosplenomegaly on prenatal sonography and improved with exchange transfusion, steroid.