J Korean Soc Neonatol.  2003 May;10(1):78-82.

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

• Lee KH
• Park BS
• Jeong EH
• Son BR
• Kim MK
• Lim SW
• Park HJ

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.

Keyword

Transient myeloproliferative disorder; Down syndrome; Hepatosplenomegaly; Prenatal sonography

MeSH Terms

Anemia
Diagnosis
Down Syndrome*
Hemorrhage
Humans
Incidence
Infant
Infant, Newborn
Leukemia
Leukemia, Megakaryoblastic, Acute
Liver
Lymphatic Diseases
Myeloproliferative Disorders*