Improving circulatory disturbance in transient abnormal myelopoiesis

J Pediatr Hematol Oncol. 2012 May;34(4):e149-51. doi: 10.1097/MPH.0b013e31822bf608.

Abstract

Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) is characterized by circulating blast cells in the blood. TAM usually resolves spontaneously, but several studies have associated this condition with early death, focusing on the development of effective treatments. We report the case of a neonate with DS who had TAM and novel GATA1 mutation. Although the patient eventually died of hepatic failure, exchange blood transfusion and low-dose cytarabine treatment dramatically improved pulmonary hypertension and acute renal failure refractory to conventional therapy. Such a blast-reducing approach might be useful for improving circulatory disturbances in neonates with DS and TAM.

Publication types

  • Case Reports

MeSH terms

  • Antimetabolites, Antineoplastic / administration & dosage*
  • Blood Transfusion*
  • Cytarabine / administration & dosage*
  • Down Syndrome / complications
  • Down Syndrome / genetics
  • Down Syndrome / therapy*
  • Fatal Outcome
  • GATA1 Transcription Factor / genetics
  • Humans
  • Hypertension, Pulmonary / complications
  • Hypertension, Pulmonary / genetics
  • Hypertension, Pulmonary / therapy
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics
  • Infant, Newborn, Diseases / therapy*
  • Liver Failure / complications
  • Liver Failure / genetics
  • Liver Failure / therapy*
  • Male
  • Mutation
  • Myelopoiesis*
  • Renal Insufficiency / complications
  • Renal Insufficiency / genetics
  • Renal Insufficiency / therapy

Substances

  • Antimetabolites, Antineoplastic
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Cytarabine