Transient Myeloproliferative Disorder: A Case Report of a Newborn with Down Syndrome
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Keywords:
Neonatal İntensive Care Unit, Transient Myeloproliferative Disorder, Down Syndrome, Leukocytosis, ThrombocytopeniaAbstract
This paper presents a case of transient myeloproliferative disorder (TMD) diagnosed in a
newborn with Down syndrome. The patient, born at 37+3 weeks of gestation, was diagnosed with Down
syndrome and transient myeloproliferative disorder (TMD). TMD is a hematological condition
characterized by an increase in myeloid blasts in peripheral blood, observed in approximately 10% of
newborns with Down syndrome. This article presents the clinical, laboratory, and imaging findings of the
case, discusses the natural course of TMD, and addresses current treatment approaches in its
management.
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References
Roy A, Roberts I, Vyas P. Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med. 2012 Aug;17(4):196-201. doi: 10.1016/j.siny.2012.02.010. Epub 2012 Mar 14. PMID: 22421527.
Reinhardt D, Reinhardt K, Neuhoff C, et al. GATA1-mutation associated leukemia in children with trisomy 21 mosaic. Klin Padiatr. 2012 Apr;224(3):153-5. doi: 10.1055/s-0032-1308988. Epub 2012 Apr 18. PMID: 22513796.
Klusmann JH, Creutzig U, Zimmermann M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008 Mar 15;111(6):2991-8. doi: 10.1182/blood-2007-10-118810. Epub 2008 Jan 8. PMID: 18182574; PMCID: PMC2265448.
Klusmann JH, Creutzig U, Zimmermann M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008 Mar 15;111(6):2991-8. doi: 10.1182/blood-2007-10-118810. Epub 2008 Jan 8. PMID: 18182574; PMCID: PMC2265448.
Mishra P, Fajrudheen M, Sahoo T, et al. Transient Abnormal Myelopoiesis: An Abnormal Course and the Efficacy of Delayed Treatment. Cureus. 2024 Feb 14;16(2):e54219. doi: 10.7759/cureus.54219. PMID: 38496060; PMCID: PMC10943260.
Yoshida K, Toki T, Okuno Y, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013 Nov;45(11):1293-9. doi: 10.1038/ng.2759. Epub 2013 Sep 22. PMID: 24056718.
Mizuta S, Yamane N, Mononobe S, et al. Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with Down syndrome. Int J Lab Hematol. 2022 Apr;44(2):349-355. doi: 10.1111/ijlh.13756. Epub 2021 Nov 10. PMID: 34761527.
Mason NR, Cahill H, Diamond Y, et al. Down syndrome-associated leukaemias: current evidence and challenges. Ther Adv Hematol. 2024 Jul 23;15:20406207241257901. doi: 10.1177/20406207241257901. PMID: 39050114; PMCID: PMC11268035.
