Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder

@article{Gamis2012TransientMD,
  title={Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder},
  author={Alan S. Gamis and Franklin O. Smith},
  journal={British Journal of Haematology},
  year={2012},
  volume={159}
}
  • A. Gamis, F. Smith
  • Published 1 November 2012
  • Medicine
  • British Journal of Haematology
Children with trisomy 21 have a unique predisposition to develop a megakaryoblastic proliferative disease of varying severity during their first 3 months of life. This disorder exists in no other children or adults without the presence of trisomy 21 and only occurs in the fetal or neonatal period of life. Its spontaneous resolution in most cases further delineates it from otherwise indistinguishable neonatal leukaemias. The identification that GATA1 mutations are the leukaemogenic source along… 
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Transient Myeloproliferative Disorder in Neonates with Down syndrome: Case Report and Review
TLDR
This is the report of a preterm newborn with Down syndrome diagnosed with TMD that required chemotherapy on the first days of life due to a poor clinical course and other risk factors for early death.
Perinatal Transient Myeloproliferative Disorder in Trisomy 21
Transient myeloproliferative disorder (TMD), also known as transient acute myelopoiesis, is a myeloproliferative condition that occurs in the perinatal period in up to 10% of patients who have Down…
Transient Myeloproliferative Disorder: An Update for Neonatal Nurses
Down syndrome (DS) is a well-known genetic disorder that affects 700–1,000 infants per year. One particular comorbidity of DS is transient myeloproliferative disorder (TMD), a disease characterized…
Transient Abnormal Myelopoiesis: A Varied Spectrum of Clinical Presentation
TLDR
Three cases of TMD having different clinical presentation, course, complications and outcome are described; all but one had Down’s phenotype; one of them had a severe disease with tumor lysis syndrome and died of liver failure, while the other one had pericardial effusion and cardiac failure but survived.
Presentation of Acute Megakaryoblastic Leukemia Associated with a GATA‐1 Mutation Mimicking the Eruption of Transient Myeloproliferative Disorder
TLDR
This is the first reported case of a cutaneous eruption in a young child with Down syndrome and transformed AMKL, and when children with trisomy 21 present with the acute onset of crusted papules and vesicles that cannot be accounted for by an infectious etiology, a diagnosis ofAMKL should be considered even in the absence of a history of TMD.
An Instructive Case of Transient Myeloproliferative Disorder
TLDR
A neonate with idiopathic hydrops where finding a leukemoid reaction prompted an emergent double-volume exchange transfusion, which was followed by signs of improved perfusion, and it also prompted ordering a rapid aneuploidy fluorescence in situ hybridization (FISH), which led to a diagnosis of trisomy 21.
Myeloid proliferations associated with Down syndrome
  • A. Cantor
  • Medicine
    Journal of Hematopathology
  • 2014
TLDR
The molecular basis for DS-TAM/ML-DS remained mysterious for a long period of time, but new genetic insights have been gained over the past 12 years that have begun to decipher the pathophysiology of this unusual disorder.
Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome
  • Kenichiro Watanabe
  • Medicine
    Pediatrics international : official journal of the Japan Pediatric Society
  • 2019
TLDR
Investigation of TAM, a unique pre‐leukemic condition, will continue to strongly influence basic and clinical research into the development of hematological malignancies.
Neonatal vesiculopustular eruption in Down syndrome and transient myeloproliferative disorder: A case report and review of the literature
TLDR
The case of a male infant with DS and TMD, associated with a vesiculopustular eruption, which appeared on day 36 of life is described.
A Novel GATA-1 Mutation in a Neonate with Transient Abnormal Myelopoiesis without Down Syndrome
TLDR
A case of TAM with a novel mutation in the GATA-1 gene, involving a newborn boy found to have leukocytosis with 50% myeloid blast forms, implying premature termination is reported.
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