Transient Abnormal Myelopoeisis and Mosaic Down Syndrome in a Phenotypically Normal Newborn.
GATA1
TAM
acute megakaryocytic leukemia (AMKL)
down syndrome
mosaic down syndrome
transient myeloproliferative disease
trisomy 21
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
28 May 2020
28 May 2020
Historique:
received:
15
04
2020
revised:
18
05
2020
accepted:
26
05
2020
entrez:
3
6
2020
pubmed:
3
6
2020
medline:
3
6
2020
Statut:
epublish
Résumé
Transient abnormal myelopoiesis (TAM) is a common and potentially fatal neonatal complication of newborn babies with Down syndrome (DS). Children born with mosaic DS are also at risk of developing TAM. However, due to their variable phenotypes, early identification of patients with mosaic DS may be difficult; thus, early diagnosis of TAM is just as challenging. In this report, we describe a case of a phenotypically normal newborn who presented with concerns for neonatal leukemia. The diagnosis of mosaic DS and TAM was confirmed with abnormal
Identifiants
pubmed: 32481622
pii: children7060052
doi: 10.3390/children7060052
pmc: PMC7346181
pii:
doi:
Types de publication
Case Reports
Langues
eng
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