Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn
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...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-05-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/7/6/52 |
| _version_ | 1797566807364599808 |
|---|---|
| author | Zachary Prudowsky HyoJeong Han Alexandra Stevens |
| author_facet | Zachary Prudowsky HyoJeong Han Alexandra Stevens |
| author_sort | Zachary Prudowsky |
| collection | DOAJ |
| description | 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 <i>GATA1</i> mutation testing, highlighting the importance of early <i>GATA1</i> mutation testing in newborn leukemia with high suspicion for TAM. |
| first_indexed | 2024-03-10T19:32:35Z |
| format | Article |
| id | doaj.art-510f7a649a7d41ddb86ac29028e5a922 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T19:32:35Z |
| publishDate | 2020-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-510f7a649a7d41ddb86ac29028e5a9222023-11-20T02:01:34ZengMDPI AGChildren2227-90672020-05-01765210.3390/children7060052Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal NewbornZachary Prudowsky0HyoJeong Han1Alexandra Stevens2Department of Hematology-Oncology, Texas Children’s Hospital, Houston, TX 77030, USADepartment of Hematology-Oncology, Texas Children’s Hospital, Houston, TX 77030, USADepartment of Hematology-Oncology, Texas Children’s Hospital, Houston, TX 77030, USATransient 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 <i>GATA1</i> mutation testing, highlighting the importance of early <i>GATA1</i> mutation testing in newborn leukemia with high suspicion for TAM.https://www.mdpi.com/2227-9067/7/6/52TAMtransient myeloproliferative diseasetrisomy 21down syndromemosaic down syndrome<i>GATA1</i> |
| spellingShingle | Zachary Prudowsky HyoJeong Han Alexandra Stevens Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn Children TAM transient myeloproliferative disease trisomy 21 down syndrome mosaic down syndrome <i>GATA1</i> |
| title | Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn |
| title_full | Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn |
| title_fullStr | Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn |
| title_full_unstemmed | Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn |
| title_short | Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn |
| title_sort | transient abnormal myelopoeisis and mosaic down syndrome in a phenotypically normal newborn |
| topic | TAM transient myeloproliferative disease trisomy 21 down syndrome mosaic down syndrome <i>GATA1</i> |
| url | https://www.mdpi.com/2227-9067/7/6/52 |
| work_keys_str_mv | AT zacharyprudowsky transientabnormalmyelopoeisisandmosaicdownsyndromeinaphenotypicallynormalnewborn AT hyojeonghan transientabnormalmyelopoeisisandmosaicdownsyndromeinaphenotypicallynormalnewborn AT alexandrastevens transientabnormalmyelopoeisisandmosaicdownsyndromeinaphenotypicallynormalnewborn |