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Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 (6/7) week...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical Publishers, Inc.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8221836/ https://www.ncbi.nlm.nih.gov/pubmed/34178423 http://dx.doi.org/10.1055/s-0041-1728782 |
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author | Akuamoah-Boateng, Gloria Stetson, Raymond C. Kaemingk, Bethany D. Bieber, David A. Brumbaugh, Jane E. |
author_facet | Akuamoah-Boateng, Gloria Stetson, Raymond C. Kaemingk, Bethany D. Bieber, David A. Brumbaugh, Jane E. |
author_sort | Akuamoah-Boateng, Gloria |
collection | PubMed |
description | Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 (6/7) weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure. |
format | Online Article Text |
id | pubmed-8221836 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Thieme Medical Publishers, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82218362021-06-24 Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant Akuamoah-Boateng, Gloria Stetson, Raymond C. Kaemingk, Bethany D. Bieber, David A. Brumbaugh, Jane E. AJP Rep Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 (6/7) weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure. Thieme Medical Publishers, Inc. 2021-04 2021-06-23 /pmc/articles/PMC8221836/ /pubmed/34178423 http://dx.doi.org/10.1055/s-0041-1728782 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited. |
spellingShingle | Akuamoah-Boateng, Gloria Stetson, Raymond C. Kaemingk, Bethany D. Bieber, David A. Brumbaugh, Jane E. Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title | Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title_full | Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title_fullStr | Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title_full_unstemmed | Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title_short | Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant |
title_sort | profound hypotonia and respiratory failure due to suspected nemaline myopathy in a preterm infant |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8221836/ https://www.ncbi.nlm.nih.gov/pubmed/34178423 http://dx.doi.org/10.1055/s-0041-1728782 |
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