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Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes
Although acute respiratory infections or diseases such as asthma commonly cause respiratory distress in a pediatric patient, neuromuscular disorders must be considered as a possible etiology in patients with significant hypotonia, neurological deficits, and gross developmental delay. We present a ca...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581109/ https://www.ncbi.nlm.nih.gov/pubmed/36277534 http://dx.doi.org/10.7759/cureus.29335 |
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author | Thomas, Jamie Butts, Taylor Burtch, Jason Smith, Natalie F Kethireddy, Pooja Gutwein, Jenny Figallo-Cuenca, Cristina |
author_facet | Thomas, Jamie Butts, Taylor Burtch, Jason Smith, Natalie F Kethireddy, Pooja Gutwein, Jenny Figallo-Cuenca, Cristina |
author_sort | Thomas, Jamie |
collection | PubMed |
description | Although acute respiratory infections or diseases such as asthma commonly cause respiratory distress in a pediatric patient, neuromuscular disorders must be considered as a possible etiology in patients with significant hypotonia, neurological deficits, and gross developmental delay. We present a case where a patient’s lack of response to initial asthma exacerbation therapy led to a reconsideration of the original diagnosis and adaptation of the management plan. Our patient presented with a rare combination of two congenital disorders that cause hypotonia: Prader-Willi syndrome and Moebius syndrome. This case underlines the importance of considering atypical etiologies in pediatric patients with respiratory distress, while also illustrating the effectiveness of the atypical use of Dornase alfa in a patient with underlying neuromuscular disorders. |
format | Online Article Text |
id | pubmed-9581109 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-95811092022-10-21 Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes Thomas, Jamie Butts, Taylor Burtch, Jason Smith, Natalie F Kethireddy, Pooja Gutwein, Jenny Figallo-Cuenca, Cristina Cureus Neurology Although acute respiratory infections or diseases such as asthma commonly cause respiratory distress in a pediatric patient, neuromuscular disorders must be considered as a possible etiology in patients with significant hypotonia, neurological deficits, and gross developmental delay. We present a case where a patient’s lack of response to initial asthma exacerbation therapy led to a reconsideration of the original diagnosis and adaptation of the management plan. Our patient presented with a rare combination of two congenital disorders that cause hypotonia: Prader-Willi syndrome and Moebius syndrome. This case underlines the importance of considering atypical etiologies in pediatric patients with respiratory distress, while also illustrating the effectiveness of the atypical use of Dornase alfa in a patient with underlying neuromuscular disorders. Cureus 2022-09-19 /pmc/articles/PMC9581109/ /pubmed/36277534 http://dx.doi.org/10.7759/cureus.29335 Text en Copyright © 2022, Thomas et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Neurology Thomas, Jamie Butts, Taylor Burtch, Jason Smith, Natalie F Kethireddy, Pooja Gutwein, Jenny Figallo-Cuenca, Cristina Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title | Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title_full | Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title_fullStr | Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title_full_unstemmed | Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title_short | Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes |
title_sort | acute respiratory distress in a pediatric patient with prader-willi and moebius syndromes |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581109/ https://www.ncbi.nlm.nih.gov/pubmed/36277534 http://dx.doi.org/10.7759/cureus.29335 |
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