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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...

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Detalles Bibliográficos
Autores principales: Thomas, Jamie, Butts, Taylor, Burtch, Jason, Smith, Natalie F, Kethireddy, Pooja, Gutwein, Jenny, Figallo-Cuenca, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
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.
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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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