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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
Descripción
Sumario: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.