Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome.
Journal
Case reports in pediatrics
ISSN: 2090-6803
Titre abrégé: Case Rep Pediatr
Pays: United States
ID NLM: 101581030
Informations de publication
Date de publication:
2023
2023
Historique:
received:
11
09
2021
revised:
11
10
2022
accepted:
20
01
2023
medline:
14
5
2023
pubmed:
14
5
2023
entrez:
14
5
2023
Statut:
epublish
Résumé
The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction. The relative pathophysiological contributions of an inherent cartilage processing defect versus a mismatch in longitudinal growth between the trachea and the thoracic cage are currently a subject of debate. Enzyme replacement therapy (ERT) and multidisciplinary management continue to improve life expectancy for Morquio A patients by slowing many of the multisystem pathological consequences of the disease but are not as effective at reversing established pathology. An urgent need has developed to consider alternatives to palliation of progressive tracheal obstruction to preserve and maintain these patients' hard-won good quality of life, as well as to facilitate spinal and other required surgery. This addressing of tracheal/thoracic cage dimension mismatch represents a novel surgical treatment approach to an existing clinical paradigm and may be useful for other carefully selected individuals with MPS IVA. Further work is needed to better understand the role and optimal timing of tracheal resection within this patient cohort so as to individually balance considerable surgical and anaesthetic risks against the potential symptomatic and life expectancy benefits.
Identifiants
pubmed: 37180285
doi: 10.1155/2023/7976780
pmc: PMC10171972
doi:
Types de publication
Case Reports
Langues
eng
Pagination
7976780Informations de copyright
Copyright © 2023 Claire Frauenfelder et al.
Déclaration de conflit d'intérêts
The authors declare that have no conflicts of interest.
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