Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

A 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Additional findings of hypersplenism prompted a comprehensive mul...

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Bibliographic Details
Main Authors: Sarah Householder, Ruchit Nagar, Nisarg Shah, Jodi Forward, Sean Bickerton, Pramod Mistry, E. Vincent S. Faustino
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Pediatrics
Subjects:
Gaucher disease
stridor
pediatric ARDS
gene replacement therapy
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1476541/full
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