Severe PARDS in an Infant with a Rare FARSA Mutation Treated with Bronchoscopic Segmental Insufflation and Surfactant Therapy

Abstract

Introduction: Pediatric Acute Respiratory Distress Syndrome (PARDS) is a life-threatening condition characterized by severe hypoxemic respiratory failure and lung inflammation. The pathophysiology involves surfactant inactivation and deficiency, leading to decreased lung compliance. Traditional endotracheal surfactant administration often yields inconsistent results due to inhomogeneous distribution. This case report evaluates the efficacy of bronchoscopic segmental insufflation and surfactant therapy in a patient with severe PARDS and a rare genetic mutation.
Methods: A 4-month-old female infant with severe PARDS (oxygen saturation index [OSI]: 25), growth failure, and chronic diarrhea was admitted. Due to refractory hypoxemia despite optimized ventilation (FiO₂: 100%, PIP: 35 cmH₂O, SIMV ventilation mode), a bronchoscopic intervention was performed. The procedure involved the removal of mucopurulent secretions and the administration of a total surfactant dose of 200 mg/kg (poractant alfa). The surfactant was delivered to each lobe separately using a "wedge" position, followed by pressure-controlled insufflation (30 cmH₂O for 30 seconds per segment, consisting of one initial insufflation, followed by surfactant instillation and two additional insufflation cycles) to optimize distribution.
Results: Marked clinical improvement was observed following the bronchoscopic intervention: PIP decreased from 35 to 21 cmH₂O, and OSI improved from 25 to 8. Oxygen saturation rose from 88% to 95% despite lower ventilator settings. A second identical procedure was performed two weeks later due to persistent mucus plugging and the patient was successfully extubated three days thereafter. Whole Exome Sequencing (WES) ultimately identified a homozygous c.883C>T mutation in the FARSA gene, confirming a diagnosis of Rajab interstitial lung disease.
Conclusion: Bronchoscopic segmental insufflation combined with surfactant instillation may be considered as a potential adjunctive strategy in selected cases of severe PARDS refractory to conventional management. This technique allows targeted delivery to affected lung regions, facilitates airway secretion clearance, and provides additional diagnostic utility through bronchoalveolar lavage.