C62-29 Home Use of High Flow Nasal Cannula in an Infant With Surfactant Protein C Deficiency

Abstract Introduction Surfactant protein deficiency (SPD) refers to a group of genetic mutations that impair the synthesis, secretion, or function of surfactant proteins essential for pulmonary function. Among these, Surfactant Protein C deficiency (SPD-C) can present with tachypnea, hypoxemia, and failure to thrive. Computed tomography (CT) scans commonly reveal patchy ground-glass opacities or reticular patterns. As with other chronic lung diseases, optimizing oxygenation and nutrition is critical in lung development. Patients often require prolonged invasive ventilation and hospitalization, leading to delayed neurodevelopment, high healthcare costs, and complex medical care needs for families. We present the first documented case of safe and effective use of high-flow nasal cannula (HFNC) in the home setting for an infant with SPD-C. Case Presentation A 13-day-old, full-term female infant presented to the emergency department with feeding difficulties, tachypnea, and hypoxia. Initial infectious workup and swallow evaluation were unrevealing, and the infant had improvement of respiratory status with supplemental oxygen. Her chest X-ray was normal; however, due to the unclear etiology of hypoxemia and persistent tachypnea, CT imaging was performed and demonstrated faint perihilar ground glass opacities. Genetic testing was pursued and revealed an autosomal dominant pathogenic variant in SFTPC c.548GA, p Cys183Tyr, consistent with SPD-C. The patient was initiated on pulse dose steroids, hydroxychloroquine, and azithromycin. Her hospital course was complicated by multiple intensive care unit admissions for tachypnea and desaturations requiring HFNC. Although tracheostomy was discussed extensively with the family to expedite a safe discharge home and allow participation in more developmentally appropriate activities, they declined surgical intervention. A gastrojejunostomy tube was placed to support supplemental feeding. She was ultimately stabilized on 10L HFNC with an FiO2 requirement of 35% and was able to be discharged home at 7 months old. With continued treatment and frequent follow-up visits, she successfully weaned to low flow nasal cannula by 15 months of age. Conclusions This patient’s clinical course featured several unique aspects, including relatively mild initial symptoms of SPD, non-classical radiographic findings, and the successful use of HFNC in the home setting while avoiding the need for tracheostomy. Her imaging findings and clinical presentation highlight the heterogeneity of this disorder, and genetic testing was crucial to making a diagnosis quickly so that appropriate treatment could be initiated. Although substantial evidence on the treatment of this condition remains limited, early detection and considering non-invasive ventilation methods for support are important to provide optimal care to these patients. This abstract is funded by: None