Abstract Introduction Tracheobronchomalacia (TBM) is the most common congenital tracheal anomaly, affecting about 1 in 2,100 children. It results from weakness of the tracheal and bronchial walls, leading to dynamic airway collapse. Familial TBM is rare, though genetic predisposition has been reported. We report a neonate with severe TBM with a paternal history of tracheomalacia requiring surgical reconstruction. Case Report A 19-day-old male born full term, presented with noisy breathing and increased work of breathing since birth. Episodes were characterized by intense crying, gasping and accessory muscle use, primarily triggered by agitation. In the emergency room noted to have desaturations to the low 80s during these episodes and was admitted for workup.Computed tomography of the chest with angiography showed focal narrowing of the thoracic trachea consistent with tracheomalacia and complete collapse of the left mainstem bronchus, suggesting bronchomalacia, without vascular ring or external compression. Bronchoscopy revealed severe tracheomalacia (90% collapse) from the upper trachea to the carina (non-pulsatile) and bilateral bronchomalacia (LR) with significant secretions. The father had a history tracheomalacia in infancy requiring tracheostomy and laryngeal reconstruction at 2 years of age. Whole-exome sequencing in the infant was negative for pathogenic variants associated with WNT signaling (SHH, PERLECAN, WLS, ROR2).Non-invasive positive pressure ventilation was initiated, progressing from high-flow nasal cannula (HFNC) to continuous positive airway pressure (CPAP). Marked improvement in oxygenation and distress was noted with CPAP 8 cm H2O, FiO2 21%. The nasal interface of HFNC was used to deliver CPAP via Astral ventilator. Bethanechol was started to enhance airway tone, and a gastrostomy G-tube was placed for safe feeding. Follow-up bronchoscopy 5 months later demonstrated improvement in malacia (70% collapse) with CPAP of 8 cm H2O. Over the course of 11 months, he was gradually weaned to nocturnal CPAP only. Polysomnography at 2 years of age showed mild obstructive sleep apnea (OSA) with OAHI 2.2/hr and SpO2 nadir 88% on room air improving to OAHI 1.9/hr on CPAP 5 cm H2O. The patient is now 3 years old and tolerates full oral feeds, discontinued G-tube, and maintains appropriate growth on nighttime CPAP 5 cm H2O. Novelty This case highlights successful non-surgical management of severe congenital TBM using non-invasive ventilation alone to prevent severe airway collapse. Few neonatal cases demonstrating long-term improvement without tracheostomy have been reported. Early diagnosis with inpatient trial of non-invasive ventilation with appropriate interface, are essential for optimizing outcomes in severe TBM. This abstract is funded by: None
Balusu et al. (Fri,) studied this question.