ABSTRACT
PURPOSE: CHARGE syndrome consists of multiple malformation including coloboma, heart defect, choanal atresia, growth or developmental retardation, genital anomalies, and ear anomalies. The aim of this study was to evaluate the respiratory problems in children with CHARGE syndrome. METHODS: Out of 9 patients with CHARGE syndrome, medical records from 8 patients showing respiratory distress or respiratory failure were retrospectively reviewed. We investigated the causes of respiratory problems by physical examination, endoscopy, echocardiogram, computed tomography, rigid bronchoscopy, swallowing test, and 24-hour impedence monitoring. RESULTS: Five patients required endotracheal intubation soon after birth due to bilateral choanal atresia (n=2) and congenital heart diseases (n=3). Three patients were intubated within a month because of surgery for complex heart diseases (n=2) or recurrent apnea (n=1). Tracheostomy was performed in 3 patients who showed primary or secondary subglottic stenosis. Among 8 patients who had aspiration or respiratory distress after feeding, cricopharyngeal incoordination and gastroesophageal reflux disease were found in 7 and 2 children, respectively. One patient died of aspiration during oral feeding. CONCLUSION: Patients with CHARGE syndrome manifest respiratory distress or failure due to various causes including congenital anomaly in the airway, cardiac anomaly, neurologic or gastrointestinal problems. Therefore, pediatricians should be alert to the respiratory symptoms and signs in CHARGE syndrome and take active intervention from the birth to improve their long-term prognosis.