Neonatal stridor presents at home – vocal fold paralysis as rare presenting feature of CHARGE syndrome

Abstract Objectives To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature. Case A four-day old, full-term, male infant born via uncomplicated vaginal delivery nursery course significant for failed hearing screen presented to emergency department (ED) respiratory distress worsening stridor. He was transferred level III neonatal intensive care unit (NICU) further evaluation required intubation due progressive hypercarbia. Laryngoscopy revealed left-sided unilateral paralysis (VFP). underwent that included normal MRI brain, neck chest. Genetics consulted concern dysmorphic features on physical exam. Following gene panel testing, VFP attributed known association syndrome. Airway edema noted laryngoscopy prevented extubation until two months age. Further identified colobomas, glaucoma, sensorineural loss, genital abnormalities. discharged in room air following gastrostomy tube placement otolaryngology follow up. Conclusions Although choanal abnormalities are classically syndrome, other upper airway anomalies such may be present. is reported anomaly (Naito Y, Higuchi M, Koinuma G, Aramaki Takahashi T, Kosaki K. Upper obstruction neonates infants Am J Med Genet 2007;143A:1815–20; Morgan D, Bailey Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat association. Arch Otolaryngol Head Neck Surg 1993;119:49–54).