Congenital aplasia/hypoplasia of the Epiglottis—A case report and a review of the literature

ImportanceThere are two clinically significant congenital anomalies of the epiglottis, aplasia and hypoplasia. Early mortality in aplasia is significantly higher than in hypoplasia. Early aggressive intervention may improve outcomes. An approach to diagnosis, treatment and outcomes is discussed.MethodsA case of congenital aplasia of the epiglottis and a review of the literature of all the cases previously described is presented.ObservationsA male newborn underwent microlaryngotracheobronchoscopy (MLTB) due to stridor and difficulty in establishing oral feeds and was diagnosed with congenital aplasia of the epiglottis. He has not required tracheostomy and at 11 months of follow-up is gastrostomy fed and thriving. 9 cases of aplasia and 19 cases of hypoplasia have been described previously. The difference between aplasia and hypoplasia is established based on the clinical appearance at endoscopic examination.Conclusions and relevanceCongenital aplasia and hypoplasia of the epiglottis are rare congenital laryngeal anomalies and the majority are associated with a syndrome. Early diagnosis and management in the form of fundoplication/gastrostomy and tracheotomy when required may improve outcomes.