Aikaterini K Dritsoula1, Mahilravi S Thevasagayam2. 1. Sheffield Children's Hospital (SCH), Western Bank, Sheffield S10 2TH, South Yorkshire, United Kingdom. Electronic address: mdritsoula@yahoo.gr. 2. Sheffield Children's Hospital (SCH), Western Bank, Sheffield S10 2TH, South Yorkshire, United Kingdom. Electronic address: ravitheva@yahoo.co.uk.
Abstract
IMPORTANCE: There 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. METHODS: A case of congenital aplasia of the epiglottis and a review of the literature of all the cases previously described is presented. OBSERVATIONS: A 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 RELEVANCE: Congenital 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.
IMPORTANCE: There 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. METHODS: A case of congenital aplasia of the epiglottis and a review of the literature of all the cases previously described is presented. OBSERVATIONS: A 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 RELEVANCE: Congenital 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.