Otolaryngology, Medical University of South Carolina, Charleston, South Carolina, USA
Otolaryngology, Medical University of South Carolina, Charleston, South Carolina, USA.
BMJ Case Rep. 2020 Nov 9;13(11):e237143. doi: 10.1136/bcr-2020-237143.
Congenital aplasia of the epiglottis is a rare condition with variable presentation ranging from respiratory distress requiring surgical airway to an asymptomatic finding. Epiglottic aplasia is presumed to be caused by arrest of development of laryngeal structures and is most commonly associated with syndromic conditions, though isolated episodes of aplasia of the epiglottis do exist. In this report, we present a term infant with multiple congenital anomalies who was noted to have a hoarse cry prompting laryngoscopy. This showed complete absence of the epiglottis. Subsequent genetic testing showed mutations in the CPLANE1 gene that is associated with Joubert syndrome. Our patient was able to be discharged home on a thickened formula diet and is eating and gaining weight appropriately. Here, we present a review of the currently available literature of other cases of congenital epiglottic aplasia or hypoplasia discussing the presentation, management and outcomes in these cases.
先天性会厌发育不全是一种罕见的疾病，其表现形式多种多样，从需要手术气道的呼吸窘迫到无症状发现。会厌发育不全被认为是喉结构发育停滞引起的，最常与综合征相关，但也存在孤立的会厌发育不全病例。在本报告中，我们介绍了一名患有多种先天性畸形的足月婴儿，其哭声嘶哑，促使进行喉镜检查。结果显示会厌完全缺失。随后的基因检测显示 CPLANE1 基因突变与杰特综合征相关。我们的患者能够出院回家，采用增稠配方奶，并适当进食和增重。在此，我们回顾了目前已有的其他先天性会厌发育不全或发育不良病例的文献，讨论了这些病例的表现、治疗和结局。
