以分泌性中耳炎为首发症状的歌舞伎综合征诊断学特征并文献复习  

Diagnostic features of Kabuki syndrome with otitis media with effusion as the first symptom and literature review

作　　者：刘敏[1] 张敏[1] 王彦云[2] 孟黎平[1] 季慧[1] 洪琴[1] Liu Min;Zhang Min;Wang Yanyun;Meng Liping;Ji Hui;Hong Qin(Department of Child Health Care,Women′s Hospital of Nanjing Medical University,Nanjing 210004,China;Center of Genetic Medicine,Women′s Hospital of Nanjing Medical University,Nanjing 210004,China)

机构地区：[1]南京医科大学附属妇产医院儿童保健科,210004 [2]南京医科大学附属妇产医院遗传医学中心,210004

出　　处：《中华诊断学电子杂志》2021年第3期197-201,共5页Chinese Journal of Diagnostics(Electronic Edition)

基　　金：国家重点研发计划项目(2018YFC1002400);江苏省科教强卫工程青年医学人才项目(QNRC2016100);江苏省第十五批“六大人才高峰”高层次人才项目(WSW-125);江苏省妇幼健康科研项目(F202017)。

摘　　要：目的探讨以分泌性中耳炎为首发症状的歌舞伎综合征诊断学特征。方法回顾性分析2019年8月南京医科大学附属妇产医院儿童耳鼻咽喉科收治的1例以分泌性中耳炎为首发症状的歌舞伎综合征患儿的临床资料,并复习相关文献。结果患儿女童,新生儿听力筛查双耳未通过,经听力学检测(声导抗鼓室图、颞骨CT、听性脑干反应等)诊断为分泌性中耳炎。听力学随访中,鉴于患儿具有眉毛稀疏、下眼睑轻度外翻、鼻小柱较短等特殊面容,经基因检测,诊断为歌舞伎综合征,为KMT2D基因c.7481dupT杂合突变。结论歌舞伎综合征患儿常伴有不同类型的听力损失,部分为分泌性中耳炎导致,如出现分泌性中耳炎合并特殊面容者,应警惕歌舞伎综合征的可能。ObjectiveTo investigate the diagnostic characteristics of Kabuki syndrome(KS)with otitis media with effusion(OME)as the first symptom.MethodsThe clinical data of a child with KS with OME as the first symptom in Otolaryngology Department of Women′s Hospital of Nanjing Medical University in August 2019 was retrospectively analyzed,and related literatures were reviewed.ResultsThe girl who failed in the newborn hearing screening was diagnosed as OME by audiological examination(acoustic impedance test,temporal ear CT,auditory brainstem response,etc.).During the audiological follow-up,the child was diagnosed as KS(KMT2D:c.7481dupt)by gene testing because of her special features such as sparse eyebrows,mild ectropion of lower eyelids and short nasal columella.ConclusionsChildren with KS often have different types of hearing loss,some of which are caused by OME.If there is OME with special facial features,KS should be considered.

关 键 词：分泌性中耳炎 歌舞伎综合征 KMT2D基因 诊断 

分 类 号：R76[医药卫生—耳鼻咽喉科]