Liao Elizabeth N, Chan Dylan K
Division of Pediatric Otolaryngology, Department of Otolaryngology-Head & Neck Surgery University of California San Francisco California USA.
Laryngoscope Investig Otolaryngol. 2022 Apr 20;7(3):863-869. doi: 10.1002/lio2.793. eCollection 2022 Jun.
To describe the prevalence and significance of first branchial cleft anomalies in children with congenital aural atresia.
Retrospective cohort study and case series. Patients were included if they had ICD-10 code Q16.0, Q16.1, Q16.9, Q17.2, or Q17.9 in their medical record and were seen at UCSF Benioff Children's Hospital from 2012 to 2020 for aural atresia. Children were categorized as having aural atresia and first branchial cleft anomalies if the presence of a first branchial cleft anomaly was noted in otolaryngology provider notes; otherwise, they were categorized as aural atresia alone. Patients with aural atresia and first branchial cleft anomalies were included in the case series.
Among 125 children with congenital aural atresia, 5 (4%) were identified with first branchial cleft anomalies. In all cases, an epithelialized tract was noted to originate from the inferior aspect of the middle ear cleft, exiting the temporal bone in an inferomedial position adjacent to the stylomastoid foramen, with a cutaneous exit point inferior to the expected location of the native ear canal. There was no association with sex, microtia grade, or laterality of atresia; however, children with aural atresia and first branchial cleft anomalies were significantly more likely to have syndromes such as Goldenhar and Treacher Collins ( = .04) than those with aural atresia alone.3/5 (60%) children with aural atresia and first branchial cleft anomalies presented with cholesteatoma compared with 1/120 (0.8%) children with aural atresia alone, a significant difference ( < .001). All four children over the age of two have undergone surgical management. In two of these, excision of the branchial cleft anomaly could be combined with atresiaplasty, with normal hearing results in both cases.
Aural atresia can be associated with comorbid anomalies of the head and neck. First branchial cleft anomalies can be suspected based on characteristic clinical appearance and confirmed with computed tomography showing a typical course through the temporal bone. When present in the context of congenital aural atresia, first branchial cleft anomalies are associated with a significantly increased risk for cholesteatoma, often necessitating surgical management with favorable hearing outcomes.
描述先天性耳道闭锁儿童中第一鳃裂畸形的患病率及意义。
回顾性队列研究和病例系列研究。纳入病历中有ICD - 10编码Q16.0、Q16.1、Q16.9、Q17.2或Q17.9且于2012年至2020年在加州大学旧金山分校贝尼奥夫儿童医院因耳道闭锁就诊的患者。若耳鼻喉科医生记录中发现存在第一鳃裂畸形，则将儿童归类为患有耳道闭锁和第一鳃裂畸形；否则，归类为单纯耳道闭锁。患有耳道闭锁和第一鳃裂畸形的患者纳入病例系列。
在125例先天性耳道闭锁儿童中，5例（4%）被发现患有第一鳃裂畸形。在所有病例中，可见一个上皮化管道起自中耳裂的下方，在紧邻茎乳孔的内下位置穿出颞骨，皮肤出口点位于原耳道预期位置下方。与性别、小耳畸形分级或闭锁的侧别无关；然而，患有耳道闭锁和第一鳃裂畸形的儿童比单纯耳道闭锁的儿童更易患Goldenhar和Treacher Collins等综合征（P = 0.04）。3/5（60%）患有耳道闭锁和第一鳃裂畸形的儿童出现胆脂瘤，而单纯耳道闭锁的儿童中1/120（0.8%）出现胆脂瘤，差异有统计学意义（P < 0.001）。所有4名两岁以上儿童均接受了手术治疗。其中2例，鳃裂畸形切除术可与耳道成形术联合进行，两例听力结果均正常。
耳道闭锁可能与头颈部合并畸形有关。根据特征性临床表现可怀疑第一鳃裂畸形，通过计算机断层扫描显示其在颞骨中的典型走行可确诊。当先天性耳道闭锁合并第一鳃裂畸形时，胆脂瘤风险显著增加，常需手术治疗且听力预后良好。
4级
