中耳畸形合并脑脊液耳漏：一例病例报告

文献信息

中文摘要

背景： 中耳畸形（MEMs）包括一系列显著损害听觉功能的先天性异常。它们约占传导性听力损失病例的0.5%至3%，病因涉及遗传和环境因素。临床上，中耳畸形并发脑脊液（CSF）耳漏极为罕见。
患者主诉： 一名17岁男性因右耳听力下降7年余就诊。耳镜检查显示鼓膜松弛部穿孔。纯音测听证实右耳中度传导性听力损失，而乳突高分辨率计算机断层扫描未见明显异常。
诊断： 术中观察发现面神经管垂直段部分裂开、砧骨长脚缺如，以及Hyrtl裂并怀疑骨缺损处有脑脊液漏。
干预： 患者接受了鼓室探查手术，术中修复了裂隙，植入了部分听骨置换假体，并重建了听骨链。
结果： 术后45天随访时，鼓膜穿孔已闭合，传导性听力损失改善，气骨导差明显缩小。
结论： 据我们所知，这是首例报告的中耳畸形并发疑似脑脊液耳漏的病例。涉及缺损修复和人工听骨植入的手术干预显著改善了患者的生活质量。

英文摘要

RATIONALE: Middle ear malformations (MEMs) encompass a diverse spectrum of congenital anomalies that significantly impair auditory function. They account for approximately 0.5% to 3% of conductive hearing loss cases, with etiologies involving both genetic and environmental factors. Clinically, MEMs complicated by cerebrospinal fluid (CSF) otorrhea are extremely rare.
PATIENT CONCERNS: A 17-year-old male presented with right-sided hearing loss of over 7 years' duration. Otoscopic examination revealed a perforation in pars flaccid of the tympanic membrane. Pure-tone audiometry confirmed moderate conductive hearing loss in the right ear, while mastoid high-resolution computed tomography showed no obvious abnormalities.
DIAGNOSES: Intraoperative observations revealed partial dehiscence of the vertical segment of the facial nerve canal, agenesis of the long process of the incus, and Hyrtl fissure with suspected CSF leakage from the bony defect.
INTERVENTIONS: The patient underwent tympanic cavity exploration surgery, during which the fissure was repaired, a partial ossicular replacement prosthesis was implanted, and the ossicular chain was reconstructed.
OUTCOMES: At the 45-day postoperative follow-up, the tympanic membrane perforation was closed, conductive hearing loss improved, and the air-bone gap was markedly reduced.
LESSONS: To our knowledge, this represents the 1st reported case of MEMs complicated by presumed CSF otorrhea. The surgical intervention involving defect repair and artificial ossicle implantation significantly improved the patient's quality of life.