Department of Otolaryngology Head and Neck Surgery Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University) Ministry of Education, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Beijing Institute of Otolaryngology, Beijing, 100005, China.
Eur J Med Res. 2022 Oct 29;27(1):221. doi: 10.1186/s40001-022-00832-7.
Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with mitochondrial encephalomyopathy (MEM) from September 2001 to June 2021. Our analysis included studying the patients' family histories, the clinical manifestations of MEM, and the therapeutic effects of treatments. The patients' ages ranged from 2 to 77 years, with a median age of 12.3 years. We found that MEM ENT symptoms were characterized by hearing loss, dysphagia, and facial weakness. Most cases of sensorineural hearing loss were bilateral symmetrical progressive or sudden deafness since adolescence, which were often underestimated. Associated neuromuscular symptoms required mtDNA testing. Dysphagia and facial weakness occurred preferentially in middle-aged patients, and muscle biopsies were advised. Distortion product otoacoustic emissions and auditory brainstem responsetesting were more sensitive and reliable than pure tone averages for objective monitoring of pathogenesis. Administration of the mitochondrial synthase complex benefited patients with acute episodes. If patients did not fully recover and exhibitedresidual language deficits, hearing aids or cochlear implants were recommended. Counsel was given regarding synthetical treatments for facial weakness, endoscopic circopharyngealmyotomy for dysphagia, and surgical correction of ptosis. This study demonstrates that increased awareness of these symptoms is important to address appropriate interventions and avoid complications such as ablepsia, aphasia, social isolation, malnutrition, aspiration pneumonia, and heart failure in the setting of MEM.
我们在此报告了 32 例线粒体脑肌病（MEM）患者的主观和客观耳鼻喉科发现以及治疗结果的评估，评估时间为 2001 年 9 月至 2021 年 6 月。我们的分析包括研究患者的家族史、MEM 的临床表现以及治疗效果。患者年龄为 2 至 77 岁，中位年龄为 12.3 岁。我们发现 MEM 的 ENT 症状以听力损失、吞咽困难和面部无力为特征。大多数感音神经性听力损失为双侧对称性进行性或青春期后突发性耳聋，常被低估。相关的神经肌肉症状需要进行 mtDNA 检测。吞咽困难和面部无力多发生于中年患者，建议进行肌肉活检。畸变产物耳声发射和听性脑干反应测试比纯音平均测试更敏感和可靠，可用于客观监测发病机制。线粒体合酶复合物的给药对急性发作的患者有益。如果患者没有完全恢复并出现语言障碍残留，建议使用助听器或人工耳蜗。对面肌无力给予综合治疗建议，对吞咽困难进行内镜环咽肌切开术，对眼睑下垂进行手术矫正。本研究表明，提高对这些症状的认识对于进行适当的干预非常重要，可以避免 MEM 患者出现失明、失语、社交隔离、营养不良、吸入性肺炎和心力衰竭等并发症。
