伴周围神经病变听神经病患者的临床特征分析

Clinical Characteristics of Patients with Auditory Neuropathy and Comorbid Peripheral Neuropathy

目的分析一组伴周围神经病变听神经病患者的临床症状特点和听力学特征,总结综合征型听神经病的遗传学和表型特征。方法对课题组2003年至2018年间收集的听神经病患者采用统一问卷调查,记录发病年龄和临床症状特点,并进行标准化的听力学评估:包括纯音测听、听性脑干反应(ABR)、声导抗、畸变产物耳声发射(DPOAE)、耳蜗电图(ECochG)、言语识别率测试。结果 2003-2018年共收集听神经病患者531例,伴周围神经病变者69例,占12.99%;其中男性32例,女性37例,男女比例为1:1.16;发病年龄在0-26岁,平均14.85±5.23岁,其中婴幼儿期(≤3岁)发病4例,占5.79%;儿童期(3-12岁)发病10例,占14.49%;青少年期(12-18岁)发病36例,占52.17%;成人(≥18岁)发病19例,占27.54%。44例(63.77%)患者首发为听神经病,另25例(36.23%)首发为视力下降、四肢麻木、走路不稳等周围神经病变的表现;54例(78.26%)伴有耳鸣,7例(10.14%)伴有眩晕或前庭功能障碍。纯音听力图以低频上升型听力曲线为主,占66.92%;听力损失程度主要表现为轻、中度听力损失,占68.46%。结论听神经病可伴发多种神经系统疾病,多表现为周围神经病变,如四肢麻木、肌张力低下、共济失调、视力下降等。综合征型听神经病患者的首发症状可以是听神经病,也可以是其他神经系统疾病,其听力学评估结果符合听神经病的听力学特征。

Objective To describe clinical symptoms and audiological characteristics of patients with auditory neuropathy and comorbid peripheral neuropathy,and to summarize genetic and phenotypic characteristics of syndromic auditory neuropathy.Methods A questionnaire was used to record the age of onset and clinical symptoms in patients with auditory neuropathy,in addition to standardized hearing assessment including pure tone audiometry,auditory brainstem responses(ABR),acoustic immittance,distorted product otoacoustic emissions(DPOAE),electrocochleogram(ECochG)and speech-discrimination scores(SDS).Results A total of 531 patients with auditory neuropathy were evaluated from 2003 to 2018,with 69(12.99%)having peripheral neuropathy at the same time,of whom 32 were male and 37 were female(men to women ratio=1:1.16).The age of onset was 0 to 26 years(mean=14.85±5.23 years).The onset occurred in infancy(≤3 years)in 4 cases(5.79%),in childhood(3-12 years)in 10 cases(14.49%),in adolescence(12-18 years)in 36 cases(52.17%)and in adulthood(≥18 years)in 19 cases(27.54%).Hearing loss and poor speech recognition were the initial symptoms in 44 patients(63.77%),while the rest of patients presented with features of peripheral neuropathy such as vision loss,numbness in limbs and balance difficulties.Tinnitus was reported in 54 cases(78.26%)and vertigo or vestibular dysfunction in 7 cases(10.14%).Pure tone audiograms were dominated by low frequency rising hearing loss(66.92%)of mainly mild and moderate severities(68.46%).Conclusion Auditory neuropathy can be accompanied by a variety of neurological diseases,dominated by peripheral neuropathy,manifesting as numbness in limbs,dysmyotonia,ataxia,vision loss,etc.The initial symptoms in patients with syndromic auditory neuropathy can be those of auditory neuropathy or other neurological diseases,although results of hearing evaluation are typically in line with the audiological characteristics of auditory neuropathy.