迟发性听觉神经病谱系障碍（ANSD）作为多系统神经表现一部分的亚临床神经和平衡异常

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中文摘要

背景： 听觉神经病谱系障碍（ANSD）主要被视为一种听力障碍，平衡问题鲜有报道。尽管一些研究在ANSD中除听觉缺陷外还调查了前庭异常，但神经方面在很大程度上被忽视。ANSD个体的细微平衡缺陷常被忽略，导致该领域研究有限。本研究旨在描述一组获得性ANSD个体的全面神经和听觉-前庭测试，这些个体报告了平衡相关主诉但既往无神经系统疾病诊断，因此代表了临床上未被充分认识的缺陷。方法：14名ANSD患者接受了一系列临床评估，包括听性脑干反应（ABR）、颈性和眼性前庭诱发肌源性电位（VEMPs）、视频头脉冲试验（vHIT）、运动和感觉神经传导研究、体感诱发电位（SSEP）、血液学检查和磁共振成像（MRI）。结果：所有患者均为Romberg阳性，并显示串联步态受损，尽管在常规临床测试中颅神经和运动检查结果基本保留。听觉评估显示不同程度的听力损失、ABR缺失以及VEMPs和vHIT结果异常，而MRI结果无异常。大多数患者运动神经传导正常；然而，少数个体表现出感觉神经电位降低或缺失。此外，9名患者的SSEP潜伏期异常。结论：VEMPs缺失和vHIT异常提示潜在的前庭病，而神经传导和SSEP异常表明ANSD中可能存在体感缺陷。这些初步发现强调了多学科方法评估ANSD平衡缺陷的重要性，该领域证据仍然稀缺。

英文摘要

Auditory neuropathy spectrum disorder (ANSD) is primarily considered a hearing disorder, with balance issues rarely reported. Although some studies have investigated vestibular abnormalities in ANSD in addition to auditory deficits, the neurological aspects have largely been overlooked. Subtle balance deficits in individuals with ANSD often go unnoticed, which has resulted in limited research in this area. The present study aims to describe a comprehensive battery of neurological and audio-vestibular tests in individuals with acquired ANSD who reported balance-related complaints but did not have a prior diagnosis of a neurological disorder, thus representing clinically under-recognized deficit. Fourteen patients with ANSD underwent a series of clinical assessments, including auditory brainstem response (ABR), cervical and ocular vestibular evoked myogenic potentials (VEMPs), the video head impulse test (vHIT), motor and sensory nerve conduction studies, somatosensory evoked potentials (SSEP), hematological investigations, and magnetic resonance imaging (MRI). All patients were Romberg-positive and showed an impaired tandem gait, despite largely preserved cranial nerves and motor examination findings on routine clinical testing. Auditory assessments revealed varying degrees of hearing loss, absent ABRs, and abnormal VEMPs and vHIT results, while MRI findings were unremarkable. Motor nerve conduction was normal in most patients; however, a few individuals exhibited reduced or absent sensory nerve potentials. In addition, SSEP latencies were abnormal in nine patients. The absence of VEMPs and abnormal vHIT findings suggest an underlying vestibulopathy, whereas nerve conduction and SSEP abnormalities indicate a possible somatosensory deficit in ANSD. These preliminary findings underscore the importance of a multidisciplinary approach to the evaluation of balance deficits in ANSD, an area in which evidence remains scarce.