Rance Gary, Chisari Donella
The University of Melbourne, Australia.
J Otol. 2016 Dec;11(4):185-191. doi: 10.1016/j.joto.2016.10.002. Epub 2016 Oct 22.
To evaluate the auditory function of an individual with genetically confirmed hemochromatosis.
A 57 year old male with mildly impaired sound detection thresholds underwent a range of behavioural, electroacoustic and electrophysiologic assessments. These included the recording of otoacoustic emissions and auditory brainstem responses, measurement of monaural temporal resolution and evaluation of binaural speech processing. Findings for this patient were subsequently compared with those of 80 healthy controls with similar audiometric thresholds.
The patient showed the three cardinal features of auditory neuropathy, presenting with evidence of normal cochlear outer hair cell function, disrupted neural activity in the auditory nerve/brainstem and impaired temporal processing. His functional hearing ability (speech perception) was significantly affected and suggested a reduced capacity to use localization cues to segregate signals in the presence of background noise.
We present the first case of an individual with hemochromatosis and auditory neuropathy. The findings for this patient highlight the need for careful evaluation of auditory function in individuals with the disorder.
评估一名基因确诊为血色素沉着症患者的听觉功能。
一名声音检测阈值轻度受损的57岁男性接受了一系列行为、电声和电生理评估。这些评估包括耳声发射和听觉脑干反应的记录、单耳时间分辨率的测量以及双耳言语处理的评估。随后将该患者的检查结果与80名听力阈值相似的健康对照者的结果进行比较。
该患者表现出听觉神经病的三个主要特征，即耳蜗外毛细胞功能正常、听神经/脑干神经活动中断以及时间处理受损。他的功能性听力（言语感知）受到显著影响，表明在存在背景噪声的情况下，利用定位线索分离信号的能力下降。
我们报告了首例血色素沉着症合并听觉神经病患者。该患者的检查结果凸显了对患有该疾病的个体进行听觉功能仔细评估的必要性。
