Forli F, Mancuso M, Santoro A, Dotti M T, Siciliano G, Berrettini S
Division of ENT, Department of Neuroscience, University of Pisa, Italy.
J Laryngol Otol. 2006 Oct;120(10):888-91. doi: 10.1017/S0022215106001472. Epub 2006 May 24.
Auditory neuropathy (AN) is a hearing disorder characterized by the absence or severe distortion of the auditory brainstem responses, in the presence of preserved otoacoustic emissions. This peculiar combination suggests the presence of a defect impinging upon the functional complex formed by inner hair cells, the primary afferents (spiral ganglion neurones) and the first order synapses between hair cells and the cochlear nerve. Typically, AN patients show a severe speech perception impairment, which appears reduced out of proportion to pure tone threshold, but the clinical presentation of AN is quite complex. Hearing loss is a common symptom associated with mitochondrial diseases; however, AN has only rarely been reported in these disorders. Here we report a rare association, the first case observed in Italy, in a patient with autosomal recessive mitochondrial myopathy and mitochondrial DNA multiple deletions, and a hearing deficit with the audiological and electrophysiological features of AN.
听神经病（AN）是一种听力障碍，其特征是在耳声发射正常的情况下，听觉脑干反应缺失或严重畸变。这种特殊的组合表明存在一种缺陷，影响了由内毛细胞、初级传入神经（螺旋神经节神经元）以及毛细胞与蜗神经之间的一级突触所形成的功能复合体。典型的情况是，AN患者表现出严重的言语感知障碍，与纯音阈值相比，这种障碍显得不成比例地严重，但AN的临床表现相当复杂。听力损失是与线粒体疾病相关的常见症状；然而，在这些疾病中，AN的报道却很少。在此，我们报告一例罕见的关联病例，这是在意大利观察到的首例，患者患有常染色体隐性线粒体肌病和线粒体DNA多处缺失，伴有具有AN听力学和电生理特征的听力缺陷。
