Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabédian E N, Loundon N
Département d'Otorhinolaryngologie et de Chirurgie Cervico-faciale, Service d'Otorhinolaryngologie et de Chirurgie Cervico-faciale, Hôpital d'Enfants Armand-Trousseau, 26 Avenue Arnold Netter, 75571 Paris Cedex 12, France.
Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. doi: 10.1016/j.ijporl.2005.09.006. Epub 2005 Oct 13.
The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening.
We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively).
Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale), audiometric evaluation (TEOAE, AEP) before and after implantation, and neural response telemetry (NRT).
Both patients present a good quality of clinical responses and electrophysiological tests after implantation, indicating satisfactory functioning of the auditory nerve. This confirms the endocochlear origin of DFNB9 and suggests that these mutations in OTOF lead to functional alteration of inner hair cells.
In the absence of a context of neurological syndrome, the combination of absent AEP and positive TEOAE should lead to a genetic screening for mutations in OTOF, in order to undertake the appropriate management.
本研究旨在呈现因OTOF基因突变导致耳聋的人工耳蜗植入结果。这种耳聋形式的特征是存在瞬态诱发耳声发射（TEOAE）。在伴有保留TEOAE的极重度耳聋病例中，应考虑两种主要病因：要么是听神经病（一种蜗后病变），要么是蜗内病变。在治疗和筛查方面区分这两种情况至关重要。
我们报告了两名儿童，他们表现为极重度语前聋，经听性诱发电位（AEP）检测无可检测反应证实，同时伴有双侧TEOAE。基因检测发现OTOF基因突变，确诊为DFNB9耳聋。两名患者均已成功植入人工耳蜗（分别随访18个月和36个月）。
临床指标（口语表达、封闭式和开放式单词及句子列表、有意义听觉整合量表）、植入前后的听力评估（TEOAE、AEP）以及神经反应遥测（NRT）。
两名患者植入后临床反应和电生理测试质量良好，表明听神经功能良好。这证实了DFNB9的蜗内起源，并提示OTOF基因的这些突变导致内毛细胞功能改变。
在无神经综合征背景的情况下，AEP缺失和TEOAE阳性同时出现应进行OTOF基因突变的基因筛查，以便采取适当的管理措施。
