努南综合征:在耳蜗神经缺乏的情况下进行耳蜗植入。

Giovanni Ciavarro, Andrea Bacciu, Filippo Di Lella, Vincenzo Vincenti
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引用次数: 0

摘要

背景和目的:努南综合征(NS)是一种先天性疾病,其临床和遗传特征具有广泛的异质性。听力损失经常发生在NS中,尽管在其诊断标准中并不总是提到。我们报告了一名已确诊NS的儿童,他在耳蜗神经缺陷的情况下接受了双侧耳蜗植入术(CI)。病例介绍:我们介绍了一个受NS影响的女婴的病例。新生儿听力筛查和听力学评估显示,左耳严重、右耳严重的非对称感音神经性听力损失(SNHL)。助听器是在六个月大时安装的。脑磁共振成像显示耳蜗神经发育不全。由于听力阈值的逐渐恶化和言语发育不当,她在2岁时接受了左侧耳蜗植入术。四年后,右耳也被植入。在第一次手术六年后,注意到电极阵列的部分挤压。采用岩大部切除术进行了新装置的移植和再植入。患者在开放式语音感知测试中得分达到95%。结论:听力损失是NS患者的常见症状;然而,它的性质和严重程度是非常异质的。考虑到SNHL的可能进展,NS患者必须仔细定期进行听力随访,以便早期发现听阈的恶化。如果需要,应考虑人工耳蜗植入,同时考虑该综合征的听力学和系统特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.

Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.

Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.

Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.

Background and aim: Noonan syndrome (NS) is a congenital disorder characterized by a wide heterogeneity in clinical and genetic features. Hearing loss can frequently occur in NS, although not always mentioned in its diagnostic criteria. We are reporting on a child with an established NS who underwent bilateral cochlear implantation (CI) in the setting of cochlear nerve deficiency.

Case presentation: We present the case of a child-girl affected by NS. Newborn hearing screening and audiological evaluations reveled an asymmetric sensorineural hearing loss (SNHL), profound at left ear and severe at right ear. Hearing aids were fitted at the age of six months. Brain magnetic resonance imaging showed hypoplastic cochlear nerves. Due to progressive worsening of the hearing thresholds and inappropriate speech development, at the age of 2 years she underwent a left-sided cochlear implantation. Four years later, right ear was also implanted. Six years after the first surgery, a partial extrusion of the electrode array was noticed. Explantation and reimplantation of a new device was performed, adopting a subtotal petrosectomy approach. The patient reached a score of 95% in open-set speech perception tests.

Conclusions: Hearing loss is a frequent finding in patients with NS; however, its nature and severity are very heterogenous. In consideration of the possible progression of SNHL, audiological follow-up in NS patients must be carefully and periodically performed so as to early detect worsening of hearing threshold. If indicated, cochlear implantation should be considered, taking account of audiological and systemic features of this syndrome.

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