A new phenomenon of cochlear otosclerosis: an acquired or congenital disease? – A clinical report of cochlear otosclerosis

Abstract

Background

No cochlear otosclerosis in infants with congenital bilateral SNHL has been reported.

Aims/Objectives

We report an infant male with bilateral cochlear otosclerosis, suggesting that cochlear otosclerosis may be a congenital disease and to further analyze the etiology of and genetic expression in congenital bilateral cochlear otosclerosis. We also describe the clinical characteristics and experience of patients with bilateral cochlear otosclerosis treated with cochlear implants (CIs).

Materials and Methods

Seven patients, including an infant, who were diagnosed with cochlear otosclerosis underwent CI surgery. Their medical records, audiological and radiological results, surgical procedures, and CI outcomes were collected and reviewed.

Results

The median age at hearing loss was 38 years, ranging from 0 to 47 years. The child had bilateral hearing loss at birth and received a CI at 1 year of age. He also had growth retardation and was diagnosed with 3q+/3p- syndrome. All patients (8 ears) had better postoperative auditory performance than that preoperatively.

Conclusions and Significance

Although cochlear otosclerosis often starts at middle age and progresses slowly, it may be a congenital disease that is related to chromosome abnormality. This disease presents with SNHL or MHL, and treatment with a CI is beneficial.

Chinese abstract

背景：还没有先天性双侧SNHL婴儿患耳蜗耳硬化症的报道。

目的：我们报道一名男婴患有双侧耳蜗耳硬化症, 提示该耳蜗耳硬化症可能是一种先天性疾病。进一步分析先天性双侧耳蜗耳硬化症的病因和基因表达。我们还描述用耳蜗植入物（CI）治疗双侧耳蜗耳硬化症患者的临床特征和经验。

材料和方法：七名被诊断为耳蜗耳硬化症的患者（包括一名婴儿）接受了CI手术。他们的医疗记录、听力学和放射学结果、外科手术程序以及CI结果均已收集并审查。

结果：听力损失的中位年龄为38岁, 范围为0至47岁。这个孩子在出生时双侧听力丧失, 并且在1岁时接受了CI。他还患有发育迟缓, 并被诊断出患有3qþ/ 3p-综合征。所有患者（8只耳）的术后听觉表现均优于术前。

结论和意义：尽管耳蜗硬化症通常始于中年, 发展缓慢, 但它也可能是与染色体异常有关的先天性疾病。这种病表现为SNHL或MHL, 用CI治疗有效。

Keywords:

• Otosclerosis
• cochlear implant
• hearing loss
• duplication 3q syndrome

Acknowledgements

The authors thank Wiley editing services for English language editing of this manuscript.

Disclosure statement

The authors have no other funding, financial relationships, or conflicts of interest to disclose.