Department of Otorhinolaryngology and Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China.
Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, P. R. China.
Acta Otolaryngol. 2021 Jun;141(6):551-556. doi: 10.1080/00016489.2021.1906947. Epub 2021 Apr 5.
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).
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.
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.
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.
先天性双侧感音神经性聋（SNHL）患儿中无耳蜗耳硬化症的报道。
报告 1 例双侧耳蜗耳硬化症的婴儿病例，提示耳蜗耳硬化症可能是一种先天性疾病，并进一步分析先天性双侧耳蜗耳硬化症的病因和基因表达。我们还描述了接受人工耳蜗植入（CI）治疗的双侧耳蜗耳硬化症患者的临床特征和经验。
对 7 例（包括 1 例婴儿）诊断为耳蜗耳硬化症的患者进行了 CI 手术。收集并回顾了他们的病历、听力和影像学结果、手术过程和 CI 结果。
听力损失的中位年龄为 38 岁，范围为 0 至 47 岁。该患儿出生时双侧听力丧失，在 1 岁时接受了 CI。他还存在生长迟缓，被诊断为 3q+/3p-综合征。所有患者（8 只耳朵）术后的听觉表现均优于术前。
尽管耳蜗耳硬化症通常在中年开始且进展缓慢，但它可能是一种与染色体异常有关的先天性疾病。该疾病表现为 SNHL 或 MHL，CI 治疗有益。
