{"title":"Cochlear implantation in a familial rare syndromic ossification-related deafness and literature review.","authors":"Xinyue Zou, Biao Chen, Jingyuan Chen, Ying Shi, Ping Liu, Lifang Zhang, Simeng Lu, Danmo Cui, Xingmei Wei, Ying Kong, Yongxin Li","doi":"10.1080/00016489.2024.2401941","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Kenny-Caffey Syndrome type 2 (KCS2) is a genetic disease affecting bone metabolism. However, cochlear implantation (CI) results have yet to be published in detail.</p><p><strong>Objective: </strong>This study presents the gene, clinical characteristics, surgical outcomes, and literature review of 2 patients with sensorineural hearing loss related to KCS2. To enhance diagnostic detection and accuracy, we also compare the differential diagnosis between KCS2, otosclerosis, and Cogan's syndrome (CS).</p><p><strong>Methods: </strong>Prior to CI, patients with KCS2 and CS underwent comprehensive audiological and radiological evaluations. Postoperative auditory speech outcomes and impedance values were recorded and analyzed statistically. A systematic search of the literature was conducted to summarize clinical characteristics.</p><p><strong>Results: </strong>Patients diagnosed with KCS2 exhibit more pronounced changes in the inner ear. The impedance values in the KCS2 cohort were considerably higher (Mean = 12.13 kΩ) than those with CS (Mean = 8.8 kΩ) one year post-activation. The literature review exhibits the clinical manifestations associated with KCS2.</p><p><strong>Conclusion: </strong>CI is an effective treatment for KCS2 to restore hearing loss. More frequent programming and accurate adjustment of stimulation is of great necessity. A thorough examination, including temporal bone HRCT, 3D-MRI, audiological evaluations, and whole-exome sequencing, is essential for the diagnosis and treatment of KCS2.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Oto-Laryngologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/00016489.2024.2401941","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Kenny-Caffey Syndrome type 2 (KCS2) is a genetic disease affecting bone metabolism. However, cochlear implantation (CI) results have yet to be published in detail.
Objective: This study presents the gene, clinical characteristics, surgical outcomes, and literature review of 2 patients with sensorineural hearing loss related to KCS2. To enhance diagnostic detection and accuracy, we also compare the differential diagnosis between KCS2, otosclerosis, and Cogan's syndrome (CS).
Methods: Prior to CI, patients with KCS2 and CS underwent comprehensive audiological and radiological evaluations. Postoperative auditory speech outcomes and impedance values were recorded and analyzed statistically. A systematic search of the literature was conducted to summarize clinical characteristics.
Results: Patients diagnosed with KCS2 exhibit more pronounced changes in the inner ear. The impedance values in the KCS2 cohort were considerably higher (Mean = 12.13 kΩ) than those with CS (Mean = 8.8 kΩ) one year post-activation. The literature review exhibits the clinical manifestations associated with KCS2.
Conclusion: CI is an effective treatment for KCS2 to restore hearing loss. More frequent programming and accurate adjustment of stimulation is of great necessity. A thorough examination, including temporal bone HRCT, 3D-MRI, audiological evaluations, and whole-exome sequencing, is essential for the diagnosis and treatment of KCS2.
期刊介绍:
Acta Oto-Laryngologica is a truly international journal for translational otolaryngology and head- and neck surgery. The journal presents cutting-edge papers on clinical practice, clinical research and basic sciences. Acta also bridges the gap between clinical and basic research.