書誌事項
- タイトル別名
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- A Case of Bilateral Cochlear Implantation for Congenital Visual-Auditory Dual Disability Associated with Wolfram Syndrome and Osteogenesis Imperfecta
- Wolfram ショウコウグン ニ コツ ケイセイ フゼンショウ オ ガッペイ シタ センテンセイ シカク チョウカク ニジュウ ショウガイ ニ タイスル リョウガワ ジンコウ ナイジ シュジュツレイ
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抄録
<p>We report a case of bilateral cochlear implant surgery performed for profound sensorineural hearing loss in a 2-year-old girl with Wolfram syndrome and osteogenesis imperfecta type I. Wolfram syndrome is a rare autosomal-recessive genetic disorder characterized by juvenile diabetes mellitus and visual impairment. The hearing loss in Wolfram syndrome is typically a slowly progressive sensorineural hearing loss, primarily in the high-frequency range. Genetic testing of our patient showed mutations in WFS1 and COL1A1. Bilateral cochlear implant surgery was performed, because adequate wearing thresholds could not be achieved with hearing aids. This report is the first case of a patient with Wolfram syndrome with profound congenital hearing loss who benefited from cochlear implant surgery. The patient had a visual-auditory dual disability and lacked external stimuli. The cochlear implant provided valuable auditory compensation to ensure auditory stimulation. In the future, it is necessary to continue comprehensive rehabilitation for the patient with collaboration among the parents, speech-language pathologists, and rehabilitation facilities.</p>
収録刊行物
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- 耳鼻咽喉科臨床
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耳鼻咽喉科臨床 116 (5), 415-420, 2023
耳鼻咽喉科臨床学会
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詳細情報 詳細情報について
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- CRID
- 1390014481303348224
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- NII書誌ID
- AN00107089
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- ISSN
- 18844545
- 00326313
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- NDL書誌ID
- 032874959
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- NDL
- Crossref
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- 抄録ライセンスフラグ
- 使用不可