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Cochlear implantation in patients with Charcot–Marie–Tooth disease: two cases with a review of the literature

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European Archives of Oto-Rhino-Laryngology Aims and scope Submit manuscript

Abstract

Purpose

To report two cases of bilateral cochlear implantation (CI) in Charcot–Marie–Tooth disease (CMT) patients with novel mutations. Furthermore, we conducted a detailed literature review on the profile and outcomes of CI in this uncommon clinical circumstance.

Case presentation

Case 1 involved a 25-year-old woman who was referred for sudden hearing loss (HL) in her left ear and had a 7-year history of HL in her right ear. She was diagnosed with CMT type 1 with a thymidine phosphorylase gene mutation. CI was performed on her left side because her hearing gradually worsened to deafness in both ears. At 3 months post-operation, her speech discrimination score without lip-reading improved from 0 to 100%. She underwent a second CI on her right ear 6 months after her first CI. Two years from her first operation, the speech discrimination score was 100%. Case 2 received her first CI on her right ear at the age of nine for her bilateral HL. She was diagnosed with CMT type 2 with a Twinkle mitochondrial DNA helicase gene mutation. Preoperatively, the speech discrimination score in both ear-aided conditions was 70%. At the 7-year post-operation follow-up, the speech discrimination score was 76%. A second CI was performed due to decreasing hearing ability in her left ear. The speech discrimination score showed 100% at 7 months after the second CI.

Conclusions

CI is an effective hearing rehabilitation option for CMT patients with severe-to-profound SNHL. Neuro-otologists should consider CI as a treatment option, even though hearing loss in CMT is associated with auditory neuropathy spectrum disease (ANSD).

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Authors and Affiliations

  1. Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea

    Bokhyun Song, Heechun Cho, Jason Yun & Il Joon Moon

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  1. Bokhyun Song
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  2. Heechun Cho
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  3. Jason Yun
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  4. Il Joon Moon
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Contributions

BS: study design, investigation, data collection, interpretation, and manuscript drafting. HC: investigation and data collection. JY: investigation and data collection. IJM: study design, interpretation, manuscript editing, and supervision.

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Correspondence to Il Joon Moon.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Song, B., Cho, H., Yun, J. et al. Cochlear implantation in patients with Charcot–Marie–Tooth disease: two cases with a review of the literature. Eur Arch Otorhinolaryngol (2024). https://doi.org/10.1007/s00405-024-08592-2

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  • DOI: https://doi.org/10.1007/s00405-024-08592-2

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