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Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G > A transition
Title: | Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G > A transition |
Authors: | Sudo, A. Browse this author | Takeichi, N. Browse this author | Hosoki, K. Browse this author | Saitoh, S. Browse this author →KAKEN DB |
Keywords: | Sensorineural Hearing Loss | Cochlear Implantation | Mitochondrial DNA |
Issue Date: | Dec-2011 |
Publisher: | Cambridge University Press |
Journal Title: | Journal of Laryngology & Otology |
Volume: | 125 |
Issue: | 12 |
Start Page: | 1282 |
End Page: | 1285 |
Publisher DOI: | 10.1017/S0022215111002453 |
Abstract: | Objective: We present a patient with mitochondrial hearing loss and a novel mitochondrial DNA transition, who underwent successful cochlear implantation. Case report: An 11-year-old girl showed epilepsy and progressive hearing loss. Despite the use of hearing aids, she gradually lost her remaining hearing ability. Laboratory data revealed elevated lactate levels, indicating mitochondrial dysfunction. Magnetic resonance imaging showed diffuse, mild brain atrophy. Cochlear implantation was performed, and the patient's hearing ability was markedly improved. Whole mitochondrial DNA genome analysis revealed a novel heteroplasmic mitochondrial 625G>A transition in the transfer RNA gene for phenylalanine. This transition was not detected in blood DNA from the patient's mother and healthy controls. Mitochondrial respiratory chain activities in muscle were predominantly decreased in complex III. Conclusion: This case indicates that cochlear implantation can be a valuable therapeutic option for patients with mitochondrial syndromic hearing loss. |
Rights: | ©JLO (1984) Limited, 2011 |
Relation: | http://journals.cambridge.org/action/displayJournal?jid=JLO |
Type: | article |
URI: | http://hdl.handle.net/2115/50777 |
Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 齋藤 伸治
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