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Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition

Published online by Cambridge University Press:  14 September 2011

A Sudo ,
N Takeichi ,
K Hosoki  and
S Saitoh
A Sudo*
Affiliation:
Department of Pediatrics, Sapporo City General Hospital, Sapporo, Japan
N Takeichi
Affiliation:
Department of Otolaryngology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
K Hosoki
Affiliation:
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
S Saitoh
Affiliation:
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
*
Address for correspondence: Dr A Sudo, Department of Pediatrics, Sapporo City General Hospital, Kita 11, Nishi 13, Chuo-ku, Sapporo 060-8604, Japan Fax: +81 11 726 7912 E-mail: [email protected]
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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.

Keywords

Sensorineural Hearing LossCochlear ImplantationMitochondrial DNA
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 125 , Issue 12 , December 2011 , pp. 1282 - 1285
Copyright
Copyright © JLO (1984) Limited 2011

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Footnotes

Abstract presented at the 9th Conference of the Japanese Society of Mitochondrial Research and Medicine, 18 December 2009, Tokyo, Japan

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