| Autor: |
Sudo, A, Takeichi, N, Hosoki, K, Saitoh, S |
| Předmět: |
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| Zdroj: |
Journal of Laryngology & Otology; Dec2011, Vol. 125 Issue 12, p1282-1285, 4p |
| Abstrakt: |
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. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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