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Review
. 2013 Mar;122(3):177-82.
doi: 10.1177/000348941312200306.

Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy

Elizabeth A Kelly  1 , Jonathan M Bock, Amanda C Peltier, Shin J Oh, C Gaelyn Garrett
Affiliations
Review

Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy

Elizabeth A Kelly et al. Ann Otol Rhinol Laryngol. 2013 Mar.

Abstract

Objectives: We present the second published case of laryngeal involvement in mitochondrial myopathy.

Methods: A patient with laryngeal involvement of mitochondrial myopathy is presented, together with a literature review.

Results: A 41-year-old man presented with progressive breathy dysphonia. His brother had mitochondrial myopathy. Biopsy of the biceps muscle demonstrated cytochrome C oxidase-negative ragged blue fibers confirming mitochondrial myopathy. Videostroboscopy showed marked vocal fold atrophy, but subsequent injection laryngoplasty did not significantly improve the patient's voice, despite improved postoperative glottic closure.

Conclusions: Mitochondrial myopathy should be considered in the differential diagnosis of severe early-onset vocal fold atrophy.

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Figures

Fig. 1
Fig. 1
Videostroboscopic laryngeal imaging. Preoperative abduction (A) and adduction (B) images on rigid videostroboscopy show marked vocal fold atrophy and large mucosal wave with persistent glottic gap. Postoperative abduction (C) and adduction (D) images show improved vocal fold bulk and improved glottic gap after injection laryngoplasty.
Fig. 2
Fig. 2
Immunohistochemical analysis of biceps muscle. A) Hematoxylin and eosin staining shows many muscle fibers with central nuclei. B) Staining with nicotinamide adenine dinucleotide hydride demonstrates that many muscle fibers have “motheaten” appearance. C) Staining for cytochrome C oxidase and succinyl dehydrogenase demonstrates 2 cytochrome C oxidase–negative ragged blue fibers (arrow) on low power. D) Modified Gomori trichrome stain demonstrates no obvious ragged red fibers.
Fig. 3
Fig. 3
Intraoperative 0° and 70° telescopic images taken A,B) before and C,D) after injection laryngoplasty with micronized alloderm. Both folds were injected at anterior and posterior locations, and significant medialization effect was noted.
See this image and copyright information in PMC

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