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J Am Acad Audiol 1999; 10(09): 484-488
DOI: 10.1055/s-0042-1748537
Case Report

Auditory Neuropathy and a Mitochondrial Disorder in a Child: Case Study

Virginia M. Corley
Department of Speech-Language Pathology and Audiology, University of South Carolina, Columbia, South Carolina
,
Linda S. Crabbe
Developmental Pediatrics, Tuomey Healthcare Systems, Sumter, South Carolina
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Abstract

A child was referred for an audiologic evaluation, to include auditory brainstem evoked response testing, due to inconsistent responses to sound and delayed speech and language development. Results were characteristic of auditory neuropathy. In view of subsequent decline in motor function, a genetics evaluation was conducted, revealing a mitochondrial disorder. A brief overview of mitochondrial genetics in association with hearing loss is presented. The patient's audiologic profile is described and the implications for management are discussed.

Abbreviations: ABR = auditory brainstem evoked response, ATP = adenosine triphosphate, DPOAE = distortion-product otoacoustic emissions, MRI = magnetic resonance imaging, mtDNA = mitochondrial deoxyribonucleic acid, nDNA = nuclear deoxyribonucleic acid, OAE = otoacoustic emissions, OXPHOR = oxidative phosphorylation

Key Words

Auditory neuropathy - maternal inheritance - mitochondrial disorder - oxidative phosphorylation


Publication History

Article published online:
05 May 2022

© 1999. American Academy of Audiology. This article is published by Thieme.

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