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Auditory and optic neuropathy in Kjer's disease: case report

Published online by Cambridge University Press:  06 October 2011

S C Haaksma-Schaafsma ,
P van Dijk  and
F G Dikkers
S C Haaksma-Schaafsma*
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
P van Dijk
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
F G Dikkers
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
*
Address for correspondence: Mrs S C Haaksma-Schaafsma, Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands Fax: +31 503611698 E-mail: [email protected]
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Abstract

Objective:

Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations.

Design:

Case report.

Subject:

A 30-year-old, Caucasian woman with Kjer's disease.

Results:

Audiological assessment showed low-frequency sensorineural hearing loss and a disproportionate deterioration in speech discrimination. This inconsistency gave rise to suspicion of possible aggravation. Follow-up testing showed that brainstem responses were absent, while clear otoacoustic emissions and cochlear microphonics were present. Hearing aids were fitted but no improvement was shown.

Conclusion:

This case shows a combination of auditory neuropathy and Kjer's optic neuropathy. It also illustrates that the combination of unexplained hearing loss and apparently inconsistent audiometric outcomes may be associated with auditory neuropathy. Such unexpected hearing evaluation outcomes may be due to other neurological conditions, such as Kjer's disease.

Keywords

Optic AtrophyAuditory NeuropathyAuditory Brainstem ResponseSensorineural Hearing LossOtoacoustic EmissionsCochlear Microphonic Potentials
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 126 , Issue 3 , March 2012 , pp. 309 - 312
Copyright
Copyright © JLO (1984) Limited 2011

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