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Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops

Published online by Cambridge University Press:  09 January 2015

T Yoshida ,
M Sone ,
S Naganawa  and
T Nakashima
T Yoshida*
Affiliation:
Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan
M Sone
Affiliation:
Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan
S Naganawa
Affiliation:
Department of Radiology, Nagoya University Graduate School of Medicine, Nagoya, Japan
T Nakashima
Affiliation:
Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan
*
Address for correspondence: Dr T Yoshida, Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466–8550, Japan Fax: +81–52–744–2325 E-mail: tadaoy@med.nagoya-u.ac.jp
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Abstract

Objective:

To report magnetic resonance imaging findings in a patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss.

Case report:

A 13-year-old girl had bilateral and symmetric low-frequency sensorineural hearing loss. Upon genetic testing, a heterozygous c.1105A > G (p.K369E) mutation of the SLC26A4 gene was detected. Mild endolymphatic hydrops in the right cochlea and marked endolymphatic hydrops in the left vestibulum were seen by magnetic resonance imaging 4 hours after an intravenous gadolinium injection.

Conclusion:

This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss. Co-occurrence of cochlear and vestibular endolymphatic hydrops suggests an association with that pathology.

Keywords

Pendred SyndromeSLC26A4 Protein, HumanHearing Loss, Sensorineural
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 129 , Issue 1 , January 2015 , pp. 95 - 97
Copyright
Copyright © JLO (1984) Limited 2015 

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