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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
Abstract
To report magnetic resonance imaging findings in a patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss.
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.
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.
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- Copyright © JLO (1984) Limited 2015
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