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

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.