title: Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops.
abstract: OBJECTIVE
  To report magnetic resonance imaging findings in a patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Otorhinolaryngology,Nagoya University Graduate School of Medicine,Nagoya,Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yoshida
authors.affiliation: Department of Otorhinolaryngology,Nagoya University Graduate School of Medicine,Nagoya,Japan.
authors.forename: M
authors.initials: M
authors.lastname: Sone
authors.affiliation: Department of Radiology,Nagoya University Graduate School of Medicine,Nagoya,Japan.
authors.forename: S
authors.initials: S
authors.lastname: Naganawa
authors.affiliation: Department of Otorhinolaryngology,Nagoya University Graduate School of Medicine,Nagoya,Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nakashima
mesh_terms: D000293:Adolescent; D018159:Endolymphatic Hydrops / Q000235:genetics*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters
keywords: Sensorineural