title: Can magnetic resonance imaging provide clues to the inner ear functional status of enlarged vestibular aqueduct subjects with PDS mutation?
abstract: OBJECTIVE
  The goal of this study was to characterize the signal intensity (SI) pattern in the endolymphatic duct/sac from T2-weighted spin echo magnetic resonance (MR) images and T2*-weighted 3-dimensional (3-D) constructive interference in steady state (CISS) MR images that were obtained from a homogenous group of patients with an enlarged vestibular aqueduct (EVA) associated with SLC264 (PDS) mutations.
  
  
  METHODS
  A retrospective study.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  Eleven subjects (22 ears), with at least 1 SLC26A4 mutation and bilateral EVA confirmed by temporal bone computed tomography, were enrolled.
  
  
  METHODS
  The MR images of 22 ears were reviewed retrospectively.
  
  
  METHODS
  The SI of the endolymphatic sac (ES) from 2 sequences were compared and reviewed. The presence of anomalies of the vestibule were also evaluated. In addition, the caloric test results were also reviewed to characterize the vestibular function in a subset of our cohort (12 ears).
  
  
  RESULTS
  T2*-weighted 3-D CISS MR images revealed a more variable SI in the enlarged endolymphatic system than did the T2-weighted images. There was a hierarchy for the order of SI loss from the endolymphatic system on the T2*-weighted 3-D CISS MR images. There were 3 cases where the SI loss from the intraosseous ES, on the T2*-weighted 3-D CISS images, was associated with an abnormal caloric response.
  
  
  CONCLUSIONS
  The SI of the ES observed on T2*-weighted 3-D CISS images of EVA patients, with SLC26A4 mutations, showed a distinctive pattern, and the results from this study suggest a potential role for the MR imaging in providing physicians with better information about the functional status of the inner ear.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Seung-Ha
authors.initials: SH
authors.lastname: Oh
authors.forename: Byung Yoon
authors.initials: BY
authors.lastname: Choi
authors.forename: Kyu Ri
authors.initials: KR
authors.lastname: Son
authors.forename: Kang Jin
authors.initials: KJ
authors.lastname: Lee
authors.forename: Sun O
authors.initials: SO
authors.lastname: Chang
authors.forename: Chong-Sun
authors.initials: CS
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002150:Caloric Tests; D002648:Child; D004584:Electronystagmography; D004711:Endolymphatic Duct / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D010291:Paresis / Q000175:diagnosis; D017354:Point Mutation / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters