title: Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.
abstract: OBJECTIVE
  To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses.
  
  
  METHODS
  Longitudinal case study.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  A father and son with the BOR syndrome.
  
  
  METHODS
  Both patients underwent imaging studies to detect and evaluate inner ear anomalies. Longitudinal audiometric analysis of the hearing threshold data over the previous 23 years was performed. Caloric tests were performed at various ages.
  
  
  RESULTS
  The son had a short, wide internal acoustic canal, a hypoplastic cochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; the semicircular canals and endolymphatic sac were of normal size. He showed progressive fluctuant sensorineural hearing loss. Caloric tests disclosed hyporeflexia on the left side. The father had a plump internal acoustic canal and hypoplastic cochlea on both sides. The left vestibule was hypoplastic, and the left vestibular aqueduct was marginally enlarged. He showed severe hearing impairment, without substantial progression or fluctuation, and caloric areflexia on the left side.
  
  
  CONCLUSIONS
  These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudinal case studies are needed to further evaluate such a correlation.
authors.affiliation: Department of Otorhinolaryngology, University Medical Center Nijmegen, The Netherlands.
authors.forename: M H
authors.initials: MH
authors.lastname: Kemperman
authors.forename: C
authors.initials: C
authors.lastname: Stinckens
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: P L
authors.initials: PL
authors.lastname: Huygen
authors.forename: F B
authors.initials: FB
authors.lastname: Joosten
authors.forename: C W
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002150:Caloric Tests; D003051:Cochlea / Q000000981:diagnostic imaging / Q000473:pathology*; D018450:Disease Progression; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009687:Nuclear Proteins; D010579:Petrous Bone / Q000000981:diagnostic imaging / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D017027:Protein Tyrosine Phosphatases; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D015534:Trans-Activators / Q000235:genetics; D014723:Vestibular Aqueduct / Q000000981:diagnostic imaging / Q000473:pathology*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases