Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome

Objective: To study the results of petrosal bone imaging and audiometric lo ng-term follow-up of two patients with branchio-oto-renal (BOR) syndrome an d relate them to the clinical features, including caloric responses. Study Design: Longitudinal case study. Setting: Tertiary referral center. Patients: A father and son with the BOR syndrome. Main Outcome Measures: Both patients underwent imaging studies to detect an d evaluate inner ear anomalies. Longitudinal audiometric analysis of the he aring threshold data over the previous 23 years was performed. Caloric test s were performed at various ages. Results: The son had a short, wide internal acoustic canal, a hypoplastic c ochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; th e semicircular canals and endolymphatic sac were of normal size. He showed progressive fluctuant sensorineural hearing loss. Caloric tests disclosed h yporeflexia on the left side. The father had a plump internal acoustic cana l and hypoplastic cochlea on both sides. The left vestibule was hypoplastic , and the left vestibular aqueduct was marginally enlarged. He showed sever e hearing impairment, without substantial progression or fluctuation, and c aloric areflexia on the left side. Conclusion: These findings suggest a correlation between progressive fluctu ant sensorineural hearing loss with caloric hypofunction and the presence o f an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudi nal case studies are needed to further evaluate such a correlation.