Auditory Neuropathy Spectrum Disorder in Brown-Vialetto-Van Laere Syndrome

Abstract

Background and Aim: This study shows the clinical symptoms pertinent to auditory neuropathy spectrum disorder (ANSD) for a 16-year-old girl with Brown-Vialetto-Van Laere Syndrome (BVVL). The results have been followed for six years between 2015 and 2021. The Case: In the present study, auditory test battery including tympanometry, acoustic reflex, pure tone audiometry, transient evoked otoacoustic emissions and auditory brainstem response were utilized and repeated three times during six years. Conclusion: In the first session, the results revealed bilaterally normal transient evoked otoacoustic emissions, absent acoustic reflexes (ipsilateral and contralateral), mild to moderate low tone loss in the pure tone audiometry, no auditory brain stem responses at high stimulus intensities and different polarities and present cochlear microphonic component in single polarities. In the second session, pure tone audiometry showed slight to mild high tone loss but the other tests demonstrated their same results. In the final session, the latter results were repeated. In this comprehensive follow up study, the patient with BVVL demonstrated clinical symptoms of auditory neuropathy spectrum disorder in which auditory system showed an impairment in the auditory temporal synchronization and encoding. © 2022 Tehran University of Medical Sciences.