The audiovestibular profile of Brown-Vialetto-Van Laere syndrome. Issue 11 (9th November 2021)

• Record Type: Journal Article
• Authors: Omar, R; Rajput, K; Sirimanna, T; Rajput, S; Pagarkar, W
• Is Part Of: Journal of laryngology & otology. Volume 135:Issue 11(2021)
• Page Start: 1000
• Page End: 1009
• Publication Date: 2021-11-09
• Subjects: Brown-Vialetto-Van Laere Syndrome -- Riboflavin -- Neurotology -- Auditory Neuropathy -- Vestibular Function Tests; Otolaryngology -- Periodicals; 617.51
• DOI: 10.1017/S0022215121002395
• Languages: English
• ISSNs: 0022-2151

Abstract

Abstract: Background: Brown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory neuropathy spectrum disorder. Method: This study reports the detailed audiovestibular profiles of four cases of Brown-Vialetto-Van Laere syndrome with SLC52A2 and SLC52A3 mutations. All of these patients had auditory neuropathy spectrum disorder. Results: There was significant heterogeneity in vestibular function and in the benefit gained from cochlear implantation. The audiological response to riboflavin therapy was also variable, in contrast to generalised improvement in motor function. Conclusion: We suggest that comprehensive testing of vestibular function should be conducted in Brown-Vialetto-Van Laere syndrome, in addition to serial behavioural audiometry as part of the systematic examination of the effects of riboflavin.