The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

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.

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

“…A summary of the articles that reported follow-up data in each of the domains is shown in Table S1. Forty-seven of those patients had RTD2 due to biallelic mutations in SLC52A2, [2][3][4]12,[14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] 46 had RTD3 due to biallelic mutations in SLC52A3 18,20,24,27,31, and one patient had a mutation in both SLC52A2 and SLC52A3. 58 Seventy-six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable after riboflavin supplementation.…”

Treatment of hearing disorders in Brown-Vailetto-Van Laere syndrome with cochlear implants. The first description of the BVVL case in Poland

“…Niestety nie we wszystkich przypadkach efekty terapii są tak obiecujące. Suplementacja często polepsza neurologiczny stan chorego, ale powstały niedosłuch nie ulega regresji i aparaty słuchowe nie dają wielu korzyści w rozumieniu mowy, co wykazano w tabeli 1 [3,22,[26][27][28][29][30][31]. W takich przypadkach postępowaniem z wyboru jest wszczepienie implantów ślimakowych, a efekty po wszczepieniu urządzenia są porównywalne do neuropatii słuchowych o innej etiologii [32,33].…”