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The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

Published online by Cambridge University Press:  09 September 2021

R Omar ,
K Rajput ,
T Sirimanna ,
S Rajput  and
W Pagarkar
R Omar
Affiliation:
Department of Audiovestibular Medicine, Royal National ENT and Eastman Dental Hospitals, University College London Hospitals NHS Foundation Trust, London, UK
K Rajput*
Affiliation:
Department of Audiovestibular Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
T Sirimanna
Affiliation:
Department of Audiovestibular Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
S Rajput
Affiliation:
Wexham Park Hospital, Slough, UK
W Pagarkar
Affiliation:
Department of Audiovestibular Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
*
Author for correspondence: Mr K Rajput, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, LondonWC1N 3JH, UK E-mail: kaukab.rajput@gosh.nhs.uk
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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.

Keywords

Brown-Vialetto-Van Laere SyndromeRiboflavinNeurotologyAuditory NeuropathyVestibular Function Tests
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 135 , Issue 11 , November 2021 , pp. 1000 - 1009
Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press

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Footnotes

Mr K Rajput takes responsibility for the integrity of the content of the paper

References

Gallai, V, Hockaday, JM, Hughes, JT, Lane, DJ, Oppenheimer, DR, Rushworth, G. Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). J Neurol Sci 1981;50:259–75CrossRefGoogle Scholar
Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014;137:44–56CrossRefGoogle ScholarPubMed
Bosch, AM, Stroek, K, Abeling, NG, Waterham, HR, Ijlst, L, Wanders, RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012;7:83CrossRefGoogle ScholarPubMed
McShane, MA, Boyd, S, Harding, B, Brett, EM, Wilson, J. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain 1992;115:1889–900Google ScholarPubMed
Green, P, Wiseman, M, Crow, YJ, Houlden, H, Riphagen, S, Lin, JP et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010;86:485–9CrossRefGoogle ScholarPubMed
Johnson, JO, Gibbs, JR, Megarbane, A, Urtizberea, JA, Hernandez, DG, Foley, AR et al. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012;135:2875–82CrossRefGoogle ScholarPubMed
Sathasivam, S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 2008;3:9CrossRefGoogle ScholarPubMed
Anderson, P, Schaefer, S, Henderson, L, Bruce, IA. Cochlear implantation in children with auditory neuropathy: lessons from Brown-Vialetto-Van Laere syndrome. Cochlear Implants Int 2019;20:31–8CrossRefGoogle ScholarPubMed
Chandran, R, Alexander, M, Naina, P, Balraj, A. Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. J Laryngol Otol 2015;129:504–8CrossRefGoogle ScholarPubMed
Menezes, MP, O'Brien, K, Hill, M, Webster, R, Antony, J, Ouvrier, R et al. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. Dev Med Child Neurol 2016;58:848–54CrossRefGoogle ScholarPubMed
Al-Twaijri, WA, Shevell, MI. A novel chronic childhood sensory predominant neuropathy. Pediatr Neurol 2002;27:49–52CrossRefGoogle ScholarPubMed
Hawkins, SA, Nevin, NC, Harding, AE. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet 1990;27:176–9CrossRefGoogle ScholarPubMed
Rance, G. Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 2005;9:1–43CrossRefGoogle ScholarPubMed
Rance, G, Ryan, MM, Bayliss, K, Gill, K, O'Sullivan, C, Whitechurch, M. Auditory function in children with Charcot-Marie-Tooth disease. Brain 2012;135:1412–22CrossRefGoogle ScholarPubMed
Rance, G, Corben, L, Delatycki, M. Auditory processing deficits in children with Friedreich ataxia. J Child Neurol 2012;27:1197–203CrossRefGoogle ScholarPubMed
O'Callaghan, B, Bosch, AM, Houlden, H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis 2019;42:598–607CrossRefGoogle ScholarPubMed
Jaeger, B, Bosch, AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016;39:559–64CrossRefGoogle ScholarPubMed
Manole, A, Jaunmuktane, Z, Hargreaves, I, Ludtmann, MHR, Salpietro, V, Bello, OD et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 2017;140:2820–37CrossRefGoogle ScholarPubMed
Sinnathuray, AR, Watson, DR, Fruhstorfer, B, Olarte, JR, Toner, JG. Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. J Laryngol Otol 2011;125:314–7CrossRefGoogle ScholarPubMed
Garg, M, Kulkarni, SD, Hegde, AU, Shah, KN. Riboflavin treatment in genetically proven Brown-Vialetto-Van Laere syndrome. J Pediatr Neurosci 2018;13:471–3CrossRefGoogle ScholarPubMed
Woodcock, IR, Menezes, MP, Coleman, L, Yaplito-Lee, J, Peters, H, White, SM et al. Genetic, radiologic, and clinical variability in Brown-Vialetto-van Laere syndrome. Semin Pediatr Neurol 2018;26:2–9CrossRefGoogle ScholarPubMed
Shi, K, Shi, Z, Yan, H, Wang, X, Yang, Y, Xiong, H et al. A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. BMC Med Genet 2019;20:76CrossRefGoogle ScholarPubMed
Nash, R, Veness, J, Wyatt, M, Raglan, E, Rajput, K. Vestibular function in children with auditory neuropathy spectrum disorder. Int J Pediatr Otorhinolaryngol 2014;78:1269–73CrossRefGoogle ScholarPubMed
Starr, A, Picton, TW, Sininger, YS, Hood, LJ, Berlin, CI. Auditory neuropathy. Brain 1996;119:741–53CrossRefGoogle ScholarPubMed
Sheykholeslami, K, Kaga, K, Murofushi, T, Hughes, DW. Vestibular function in auditory neuropathy. Acta Otolaryngol 2000;120:849–54Google ScholarPubMed
Hu, J, Chen, Z, Zhang, Y, Xu, Y, Ma, W, Zhang, Y et al. Vestibular dysfunction in patients with auditory neuropathy detected by vestibular evoked myogenic potentials. Clin Neurophysiol 2020;131:1664–71CrossRefGoogle ScholarPubMed
Buss, E, Labadie, RF, Brown, CJ, Gross, AJ, Grose, JH, Pillsbury, HC. Outcome of cochlear implantation in pediatric auditory neuropathy. Otol Neurotol 2002;23:328–32CrossRefGoogle ScholarPubMed
de Carvalho, GM, Ramos, P, Arthur, C, Guimarães, A, Sartorato, E. Performance of cochlear implants in pediatric patients with auditory neuropathy spectrum disorder. J Int Adv Otol 2016;12:8–15CrossRefGoogle ScholarPubMed
Ehrmann-Müller, D, Back, D, Kühn, H, Hagen, R, Shehata-Dieler, W. Long-term treatment outcomes in children with auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol 2020;132:109938CrossRefGoogle Scholar
Rance, G, Starr, A. Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy. Brain 2015;138:3141–58CrossRefGoogle ScholarPubMed
Shearer, AE, Hansen, MR. Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Investig Otolaryngol 2019;4:429–40CrossRefGoogle ScholarPubMed