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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: [email protected]
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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

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