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Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation

Published online by Cambridge University Press:  21 May 2015

R Chandran ,
M Alexander ,
P Naina  and
A Balraj
R Chandran
Affiliation:
Audiovestibular Unit, Department of ENT, Christian Medical College, Vellore, India
M Alexander
Affiliation:
Department of Neurosciences, Christian Medical College, Vellore, India
P Naina
Affiliation:
Audiovestibular Unit, Department of ENT, Christian Medical College, Vellore, India
A Balraj*
Affiliation:
Audiovestibular Unit, Department of ENT, Christian Medical College, Vellore, India
*
Address for correspondence: Dr A Balraj, Audiovestibular Unit, Department of ENT, Christian Medical College, Vellore-632004, Tamil Nadu, India. Fax: +91-0416-2232035 E-mail: sujabalraj@gmail.com
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Abstract

Background:

Brown–Vialetto–Van Laere syndrome is a rare neurological disorder characterised by pontobulbar palsy and sensorineural hearing loss. Hearing rehabilitation continues to be a challenge because the exact lesion site is unknown.

Case report:

We examined the clinical and audiological profiles of a case series comprising four siblings with Brown–Vialetto–Van Laere syndrome who had decreased hearing and poor speech discrimination. Audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and middle-ear reflexes in sensorineural hearing loss, suggestive of auditory neuropathy spectrum disorder.

Conclusion:

The sensorineural hearing loss in Brown–Vialetto–Van Laere syndrome patients is a retrocochlear pathology resembling auditory neuropathy spectrum disorder, with the lesion being most probably of post-synaptic origin. Early cochlear implantation along with high-dose riboflavin represents a possible rehabilitation therapy. However, further research is needed to confirm this. This report emphasises the need for a thorough neurological evaluation of auditory neuropathy spectrum disorder patients.

Keywords

Brown–Vialetto–Van Laere SyndromeEvoked Potential, Auditory, BrainstemOtoacoustic Emissions, SpontaneousCochlear Implantation
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 129 , Issue 5 , May 2015 , pp. 504 - 508
Copyright
Copyright © JLO (1984) Limited 2015 

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References

1Sathasivam, S. Brown–Vialetto–Van Laere syndrome. Orphanet J Rare Dis 2008;17:3–9Google Scholar
2Prabhu, HV, Brown, MJ. Brown–Vialetto–Van Laere Syndrome – a rare syndrome in otology. J Laryngol Otol 2005;119:470–2CrossRefGoogle ScholarPubMed
3Sinnathuray, AR, Watson, DR, Fruhstorfer, B, Olarte, JR, Toner, JG. Cochlear implantation in Brown–Vialetto–Van-Laere syndrome. J Laryngol Otol 2011;125:314–17CrossRefGoogle ScholarPubMed
4Mégarbané, A, Desguerres, I, Rizkallah, E, Delague, V, Nabbout, R, Barois, A et al. Brown–Vialetto–Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? Am J Med Genet 2000;92:117–213.0.CO;2-C>CrossRefGoogle Scholar
5Hawkins, 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
6De Grandis, D, Passadore, P, Chinaglia, M, Brazzo, F, Ravenni, R, Cudia, P. Clinical features and neurophysiological follow-up in a case of Brown–Vialetto–Van Laere syndrome. Neuromuscul Disord 2005;15:565–8CrossRefGoogle Scholar
7Starr, A, Picton, TW, Sininger, Y, Hood, LJ, Berlin, CI. Auditory neuropathy. Brain 1996;119:741–53CrossRefGoogle ScholarPubMed
8Giraudet, F, Avan, P. Auditory neuropathies: understanding their pathogenesis to illuminate intervention strategies. Curr Opin Neurol 2012;25:50–6CrossRefGoogle ScholarPubMed
9Walton, J, Gibson, WP, Sanli, H, Prelog, K. Predicting cochlear implant outcomes in children with auditory neuropathy. Otol Neurotol 2008;29:302–9CrossRefGoogle ScholarPubMed
10Green, 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 c20 or f54. Am J Hum Genet 2010;86:485–9CrossRefGoogle Scholar
11Yamamoto, S, Inoue, K, Ohta, KY, Fukatsu, R, Maeda, JY, Yoshida, Y et al. Identification and functional characterization of rat riboflavin transporter 2. J Biochem 2009;145:437–43CrossRefGoogle ScholarPubMed
12Bosch, AM, Abeling, NG, Ijst, L, Knoester, H, van der Pol, WL, Stroomer, AE et al. Brown–Vialetto–Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011;34:159–64CrossRefGoogle ScholarPubMed
13Gregersen, N. Riboflavin-responsive defects of beta-oxidation. J Inherit Metab Dis 1985;8:65–9CrossRefGoogle ScholarPubMed
14Trussell, LO. Synaptic mechanisms for coding timing in auditory neurons. Annu Rev Physiol 1999;61:477–96CrossRefGoogle ScholarPubMed
15Walton, J, Gibson, WP, Sanli, H, Prelog, K. Predicting cochlear implant outcomes in children with auditory neuropathy. Otol Neurotol 2008;29:302–9CrossRefGoogle ScholarPubMed
16Francis, DA, Ponsford, JR, Wiles, CM, Thomas, PK, Duchen, LW. Brown–Vialetto–Van Laere syndrome. Neuropathol Appl Neurobiol 1993;19:91–4CrossRefGoogle ScholarPubMed
17Koul, R, Jain, R, Chacko, A, Alfutaisi, A, Hashim, J, Chacko, J. Pontobulbar palsy and neurosensory deafness (Brown–Vialetto–van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings. J Child Neurol 2006;21:523–5CrossRefGoogle ScholarPubMed
18Santarelli, R. Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. Genome Med 2010;2:91–101CrossRefGoogle ScholarPubMed
19Anand, G, Hasan, N, Jayapal, S, Huma, Z, Ali, T, Hull, J et al. Early use of high-dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome. Dev Med Child Neurol 2012;54:187–9CrossRefGoogle Scholar
20Zeng, FG, Kong, YY, Michalewski, HJ, Starr, A. Perceptual consequences of disrupted auditory nerve activity. J Neurophysiol 2005;93:3050–63CrossRefGoogle ScholarPubMed