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Cochlear Implantation in Brown–Vialetto–Van-Laere syndrome

Published online by Cambridge University Press:  19 October 2010

A R Sinnathuray ,
D R Watson ,
B Fruhstorfer ,
J R Olarte  and
J G Toner
A R Sinnathuray*
Affiliation:
Northern Ireland Regional Cochlear Implant Centre, Belfast City Hospital, Northern Ireland, UK
D R Watson
Affiliation:
Department of Mental Health, Queen's University Belfast, Belfast City Hospital, Northern Ireland, UK
B Fruhstorfer
Affiliation:
Northern Ireland Regional Cochlear Implant Centre, Belfast City Hospital, Northern Ireland, UK
J R Olarte
Affiliation:
Northern Ireland Regional Cochlear Implant Centre, Belfast City Hospital, Northern Ireland, UK
J G Toner
Affiliation:
Northern Ireland Regional Cochlear Implant Centre, Belfast City Hospital, Northern Ireland, UK
*
Address for correspondence: Mr A R Sinnathuray, 30 The Boulevard, Wellington Square, off Annadale Avenue, Belfast BT7 3LN, Northern Ireland, UK Fax: 02890263549 E-mail: rajsinn@aol.com
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Abstract

Objective:

To report outcomes for the first known cochlear implantation procedures in two patients with Brown–Vialetto–Van-Laere syndrome.

Patients:

Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with Brown–Vialetto–Van-Laere syndrome. The female patient presented with a milder form of the syndrome.

Intervention:

Cochlear implantation.

Main outcome measure:

Post-implantation speech discrimination scores.

Results:

Auditory evoked potential testing suggested pathological changes in both patients' cochleae, auditory nerves, brainstem and (probably) central auditory pathways. In the male patient, despite implantation of the better ear, the Bamford–Kowal–Bench sentence score was zero at 21 months post-implantation. In the female patient, Bamford–Kowal–Bench sentence scores at six months post-implantation were 25 per cent in quiet and 3 per cent in noise.

Conclusion:

These poor clinical outcomes appear to be related to retrocochlear and probable central auditory pathway degeneration.

Keywords

Cochlear ImplantationBrown–Vialetto–Van Laere SyndromeProgressive Bulbar PalsySensorineural Hearing LossAuditory Evoked Potentials
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 125 , Issue 3 , March 2011 , pp. 314 - 317
Copyright
Copyright © JLO (1984) Limited 2010

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References

1Gallai, 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 ScholarPubMed
2Vialetto, E. Contribution to the inherited form of progressive bulbar palsy [in Italian]. Riv Sper Freniat 1936;40:1–24Google Scholar
3Van Laere, J. Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems [in French]. Rev Neurol (Paris) 1966;115:289–95Google ScholarPubMed
4Boudin, G, Pepin, B, Vernant, JC, Gautier, B, Gouerou, H. Familial case of chronic progressive bulbo-pontine paralysis with deafness [in French]. Rev Neurol (Paris) 1971;124:90–2Google ScholarPubMed
5Megarbane, 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
6Francis, DA, Ponsford, JR, Wiles, CM, Thomas, PK, Duchen, LW. Brown-Vialetto-Van Laere syndrome. Neuropathol Appl Neurobiol 1993;19:91–4CrossRefGoogle ScholarPubMed
7Aydin, OF, Ozcelikel, D, Senbil, N, Gurer, YK. Brown-Vialetto-van Laere syndrome; the first Turkish case. Acta Neurol Belg 2004;104:111–13Google ScholarPubMed
8Dipti, S, Childs, AM, Livingston, JH, Aggarwal, AK, Miller, M, Williams, C et al. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 2005;27:443–6CrossRefGoogle ScholarPubMed
9Wood, VH, Bird, PA, Giles, EC, Baber, WJ. Unsuccessful cochlear implantation in two patients with superficial siderosis of the central nervous system. Otol Neurotol 2008;29:622–5CrossRefGoogle ScholarPubMed
10Sztajzel, R, Kohler, A, Reichart, M, Djientcheu, VP, Chofflon, M, Magistris, MR. Brown-Vialetto-Van Laere syndrome: a case with anti-ganglioside GM1 antibodies and literature review [in French]. Rev Neurol (Paris) 1998;154:51–4Google ScholarPubMed
11Voudris, KA, Skardoutsou, A, Vagiakou, EA. Infantile progressive bulbar palsy with deafness. Brain Dev 2002;24:732–5CrossRefGoogle ScholarPubMed
12Sathasivam, S, O'Sullivan, S, Nicolson, A, Tilley, PJ, Shaw, PJ. Brown-Vialetto-Van Laere syndrome: case report and literature review. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:277–81CrossRefGoogle ScholarPubMed
13Fell, D. Anesthesia in Brown-Vialetto-Van Laere syndrome. Paediatr Anaesth 2009;19:1130–1CrossRefGoogle ScholarPubMed
14Kraus, N, McGee, TJ, Koch, DB. Speech sound representation, perception, and plasticity: a neurophysiologic perceptive. Audiol Neurootol 1998;3:168–82CrossRefGoogle ScholarPubMed
15Ponton, CW, Don, M, Eggermont, JJ, Waring, MD, Kwong, B, Masuda, A. Auditory system plasticity in children after long periods of complete deafness. Neuroreport 1996;8:61–5CrossRefGoogle ScholarPubMed
16Ponton, CW, Don, M, Eggermont, JJ, Waring, MD, Masuda, A. Maturation of human cortical auditory function: differences between normal-hearing children and children with cochlear implants. Ear Hear 1996;17:430–7CrossRefGoogle ScholarPubMed
17Blamey, P. Are spiral ganglion cell numbers important for speech perception with a cochlear implant? Am J Otol 1997;18(6 Suppl):S11–12Google ScholarPubMed
18Fayad, J, Linthicum, FH Jr, Otto, SR, Galey, FR, House, WF. Cochlear implants: histopathologic findings related to performance in 16 human temporal bones. Ann Otol Rhinol Laryngol 1991;100:807–11CrossRefGoogle ScholarPubMed