The Journal of International
Advanced Otology
Case Report

Cochlear Implant in Brown–Vialetto–Van Laere Syndrome Patient

1.

Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, University of São Paulo Ribeirão Preto Medical School, São Paulo, Brazil

2.

Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, University of São Paulo Ribeirão Preto Medical School, Clinical Hospital, São Paulo, Brazil

3.

Department of Health Sciences – RCS- University of São Paulo Ribeirão Preto Medical School, São Paulo, Brazil

J Int Adv Otol 2022; 18: 192-195
DOI: 10.5152/iao.2022.21159
Read: 232 Downloads: 134 Published: 01 March 2022

The Brown–Vialetto–Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then. Hearing loss is the most common symptom of the syndrome, as most individuals have it through the development of the disease. Although there is a variation between the onset of hearing loss and the other possible symptoms, hearing loss usually begins in early childhood. Nevertheless, there are some cases describing hearing loss starting in adults. Hereby, we present a case report of a patient who started having the symptoms at the age of 14 and who had a mutation in the SLC52A3 gene, presenting with sensorineural hearing loss associated with cerebellar ataxia, who also underwent successful cochlear implant surgery.

Cite this article as: do Amaral MSA, Massuda ET, Mitikami Fenólio GH, Barbosa Reis ACM, Angelo Hyppolito M. Cochlear implant in brown–vialetto– van laere syndrome patient. J Int Adv Otol. 2022;18(2):192-195.

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