Cochlear Implant in Brown–Vialetto–Van Laere Syndrome Patient

• Published in: Journal of International Advanced Otology Vol. 18; no. 2; pp. 192 - 195
• Main Authors: Stella Arantes do Amaral, Maria, Massuda, Eduardo T., Mitikami Fenólio, Guilherme Henrique, Cláudia Mirândola Barbosa Reis, Ana, Angelo Hyppolito, Miguel
• Format: Journal Article
• Language: English
• Published: Turkey AVES 01.03.2022; AVES Yayincilik A.S; Mediterranean Society for Otology and Audiology; European Academy of Otology and Neurotology and the Politzer Society
• Subjects: Adolescent; Ataxia; Atrophy; Bulbar Palsy, Progressive - complications; Bulbar Palsy, Progressive - diagnosis; Bulbar Palsy, Progressive - genetics; Case Report; Cochlear Implants; Deafness; Ethics; Genes; Hearing loss; Hearing Loss, Sensorineural - complications; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - surgery; Humans; Implants, Artificial; Magnetic resonance imaging; Membrane Transport Proteins - genetics; Mutation; Nervous system diseases; Patients; Prosthesis; Speech; Surgery; Transplants & implants; Vitamin B; Voice recognition; Brazil
• DOI: 10.5152/iao.2022.21159
• ISSN: 2148-3817; 1308-7649

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.