Open AccessCochlear Implant in Brown–Vialetto–Van Laere Syndrome Patient
Author(s) -
Maria Stella Arantes do Amaral,
Eduardo Tanaka Massuda,
Guilherme Henrique Mitikami Fenólio,
Ana Cláudia Mirandôla Barbosa Reis,
Miguel Ângelo Hyppolito
Publication year - 2022
Publication title -
pubmed central
Language(s) - English
Resource type - Journals
eISSN - 2148-3817
DOI - 10.5152/iao.2022.21159
Subject(s) - medicine , hearing loss , sensorineural hearing loss , audiology , cochlear implant , ataxia , bulbar palsy , pediatrics , psychiatry
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.