ArticleThe journal of international advanced otology2022
Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.
Article in The journal of international advanced otology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 7 citations in OpenAlex.
- SLC52A3-Related Riboflavin Transporter Deficiency in Two Saudi Siblings: A Case Report.Cureus · 2026Article
- Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.Developmental medicine and child neurology · 2025Article
- A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.The American journal of case reports · 2023Article
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5 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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.
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