Brown–Vialetto–Van Laere syndrome: Case Report of Dramatic Response to Riboflavin Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin
Iranian Journal of Child Neurology,
Vol. 19 No. 3 (2025),
25 Tir 2025
,
Page 83-86
https://doi.org/10.22037/ijcn.v19i3.46308
Abstract
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease
- Brown-Vialetto-van Laere syndrome
- Riboflavin
- Mutation
- sensorineural hearing loss.
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References
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