August 12, 2025

Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin.

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Case report shows significant improvement in a 5-year-old boy with BVVL and hearing loss, indicating riboflavin's potential role in treatment.

Significant improvement followed high-dose riboflavin supplementation in the child with BVVL, marking a landmark response.
Genetic testing revealed a homozygous variant in the SLC52A3 gene, confirming the diagnosis of BVVL.
Case assessment involved whole exome sequencing to identify genetic causes related to neurodegenerative disorders.
Highlights the importance of early riboflavin treatment for neuronal preservation and potential disease reversal.

Heidari et al. (2025) studied this question.

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Case report shows significant improvement in a 5-year-old boy with BVVL and hearing loss, indicating riboflavin's potential role in treatment.