Excellent response to high-dose Riboflavin in Brown-Vialetto-Van Laere syndrome: A case report.
Aasim Ali, Armaghana Abdullah, Hafiz Muhammad Yousaf Masood et al.
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Case in brief
A young Asian man presented with progressive bilateral hearing loss, dysphagia, limb weakness, and respiratory issues. Neurological examination revealed significant deficits, and genetic testing confirmed pathogenic variants in SLC52A3, diagnosing him with Brown-Vialetto-Van Laere syndrome. High-dose riboflavin was initiated, leading to marked improvements in respiratory function, limb strength, and overall neurological status within six months.
Diagnostic / clinical pearl
Clinicians should consider riboflavin transporter deficiency type 3 in young patients with progressive sensorineural hearing loss and bulbar or respiratory dysfunction, especially with a relevant family history.
Why it matters
Prompt recognition and treatment of this condition with high-dose riboflavin can significantly improve clinical outcomes and stabilize disease progression.