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Published on: April 6, 2022
Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin
Morteza Heidari1,2, Masood Ghahvechi Akbari3, Golazin ShahbodaghKhan1,2
1Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
None:
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.
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