Ayush Yadav, Akshaya Dayal, Shubham Kashyap, Rajniti Prasad*, Ankur Singh and Abhisek Abhinay

Department of Pediatrics, Institute of Medical Sciences, B.H.U., Varanasi-221005, India

*Corresponding Author: Rajniti Prasad, Professor and Chief, Division of Pediatric Neurology, Department of Pediatrics, Institute of Medical Sciences, B.H.U., Varanasi-221005, India.

Received: September 02, 2026; Published: September 24, 2026

Brown–Vialetto–Van Laere syndrome (BVVLS) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in riboflavin transporter genes. We report an 11-year boy who presented with progressive myopathy. In view of the progressive neuromuscular phenotype, whole-exome sequencing was performed,which identified a homozygous missense variant in the SLC52A2 gene, c.401C>T (p.Pro134Leu), associated with Brown–Vialetto–Van Laere syndrome type 2. Although classified as a likely pathogenic, the patient’s clinical features demonstrated a strong phenotypic correlation with SLC52A2-related riboflavin transporter deficiency. This case expands the clinical and genetic spectrum of SLC52A2-associated disease and highlights the importance of genetic testing in children with unexplained progressive neuromuscular weakness.

Keywords: BVVL (Brown–Vialetto–Van Laere Syndrome); Riboflavin Transporter Genes, Myopathy

References

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Citation

Citation: Rajniti Prasad., et al. “Brown–Vialetto–Van Laere Syndrome Type 2 in a Child: A Case Report with Review Of Literature". Acta Scientific Neurology 9.10 (2026): 03-06.

Copyright

Copyright: ©2026 Rajniti Prasad., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.