Brown-Vialetto-Van Laere syndrome is a rare neurological disease with progressive pontobulbar palsy, sensorineural hearing loss, and respiratory compromise, associated with compound heterozygous or homozygous mutations in the SLC52A3 and SLC52A2 genes.2,6 A recent review article reported 70 patients with a molecular diagnosis of riboflavin transporter deficiency, and 33 of them had mutations in the SLC52A3 gene.2 To the best of our knowledge, the c.1156T>C mutation in exon 4 of SLC52A3 found in our patient has not been reported in the literature. The gene discussed is SLC52A3; the disease is nervous system disorder.