S. Reddy

Brown-Vialetto-Von Laere syndrome: A case series with review of literature

Brown-Vialetto-Van Laere syndrome (BVVL) is an exceptionally rare juvenile-onset motor neuron disease characterized by progressive ponto-bulbar palsy, sensorineural hearing loss, and multiple cranial nerve involvement, caused by mutations in riboflavin transporter genes SLC52A1, SLC52A2, and SLC52A3. Fewer than 90 case...