Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases

Brown-Vialetto- Van Laere (BVVL) syndrome is neurodegenerative condition, characterised by ponto-bulbar palsy and sensori-neural hearing loss. Since, this is a rare condition with common sign and symptoms, diagnosis is usually missed or delayed. The above condition is Riboflavin transporter defect which responds to riboflavin therapy. Molecular study confirmed the diagnosis and found recurrent pathogenic variation c.1238 C>A; p Val 413 Asp in exon 5 of SLC52A3 gene in present case. We tabulated all Indian cases of BVVL and highlighted their clinical features and genotype. BVVL type 1 is the most common type, reported from Indian patients.