Brown Vialetto Van Laere syndrome: first Peruvian case report

• Autores: Martínez-Esteban, Peggy Carol, Alvarez-Toledo, Kelvin Harold, Mattos-Castillo, Edson Jair, Méndez-Dávalos, Carlos
• Formato: artículo
• Fecha de Publicación: 2023
• Institución: Instituto Nacional de Salud del Niño San Borja
• Repositorio: INSNS - Revistas
• Lenguaje: español
• OAI Identifier: oai:ojs.pkp.sfu.ca:article/14
• Enlace del recurso: https://investigacionpediatrica.insnsb.gob.pe/index.php/iicqp/article/view/14
• Nivel de acceso: acceso abierto
• Materia: Deficiencia de Riboflavina; Parálisis Bulbar Progresiva; Hipoacusia Neurosensorial; Riboflavin Deficiency; Bulbar Palsy, Progressive; Hearing Loss, Sensorineural

The Brown Vialetto Van Laere Syndrome (BVVLS), also known as Riboflavin Transporter Deficiency, is an autosomal recessive neurodegenerative disorder that is infrequently observed. This condition is associated with mutations in the SLC52A2 and SLC52A3 genes, which code for the riboflavin transporter.Clinically, it is characterized by progressive ponto-bulbar palsy and sensorineural hearing loss. We describe the clinical presentation of a 1 year and 10 months old boy diagnosed with BVVLS. This patient experienced progressive ponto-bulbar palsy, respiratory compromise, and sensorineural hearing lossbut showed a positive response to the treatment implemented. Through genetic studies, a homozygous mutation in the SLC52A3 gene, specifically the c.1156T>C (p.Cys386Arg) variant, was identified. Upon conducting the segregation study in the parents, the same variant was detected in a heterozygous state.The Brown Vialetto Van Laere Syndrome is a potentially treatable condition, highlighting the importance of its accurate diagnosis and the early empirical supplementation with riboflavin.