Child neurology: Brown-Vialetto-Van Laere syndrome Dramatic visual recovery after delayed riboflavin therapy

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare, progressive neurodegenerative disease with fewer than 100 cases reported in the literature. It is characterized by pontobulbar palsy and sensorineural hearing loss.¹ The age at onset varies from infancy to early adulthood, commonly presenting with cranial nerve VII-XII palsies and deafness. Other findings include gait ataxia, limb weakness, optic atrophy, epilepsy, and respiratory compromise.¹ The genetic etiology of BVVL has recently been linked to mutations affecting the riboflavin transporter genes SLC52A2 and SLC52A3, which code for human riboflavin transporters RFVT2 and RFVT3, respectively.² Consequentially, several studies have reported improved clinical outcomes with riboflavin supplementation in patients confirmed to have mutations in the SLC52A2 and SLC52A3 genes.³-⁷ In this report, we describe a case of BVVL in a 6-year-old girl with dramatic visual recovery and neurologic improvement after delayed initiation of riboflavin supplementation. Consent was obtained from the child's parents.