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

Abstract

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.