Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human
riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the
clinical course of a 6-year-old girl with
Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness,
hearing loss,
dysphagia, anarthria with bilateral
vocal cord paralysis, and ataxic gait. She subsequently developed
respiratory failure requiring
tracheostomy and worsening
dysphagia necessitating a
gastrostomy. Following
riboflavin supplementation, resolution of facial diplegia and
ataxia, improvements in ptosis, and bulbar function including vocalization and respiration were noted. However, her
sensorineural hearing loss remained unchanged. Similar to other cases of
Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early
riboflavin supplementation with significant but not complete neurologic recovery.