A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome

Abstract

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive
axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory
failure associated with mutations in the SLC52A2 and SLC52A3 genes that
code for the human riboflavin transporters RFVT2 and RFVT3, respectively. Nearly
70 cases have been reported by molecular diagnosis. The majority of familial cases
are autosomal recessive, with a female to male ratio of 3:1. We describe the clinical
case of a 14 years-old boy with BVVLS who presented from a young age with
progressive sensorineural hearing loss of insidious onset, followed by atrophy of the
tongue with fasciculations. Sometimes the clinical spectrum mimics juvenile-onset
motor neuron disease (MND). It is important to identify BVVLS that may respond to
high doses of riboflavin.