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.

Keywords

• Brown-Viletto-Van-Laere syndrome
• SLC52A2
• Riboflavin transporter