Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family.

Abstract

Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is caused by mutations in the riboflavin transporter genes SLC52A2 ( RFVT2 ) or SLC52A3 ( RFVT3 ).2,3 It is a rare syndrome with approximately 70 cases reported worldwide, with molecular diagnoses of RFVT2 or RFVT3 .1,4 We have previously described the first Brazilian family with a clinical diagnosis of BVVL.5 The authors acknowledge the patients who participated in this study.