2 research outputs found
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
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
In this report, we extend the clinical spectrum associated with this family and describe a new
mutation related to the metabolism of riboflavin