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

摘要

Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] orFazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbarpalsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is caused by mutations inthe riboflavin transporter genes SLC52A2 (RFVT2) or SLC52A3 (RFVT3).2,3 It is a raresyndrome with approximately 70 cases reported worldwide, with molecular diagnoses ofRFVT2 or RFVT3.1,4 We have previously described the first Brazilian family with a clinicaldiagnosis of BVVL.5In this report, we extend the clinical spectrum associated with this family and describe a newmutation related to the metabolism of riboflavin.