Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

Brown–Vialetto–Van Laere (BVVL) is a rare neurodegenerative isorder caused by mutations in the human intestinal riboflavin ransporter genes, leading to riboflavin deficiency. It is characerised by bulbar palsy, respiratory insufficiency and sensorineural eafness. Some cases of BVVL have been successfully treated with iboflavin supplementation. Although BVVL is most commonly iagnosed in children it may also present in adults. We describe case of BVVL in a 27-year-old female.