G. P. Palladino

Autosomal dominant Brown-Vialetto-Van Laere syndrome: a new case and systematic review of a treatable neurometabolic disorder

Brown-Vialetto-Van Laere (BVVL) syndrome is a rare neurodegenerative disorder caused by mutations in SLC52A2 or SLC52A3 , impairing riboflavin transport. It typically presents with sensorineural hearing loss, progressive ponto-bulbar palsy, peripheral neuropathy, and occasional respiratory compromise. While...