Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children

This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare <i>SLC52A2</i> variants in the Chinese population. Early riboflavin treatment effectively reversed anemia and partially improved neurological deficits, which may inform a new diagnostic and therapeutic approach for unexplained PRCA accompanied by neurodegenerative features.