What question did this study set out to answer?

To report cases of Brown-Vialetto-Van Laere syndrome type 2 presenting with pure red cell aplasia and analyze the molecular basis and clinical response.

February 8, 2026Frontiers in PediatricsOpen Access

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

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Authors

ZCZhenzhen ChenDongguan People’s Hospital LLLandi LaiDongguan People’s Hospital XLXiaomei LuDongguan People’s Hospital

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Implication

Case report demonstrates riboflavin therapy's effectiveness for pure red cell aplasia in children with BVVLS2, suggesting new treatment insights.

Key Points

To report cases of Brown-Vialetto-Van Laere syndrome type 2 presenting with pure red cell aplasia and analyze the molecular basis and clinical response.
Retrospective analysis of three pediatric cases
Clinical phenotyping and genetic analysis including whole-exome sequencing
Sanger validation and variant interpretation based on ACMG guidelines
All patients had compound heterozygous variants in the SLC52A2 gene
Onset of pure red cell aplasia occurred between 2 days and 6 months of age
Riboflavin therapy normalized hemoglobin levels within four weeks and improved neurological function

Cite This Study

Chen et al. (2026) studied this question.

synapsesocial.com/papers/698828fd0fc35cd7a8848f15 https://doi.org/10.3389/fped.2026.1725574

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Implication

Case report demonstrates riboflavin therapy's effectiveness for pure red cell aplasia in children with BVVLS2, suggesting new treatment insights.

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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