{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:34:38Z","timestamp":1771929278430,"version":"3.50.1"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to riboflavin therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective analysis of three pediatric cases, integrating detailed clinical phenotyping with comprehensive genetic analysis (including whole-exome\/targeted sequencing, Sanger validation, and ACMG-based variant interpretation). To elucidate genotype-phenotype correlations, we interpreted these findings in the context of a literature review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All three patients carried compound heterozygous variants in the\n                      <jats:italic>SLC52A2<\/jats:italic>\n                      gene. Each exhibited early-onset PRCA (onset age: 2 days to 6 months; hemoglobin: 29\u201367\u2005g\/L) and progressive neurodegeneration, including motor regression, axonal peripheral neuropathy, and sensorineural hearing loss. Riboflavin supplementation led to normalization of hemoglobin levels within four weeks and marked improvement in neurological function.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare\n                      <jats:italic>SLC52A2<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1725574","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T06:45:49Z","timestamp":1770273949000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["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"],"prefix":"10.3389","volume":"14","author":[{"given":"Zhenzhen","family":"Chen","sequence":"first","affiliation":[{"name":"Child Healthcare Department, Dongguan Children\u2019s Hospital","place":["Dongguan, Guangdong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Landi","family":"Lai","sequence":"additional","affiliation":[{"name":"Children\u2019s Health Care Department, Dongguan Gaobu Hospital","place":["Dongguan, Guangdong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomei","family":"Lu","sequence":"additional","affiliation":[{"name":"Laboratory Department, Dongguan Children\u2019s Hospital","place":["Dongguan, Guangdong, China"]},{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics","place":["Dongguan, Guangdong, China"]},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan","place":["Dongguan, Guangdong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bomao","family":"Zhong","sequence":"additional","affiliation":[{"name":"Laboratory Department, Dongguan Children\u2019s Hospital","place":["Dongguan, Guangdong, China"]},{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics","place":["Dongguan, Guangdong, China"]},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan","place":["Dongguan, Guangdong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Peng","sequence":"additional","affiliation":[{"name":"Laboratory Department, Dongguan Children\u2019s Hospital","place":["Dongguan, Guangdong, China"]},{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics","place":["Dongguan, Guangdong, China"]},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan","place":["Dongguan, Guangdong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziqiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Child Healthcare Department, Dongguan Children\u2019s Hospital","place":["Dongguan, Guangdong, 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