Abstract

Pediatric Blood & CancerEarly View e30396 LETTER TO THE EDITOR Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown–Vialetto–Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia Yanxia Chen, Yanxia Chen Department of Rheumatology and Immunology, South China Hospital, Medical School, Shenzhen University, Shenzhen, Guangdong, ChinaSearch for more papers by this authorJiwei Zhao, Jiwei Zhao Department of Laboratory Medicine, Nanjing Lishui District Hospital of TraditionalChinese Medicine, Nanjing, Jiangsu, ChinaSearch for more papers by this authorA. Patrick McLinden, A. Patrick McLinden Division of Pulmonary and Critical Care Medicine, University of Michigan Health System, Ann Arbor, Michigan, USASearch for more papers by this authorMeizhu Luo, Meizhu Luo Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, ChinaSearch for more papers by this authorKe Cao, Corresponding Author Ke Cao [email protected] Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China Correspondence Ke Cao, Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China. Email: [email protected] Jinlin Liu, Department of Clinical Laboratory, South China Hospital, 1 Fuxin Rd, Shenzhen, 518111, Guangdong, China. Email: [email protected]Search for more papers by this authorJinlin Liu, Corresponding Author Jinlin Liu [email protected] orcid.org/0000-0003-0502-4813 Department of Clinical Laboratory, South China Hospital, Medical School, Shenzhen University, Shenzhen, Guangdong, China Correspondence Ke Cao, Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China. Email: [email protected] Jinlin Liu, Department of Clinical Laboratory, South China Hospital, 1 Fuxin Rd, Shenzhen, 518111, Guangdong, China. Email: [email protected]Search for more papers by this author Yanxia Chen, Yanxia Chen Department of Rheumatology and Immunology, South China Hospital, Medical School, Shenzhen University, Shenzhen, Guangdong, ChinaSearch for more papers by this authorJiwei Zhao, Jiwei Zhao Department of Laboratory Medicine, Nanjing Lishui District Hospital of TraditionalChinese Medicine, Nanjing, Jiangsu, ChinaSearch for more papers by this authorA. Patrick McLinden, A. Patrick McLinden Division of Pulmonary and Critical Care Medicine, University of Michigan Health System, Ann Arbor, Michigan, USASearch for more papers by this authorMeizhu Luo, Meizhu Luo Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, ChinaSearch for more papers by this authorKe Cao, Corresponding Author Ke Cao [email protected] Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China Correspondence Ke Cao, Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China. Email: [email protected] Jinlin Liu, Department of Clinical Laboratory, South China Hospital, 1 Fuxin Rd, Shenzhen, 518111, Guangdong, China. Email: [email protected]Search for more papers by this authorJinlin Liu, Corresponding Author Jinlin Liu [email protected] orcid.org/0000-0003-0502-4813 Department of Clinical Laboratory, South China Hospital, Medical School, Shenzhen University, Shenzhen, Guangdong, China Correspondence Ke Cao, Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China. Email: [email protected] Jinlin Liu, Department of Clinical Laboratory, South China Hospital, 1 Fuxin Rd, Shenzhen, 518111, Guangdong, China. Email: [email protected]Search for more papers by this author First published: 02 May 2023 https://doi.org/10.1002/pbc.30396 Yanxia Chen, Jiwei Zhao, A. Patrick McLinden, and Meizhu Luo contributed equally to this work. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Naami N, Borkhardt A, Yoshimi A, Grinstein L, Escherich G. Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown–Vialetto–Van Laere syndrome 2. Am J Hematol. 2022; 97(11): 1495- 1496. 2Zhao S, Che F, Yang L, et al. First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown–Vialetto–Van Laere syndrome type 2 and an analysis of genotype-phenotype correlations. Front Genet. 2022; 13:977914. 3Sieff C. Diamond–Blackfan anemia. In: MP Adam, GM Mirzaa, RA Pagon, eds. GeneReviews. University of Washington, Seattle; 1993. 4Plantone D, Pardini M, Rinaldi G. Riboflavin in neurological diseases: a narrative review. Clin Drug Investig. 2021; 41(6): 513- 527. 5Cali E, Dominik N, Manole A, Houlden H. Riboflavin transporter deficiency. In: MP Adam, GM Mirzaa, RA Pagon, eds. GeneReviews. University of Washington, Seattle; 1993. 6Aljaadi AM, Devlin AM, Green TJ. Riboflavin intake and status and relationship to anemia. Nutr Rev. 2022; 81(1): 114- 132. 7Pillai NR, Amin H, Gijavanekar C, et al. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020; 182(11): 2781- 2787. Early ViewOnline Version of Record before inclusion in an issuee30396 ReferencesRelatedInformation

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call