TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

BMC Pediatrics

Qing Cheng¹  Yu Ding¹  Xiumin Wang¹  Qun Li¹  Xin Li¹  Ruen Yao²  Jian Wang² 

[1] Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine;Department of Medical Genetics and Molecular Diagnostics, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine;

关键词: Thiamine-responsive megaloblastic anemia;    SLC19A2 gene;    Novel mutation;    Diabetes;    Deafness;   

DOI  :  10.1186/s12887-019-1608-2

来源: DOAJ

【 摘 要 】

Abstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. Case presentation Here, we describe a six-year-old boy with diabetes mellitus, anemia, and deafness. Additionally, he presented with thrombocytopenia, leukopenia, horizontal nystagmus, hepatomegaly, short stature, ventricular premature beat (VPB), and cerebral infarction. DNA sequencing revealed a novel compound heterozygous mutation in the SLC19A2 gene: (1) a duplication c.405dupA, p.Ala136Serfs*3 (heterozygous) and (2) a nucleotide deletion c.903delG p.Trp301Cysfs*13 (heterozygous). The patient was diagnosed with a typical TRMA. Conclusion Novel mutations in the SLC19A2 gene have been identified, expanding the mutation spectrum of the SLC19A2 gene. For the first time, VPB and cerebral infarction have been identified in patients with TRMA syndrome, providing a new understanding of the phenotype.

【 授权许可】

Unknown