Abstract：
We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.
摘要：
我们报告了一名26岁的女孩，她在童年时被诊断出患有糖尿病，并接受了胰岛素治疗。她童年时期有视力障碍和贫血史，进行了部分评估；考虑了综合征性糖尿病的可能性。进行了遗传分析，发现SLC19A2基因有突变，确认硫胺素反应性巨幼细胞性贫血的诊断。她补充了硫胺素，大大改善了她的血红蛋白水平和血糖控制.然而,她的视力无法挽救，因为棒锥营养不良是一种永久性损害。
