Khurshid Ayesha, Fatimah Sarah, Altaf Chaudhry, Malik Hamid Saeed, Sajjad Zunera, Khadim Muhammad Tahir
Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.
Department of Histopathology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.
J Coll Physicians Surg Pak. 2018 Sep;28(9):S169-S171. doi: 10.29271/jcpsp.2018.09.S169.
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report a case of 2-year-old girl whose anemia improved following administration of thiamine. She came with the history of persistent anaemia for the last one year. Anaemia was not responding to iron, vitamin B12, and folate replacement therapy. The bone marrow aspiration revealed hypercellular marrow with megaloblastic changes and more than 15% ring sideroblasts. The hearing assessment revealed sensorineural hearing loss. Blood sugar random and HBA1c was raised. Final diagnosis of TRMA was made. She was started on thiamine 100 mg OD, with normal routine balanced diet. She responded very well to thiamine. Her haemoglobin improved and blood sugar fasting came down in normal range. This case report sensitises the early diagnosis, and treatment with thiamine in children presenting with anemia, diabetes and deafness.
硫胺素反应性巨幼细胞贫血（TRMA）综合征是一种常染色体隐性遗传性疾病，其特征为巨幼细胞贫血、糖尿病和感音神经性耳聋三联征。我们报告一例2岁女童，其贫血在给予硫胺素后有所改善。她有过去一年持续贫血的病史。贫血对铁、维生素B12和叶酸替代治疗无反应。骨髓穿刺显示骨髓细胞增多，有巨幼细胞改变，环形铁粒幼细胞超过15%。听力评估显示有感音神经性听力损失。随机血糖和糖化血红蛋白升高。最终诊断为TRMA。开始给予她每日100毫克硫胺素，并给予正常的常规均衡饮食。她对硫胺素反应非常良好。她的血红蛋白改善，空腹血糖降至正常范围。本病例报告提高了对出现贫血、糖尿病和耳聋的儿童进行早期诊断及用硫胺素治疗的认识。
