• Ayesha Khurshid, Sarah Fatimah, Chaudhry Altaf, Hamid Saeed Malik, Zunera Sajjad, and Muhammad Tahir Khadim.
• Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.
• J Coll Physicians Surg Pak. 2018 Sep 1; 28 (9): S169S171S169-S171.

AbstractThiamine-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.

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