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Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
J Coll Physicians Surg Pak. 2018 Sep; 28(9):S169-S171.JC

Abstract

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.

Authors+Show Affiliations

Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.Department of Histopathology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30173687

Citation

Khurshid, Ayesha, et al. "Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child." Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, vol. 28, no. 9, 2018, pp. S169-S171.
Khurshid A, Fatima S, Altaf C, et al. Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. J Coll Physicians Surg Pak. 2018;28(9):S169-S171.
Khurshid, A., Fatima, S., Altaf, C., Malik, H. S., Sajjad, Z., & Khadim, M. T. (2018). Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 28(9), S169-S171. https://doi.org/10.29271/jcpsp.2018.09.S169
Khurshid A, et al. Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. J Coll Physicians Surg Pak. 2018;28(9):S169-S171. PubMed PMID: 30173687.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. AU - Khurshid,Ayesha, AU - Fatima,Sarah, AU - Altaf,Chaudhry, AU - Malik,Hamid Saeed, AU - Sajjad,Zunera, AU - Khadim,Muhammad Tahir, PY - 2017/12/15/received PY - 2018/05/14/accepted PY - 2018/9/4/entrez PY - 2018/9/4/pubmed PY - 2019/1/12/medline SP - S169 EP - S171 JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP JO - J Coll Physicians Surg Pak VL - 28 IS - 9 N2 - 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. SN - 1681-7168 UR - https://www.unboundmedicine.com/medline/citation/30173687/Thiamine_Responsive_Megaloblastic_Anaemia_Diabetes_Mellitus_and_Sensorineural_Hearing_Loss_in_a_Child_ L2 - http://www.diseaseinfosearch.org/result/6504 DB - PRIME DP - Unbound Medicine ER -