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An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.
J Coll Physicians Surg Pak. 2019 Jun; 29(6):S13-S15.JC

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness. TRMA can generally be diagnosed in early childhood. Early diagnosis is important to prevent complications that may develop soon. As it is a rare disease, diagnosis may sometimes be difficult. We present a rare case of an adult patient with TRMA who had been mistakenly diagnosed with myelodysplastic syndrome (MDS), whose anemia was corrected only after thiamine treatment was started.

Authors+Show Affiliations

Department of Hematology, Faculty of Medicine, Baskent University, Konya, Turkey.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31142407

Citation

Kutlucan, Ali. "An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome." Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, vol. 29, no. 6, 2019, pp. S13-S15.
Kutlucan A. An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome. J Coll Physicians Surg Pak. 2019;29(6):S13-S15.
Kutlucan, A. (2019). An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 29(6), S13-S15. https://doi.org/10.29271/jcpsp.2019.06.S13
Kutlucan A. An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome. J Coll Physicians Surg Pak. 2019;29(6):S13-S15. PubMed PMID: 31142407.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome. A1 - Kutlucan,Ali, PY - 2018/11/22/received PY - 2019/02/06/accepted PY - 2019/5/31/entrez PY - 2019/5/31/pubmed PY - 2020/1/4/medline SP - S13 EP - S15 JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP JO - J Coll Physicians Surg Pak VL - 29 IS - 6 N2 - Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness. TRMA can generally be diagnosed in early childhood. Early diagnosis is important to prevent complications that may develop soon. As it is a rare disease, diagnosis may sometimes be difficult. We present a rare case of an adult patient with TRMA who had been mistakenly diagnosed with myelodysplastic syndrome (MDS), whose anemia was corrected only after thiamine treatment was started. SN - 1681-7168 UR - https://www.unboundmedicine.com/medline/citation/31142407/An_Adult_Case_of_Thiamine_Sensitive_Megaloblastic_Anemia_Syndrome_Accidentally_Diagnosed_Myelodysplastic_Syndrome_ L2 - http://www.diseaseinfosearch.org/result/4562 DB - PRIME DP - Unbound Medicine ER -