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An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.

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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.… Click to show full 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.

Keywords: anemia; myelodysplastic syndrome; case; diagnosed myelodysplastic; syndrome; megaloblastic anemia

Journal Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Year Published: 2019

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