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

Ali Kutlucan
2019 Journal of the College of Physicians and Surgeons  
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
more » ... astic syndrome (MDS), whose anemia was corrected only after thiamine treatment was started.
doi:10.29271/jcpsp.2019.06.s13 pmid:31142407 fatcat:kqrej5aqwzga7oarw6ahj7ipk4