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

Autor: Ali Kutlucan
Rok vydání: 2019
Předmět:
Zdroj: Journal of the College of Physicians and Surgeons Pakistan. 29:S13-S15
ISSN: 1681-7168
1022-386X
DOI: 10.29271/jcpsp.2019.06.s13
Popis: 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.
Databáze: OpenAIRE