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.
MeSH terms
-
Adult
-
Anemia, Megaloblastic / diagnosis
-
Anemia, Megaloblastic / drug therapy*
-
Anemia, Megaloblastic / genetics
-
Blood Glucose / metabolism
-
Diabetes Mellitus / diagnosis
-
Diabetes Mellitus / drug therapy*
-
Diabetes Mellitus, Type 1 / complications
-
Diabetes Mellitus, Type 1 / genetics
-
Diagnosis, Differential
-
Female
-
Hearing Loss, Sensorineural / complications
-
Hearing Loss, Sensorineural / diagnosis
-
Hearing Loss, Sensorineural / drug therapy*
-
Hearing Loss, Sensorineural / genetics
-
Humans
-
Hypothyroidism
-
Injections, Intramuscular
-
Myelodysplastic Syndromes
-
Thiamine / administration & dosage*
-
Thiamine / therapeutic use
-
Thiamine Deficiency / congenital*
-
Thiamine Deficiency / diagnosis
-
Thiamine Deficiency / drug therapy
-
Treatment Outcome
-
Vitamin B Complex / administration & dosage*
-
Vitamin B Complex / therapeutic use
Substances
-
Blood Glucose
-
Vitamin B Complex
-
Thiamine
Supplementary concepts
-
Thiamine responsive megaloblastic anemia syndrome