Introduction: Thiamine responsive megaloblastic anemia (TRMA) syndrome, also known Rogers syndrome is a rare autosomal recessive inherited disorder characterized by a triad features of megaloblastic anemia, sensorineural deafness and diabetes mellitus. TRMA manifestation is caused by mutations in the gene SLC19A2 encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells.
Case Presentation: We report a case of TRMA syndrome in a 16-year-old boy now. He has been the third child of first degree consanguineous parents. He was born at full term after uncomplicated pregnancy. At the age of 7 months, megaloblastic anemia without thrombocytopenia was confirmed. A the age of 2 years, an audiogram revealed sensorineural hearing loss. Electrocardiography and echocardiography were normal. Diabetes mellitus of non-autoimmune etiology was diagnosed at the age of 4 years old. The patient was started on insulin therapy. On the basis of history, clinical examination and laboratory investigations the diagnostic of TRMA syndrome was made. The patient was started on oral thiamine therapy. Thiamines effect was found to be quite remarkable on the hematological disorders. However there was no improvement in hearing disability and the patient is still on insulin therapy.
Conclusion: In children, TRMA syndrome should be kept in mind especially when diabetes is associated with megaloblastic anemia and/or neurosensorial deficits. Early introduction of high dose thiamine can reverse anemia and allow more glycemic control for diabetes.
18 - 21 May 2019
European Society of Endocrinology