Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management

These cases underscore TRMA as a high-impact, reversible cause of early-onset diabetes - but only when recognized promptly. Thiamine can induce complete metabolic remission and insulin independence, offering a therapeutic opportunity unmatched in most pediatric diabetes etiologies. However, once neurological damage develops, metabolic correction alone is insufficient. TRMA should be urgently considered in any child with recurrent macro/megaloblastic anemia and atypical or antibody-negative diabetes, especially with hearing concerns. Early genetic testing and immediate thiamine therapy are essential to prevent avoidable, lifelong morbidity. In children with unexplained megaloblastic anemia and atypical diabetes, immediate TRMA screening may prevent irreversible complications.