Journal of pediatric endocrinology & metabolism : JPEM · 2026
Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management.
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Yılmaz Uğur Cem, Bhriguvanshi Arpita, Özalp Kızılay Deniz, Özen Samim, Darcan Şükran, Doğan Yusuf Can, Işık Esra, Karadaş Nihal, Wood Jamie R, Libman Ingrid, Gökşen Damla
Аннотация
OBJECTIVES: Thiamine-responsive megaloblastic anemia (TRMA) is a rare but clinically impactful disorder caused by pathogenic SLC19A2 variants. Despite its characteristic triad - megaloblastic anemia, non-autoimmune early-onset diabetes, and sensorineural hearing loss - TRMA is frequently unrecognized at initial presentation, delaying life-altering treatment. This report highlights how early thiamine therapy can rapidly reverse dysglycemia and hematologic abnormalities, and how diagnostic delay may permit irreversible neurological injury.
CASE PRESENTATION: Case 1, a six-month-old male, presented with diabetic ketoacidosis and profound anemia. High-dose thiamine produced a striking metabolic response: near-immediate glycemic stabilization, complete insulin discontinuation within days, and normalization of hematologic parameters. Despite optimal early treatment, progressive hearing loss necessitated cochlear implantation. Case 2, a three-year-old male, exhibited recurrent anemia, difficult-to-control diabetes despite insulin therapy, and established sensorineural hearing impairment, following a stroke at age two. Thiamine initiation after delayed genetic confirmation improved dysglycemia and corrected anemia, yet neurological sequelae remained fixed.
CONCLUSIONS: 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.
CASE PRESENTATION: Case 1, a six-month-old male, presented with diabetic ketoacidosis and profound anemia. High-dose thiamine produced a striking metabolic response: near-immediate glycemic stabilization, complete insulin discontinuation within days, and normalization of hematologic parameters. Despite optimal early treatment, progressive hearing loss necessitated cochlear implantation. Case 2, a three-year-old male, exhibited recurrent anemia, difficult-to-control diabetes despite insulin therapy, and established sensorineural hearing impairment, following a stroke at age two. Thiamine initiation after delayed genetic confirmation improved dysglycemia and corrected anemia, yet neurological sequelae remained fixed.
CONCLUSIONS: 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.