ESPE Abstracts

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the classical characteristics, less common presentations include optic atrophy, congenital heart defects, short stature and stroke.

Case Report: We present the case of a 5-year-old child with known case of IDDM since 1-year of age presented to us at the age of 14 months with complain of polyuria, fever and vomiting. His HBA1c turned out to be 10.64 confirming his diabetes. On doing further examination, we learned that the patient has diminished hearing and vision. Antibody workup was negative and thyroid profile showed hypothyroidism. For diminished hearing and vision we send the patient for BERA and retinal examination which showed bilateral sensorineural hearing loss and maculopathy respectively. Keeping TRMA in view we looked at the patient’s complete blood count which revealed megaloblastic anemia. Furthermore, we sent patient’s genetic profile showing homozygous mutation in SLC19A2 gene confirming Thiamine responsive megaloblastic anemia (TRMA).

Conclusion: Thiamine responsive megaloblastic anemia (TRMA) is a rare condition which is confirmed by genetic mutation in our patient. The pediatricians should be vigilant with patients having diabetes to look for other features leading towards disease. Timely diagnosis along with genetic confirmation will help in treating the patient early as exogenous thiamine have a good response in these patients. Genetic counseling should also be done so that the families get aware of this disease and it’s inheritance patterns.