52 Presentation and challenges in the diagnosis of thiamine responsive megaloblastic anemia (TRMA) in a resource-poor setting: a case series of monogenic diabetes, megaloblastic anemia, and deafness in pakistani infants and children

Background TRMA (thiamine-responsive megaloblastic anemia) or Rogers syndrome is a rare autosomal recessive disorder characterized by the triad of diabetes mellitus, megaloblastic anemia, and sensorineural deafness. We report three TRMA/Rogers Syndrome cases from Pakistan, highlighting the clinical features and management challenges in a resource-poor setting. Case Report(s) Case 1 A 3-year-old female presented with visual problems, and was subsequently diagnosed with diabetes and megaloblastic anemia. Genetic testing revealed a homozygous missense mutation in SLC19A2, confirming the TRMA/Rogers Syndrome diagnosis. The patient was managed with thiamine supplementation, insulin therapy, and regular follow-up. Case 2 A 12-year-old female presented with sensorineural deafness, and was later diagnosed with diabetes and megaloblastic anemia. Genetic testing revealed a homozygous nonsense mutation in SLC19A2, confirming the TRMA/Rogers Syndrome diagnosis. The patient was managed with thiamine supplementation, insulin therapy, and hearing aids. Case 3 A 2.5-year-old male presented with sensorineural deafness, and was subsequently diagnosed with diabetes and megaloblastic anemia. Genetic testing revealed a homozygous frameshift mutation in SLC19A2, confirming the TRMA/Rogers Syndrome diagnosis. The patient was managed with thiamine supplementation, insulin therapy, and regular audiology evaluations. Conclusion(s) In conclusion, TRMA/Rogers Syndrome is a rare disorder with significant clinical and genetic heterogeneity. The diagnosis requires a high index of suspicion and genetic testing. The challenges of managing TRMA/Rogers Syndrome in a resource-poor setting highlight the need for improved genetic testing and healthcare infrastructure in developing countries.