A long-term follow-up of a case of Rogers syndrome, Thiamine responsive megaloblastic anemia

Thiamine-responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare autosomal recessive disorder characterized by anemia, diabetes mellitus, and progressive sensorineural deafness. The disease can be manifested anytime between infancy adolescence, all the cardinal findings may not present at time of diagnosis. main defect lies in active thiamine uptake into cells which disturbed. Not many cases have been reported about long-term follow-up children with this their associated complications. We hereby report 14 years girl diagnosed toddler age nonresponsive further progressed to hearing loss. Her clinical exome study showed mutation SLC19A2 gene. This experience illustrates relevance detailed evaluation regular assess progression till her pubertal age.