Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carr...Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.展开更多
文摘Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.
