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
Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B...Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B12 absorption. The prevalence of this type of anemia is highly variable worldwide and megaloblastic anemia caused by lack of vitamin B12 (cyanocobalamin) is rare during pregnancy [1]. In this case report, we report follow-ups conducted for a pregnant 33-year-old woman, G2, P1, with a history of previous natural childbirth who attended Kamali Hospital due to labor pain associated with severe thrombocytopenia. Although this woman was injected 10 units of PLT and also vitamin B12 (cyanocobalamin), folic acid and corticosteroids in the course of treatment, her platelet level has not yet returned to normal levels after 6 months and she is still being treated.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.
文摘Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B12 absorption. The prevalence of this type of anemia is highly variable worldwide and megaloblastic anemia caused by lack of vitamin B12 (cyanocobalamin) is rare during pregnancy [1]. In this case report, we report follow-ups conducted for a pregnant 33-year-old woman, G2, P1, with a history of previous natural childbirth who attended Kamali Hospital due to labor pain associated with severe thrombocytopenia. Although this woman was injected 10 units of PLT and also vitamin B12 (cyanocobalamin), folic acid and corticosteroids in the course of treatment, her platelet level has not yet returned to normal levels after 6 months and she is still being treated.
