Nagehan Katipoğlu1, Tuba H Karapinar2, Korean Demir3, Sultan Aydin Köker4, Özlem Nalbantoğlu3, Yılmaz Ay2, Hüseyin A Korkmaz3, Yeşim Oymak2, Melek Yıldız3, Selma Tunç3, Filiz Hazan5, Canan Vergin2, Behzat Ozkan3. 1. Department of Pediatrics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. 2. Department of Pediatric Hematology and Oncology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. 3. Department of Pediatric Endocrinology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. 4. Department of Pediatric Hematology and Oncology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. drsultanaydin@hotmail.com. 5. Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Abstract
BACKGROUND: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day. CONCLUSION: Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given.
BACKGROUND:Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day. CONCLUSION:Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given.