Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

• DOI: 10.5546/aap.2017.eng.e153
• Publication Date: 2017-04-25T20:52:51Z
• Authors: Karapinar, Tuba H.; Katipoglu, Nagehan; Oymak, Yesim; Ay, Yilmaz; Vergin, Canan; Hazan, Filiz; Tunc, Selma; Yildiz, Melek; Koker, Sultan Aydin; Ozkan, Behzat; DEMİR, KORCAN; Korkmaz, Huseyin A.; Nalbantoglu, Ozlem
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Anemia, Megaloblastic; Hearing Loss, Sensorineural; Mutation; Diabetes Mellitus; Humans; Infant; Membrane Transport Proteins; Thiamine Deficiency; Female

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.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.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.