title: Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
abstract: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders.
authors.affiliation: Service de médecine infantile A, hôpital d'Enfants de Tunis, Jebari, 1007 Bab Saadoun, Tunisia. olfa.bouyahia@rns.tn
authors.forename: O
authors.initials: O
authors.lastname: Bouyahia
authors.forename: M
authors.initials: M
authors.lastname: Ouderni
authors.forename: F
authors.initials: F
authors.lastname: Ben Mansour
authors.forename: N
authors.initials: N
authors.lastname: Matoussi
authors.forename: F
authors.initials: F
authors.lastname: Khaldi
mesh_terms: D000749:Anemia, Megaloblastic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D001772:Blood Cell Count; D001854:Bone Marrow Cells / Q000473:pathology; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics; D016883:Diabetic Ketoacidosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007328:Insulin / Q000627:therapeutic use; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D013831:Thiamine / Q000097:blood / Q000627:therapeutic use*; D013921:Thrombocytopenia / Q000175:diagnosis
chemical_list: D007328:Insulin; D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D013831:Thiamine