thiamine– responsive megaloblastic anemia syndrome

thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinical feature of wolfram,s syndrome with increased plasma levels of blood glucose, both of which dramatically responded to administration of thiamine in large doses . the patient also had neurosensorial deafness, but no improvement was observed in the deafness. we presented the case because thiamine-responsive megaloblastic anemia is a rare clinical presentation of wolfram syndrome and after institution of treatment with thiamine, the anemia and hyperglycemia returned to normal.