Abstract
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder including megaloblastic anemia, thrombocytopaenia, diabetes mellitus and progressive sensorineural deafness. We report cases of two infants, aged respectively four and five months, hospitalized for diabetic-acido-ketosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine-levels. Neurosensorial investigations showed bilateral deafness and ophthalmic involvements. Treatment with oral thiamine normalized hematological parameters and ameliorated diabetes.
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