The Imerslund-Gräsbeck syndrome is a rare inherited disorder characterized by a megaloblastic anemia due to a selective vitamine B₁₂ malabsorption in association with a mild proteinuria.

A twenty-two month-old-boy who had diarrhea since the last year, is admitted to our hospital with vomiting and fever. Proteinuria, megaloblastic anemia, steatorrhea and malnutrition were detected. The diagnosis of Imerslund-Gräsbeck disease was performed on the basis of association of typical megaloblastic cells in the bone marrow and favourable outcome with parenteral vitamine B₁₂ administration. In addition, our patient had no folat deficiency, no anti-intrinsic factor antibodies and no intrinsic factor deficiency.