Background: Imerslund syndrome, a recessive autosomal disease, initially described by Imerslund and Grasbeck in 1960, associates megaloblastic anemia and proteinuria.
Case report: We report on six cases, studied in five different families. All patients (mean age: 3.5 years) had clinical symptoms of anemia, three had malabsorption, proteinuria was present in five, at the time of diagnosis. Hemogram and decreased serum vitamin B12 levels were consistent with the diagnosis in all cases. Intra-muscular injections of cyanocobalamine was instituted on a life-time basis and the long term prognosis is good.
Conclusion: The diagnosis should be evoked when the three typical features are present: macrocytic anemia, decreased serum B12 level and proteinuria. It will be confirmed by the bone marrow megaloblastic aspects and the Schilling test findings.