A rare cause of anemia and hepatosplenomegaly-marble bone disease

Abstract Marble bone disease (“osteopetrosis”) is a rare, heritable disorder of the skeleton due to a defective function of the osteoclasts and characterized by increased bone density on radiographs. It is an uncommon disease with an unknown etiology. The presentation and severity of osteopetrotic conditions vary greatly, from neonatal onset with potentially fatal complications such as bone marrow failure (e.g., classic or “malignant” or autosomal recessive osteopetrosis) to the incidental discovery of osteopetrosis on radiographs (e.g., osteopoikilosis), susceptibility to infections, growth failure, and generalized osteosclerosis. If left untreated most of the cases of infantile form osteopetrosis die as a result of bone marrow suppression in the first decade of life. Normocytic anemia is caused either by hypoproliferation of hemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anemia. We are presenting here an unusual case that was diagnosed clinically and radiologically as malignant infantile osteopetrosis and was referred to us for the evaluation of anemia and hepatosplenomegaly.