Osteopetrosis masquerading as anemia: A case report

Osteopetrosis, also called as marble bone disease or the Albers Schonberg disease; is an extremely rare inherited disorder. The basic pathology is the defective resorption of bone by the osteoclasts. This results in an increased bone mass along with a decreased hematopoietic tissue, leading to normocytic normochromic anaemia. We recently encountered a case in a 4 month infant presenting with delayed milestones, pallor and mild hepatosplenomegaly. On hematological examination, the smear showed a leukoerythroblastic picture. The bone marrow biopsy and radiological features were instrumental in the diagnosis of this rare disease. This case highlights osteopetrosis as a rare cause of anemia.