Osteopetrosis presenting as Leukoerythroblastosis in 4 month old patient: A case report

Abstract

Osteopetrosis, is also known as marble bone disease or the Albers Schonberg disease. It is an extremely rare inherited disease. The disease results due to defective resorption of bone by the osteoclasts. This causes bone mass to increase accompanied by decreased hematopoietic tissue, causing extramedullary hematopoiesis. The clinical and radiological assessment plays an important role in diagnosis of infantile osteopetrosis. Clinical symptoms range from asymptomatic adults to life threatening condition in infants. We report a 4-month-old female patient with infantile osteopetrosis presenting with leukoerythroblastic blood picture and hepatosplenomegaly. This case highlights the importance of hematological findings, radiographic and genetic analysis for diagnosis of osteopetrosis.