Abstract
INTRODUCTION: Osteopetrosis is a genetic bone disease whose main feature is the function of osteoclasts. This rare disorder affects one in every 250,000 live births. In terms of pathophysiology, osteopetrosis is divided into four types from mild to severe forms of the disease. We report of a case report of malignant osteopetrosis of infancy. CASE PRESENTATION: A 3-month-old infant weighing 5 kg was hospitalized with complaints of fever, anaemia, and thrombocytopenia. He was the fourth child of the family, three other children of the family have died due to osteoporosis. According to the history of the disease in the family and the symptoms, tests and radiographic results, the diagnosis of osteopetrosis has been made for the child. DISCUSSION: It involves an autosomal recessive mode of inheritance and manifests as diffuse osteosclerosis. Benign autosomal dominant osteopetrosis is a common form of the disease that is without symptoms and is diagnosed by random radiography. About half of the cases are characterised by fracture or osteomyelitis of the lower jaw Congenital osteopetrosis is a severe and malignant form of the disease that occurs in infancy. CONCLUSION: Considering the high mortality in osteopetrosis patients and the psychological burden and significant economic concern that comes with it. There is a need for timely diagnosis and treatment as soon as possible.