Infantile malignant osteopetrosis with interesting bone marrow biopsy findings

Osteopetrosis also known as Albers-Schonberg disease or marble bone disease is a rare genetic metabolic bone disorder characterized by a marked increase in bone density caused by a defect in bone remodeling due to failure of normal osteoclast function. It is classified into three forms: Infantile malignant autosomal recessive osteopetrosis, intermediate osteopetrosis and autosomal dominant (AD) osteopetrosis. Malignant infantile osteopetrosis is a rare severe fatal disorder with an average incidence of 1:200,000-1:300,000 [1]. The diagnosis is confirmed by radiology. Bone marrow aspiration in such cases is difficult and usually leads to dry tap. Trephine biopsy is essential in these cases to obtain bone marrow picture. Here we are reporting a case of infantile malignant osteopetrosis in a 6 months old female.