ADULT ONSET OSTEOPETROSIS (ALBERS SCHONBERG DISEASE) - A CASE REPORT

Osteopetrosis is a rare genetic disease that occurs due to defective bone modelling, with an approximate incidence of 1 in 100,000 to 1 in 500,000 adults as quoted in literature. The underlying pathology is an impaired function of osteoclasts and their role in bone resorption. A 24 year old male presented with severe chronic anaemia, pancytopenia and hepatosplenomegaly with history of receiving recurrent blood transfusions. Laboratory investigations revealed normocytic hypochromic anaemia. The bone marrow examination showed a hypocellular picture with fibrosis. Radiologic examination showed presence of sclerosis of the base of the skull, generalised sclerosis of the pelvis and thickened lower ends of femur and tibia. It was diagnosed as adult onset benign form of autosomal dominant osteopetrosis. We report this case in view of its rare incidence.