Osteopetrosis–a case report

Osteopetrosis is a group of rare hereditary skeletal disorder characterized by marked increase in bone density. This results from a defect in bone remodeling caused by failure of normal osteoclast function. It is an extremely rare disorder affecting the bones. Osteopetrosis results because there is an imbalance between the formation of bone and the breakdown of the bone. Several types of osteopetrosis are seen which vary in severity. Symptoms can include fractures, frequent infections, blindness, deafness and strokes. The disease represents with variations in clinical presentation because of the heterogeneity of genetic defects resulting in osteoclast dysfunction. Medical treatment is based on efforts to stimulate host osteoclasts or provide an alternate source of osteoclasts. The aim of this paper is to present a 4 yr old female child's case report with emphasis on its clinical and radiological features.