Alberg's Schoenberg Disease – A Review and Case report

Abstract

Osteopetrosis is a rare hereditary bone disease characterized by a abnormal overgrowth of dense bone because of osteoclasts malfunction, impaired bone resorption, decrease in the rate of bone turnover and formation of immature bone. There are a number of clinical variants with significantly different prognosis and clinical behaviours that have been described in the literature. The diagnosis of Osteopetrosis is largely based on the clinical and radiographic evaluation, and confirmed by gene testing. Treatment for osteopetrosis is largely symptomatic, however haematopoietic stem cell transplantation is currently the best chance for the long term survival of the patient. Osteomyelitis is a known complication of osteopetrosis. A prompt diagnosis, appropriate treatment and a continuous follow up decreases the long-term sequelae of the disease. This article emphasis on the signs and symptoms, clinical and radiographic features of Osteopetrosis and gives an insight on a case diagnosed with Osteopetrosis in an eight year old female patient and about the treatment rendered.