Diagnosis of Metabolic, Endocrine and Congenital Bone Disease

Abstract

Although metabolic bone diseases are common, they may be difficult to diagnose on the basis of clinical and radiological findings. Understanding their diverse manifestations using different imaging studies allows early and specific diagnosis.Inthe early stages of the disease, bone scintigraphy shows generalized increased uptake. As the disease progresses, bone scintigraphy has well-recognized features, such as focal and generalized increased uptake in the long bones, axial skeleton and peri-articular areas. Generalized uptake of the skull, mandible and sternum are other patterns. Finally, focal uptake in the costochondral junctions, soft-tissue calcification and faint, or absent, kidney uptake are additional features. Knowledge of these different scintigraphic patterns helps obtain the highest diagnostic value. Important practical applications of bone scan in metabolic bone disease are the detection of focal conditions or focal complications of such generalized disease such as the detection of fractures in osteoporosis, pseudo-fractures in osteomalacia and the evaluation of Paget’s disease, particularly disease activity.