Osteopetrosis: some unusual radiological features with a short review

The radiological features of 27 cases of osteopetrosis were analysed retrospectively. The common features of generalized sclerosis of bones; with metaphyses showing characteristic widening, multiple transverse striations, cortical thickening and medullary calcifications as well as fractures, are seen in most cases. In addition to these changes, a number of rare features of osteopetrosis are seen, viz: medial and symmetrical metaphyseal cortical defects in the long bones (5 cases), excessive diaphyseal radiodense periosteal new bone formation (5 cases), bone-in-bone appearances (5 cases), and the presence of intracerebral and meningeal calcifications in 7 cases. The significance of these intracranial calcifications as a component of a particular autosomal recessive syndrome in which renal tubular acidosis and carbonic anhydrase II deficiency may co-exist, is discussed.