Radiological features of malignant osteopetrosis at early and late stages of disease

Abstract

Infantile form of osteopetrosis (malignant osteopetrosis) is the most severe form of the disease. Specific radiological signs allow to suspect andconfirm the diagnosis. We analyzed the data of 17 patients with infantile osteopetrosis. In 13 from 17 patients we detected с.807+5 G>A mutation in TCIRG1 gene (most commonly seen in Chuvash and Mari). In all patients X-ray examination was performed with specific osteopetrosis signs in 100 % of cases. Regardless of age increased bone density and early ossification in this group of children were described. Details of radiological picture were significantly differing in different age groups. Most probably «Chuvash» mutation causes a less severe disease than other types of malignant osteopetrosis. Without treatment patients can survive 6–8 years that can detect radiological signs previously described only in adult (benign) osteopetrosis.

Keywords

• osteopetrosis
• mutation
• radiological examination
• children