Quantitative bone mineral density assessment in malignant infantile osteopetrosis.

PURPOSE: To investigate the use of quantitative computed tomography (QCT) and dual energy absorptiometry (DXA) for assessing bone mineral density (BMD) in the evaluation of children with malignant infantile osteopetrosis (MIOP). METHODS AND PATIENTS: We retrospectively reviewed QCT- and DXA-determined BMD in six patients with infantile osteopetrosis and correlated BMD measured during the initial evaluation with patient characteristics. RESULTS: Five male and one female infant met the eligibility criteria. BMD was markedly elevated in all patients as determined by each modality, QCT or DXA. For QCT, in which age-specific normal values are known, the BMD was found to be 22.4-32.6 standard deviations above the mean. Using DXA, the estimated BMD of the lumbar spine ranged from 0.45 to 0.8 g/cm(2); children with similarly appearing bone radiographs had quite disparate BMD. While the qualitative trend of BMD among the patients was similar for both measures, the units and numerical values of BMD differed. We found no correlation between BMD results and hematopoiesis observed in the bone marrow or with visual evaluation of the radiographs. CONCLUSION: Both QCT and DXA are effective quantitative measures of BMD in children with MIOP. However, the same modality should be employed for longitudinal evaluation of a given patient. Each technique has unique advantages and disadvantages and may complement one another in the evaluation of MIOP or other bone disorders. Quantitative assessment of BMD in children with MIOP will likely serve to further characterize this disease.