Autosomal recessive osteopetrosis: bone marrow imaging

Abstract

Technetium-99m sulfur colloid scintigraphy was performed prospectively in 12 infants and children with autosomal recessive osteopetrosis, to correlate the appearance of bone marrow stores with advancing age. Baseline images were obtained in all patients, and one to five follow-up images were obtained in eight patients after they began therapy with calcitriol, interferon-gamma, or both. Conventional radiography was performed along with the nuclear studies in all cases. Magnetic resonance (MR) images of the head or lower extremities were also obtained in six patients and were correlated with the scintigraphic findings. Patterns of abnormal distribution of bone marrow appeared to be age-dependent. In patients younger than 1 year, marrow stores were primarily in the skull base and at the ends of the long bones. In patients aged 3-5 years, marrow stores shifted to the diaphyseal regions of long bones and to the calvarium. In the appendicular skeleton, areas of greatest bone marrow activity corresponded to regions of relative decreased opacity on radiographs and areas of intermediate or high signal intensity on T2-weighted MR images. The skull base showed appreciable marrow activity in spite of densely sclerotic bone on radiographs.