Purpose or Case Report: Osteopetrosis is a rare disorder characterized by osteosclerosis throughout the axial and appendicular skeleton. Abnormally functioning osteoclasts lead to deficient osseous remodeling and overly dense, brittle bones with crowding of the bone marrow space. Multiple different genetic abnormalities underlie this condition, resulting in varying penetrance and heterogeneous disease patterns. Imaging is critical to diagnosis and characterization. The aim of this exhibit is to familiarize the pediatric radiologist with this rare disease through a discussion of the clinical presentation, characteristic imaging findings (with special attention paid to the differences among infantile, adolescent, and adult forms), complications, and available forms of management. We will emphasize the central role of imaging in diagnosis, as well as detection of complications and monitoring changes after treatment.
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