AI Article Synopsis
- Imaging is essential for diagnosing and managing osteopetrosis in children, helping to quickly confirm severe cases and identify milder cases where symptoms may not be obvious.
- The findings from imaging scans can reveal major complications associated with the disease, such as fractures and issues affecting the nervous system.
- The review discusses the underlying causes of imaging results related to osteopetrosis and explores specific imaging findings, related conditions, and possible alternative diagnoses.
Article Abstract
Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease. Imaging can also identify major complications, including fractures and neurological compromise. We review the pathophysiological basis for the imaging findings in osteopetrosis, focusing on the impact of loss of various osteoclast functions leading to elevated bone density, hyperostosis, modelling abnormalities and bone fragility. We give an overview of the specific imaging findings, both skeletal and neuroradiological, in the spectrum of osteopetrotic disorders, including in the related entities of pyknodysostosis and dysosteosclerosis. We also explore potential radiological differential diagnoses.
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| http://dx.doi.org/10.1016/j.bone.2022.116560 | DOI Listing |
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