A rare case of osteopetrosis mimicking osteosarcoma: 18F-FDG PET/CT findings in an unexpected diagnosis

Osteopetrosis, also known as marble bone disease, represents a heterogeneous group of rare, inherited bone dysplasia that share the hallmark of abnormally increased bone density caused by osteoclast dysfunction. The diagnosis greatly relies on appearance of the skeleton features on imaging meth-ods such as radiography (X-ray), the most useful modality, supported by computed tomography (CT), magnetic resonance im-aging (MRI), limited to more severe cases of ARO, and 99mTc-methylene diphosphon-ate (MDP) bone scintigraphy. We report a woman with ADO that oc-curred without the classic imaging features on X-ray, MRI or bone scintigraphy mi-micking an osteosarcoma and that, for this reason, has required the need to perform 18F-FDG PET/CT.