Contribution of hybrid imaging in benign osteopetrosis: A case report and litterature review

Abstract

Introduction : Benign osteopetrosis is a rare metabolic bone disorder characterized by a generalized and symmetrical increase in bone density. While the radiographic features of osteopetrosis are well-known, scintigraphic aspects, particularly in hybrid imaging (single-photon emission computed tomography coupled with computed tomography (SPECT/CT), have been rarely described in the literature.

Observation : A 16-year-old adolescent boy presented with chronic diffuse osteoarticular pain. Radiological exploration revealed osteosclerosis in the femoral heads, distal ends of the femurs, and upper ends of the tibiae, suggesting the diagnosis of osteopetrosis. Planar bone scintigraphy supplemented by SPECT/CT confirmed the diagnosis, mapped the various bone locations, and ruled out fractures.

Conclusion : Although rare, benign osteopetrosis should be recognized because it causes bone integrity impairment, leading to various bone complications, including spontaneous fractures. SPECT/CT plays an important role in assessing the extent of bone lesions and identifying complications.

As highlighted, this case underscores the utility of combining functional and anatomical imaging modalities in one examination, which decreases the time to diagnosis and offers a comprehensive assessment of benign osteopetrosis.