[Marble bone disease: The role of SPECT/CT hybrid imaging].

INTRODUCTION: Osteopetrosis is an autosomal metabolic bone disease characterized by a decrease in bone resorption. It can be dominant or recessive. The patient often has increased bone fragility with fractures, which are usually the first sign of disease. Symptoms are variable, ranging from mild hematological disorders to severe neurological complications that can be life threatening. This work reports on the contribution of single-photon emission computed tomography (SPECT)/CT in the diagnosis and management of osteoarticular complications of marble bone disease, based on a clinical case.

CASE REPORT: A 2-year-old child, born after a consanguineous marriage, was hospitalized because of mucocutaneous pallor, splenomegaly, failure to thrive, and altered psychomotor development. Radiographic examination showed signs of osteopetrosis. SPECT/CT revealed a double fracture of the right coracoid process and the 10th right rib.

DISCUSSION, CONCLUSION: Fractures are a common complication of osteopetrosis. They are spontaneous or associated with minor trauma. SPECT/CT is important in the evaluation of the extension of bone lesions, and it confirms the diagnosis of osteomyelitis or fracture when radiological images are atypical or clinical expression is unusual.