Camurati–Engelmann disease: Radiologic and genetic diagnosis in a pediatric case

Camurati–Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone dysplasia caused by mutations in the transforming growth factor beta 1 ( TGFβ1 ) gene. We present a case of an 8-year-old boy with bilateral lower limb pain and a waddling gait. Radiographs and computed tomography revealed characteristic diaphyseal thickening of long bones with medullary canal narrowing. Radiologic evaluation played a pivotal role in diagnosis, subsequently confirmed by genetic testing. This report highlights imaging features that differentiate CED from other sclerosing bone dysplasias.