99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked skeletal disorder affecting the spine and long bones, leading to short stature, spinal deformities, and joint stiffness. It is caused by genetic mutations, and primarily affects males. Diagnosis is confirmed by imaging and genetic testing. We report the case of a 33 years old patient with a history of X-linked SEDT, who presented with pain in the lower limbs and pelvis, accompanied by limited mobility. Bone scan with 99mTc-methylene diphosphonate (MDP) revealed a polyostotic SEDT involvement, periarticular ossifications, and bony bridges in the active phase. The authors highlight the role of bone scan with 99mTc-MDP in diagnosing this rare disease.