Fig. 2: Burden of XLH disease in an adult patient.

Radiographic images in a 48-year-old man with X-linked hypophosphataemia (XLH)-associated rickets that manifested with short stature, bowing of the limbs and recurrent abscesses during childhood. Phosphate supplements and active vitamin D metabolites were administered until the age of 18 years. The patient had important varus deformities of the tibias and underwent corrective surgical procedures: the first operation was a bilateral tibial osteotomy at age 20 years and a second operation was performed on the right side at age 22 years. The osteotomy site on the right fibula did not consolidate until the age of 25. a | At the age of 43 years, in the context of diffuse pain, X-ray evaluation showed multiple pseudofractures located on the left femur, and right and left tibias, with important deformations. b | Conventional treatment was started, which was associated with rapid improvement in the pain and progressive healing of the pseudofractures. c | At the age of 48 years, he developed symptomatic spinal cord compression at the level of thoracic vertebra 7 and thoracic vertebra 8 due to enthesopathy affecting the ligamentum flavum. He underwent a posterior decompression at the levels of compression sites (arrows indicate compression).