Pycnodysostosis in a patient with multiple fractures

Abstract

Objective: To report the case of pycnodysostosis in a patient with multiple fractures due to very low energy trauma. Case details: A 35-year-old male patient with pycnodysostosis was admitted complaining of pain and swelling in his right thigh after falling from his own height down the last step of a staircase. X-rays revealed a transverse fracture of the proximal femur. Fixation was performed with an anterograde intramedullary nail. After 2 years and 4 months, the patient returned to the clinic reporting a fracture of the right forearm as a result of a fall from his own height, and had been using crutches since the femoral fracture. Radius diaphyseal fixation was performed with a dynamic compression plate. One month later, the patient was seen again with refracture of the right radius as a result of a fall from his own height while using crutches, and a new fixation with a dynamic compression plate was performed. Final considerations: The timing, nature and duration of fracture healing in individuals with pycnodysostosis is often considered normal compared to those without the disease. However, the case reported here presents an extremely rare condition in which the patient suffered multiple very low-energy fractures in a short period of time.