Challenges in the Surgical Orthopedic Treatment of Long Bone Fracture in a Rare Case of Pycnodysostosis

Abstract

Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acro-osteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Although the satisfying healing potential, many issues exist in managing fractures in pycnodysostosis patients. In this paper, we report the challenges faced in managing a fracture of the femoral shaft in a 14-year-old boy coming from a low-income family. The patient was administered to the Paediatric Surgical Emergency Department of the Children's Hospital in Rabat for the management of a closed fracture of the left femur. Despite being of small stature with dysmorphic facial features, a prominent forehead, and brachydactyly, he never had a medical consultation before. The patient then underwent a surgical reduction. We attempted titanium elastic nail fixation, but metaphyseal drilling was not feasible due to the high bone density, and the narrow medullary canal eliminated this option. Therefore we opted for the palate fixation. Sclerotic bone made drilling extremely difficult. The postoperative fracture was successfully healed.