Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn (original) (raw)

Pycnodysostosis is a rare skeletal dysplasia caused by a lysosomal storage disorder, which is, in turn, caused by a mutation in the cathepsin K enzyme gene. This study reports the case of a 16-year-old patient suffering from pycnodysostosis with dental/maxillofacial (ho trovato anche "dento-skeletal"), spine and appendicular skeleton dysmorphism. In order to correct the bilateral femoral deformities, we performed osteotomies and synthesis with intramedullary nails. We treated the right femur first; the patient later developed the following complications post-operatively: severe anaemia and a systemic Staphylococcus Hominis infection. The left femur was then subsequently treated with a revision of the intramedullary nail-priorly implanted for a diaphyseal fracture in the patient's country of origin-a corrective osteotomy and the positioning of a new nail. Post-operatively, the patient suffered a per-subtrochanteric compound fracture of the left femur. At the last radiographic follow-up 14 months post-operatively on the right femur and 5 months post-operatively on the left femur, there was complete consolidation of the osteotomy and satisfactory correction of the deformity with restoration of a correct loading axis of the right side and initial consolidation of the osteotomy and per-subtrochanteric fracture of the left side. The patient walks autonomously without pain and his quality of life has significantly improved.