Particularities in the surgical management of a pathological femoral fracture related to type I Gaucher disease

Gaucher disease (GD) is a rare condition commonly associated with skeletal symptoms. At the advanced stage, it can lead to aseptic bone necrosis (AVN) and pathological fractures. The medical treatment by enzymatic replacement therapy (ERT) has considerably improved a patient's quality of life, but without being able to avoid bone-related complications. The handling of these patients in terms of orthopedic surgery is quite specific, and very few publications discussed the surgical management of this disorder in the literature. We are reporting a rare case of a 50-year-old female who presented with a pathologic fracture on a deformed femur with an Ehrlenmeyer flake aspect. She underwent surgical treatment by percutaneous nailing using an MRI-compatible Titanium implant. Through this paper, we are trying to briefly define GD, summarize his bone-related manifestations, and outline the appropriate measures and precautions that should be considered by orthopedic surgeons when dealing with skeletal complications of this rare disease.