Sequential Events in an Osteopetrosis Patient with Neck of Femur Fracture: A Case Report

Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The condition vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g., classic or malignant autosomal recessive osteopetrosis [ARO]) to the incidental finding of osteopetrosis on radiographs (e.g., osteopoikilosis). Classic ARO is characterized by fractures, short stature, compressive neuropathies, hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas the onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of autosomal dominant osteopetrosis. Diagnosis is largely based on clinical features and radiological examination. Treatment is largely symptomatic. Life expectancy in adult forms is normal. Here, we present a 48-year-old female who presented with pain over the right hip and difficulty in walking for the past 3 months and was diagnosed with a neck of femur fracture. She had a previous history of proximal femur fracture, which was treated with plating instead of nailing because of intramedullary breakage of the reamer. She experienced the following events while treating the neck of the femur fracture. Osteopetrosis with fracture is a difficult situation. Conventional fixation methods may not be possible because of the marble bone quality. Hence, one should be prepared for alternative plans of fixation with the required armamentarium for proper execution. Level of evidence: Level VI.