Background: Osteopetrosis, also called as “Osteosclerosis”, “Marble bone disease” or “Albers-Schonberg disease, is an extremely rare inherited sclerotic bone disorder. The primary defect in osteopetrosis is due to mutation in CLCN-7 gene. Osteopetrosis is marked by increased bone density due to the defect in bone reabsorption by osteoclasts which leads to accumulation of bone with defective architecture, making them brittle and susceptible to fracture.
Case Report: We reported a 36 years old normotensive and non-diabetic female with type 2 adult type of osteopetrosis with subtrochanteric fracture of right femur and highlighted the surgical management with intramedullary interlocking nailing and technical difficulties encountered during the surgery. The classical features of osteopetrosis associated with this case and past history of left trochanteric fracture & its surgical management, iatrogenic fracture associated with surgical implant removal has been enlightened in this article to bring about the awareness among the readers. The patient has been explained about the natural history of disease and counselled for genetic screening to evaluate the mutant alleles. Due to lack of facilities, genetic testing could not be done.
Conclusion: We recommend intramedullary interlocking nailing is the best surgical modality of choice for subtrochanteric fracture of femur in a case of osteopetrosis.