Osteopetrosis in young women presented with a fragility fracture and very high bone density

Abstract

Osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclast dysfunction, leading to osteosclerosis on radiological findings. Osteopetrosis is broadly divided into autosomal recessive and autosomal dominant forms; the former is more severe with high mortality, while the latter is more common and often presents with fragility fractures in late childhood or adulthood. We report a case of a 29-year-old Burmese woman with right leg pain who was unable to walk or bear weight after minor trauma. She had no history of previous fractures, dental problems, or chronic bone pain. She denied any chronic medical conditions or visual or hearing problems and was not on any medications. Examination showed tenderness of the left thigh with a limited range of motion; otherwise, the findings were unremarkable. Laboratory findings revealed normal serum calcium, phosphate, and parathyroid hormone levels, except for a low vitamin D level. A BMD scan showed high bone density. Genetic testing for skeletal disorders revealed heterogeneous CLCN7 mutations consistent with osteopetrosis. This case highlights the importance of considering osteopetrosis in patients with fragility fractures and high bone density. Early diagnosis and management can help prevent recurrent fractures and improve quality of life.