Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis.

Osteopetrosis is a rare, inherited disease characterized by dense and brittle bones, and it is associated with an increased risk of femoral fractures. However, the surgical treatment of the fracture patients with osteopetrosis is a subject of controversy, because it is difficult to compare the treatment effects between surgical treatment and conservative treatment in part due to the rarity of siblings with osteopetrosis. In fact, the genetic background and the environmental factors, such as living conditions and daily work, may influence the prognosis of the fracture patients with osteopetrosis. Here we describe siblings with osteopetrosis, a 23-year-old female patient and her older brother, both of whom had suffered from bilateral femoral fractures at their childhood. They do not have other brothers or sisters, and their parents are healthy. The younger sister had undergone surgical treatment for femoral fractures at the age of 8 years and recovered very well. In contrast, her brother had received the conservative treatment for femoral fractures at the age of 6 years, and thereafter he is badly disabled due to the malunion of the fractured femurs. Apparently, the surgical treatment is superior to the conservative treatment for the fracture patient with osteopetrosis. Unfortunately, fifteen years later, the sister fractured again at both femurs and underwent another operation. She recovered quickly from the second operation, indicating that second operation should be considered in osteopetrosis patients with postoperative fractures. The present report provides valuable information for the choice of treatment of femoral fractures associated with osteopetrosis.