Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome

A 6-year-old girl with osteoporosis-pseudoglioma syndrome had operative treatment of a distal femur fracture that failed. Osteoporosis-pseudoglioma syndrome is an autosomal recessive syndrome combining severe premature osteoporosis with a bilateral eye disorder leading to early onset of blindness. Beginning in early childhood, the patient sustained multiple fractures of the left distal femur that were treated nonoperatively. At the age of 5 years the patient had a fracture of the left distal femur with an 80 degrees angulation in the sagittal plane. The patient was treated with internal stabilization because of gross bowing of the femur at the fracture site. Intraoperatively, anatomic reduction was achieved by insertion of a flexible nail but not without some intraoperative problems. Because of the severe osteoporosis, iatrogenic penetration and fracture of the femoral cortex by the nail occurred intraoperatively in the subtrochanteric region. In addition, a hip spica cast was applied. The nail was removed 1 week later. After 6 weeks wearing the hip spica cast, the patient's fracture healed with some shortening but with correction of the angulation in the sagittal plane. Internal stabilization seems to be potentially troublesome in patients with severe forms of this syndrome and severe bony deformities.