A rare association of Pyle disease with ventricular septal defect

Abstract

Pyle’s disease is a rare autosomal recessive disorder manifested by metaphyseal dysplasia. It is characterized by defect in metaphyseal remodeling that leads to grossly widened metaphyses of long bones with marked cortical thinning and osteoporosis, especially in the distal end of femur and proximal tibia. The other features include genu valgum, broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly, and cortical thinning. We report this rare disorder in a 5-year-old boy associated with ventricular septal defect which has never been reported in the literature. It may be an incidental finding or some association with this rare disorder.