A case report of Pyle's disease with a pathological fracture of distal femur treated with retrograde intramedullary nailing

Abstract

Pyles disease also called metaphyseal dysplasia, is a rare genetic disorder of skeleton(Gadegone and Lokhande, 2015) .8 Here there is a case of 42 year old female with this pyles disease and was diagnosed with distal femur fracture. Her xrays showed tubular flask like appearance which is also called Erlen meyer flask deformity, with broadening and thickening of ends of bone and cortical thinning is alos present. There is transverse fracture of distal 1/3rd shaft of left femur(Gadegone and Lokhande, 2015) .8 Skeletal survey was done and revealed mild sclerosis of skull and also bilaterally we can see broadening and thickening of femorotibial metaphyses, proximal humerus, distal radius and ulna as well as proximal phalanges and distal metacarpal bones. This fracture is successfully treated by a Retrograde intramedullary nailing. At 6 months, fracture united well and the functional outcome is excellent.

Keywords

• Pyle's disease
• Metaphyseal dysplasia
• Erlenmeyer flask sign
• Fracture femur
• Retrograde intramedullary nailing