Congenital Pseudoarthrosis of the Femur Managed with Masquelet Technique

Congenital pseudoarthrosis is a rare disorder, and mostly occurs in the radius, ulna, tibia, and fibula, but is not reported in the femur. Congenital cases that were reported in the literature, most were associated with neurofibromatosis, cleidocranial dysostosis, congenital constriction band syndrome and fibrous dysplasia and the acquired cases followed fractures of bones or tuberculosis. Since the life span of the patient is affected rarely, clinical examination of these patients and serial radiographs can give us plenty of information about the limb abnormality, its clinical course, and the nature of the underlying disturbance of growth.

A 3 year female child presents to the outpatient department of a tertiary care hospital with complaints of pain, swelling and deformity thigh region right side for 5 months. On examination, Swelling was present [2x2 cm] at the junction of the mid and distal thigh, smooth surface, ill defined edges, soft and non tender. There was abnormal mobility which was noted at the right thigh at the junction of the middle and distal 1/3 right femurMRI reported circumferential periosteal reaction with cortical surface irregularity of the right femoral shaft was also noted. The findings were reported to be concerning for chronic osteomyelitis with non-united fracture & cortical resorption/chronic bone loss. Histopathological sections showed multiple bits of viable bony trabeculae with surrounding fibro-collagenous tissue displaying significant proliferation of fibroblasts, slit-like blood vessels, arterioles and moderate mixed inflammatory infiltrate of plasma cells, few neutrophils, lymphocytes, histiocytes and few multinucleated histiocytes.She was managed with resection of pseudoarthrosis and masquelet procedure stage 1 and later masquelet stage 2 (cement spacer removal, ipsilateral ileac crest bone grafting with fixation with 7-hole distal fibular anatomical plate and bone graft substitute placement [ChronOs]).

Idiopathic or primary congenital pseudoarthrosis can involve the femur as well as other long bones. It may or may not be associated with hip dysplasia and the outcome may not be as bad as previously reported in the pseudoarthrosis of other long bones.