Straightening the Bow: Acute Bilateral Femoral Deformity Correction in an Adolescent with X-Linked Hypophosphatemic Rickets – A Case Report with 3 Years Follow-up

Abstract

Introduction: X-Linked Hypophosphatemic Rickets (XLHR) occurs due to mutations in PHEX gene leading to a disordered production of FGF23 and hypophosphatemia. This disease is characterized by bowing of lower extremities. Phosphate supplements and oral vitamin medications, partially or, in some cases, fully restore the straightness of the limbs. Surgery is considered a vital alternative for severe or residual limb deformities in adolescent population. Case Report: A 19 year old male presented to us with complaints of bilateral bowing of lower extremities, diagnosed to be X-Linked Hypophosphatemic Rickets .He underwent correction of deformity in both femurs, spaced 5 months apart, with intramedullary nailing, based on the principle of CORA. Follow-up period of 3 years showed a good functional outcome from the patient with no complications acquired so far. Patient gained a height of 5 cms. Discussion: The treatment for XLHR, principally, starts with rectifying hypophosphatemia and, is achieved by vitamin D and phosphate supplementation prior to surgery. A variety of techniques are used in the treatment, of which acute correction and fixation with intramedullary nail, is considered to be superior to osteotomy or Ilizarov or plate fixation, as both rotation and angulation deformities can be corrected. Conclusion: Surgery becomes the best choice of management at this stage. Deformities of the diaphysis are triumphantly treated with multiple osteotomies over an intramedullary rod at any age, preferably after puberty to prevent recurrence. It allows patients to approach their normal activities. A good result was achieved by using multiple osteotomies by CORA and intramedullary nailing.