Diagnostic and treatment challenge in adult presentation of congenital pseudoarthrosis of the tibia: A case report

Abstract

Introduction Congenital pseudoarthrosis of the tibia is a rare congenital disease. Late presentation in adult, makes the diagnostic far more challenging and often misdiagnosed as a common non-union fracture with high re-operation rate. In long courses of repeated surgery, non-union persisted along with severe leg length discrepancy. Case presentation A 19-year-old male presented with history of left tibia fracture with repeated surgery. Current problems were progressed bowing of the left lower leg and length discrepancy without recent injury. There was a sign of neurofibroma and pseudoarthrosis at distal third of the tibia shaft with fibula involvement. A radical resection was performed followed by staged deformity correction with Ilizarov's method which was consisted of bone transport procedure in 4 months and lengthening procedure in another 4 months, without grafts. Discussion After one-year, patient achieved union at docking site, equal lower limb length, good alignment and consolidation in bone transport and lengthening site. Three months after frame removal patient has achieved functional bipedal gait with no sign of recurrence. Conclusion Diagnostic and therapeutic challenge in the late onset of congenital pseudoarthrosis of tibia is in differentiating it with another cause of non-union and in dealing with deformities. Although none of surgical methods have proven their superiority, reconstruction using Ilizarov method is proved to be safe, practical, and effective to solve both problems. However, the patient still needs to be closely observed and protected weight bearing due to the refractory nature of the disease.

Congenital Pseudoarthrosis of the Tibia: A Narrative Review

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“…There are various controversies regarding surgery to treat CPT. Some European multicentre studies on CPT of the tibia prove that surgery should be avoided after age three, preferably deferred until age five, because the results were not favored [ 9 ]. Currently, the age of surgery for CPT remains controversial and is studied by many [ 9 ].…”

“…Some European multicentre studies on CPT of the tibia prove that surgery should be avoided after age three, preferably deferred until age five, because the results were not favored [ 9 ]. Currently, the age of surgery for CPT remains controversial and is studied by many [ 9 ]. Therapeutic challenge and diagnosis of CPT of the tibia in the late-onset differentiate it from other rare bone deformities.…”