Congenital Pseudarthrosis of the Tibia

Synonyms

CPT, congenital tibial dysplasia, congenital dysplasia of the tibia, anterolateral bowing with congenital dysplasia/dysplasia of the tibia, tibial pseudoarthrosis (congenital),

Overview

Congenital Pseudarthrosis of the Tibia (CPT) is a rare condition characterized by a non-union of the tibia bone, often developing in the first two years of life, sometimes even at birth. It’s a type of fracture that doesn’t heal properly, leading to instability and potential deformity of the lower leg. This condition is frequently associated with Neurofibromatosis Type 1 and can significantly impact a child’s mobility and development.

CPT is thought to result from abnormal bone formation, specifically involving the periosteum (the membrane surrounding the bone), which prevents proper healing. This leads to a “false joint” (pseudarthrosis) at the site of the non-union, causing instability and susceptibility to further fractures. 

Symptoms

The condition can manifest as bowing of the tibia, a noticeable limp, and pain or discomfort. The severity can vary greatly, with some individuals experiencing only minor bowing while others have significant instability and deformity

Diagnosis

Diagnosis is typically made through clinical examination and imaging studies like X-rays and MRI. 

Prognosis

The outcome of CPT can vary. While some individuals achieve successful bone union and a good functional outcome, others may experience persistent complications like refractures, limb length discrepancies, and difficulty with walking

Treatment

Surgical interventions may include bone grafting, internal fixation (using plates or rods), and external fixation. Amputation may be considered in severe cases where other treatments have failed.