Aims. Congenital pseudarthrosis of the tibia (CPT) has traditionally been a difficult condition to treat, with high complication rates, including nonunion, refractures, malalignment, and leg length discrepancy. Surgical approaches to treatment of CPT include intramedullary rodding, external fixation, combined intramedullary rodding and external fixation, vascularized fibular graft, and most recently cross-union. The current study aims to compare the outcomes and complication rates of cross-union versus other surgical approaches as an index surgery for the management of CPT. Our hypothesis was that a good index surgery for CPT achieves union and minimizes complications such as refractures and limb length discrepancy. Methods. A multicentre study was conducted involving two institutions in Singapore and China. All patients with CPT who were surgically managed between January 2009 and December 2021 were included. The patients were divided based on their index surgery. Group 1 included patients who underwent excision of hamartoma, cross-union of the tibia and fibula, autogenic iliac bone grafting, and internal fixation for their index surgery. Group 2 included patients who underwent all other surgical procedures for their index surgery, including excision of hamartoma, intramedullary rodding, and/or external fixation, without cross-union of the tibia and fibula. Comparisons of the rates of union, refracture, limb length discrepancy, reoperations, and other complications were performed between the two groups. Results. A total of 36 patients were included in the study. Group 1 comprised 13 patients, while Group 2 comprised 23 patients. The mean age at index surgery was four years (1 to 13). The mean duration of follow-up was 4.85 years (1.75 to 14). All patients in Group 1 achieved bony union at a mean of three months (1.5 to 4), but ten of 23 patients in Group 2 had nonunion of the pseudarthrosis (p = 0.006). None of the patients in Group 1 had a refracture, while seven of 13 patients who achieved bony union in Group 2 suffered a refracture (p = 0.005). None of the patients in Group 1 had a limb length discrepancy of more than 2 cm, while ten of 23 patients in Group 2 have a limb length discrepancy of more than 2 cm (p = 0.006). In Group 1, four of 13 patients had a complication, while 16 of 23 patients in Group 2 had a complication (p = 0.004). Excluding removal of implants, four of 13 patients in Group 1 had to undergo additional surgery, while 18 of 23 patients in Group 2 had to undergo additional surgery following the index surgery (p = 0.011). Conclusion. A good index surgery of excision of hamartoma, cross-union of the tibia and fibula, autogenic iliac bone grafting, and internal fixation for CPT achieves union and minimizes complications such as refractures, limb length discrepancy, and need for additional surgeries

Congenital pseudarthrosis of the tibia (CPT) is a rare but well recognised condition. Obtaining union of the pseudarthrosis in these children is often difficult and may require several surgical procedures. The treatment has changed significantly since the review by Hardinge in 1972, but controversies continue as to the best form of surgical treatment. This paper reviews these controversies.

Cite this article: Bone Joint J 2013;95-B:1027–34.

Congenital pseudarthrosis of the tibia is an uncommon manifestation of neurofibromatosis type 1 (NF1), but one that remains difficult to treat due to anabolic deficiency and catabolic excess. Bone grafting and more recently recombinant human bone morphogenetic proteins (rhBMPs) have been identified as pro-anabolic stimuli with the potential to improve the outcome after surgery. As an additional pharmaceutical intervention, we describe the combined use of rhBMP-2 and the bisphosphonate zoledronic acid in a mouse model of NF1-deficient fracture repair.

Fractures were generated in the distal tibiae of neurofibromatosis type 1-deficient (Nf1^+/−) mice and control mice. Fractures were open and featured periosteal stripping. All mice received 10 μg rhBMP-2 delivered in a carboxymethylcellulose carrier around the fracture as an anabolic stimulus. Bisphosphonate-treated mice also received five doses of 0.02 mg/kg zoledronic acid given by intraperitoneal injection.

When only rhBMP but no zoledronic acid was used to promote repair, 75% of fractures in Nf1^+/− mice remained ununited at three weeks compared with 7% of controls (p < 0.001). Systemic post-operative administration of zoledronic acid halved the rate of ununited fractures to 37.5% (p < 0.07).

These data support the concept that preventing bone loss in combination with anabolic stimulation may improve the outcome following surgical treatment for children with congenital pseudarthoris of the tibia and NF1.

The use of recombinant human bone morphogenetic protein-2 (rhBMP-2) for the treatment of congenital pseudarthrosis of the tibia has been investigated in only one previous study, with promising results. The aim of this study was to determine whether rhBMP-2 might improve the outcome of this disorder. We reviewed the medical records of five patients with a mean age of 7.4 years (2.3 to 21) with congenital pseudarthrosis of the tibia who had been treated with rhBMP-2 and intramedullary rodding. Ilizarov external fixation was also used in four of these patients. Radiological union of the pseudarthrosis was evident in all of them at a mean of 3.5 months (3.2 to 4) post-operatively. The Ilizarov device was removed after a mean of 4.2 months (3.0 to 5.3). These results indicate that treatment of congenital pseudarthrosis of the tibia using rhBMP-2 in combination with intramedullary stabilisation and Ilizarov external fixation may improve the initial rate of union and reduce the time to union.

Further studies with more patients and longer follow-up are necessary to determine whether this surgial procedure may significantly enhance the outcome of congenital pseudarthrosis of the tibia, considering the refracture rate (two of five patients) in this small case series.