Free fibula flap to achieve bone union after congenital pseudoarthrosis of the forearm in neurofibromatosis: Technical report based on 3 cases, and literature review.

Congenital pseudarthrosis of the forearm bones (CPFBs) is rare, with only 106 reported cases, and is frequently associated with neurofibromatosis (NF). Approximately 5% of patients with NF develop pseudarthrosis, and 50% of patients with pseudarthrosis have NF. Achieving bone union is difficult in congenital pseudarthrosis. Many methods have been attempted, including casting, internal fixation with or without grafting, and electrical stimulation, but failure is frequent. Free vascularized fibular flaps (FVFs) have been used to bridge long bone defects since 1975 and in tibial pseudarthrosis since 1979. In CPFB, FVF is more successful than other methods in achieving union and is the current treatment of choice. Here, we presented three cases of forearm pseudarthrosis treated with FVF, reviewed the literature on CPFB, and discussed some technical aspects of FVF treatment. Three cases of congenital pseudoarthrosis were treated with free fibula flaps, diagnosed at ages of 7 years (ulna), 15 months (radius), and 9 years (radius and ulna). Two flaps were stabilized with intramedullary wires and latterly, one with compression plates. One persistent nonunion received revision nonvascularized bone grafting and plating. All patients achieved union by 11 months after index surgery. Reconstruction with vascularized fibula is the treatment of choice because it offers the highest published union rates and good functional results. Complete resection of the affected bone and stable fixation, latterly with compression plates are critical to success. Surgery is technically demanding, and complications are common. Secondary surgery may be required, but outcomes are favorable. LEVEL OF EVIDENCE: IV.

Free Fibula Flap for Congenital Pseudarthrosis of the Tibia: Indications and Challenges.

Background: Congenital pseudoarthrosis of the tibia (CPT) is a rare pathological disease associated with neurofibromatosis type 1 (NF1). It presents with tibial bowing and can progress into a nonhealing fracture. Treatment options include conservative approaches such as serial bracing or various surgical options.Surgically, the aims are to achieve long-term bone union, prevent limb length discrepancies (LLDs), and avoid mechanical axis deviation, soft tissue lesions, nearby joint stiffness, and pathological fracture.The purpose of our study is to highlight our experience with both the conservative approach and the use of vascularized free fibula reconstruction of these deformities, including the challenges encountered with a long-term follow-up until skeletal maturity. Methods: We present a retrospective analysis of a total of nine (9) patients consisting of three (3) girls and six (6) boys. Six (6) children were treated with a vascularized fibula flap, and the other three (3) were treated conservatively. Outcomes measured included fractures, LLD, ankle valgus deformity, donor site morbidity, and number of surgical corrections. Results: All patients had flap survival. Three (3) of six children had a previous failed surgery with intramedullary nail and bone graft prior to performing a vascularized free fibula reconstruction. The follow-up period ranged from 8 months to 200 months. The complications included stress fractures (50%), LLD (66.6%), and ankle valgus (33.3%). During growth phases, these children required multiple corrective surgeries. Conclusions: Fibula free flap is a good treatment option for CPT even in patients with prior surgical failures with variable results.Level of Evidence - Level 4 - Case series Therapeutic Studies-Investigating the Results of Treatment.

Vascularized Growth Plate Transfer in Paediatric Ulna Non-Union: Operative Technique and Review of the Literature.

Congenital pseudarthrosis of forearm fractures is rare and is strongly associated with neurofibromatosis type 1 (NF1). Our case report illustrates the progression of a non-union of the ulna after minor trauma in a twelve-year-old boy, newly diagnosed with NF1, and presents the technique of microsurgical bone reconstruction, including the growth plate. More than seven years after the first operation, follow-up presents a favorable outcome with a pain-free patient and unrestricted function of the forearm after a secondary correction of the remaining radial bowing. This treatment is discussed with a comprehensive review of the current literature on ulnar congenital pseudarthrosis in PubMed and Google Scholar and free fibular growth plate transfer in PubMed and Google Scholar. Nine publications reporting on 20 cases of congenital ulnar non-unions were identified. With this reconstructive option, favorable outcomes were achieved in all cases with the union after primary surgery and complications requiring further surgeries in nine cases. The benefit of vascularized growth plate bone transfer in congenital ulna non-union seems to be significant compared to other therapies such as open reduction internal fixation (ORIF), non-vascularized bone grafts, or one-bone-forearms and beneficial when growth reconstruction is needed. Other techniques might be necessary to improve insufficient long-term results.

Management of congenital pseudoarthrosis using Ilizarov Device-Delsuth, oghara experience.

Background: Congenital pseudoarthrosis of the tibia (CPT) is a rare and very difficult pediatric orthopedic condition to manage. It occurs spontaneously or from a trivial trauma. It results from a dysplastic periosteum that is more osteoclastic and less osteoblastic in nature. Successful treatment targets excision of the dysplastic periosteum and replacement with viable one and bone graft ± bone morphogenic proteins to aid union. Stabilization of the union site with intramedullary implants is advised to prevent refracture. Aims: To highlight the outcome of treatment of CPT with the Ilizarov procedure, bone graft, and use of bisphosphonate (sodium alendronate). Patients and Methods: This is a retrospective study of five patients treated for CPT using the Ilizarov procedure, bone graft, and use of bisphosphonate in the Delta State University Teaching Hospital, Oghara in Delta State, Nigeria. Inclusion criteria were patients that had a fracture of the tibia ± fibula spontaneously or from minor trauma. Exclusion criteria were patients that had pathological fractures or fractures from significant trauma. The outcome was graded into good, fair and poor. Results: Five patients were seen in this study. The male/female ratio was 2:3. The age was 6-18 years (mean = 11.5 years). The limb length discrepancy was 6-12 cm (mean = 7.2 cm) pre-operation and zero after completion of distraction. There was the loss of some regeneration in two patients at the end of consolidation. Two patients had hypertrophic CPT, while three patients had atrophic. Union was good in four and fair in one. Complications seen were ankle stiffness bending of the regenerate and loss of length of regenerate. Conclusion: CPT is a rare condition worldwide that is associated with non-union and complicated by post-operation refracture or non-union has been successfully treated with a procedure that entails use of Ilizarov technique, bone graft bisphosphonate and support with intramedullary nails.

Umbilical cord mesenchymal stem cells combined with secretome for treating congenital pseudarthrosis of the Tibia: a case series.

INTRODUCTION: Most patients with congenital pseudoarthrosis of tibia (CPT) do not have promising outcomes despite multiple attempts using conventional surgeries. The combination of umbilical cord-derived mesenchymal stem cells and conditioned medium (secretome) contains major components pivotal for the enhancement of fracture healing. The purpose of this study was to address fracture healing in CPT cases that were treated using the combined implantation of umbilical-cord mesenchymal stem cells (UC-MSCs) and secretome. MATERIALS AND METHODS: From 2016 to 2017, six patients with CPT who were treated by one senior pediatric orthopedic consultant at a single center (3 girls and 3 boys; mean age of 5.8 years) were included in this case series. A combined procedure including resection of hamartomatous fibrotic tissue, implantation of MSCs and secretome, and fixation using a locking plate and screws was performed. Patients were followed up for a mean of 29 months. Leg-length discrepancy, refracture rate, functional outcome, and radiological outcomes were assessed preoperatively, immediately postoperatively and at the final follow-up. RESULT: Five out of 6 (83%) of the patients experienced primary union. One patient experienced refracture; however, 8 months later, after another implantation and reconstruction were performed, union eventually occurred. Significant functional improvement was achieved after at least 1 year of follow-up. CONCLUSION: This case series suggests that the combination of secretome and UC-MSCs is a potential treatment for CPT, it highlights the efficacy of the combined procedure in treating CPT and in achieving satisfying results. A larger number of subjects and longer follow-up are required for further study.

Treatment of Refractory Congenital Pseudoarthrosis of Tibia with Contralateral Vascularized Fibular Bone Graft and Anatomic Distal Tibial Locking Plate: A Case Series and Literature Review.

BACKGROUND: Congenital pseudoarthrosis of the tibia (CPT) remains a challenge for physicians. Several treatment options have been proposed, but the standard of care remains inconclusive. In this study, we present three patients for whom the failure of prior treatments was managed with a contralateral vascularized fibular bone graft (VFG) and an anatomic distal tibial locking plate. METHODS: Between 2017 and 2021, three patients were referred for failed treatment of CPT. All patients had undergone multiple prior surgeries, including tumor excision and fixation with ring external fixators, plates, and screws. We performed radical tumor resection and reconstruction of bone defects with a VFG. The construct was fixed with an anatomic locking plate, and the patients were followed up for a mean of 45.7 months. RESULTS: All three patients were able to obtain graft union at 19.3 weeks. At the final follow-up, all grafts achieved bony hypertrophy without evidence of bone resorption or local tumor recurrence. There was a mean leg length difference of 8.5 cm preoperatively, compared with 6.3 cm postoperatively. The average lower leg angulation was 7.4 degrees and the average ankle range of motion was 58.3 degrees. The mean VAS score was 0 and the mean AOFAS score was 88.3. No significant complications were noted. CONCLUSIONS: Implantation of a VFG and an anatomic distal tibia locking plate can be considered an option for treatment-refractory CPT. Patients can expect to achieve bone consolidation, ambulate as tolerated, and have a low complication rate.

Anterolateral Tibial Bowing and Congenital Pseudoarthrosis of the Tibia: Current Concept Review and Future Directions.

PURPOSE OF REVIEW: Congenital pseudarthrosis of the tibia (CPT) is a rare condition closely associated with neurofibromatosis type I. Affected children are born with anterolateral bowing of the tibia which progresses to pathologic fracture, pseudarthrosis, and high risk of refracture even after initial union has been attained. There is currently no consensus on the classification of this disease or consensus on its treatment. The purpose of this review is to (1) review the clinical presentation, etiology, epidemiology, classification, and natural history of congenital pseudarthrosis of the tibia and (2) review the existing trends in treatment of congenital pseudarthrosis of the tibia and its associated complications. RECENT FINDINGS: Current treatment protocols focus primarily on combining intramedullary fixation with external or internal fixation to achieve union rates between 74 and 100%. Intramedullary devices should be retained as long as possible to prevent refracture. Cross-union techniques, though technically difficult, have a reported union rate of 100% and no refractures at mid- to long-term follow-up. Vascularized fibular grafting and induced membrane technique can be successful, but at the cost of numerous surgical procedures. Growth modulation is a promising new approach to preventing fracture altogether, though further study with larger patient series is necessary. The primary consideration in treatment of CPT is expected union rate and refracture risk. Combined intramedullary and external or internal fixation, especially with cross-union techniques, show most promise. Perhaps most exciting is further research on preventing fracture through guided growth, which may reduce the morbidity of multiple surgical procedures which have been the mainstay of treatment for CPT thus far.

Combination of the Ilizarov Method and Intramedullary Fixation for the Treatment of Congenital Pseudarthrosis of the Tibia in Children: A Retrospective Observational Study.

Purpose: Congenital pseudoarthrosis of the tibia (CPT) is a rare disease in children, and its treatment remains a challenge for orthopedic surgeons. The purpose of this study was to evaluate treatment outcomes of patients with CPT treated by using the Ilizarov method combined with intramedullary fixation. Method: Eighteen patients evaluated retrospectively from January 2009 to January 2020 were treated using the Ilizarov method combined with intramedullary fixation. Demographic data, clinical characteristics, and complications were all recorded and investigated during the period of follow-up. Ankle function was evaluated by the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot scores at the last follow-up. Result: The average follow-up was 39.2 months (25-85 months) for all 18 patients. The mean age was 6.2 years (3.5-11.2 years). Fourteen (77.8%) patients had a primary bone union at the site of pseudarthrosis, while four obtained union after secondary surgical intervention. The mean duration of the Ilizarov method was 8.1 months (4.2-13.5 months). Eight (44.4%) patients had a pin-tract infection during treatment. Four (22.2%) patients had proximal tibial valgus with a mean angle of 12.1° (5-25°), while seven (38.9%) patients had ankle valgus deformities with a mean of 10.3° (5-20°). Eleven (61.1%) patients had an average 1.4 cm of limb length discrepancy (LLD) (0.6-3.1 cm) postoperatively. Five (27.8%) patients had refracture and recovered after a secondary surgery. At the last follow-up, the average postoperative AOFAS score was 72 (55-84). Conclusion: The Ilizarov method combined with intramedullary fixation is an effective method for the treatment of CPT, which can facilitate bony union and help to prevent refracture. Management of fibular pseudarthrosis is associated with functional outcomes. It is necessary to follow up until skeletal maturity and evaluate long-term clinical outcomes.

Congenital Pseudoarthrosis of the Tibia: A Narrative Review.

Congenital pseudoarthrosis of the tibia, also known as CPT, is a rare bone disease mostly occurring in the pediatric age group of 10. The case generally represents anterolateral bowing of the tibia with refractures. This condition is quite rare and has very few cases per year. CPT is still a challenging concern in orthopedics. Bone reunion often requires repeated surgical measurements. With advancements, we have new treatment plans that include induced membrane techniques and bone marrow stromal cell grafts of various induced and morphogenetic protein, which still requires confirmation. Different treatment strategies based on surgical, mechanical, and biological concepts have been shown with varying success rates. Ilizarov technique and vascularised fibular grafts have vastly increased the effectiveness in treating CPT of the tibia. Constant and recurrent refracture, residual deformities, and difficulty obtaining bone union remain the challenges in managing CPT. Hence, phasing CPT as bowing the tibia in an anterolateral fashion is more appropriate because it's a heterogeneous entity with varying prognoses.

Surgical Management of Congenital Pseudoarthrosis of the Clavicle: A Review of Current Concepts.

Nowadays, surgical intervention is an accepted treatment for congenital pseudoarthrosis of the clavicle (CPC). The purpose of this literature review is to evaluate the current body of evidence for methods and outcomes of surgical intervention for CPC. CPC is a rare deformity of the middle third of the clavicle not often identified until three to five years of age, at which time surgery is often recommended. The most common indication for surgery is cosmetic appearance, but other indications include pain, shoulder dysfunction, and prevention of complications later in life. Surgical intervention involves the resection and excision of the pseudoarthrosis, bone grafting (most commonly autologous tissue from the iliac crest), and internal fixation using plates or Kirschner wires (K-wires). Plate fixation tends to have fewer complications and better long-term outcomes. Following surgery, outcomes include satisfaction with cosmetic appearance, decreased pain, and improved shoulder function.

Congenital pseudarthrosis of the forearm as a single manifestation of neurofibromatosis type 1 at birth: A case report.

Congenital pseudoarthrosis of the forearm is an extremely rare condition. It is most commonly associated with neurofibromatosis type I (NF1). Patients with NF1-associated pseudoarthrosis have complex medical management and often require surgical intervention due to higher failure rates of union. In this case report, we present a unique case of a newborn baby with congenital pseudoarthrosis of both the radius and ulna that was manifested at birth and shortly thereafter, was diagnosed with NF type 1.

Congenital pseudoarthrosis of the radius in Neurofibromatosis Type 1: An entity not to be missed!

Congenital pseudoarthrosis of the radius is exceedingly rare. We report an isolated pseudoarthrosis of the radius in a five-year-old girl child with Neurofibromatosis type-I (NF-I). She underwent excision of the pseudoarthrosis tissue, ulna osteotomy, iliac crest cortico-cancellous bone grafting, and K wire fixation of both bones. A sound union of the radius and the ulna was achieved after 4 months. At two-year follow-up, mild shortening of the forearm persisted with maintenance of sound union of both bones. Accurate diagnosis of the condition is central in avoiding complications and the need for complex surgical procedures.

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

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.

Management of Congenital Pseudoarthrosis of the Tibia and Fibula.

PURPOSE OF REVIEW: Congenital pseudoarthrosis of the tibia and fibula are rare conditions that share common treatment strategies. The purpose of this review is to provide an overview of the recent developments in treatments for both conditions. RECENT FINDINGS: Recent literature has focused on the use of BMP and on gait analysis as a tool for measuring long-term functional outcomes. Recent study has indicated rhBMP-2 may shorten the time to initial healing of pseudoarthroses, but not guarantee bony union. Children with initial fractures before the age of four have been shown to have long-term gait outcomes that may be ultimately comparable to children with prostheses. Both congenital pseudoarthrosis of the tibia and fibula are challenging conditions to treat, which require comprehensive approaches to account for both the biological and mechanical components of the conditions.

Congenital Pseudoarthrosis of the Distal Radius Treated With Physeal-Sparing Double-Barrel Vascularized Free Fibula Transfer: A Case Report.

BACKGROUND: Neurofibromatosis type 1 is a hereditary disease that can lead to pseudoarthrosis of various long bones. Rarely, pseudoarthrosis affects the forearm, and to the best of our knowledge, this is the first reported case of pseudarthrosis of the distal radius treated by this unique method. METHODS: We present a case of a 7-year-old male who underwent multiple operations to treat pseudoarthrosis of the distal radius. RESULTS: After failed conservative and operative fixation augmented with autologous iliac crest bone grafting, the patient underwent a successful double-barrel vascularized free fibula graft while preserving the physis of the distal radius. CONCLUSION: Double-barrel vascularized free fibula bone graft can be successfully used as the definitive treatment in refractory cases of distal forearm pseudarthrosis and we believe that our technique can be applied to all cases of pseudarthrosis in other patients with a similar presentation and lesion location.

Outcome Results of Ilizarov Osteosynthesis for Congenital Pseudarthrosis of the Tibia : An Interim Report / 대한정형외과학회잡지

PURPOSE: This study evaluated the efficacy of the Ilizarov technique for the treatment of patients with congenital pseudoarthrosis of the tibia (CPT). MATERIAL AND METHODS: Twenty-two patients with CPT, who underwent osteosynthesis using the Ilizarov technique and were followed-up for more than 3 years, were enrolled in this study. The clinical and radiological data were reviewed to evaluate the outcomes of the Ilizarov technique. RESULTS: The initial osteosynthesis was carried out successfully with the Ilizarov method at average age of 4.6 years. Twenty refractures occurred in 12 patients, who were also treated successfully using the Ilizarov method. Tibial lengthening (27 cases), medial tibial hemiepiphysiodesis (23 cases), distal tibiofibular synostosis (17 cases) were combined with a total of 42 Ilizarov osteosyntheses. After an average 8.1 years follow-up, the mean limb length discrepancy was 1.6 cm, and average anterior apex and valgus angulation of the tibial shaft were 6.3degrees and 7.3degrees, respectively. The mean ankle alignment was valgus 1.9, and the mean range of motion of the ankle joint was 21degrees dorsiflexion and 33degrees plantar flexion. CONCLUSION: The Ilizarov technique combined with tibial lengthening, distal tibiofibular synostosis and/or medial tibial hemiepiphysiodesis is an effective procedure that can achieve bony union as well as a functional limb.

Molecular Characterization of Congenital Pseudoarthrosis of the Tibia Associated with Neurofibromatosis / 대한정형외과학회잡지

PURPOSE: Congenital pseudarthrosis of the tibia, which is recalcitrant to treatments and prone to recur, is frequently associated with neurofibromatosis. The causative gene for neurofibromatosis, NF1, has been identified, but the pathomechanism of congenital pseudarthrosis has not been elucidated. The purposes of this study were to establish primary cell culture from the fibrous hamartoma tissue of pseudoarthrosis, and to compare the gene expression patterns of the fibrous hamartoma and normal bone. MATERIALS AND METHODS: Incubation of the enzymatically treated fibrous hamartoma tissue resulted in growth of the adherent fibroblast-like spindle cells. Expression of hundreds of genes including bone morphogenetic protein-2 and -4, and NF1 were screened by reverse transcription-polymerase chain reaction and cDNA array hydridization methods. RESULTS: Bone morphogenetic protein-2 and -4, and, NF1 were found to express in normal bone, normal periosteum as well as fibrous hamartoma and adjacent hypotrophic bone. Twenty-four genes were found to express exclusively in the fibrous hamartoma, and fifty genes only in the normal bone. CONCLUSION: These findings suggest that the causative gene of neurofibromatosis, NF1, may be associated with pathogenesis of the congenital pseudoarthrosis of the tibia in neurofibromatosis patients.