Tibial pseudarthrosis occurs in association with neurofibromatosis in. Successful treatment of congenital pseudarthrosis of the. Ten children underwent 21 secondary operations for various indications. In a few cases, this condition has a benign course of nondysplastic anterolateral bowing. A pseudarthrosis is defined as a false joint and is a break in the bone that fails to heal on its own. The vast majority of patients with congenital pseudarthrosis of the tibia cpt present with a dysplastic tibia with an anterolateral bow at birth 1, 2. In a retrospective comparative study, 75 patients were treated with the ilizarov technique for aseptic posttraumatic pseudarthrosis of the tibia in the period 20002016. Use of an intramedullary rod for treatment of congenital. The cause of congenital pseudarthrosis of the tibia is unclear. Apr 01, 20 boyd hb 1982 pathology and natural history of congenital pseudarthrosis of the tibia. The osseous dysplasia leads to a tibial nonunion and, because of tibial bowing and reduced growth in the distal tibial epiphysis.
The etiology is unknown, with neurofibromatosis playing a role in approximately 50% of patients. Spontaneous fracture or fracture after minor trauma. The problems of managing congenital pseudarthrosis of the tibia include difficulty in obtaining union, refractures, limblength inequality, and deformities of the ankle and leg. Pdf congenital pseudarthrosis of the tibia cpt is likely to be a primary periosteal disease and secondary bone disease. Examination revealed a varus deformity of the left leg, which was 5 cm shorter than the right. There are reports that children with small crosssectional areas in the sections of the pseudarthrosis are more prone to refracture. Congenital pseudarthrosis of the tibia cpt is a childhood disease causing serious morbidity during its natural course. Congenital pseudarthrosis of the tibia cpt is one of the most challenging. Long bone pseudarthrosis is strongly linked to neurofibromatosis, a common genetic disorder in which pseudarthrosis tends to occur early. Congenital pseudarthrosis of the tibia is a complex and rare condition of infancy. The differential diagnosis of congenital pseudarthrosis of.
Congenital pseudarthrosis of the tibia in pediatric patients. Pseudarthrosis is a common postoperative complication that may occur after anterior or posterior procedures, and can be challenging to diagnose and manage 8,10,12,53. The reported incidence of congenital pseudarthrosis of the tibia cpt varies between 1. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. The effect of combined surgery in management of congenital. Org volume 86a number 6 june 2004 use of an intramedullary rod for treatment of congenital pseudarthrosis of the tibia ported in 199216. Although pseudarthrosis has been described in association with neurofibromatosis, the mechanism by which it arises has not been explained. Definition pseudarthrosis is a false joint associated with abnormal movements at the site 3. A coincidence with neurofibromatosis type i is a wellknown fact, first described in 1937. This type of bone nonunion the medical term for improper healing of a broken bone is usually associated with neurofibromatosis, a genetic disorder characterized by tumors neurofibromas that grow in the nervous system and under the skin. The typical presentation is anterior lateral bowing leading to fracture and nonunion or pseudarthrosis. This incorrect bone healing is referred to by orthopedists as nonunion. Congenital pseudarthrosis of the tibia in pediatric. Identification and characterization of nf1 and nonnf1.
Repair of congenital pseudarthrosis of the tibia with the williams rod perry l. Ilizarov treatment of congenital pseudarthrosis of the tibia. Jan 08, 2017 definition pseudarthrosis is a false joint associated with abnormal movements at the site 3. In 50% of cases, there is a link with neurofibromatosis recklinghausensyndrom recognizable by the formation of cafe au lait spots on the skin. Congenital tibia pseudarthrosis pseudarthrose pseudarthrosis. Dec 28, 2015 johnston clinical evaluation criterion of congenital pseudarthrosis of tibia cpt. Association of ilizarovs technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia. At final followup, all 11 patients had a soundly united tibia, although persistent fibular pseudarthrosis was present in 10 patients. Clinical data were classified and analyzed based on nf1 gene variations. It is a rare condition associated sometimes with neurofibromatosis and is prone to pathological fracture and recurrence with shortening.
Congenital pseudarthrosis of the tibia treated with. Pseudoarthrosis differential dr naim qaqish and dr mohammad taghi niknejad et al. A detailed history was taken and there was no suspicion of physical abuse. Congenital pseudoarthrosis of the tibia free download as powerpoint presentation. It can also occur as the result of a growth abnormality, usually during the first 18 months of life. Recurrance of fracture is common porrest prognosis. Exact cellular mechanism is not known and despite a definite clinical relationship with neurofibromatosis, a cellular cause and effect has not been proven. Congenital angulation of the lower leg and congenital pseudarthrosis of the tibia in denmark. A study of infuse bone graft bmp2 in the treatment of. Current treatment of congenital pseudarthrosis of the tibia. Neurofibromatosis was reported in 40% to 80% of patients suffering from congenital pseudarthrosis of the tibia 4, 7. Mr imaging of congenital pseudarthrosis allows assessment of the type and extension of the disease.
Went to see gp and xray was order and it shows that her right fibula is already fractured. Fibular pseudarthrosis with late development of pseudarthrosis of the tibia overlaps with boyd and andersons classification for congenital pseudarthrosis of the tibia type v in which there is an. History, etiology, classification, and epidemiologic data article pdf available in journal of pediatric orthopaedics b 91. Congenital pseudarthrosis of tibia in babies, living in australia in. Congenital pseudarthrosis of the tibia cpt is challenging because of the weak healing power of the dysplastic segment 4, 5, 7, 30, 31, the tendency to refracture until skeletal maturity 4, 5, 7, 30, 31, and the dif. Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The pseudarthrosis is usually not present at birth and therefore is not truly congenital but occurs during the first decade of life. Grill f, bollini g, dungl p et al treatment approaches for congenital pseudarthrosis of tibia.
She was put into a cast for 9 months, then was put into a brace. Treatment of cpt requires solving more than one issue in the affected extremity. Congenital pseudarthrosis of the tibia cpt is a rare pathology, which is. This report describes a similar emergency department presentation in a 4monthold infant with subsequent diagnosis of neurofibromatosis type 1. Congenital pseudarthrosis of the tibia cpt is one of the most challenging orthopedic diseases.
Tibial pseudarthrosis occurs in association with neurofibromatosis in 55% of patients, although only 6% of patients with neurofibromatosis have a pseudarthrosis. Most pseudarthrosis results from improper healing after traumatic injury or fusion surgery. In a previous investigation 2002 at our institution assessing the clinical and radiographic outcomes of variations of this method, procedures that involved resection and grafting. She had the brace for 6 months before she refractured her tibia. This study evaluates the results of the treatment of congenital pseudarthrosis of the tibia.
Congenital pseudarthrosis of the tibia cpt is an uncommon disease with various clinical presentations ranging from simple anterolateral tibial angulation to complete nonunion with extensive bone defects. It occurs in both adults and children, and the paucity of descriptions for all types of the condition in the majority of textbooks bespeaks its comparative rarity. Pseudarthrosis, or pseudoarthrosis, implies the formation of a false joint, usually following a fracture, with no attempt at repair. A retrospective study of surgical treatment of congenital. Treat the congenital pseudarthrosis of the tibia with ilizar. Surgical treatment outcomes of the ilizarov and internal. Congenital pseudarthrosis of the tibia is a rare pediatric disorder that often presents with anterolateral bowing of the tibia. Tibial pseudarthrosis is the name given to a fracture of the tibia the larger of the two bones in the lower leg that does not heal correctly. Congenital pseudarthrosis of the tibia paley orthopedic. There are also six different types of true congenital pseudarthrosis which exhibit similar differences in behaviour and.
Congenital pseudarthrosis of the tibia cpt refers to nonunion of a tibial fracture. This is known as congenital pseudarthrosis, and it can happen in any bone but most commonly occurs in the tibia, the smaller of the two bones of the. Congenital pseudarthrosis of the tibia cpt is one of the most challenging problems in pediatric orthopedics. Neurofibromatosis network hi my 4 and half month old has multiple cal spots. The purpose of the current study was to both evaluate the longterm results of this technique and provide an update of our surgical and postconsolidation strategy when uti. Congenital pseudarthrosis of tibia linkedin slideshare. There are at least four dysplastic lesions of the congentially bowed tibia with or without cysts which are still being confused in the literature, but which have quite different behaviour patterns. Congenital pseudarthrosis of the tibia cpt refers to nonunion of a tibial fracture that develops spontaneously or after a minor trauma. Anteroposterior xrays revealed distal tibia and fibula fractures figure 1 with associated. Leglength discrepancy can be managed by proximal tibial lengthening using distrac. Jul 22, 2016 repair of congenital pseudarthrosis of the tibia with the williams rod perry l.
There are no large population studies evaluating treatment outcomes in aseptic pseudarthrosis of the tibia and comparing the ilizarov method with internal osteosynthesis. The diagnosis is generally made when there is no healing. Refracture is the most serious complication in congenital pseudarthrosis of the tibia cpt. This study compared surgical treatment outcomes of the ilizarov and internal osteosynthesis methods in posttraumatic pseudarthrosis of the tibia. Tis may also account for why younger children refracture more easily, while older children have a lower incidence of refracture. At the site of insufficient bone healing, white fibrous tissue substitutes the bone.
Combined surgery with 3in1 osteosynthesis in congenital. A 4yearold girl with neurofibromatosis type 1 nf1 was admitted to the emergency department, with a leftsided limp and pain. Age between 2 years and 18 years of age at time of study entry. Despite the fact that each of the aforementioned goals is difficult to be achieved regardless the surgical option, the main. The tibia shows area of segmental dysplasia resulting in anterolateral bowing of the bone.
We found out when she fractured her tibia when she was a little over one year old. Paley type iii congenital pseudarthrosis of the tibia in a 7. The etiology of cpt, particularly nonnf1 cpt, is not well understood. Congenital pseudarthrosis of the tibia request pdf. Treatment of congenital pseudoarthrosis of the tibia using the ilizarov technique j. The key to the solution of this problem lies in the differential diagnosis. In such patients, the entire tibia is abnormal even outside of the established pseudarthrosis site. Femoral overgrowth in children with congenital pseudarthrosis. The rod procedures varied according to whether both the tibia and the fibula were resected and both bones type a or just the tibia type b were fixed with an im rod or whether only the tibia was resected and the fibula received no surgery type c. Increasing the crosssectional area in healed segments may reduce the incidence of refracture. Here we screened germline variants of 75 cpt cases, including 55 nf1 and 20 nonnf1. Once the patient is diagnosed, surgical revision of symptomatic pseudarthrosis is recommended.
The anterolateral bowing of the leg is known to be usually idiopathic or due to congenital pseudarthrosis of the tibia cpt. The vascularized fibular periosteal flap has been recently described and showed solid angio and osteogenic features. The etiology is unknown in the majority of the cases, but neurofibromatosis is present. The treatment of cpt remains challenging and the longterm.
Sep 18, 2019 congenital pseudarthrosis of the tibia cpt is a rare disease. Te results of treatment of congenital pseudarthrosis of the tibia cpt are frequenlty complicated by failure to acheive union, refracture, deformity, leg length. Congenital pseudoarthrosis of the tibia ankle surgery. Leg length discrepancy can be managed by proximal tibial lengthening using distrac. Congenital tibia pseudarthrosis congenital tibiapseudarthrosis is a very rare illness of the shinbone tibia which can occur in conjunction with the fibula the bone behind the shinbone. Cpt is a rare disease, but the prevalenve is higher in norway.
The prevalence of cpt is approximately 1 in 140,000 births 4, 5. Congenital pseudoarthrosis tibia is one of the most challenging subject as far as treatment is concerned. Long bone dysplasia is seen in approximately 5% of nf1 individuals and classically involves the tibia and fibula, although involvement of other long bones has been reported. The osseous dysplasia leads to a tibial nonunion and, because of tibial. I postulated that the large cross sectional area of union made it almost impossible to break the tibia. Pseudarthrosis and neurofibromatosis jama surgery jama. The purpose of this study was to describe the characteristics of congenital pseudarthrosis of the tibia on mr images of infants and children and to assess the value of mr imaging in evaluating this disease. Management of congenital pseudoarthrosis of the tibia and. If a patient presents anterolateral bowing, with radiographic tibial abnormalities demonstrating risk of cpt, but prior to any true fracture, both non. Presently, preventing complications is a challenge. We compared them with the 51 patients from the control group, treated for. Classifications of radiographic findings include atrophic or hypertrophic pseudarthosis as well as cystic or dystrophic lesions.
Patients with congenital pseudarthrosis of the tibia do not have a normal tibia. The primary treatment goals are outlined as osteosynthesis, stabilization of the ankle mortise by fibular stabilization and lowerlimblength equalization. Management of congenital pseudoarthrosis of the tibia and fibula. Treatment of congenital pseudarthrosis of the tibia with. The natural history of the disease is extremely unfavorable and once a fracture occurs, there is a little or no tendency for the lesion to heal spontaneously. In all the treatments the basic biological considerations are the same that is pseudoarthrosis resection and bone grafting of the defect by stable fixation and correction of angular deformity without leg length discrepancy.
Pseudarthrosis of the tibia can be stabilized with the use of external fixators, bone plates, or intramedullary nails 2, 17,18,19,20. Congenital pseudoarthrosis tibia linkedin slideshare. Rich definition congenital pseudarthrosis of the tibia follows pathologic fracture of a tibia. Congenital pseudarthrosis of the tibia cpt is difficult to treat in pediatric patients. Congenital pseudarthrosis of the tibia cpt is a rare pathology, which is usually associated with neurofibromatosis type i. A thickened cuff of periosteum and interruption of the bone compacta are noted. Outcome grading ranged from unequivocal union with bracefree function grade 1 to a. Repair of congenital pseudarthrosis of the tibia with the. The congenital pseudarthrosis of the tibia cpt is one of the most challenging problems in pediatric orthopedics. Congenital pseudoarthrosis in a child with neurofibromatosis. Periosteal grafting for congenital pseudarthrosis of the tibia. A pseudoarthrosis or pseudarthrosis false joint presents an abnormal union between parts of the bone that fractured spontaneously due to congenital weakness. Sep 12, 2016 association of ilizarovs technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia. This type of bone nonunion the medical term for improper healing of a broken bone is usually associated with neurofibromatosis, a genetic disorder characterized by tumors.
Free vascularized fibular graft for tibial pseudarthrosis in neurofibromatosis. Nonunion is permanent failure of healing following a broken bone unless intervention such as surgery is performed. Tibial pseudarthrosis occurs in association with neurofibromatosis in 55% of patients, although only 6% of patients with neurofibromatosis have a. Congenital pseudarthrosis of the tibia is characterized by anterolateral deformity of the tibia and shortening of the limb. The cause of cpt congenital pseudarthrosis of the tibia is currently unknown. Some patients present neurofibromatosis type 1 nf1, while some others do not manifest nf1 nonnf1. It occurs in both adults and children, and the paucity of descriptions for all types of the condition in the majority of textbooks bespeaks its. Congenital pseudoarthrosis of the tibia radiology reference. As the problems may develop at different stages of growth, these children must be followed till skeletal maturity. Pdf congenital pseudarthrosis of the tibia is a rare disease with a variable. Revision surgeries have high rates of fusion, with recurrent pseudarthrosis rates from 0% to 14%. Congenital pseudarthrosis of the tibia sciencedirect.
Patients must have tibial pseudarthrosis that has the potential to cause significant morbidity. Tibial pseudarthrosis is a fracture of the tibia the larger of the two bones in the lower leg that has healed incorrectly. The pseudarthrosis usually develops within the first two years of life. A fracture with nonunion generally forms a structural resemblance to a fibrous joint, and is therefore often called a false joint or pseudoarthrosis the greek stem pseudo means false and arthrosis means joint. Between 40% and 80% are associated with neurofibromatosis.