Treatment of congenital pseudarthrosis of the tibia cpt by intramedullary rod im fixation was originally described by charnley 1956 1, with a transankle fixation technique described later by williams 1965 2. Treatment of cpt requires solving more than one issue in the affected extremity. Watch to learn about our unprecedented 100% rate of union with zero refractures. Congenital pseudarthrosis of the tibia sciencedirect. Combined surgery with 3in1 osteosynthesis in congenital. Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. If you would like a large, unwatermarked image for your web page or blog, please purchase the appropriate license. Our study compared the rates of union achieved with the ilizarov method in congenital pseudarthrosis of the tibia cpt associated with neurofibromatosis type 1 nf1 or cpt of idiopathic origin in paediatric patients. Congenital pseudarthrosis is characterized by anterolateral bowing of the tibia, with tapering of the tibia at the defective site. Congenital pseudoarthrosis genetic and rare diseases.
Congenital pseudarthrosis of the tibia is characterized by anterolateral deformity of the tibia and shortening of the limb. Congenital pseudarthrosis of the tibia cpt is a rare pathology, which is usually associated with neurofibromatosis type i. A retrospective study of surgical treatment of congenital. I postulated that the large cross sectional area of union made it almost impossible to break the tibia. Cases in which systemic skeletal diseases have contributed to the occurrence of the fracture or pseudarthrosis were excluded. Increasing the crosssectional area in healed segments may reduce the incidence of refracture.
A thickened cuff of periosteum and interruption of the bone compacta are noted. Congenital pseudarthrosis of the tibia cpt is a childhood disease causing serious morbidity during its natural course. Treat the congenital pseudarthrosis of the tibia with. If you have problems viewing pdf files, download the latest version of adobe reader. We performed five transfers of the ipsilateral fibula in the treatment of congenital pseudarthrosis of the tibia. According to heftis topographic classification, it is proximal in only 2% of cases, and there are in fact no studies that specifically concern such a location which, however, has notable particularities.
Management of congenital pseudarthrosis of the tibia with. Congenital pseudarthrosis of the tibia is a rare clinical entity resis tant to all forms of therapy during infancy and early childhood. History, etiology, classification, and epidemiologic data article pdf available in journal of pediatric orthopaedics b 91. You may not embed one of our images on your web page without a link back to our site. The etiology is unknown in the majority of the cases, but neurofibromatosis is present in 40% of the patients 1, 2. Treatment of congenital pseudarthrosis of the tibia. Paley d 2012 congenital pseudarthrosis of the tibia.
Anteroposterior xrays revealed distal tibia and fibula fractures figure 1 with associated. 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. Epidemiological data are limited, and treatment of the condition is challenging. We studied the outcomes of 28 children that were treated for cpt between 2005 and 20. Congenital pseudarthrosis of the tibia cpt is a rare disease. Management of congenital pseudoarthrosis of the tibia and fibula. 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. In order to establish the relationship, and if possible to make further distinc tions among cases of congenital pseud arthrmis of the tibia the following in vestigation was carried out. 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.
Treatment approaches for congenital pseudarthrosis of tibia. Congenital pseudarthrosis of the tibia paley orthopedic. Feldman presenting live on congenital pseudarthrosis of. Congenital pseudarthrosis of the tibia 753 figure 3 4 stage crawford classi. Examination revealed a varus deformity of the left leg, which was 5 cm shorter than the right. Te results of treatment of congenital pseudarthrosis of the tibia cpt are frequenlty complicated by failure to acheive union, refracture, deformity, leg length. The anterolateral bowing of the leg is known to be usually idiopathic or due to congenital pseudarthrosis of the tibia cpt. Congenital pseudarthrosis is a rare pediatric orthopaedic condition with its incidence being less than 110 that of ddh developmental dysplasia of the hip.
Records of 73 patients with cpt who underwent surgical treatment were collected from 32 hospitals. Association of ilizarovs technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia. Congenital pseudoarthrosis of the tibia radiology reference. The differential diagnosis of congenital pseudarthrosis of. Treat the congenital pseudarthrosis of the tibia with ilizarov technology.
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. Congenital pseudoarthrosis of the tibia and fibula are rare conditions that share common treatment strategies. A coincidence with neurofibromatosis type i is a wellknown fact, first described in 1937. Congenital pseudarthrosis of the tibia in pediatric patients. Refracture is the most serious complication in congenital pseudarthrosis of the tibia cpt. It is a rare condition associated sometimes with neurofibromatosis and is prone to pathological fracture and recurrence with shortening.
Vascularised fibula grafts for early tibia reconstruction. To investigate the pathological changes and kinds of cell and origin of congenital pseudarthrosis of tibia cpt. Congenital pseudarthrosis of the tibia cpt develops spontaneously or after minimal trauma in a segment of abnormal tibial diaphysis. Femoral overgrowth in children with congenital pseudarthrosis. The osseous dysplasia leads to a tibial nonunion and, because of tibial. Identification and characterization of nf1 and nonnf1. Aug 21, 2015 congenital pseudarthrosis of the tibia cpt is one of the most difficult orthopedics problems to manage in world, occurring in 1 in 190,000 live births. Pubmed is a searchable database of medical literature and lists journal articles that discuss congenital pseudoarthrosis. Anatomical the pathology histological studies show that there is a marked cuff of. Congenital pseudarthrosis of the tibia in pediatric. A short series of congenital pseudoarthrosis tibia. 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. This congenital pseudarthrosis of the tibia cpt is one of the most complex and disabling paediatric skeletal diseases. Congenital pseudarthrosis of the tibia request pdf.
Management of congenital pseudoarthrosis of the tibia and. The osseous dysplasia leads to a tibial nonunion and, because of tibial bowing and reduced growth in the distal tibial epiphysis. Effect of distraction osteogenesis in patient with tibial. 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. The purpose of our study was to gain epidemiological data on the incidence of cpt in norway and to evaluate the treatment outcome of the disease. Congenital pseudarthrosis of the tibia treated with. Histopathology of congenital pseudarthrosis of tibia. 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.
In 50% of cases, there is a link with neurofibromatosis recklinghausensyndrom recognizable by the formation of cafe au lait spots on the skin. A 17yearold girl presented with type1 neurofibromatosis and proximal cpt. The pseudarthrosis usually develops during the first 2 years of life but has been diagnosed both antenatally and in adulthood 1. Congenital pseudarthrosis of the tibia cpt refers to nonunion of a tibial fracture that develops spontaneously or after trivial trauma in a dysplastic bone segment of. Congenital tibial dysplasia congenital pseudoarthrosis of. Congenital angulation of the lower leg and congenital pseudarthrosis of the tibia in denmark. Congenital tibia pseudarthrosis pseudarthrose pseudarthrosis. Congenital pseudarthrosis of the tibia cpt refers to nonunion of a tibial fracture that develops spontaneously or after a minor trauma. Here we screened germline variants of 75 cpt cases, including 55 nf1 and 20 nonnf1.
Congenital pseudoarthrosis in a child with neurofibromatosis. The effect of combined surgery in management of congenital. Congenital pseudoarthrosis tibia linkedin slideshare. Clinical data were classified and analyzed based on nf1 gene variations. A pseudarthrosis is defined as a false joint and is a break in the bone that fails to heal on its own. Congenital pseudarthrosis of tibia linkedin slideshare. Congenital pseudoarthrosis of the tibia free download as powerpoint presentation. Pdf congenital pseudarthrosis of the tibia is a rare disease with a variable. The key to the solution of this problem lies in the differential diagnosis. Congenital pseudarthrosis medigoo health tests and. Click on the link to view a sample search on this topic. Congenital pseudarthrosis of the tibia cpt is difficult to treat in pediatric patients.
Classifications of radiographic findings include atrophic or hypertrophic pseudarthosis as well as cystic or dystrophic lesions. 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. To clarify the current situation in treatment, a multicenter study was carried out to obtain information on the results of cpt treatment. With the development of techniques in the last decade, especially the combined surgery of ilizarov device, bone grafting and intramedullary fixation, the primary bone union rate has increased to 86 % 25.
There are also six different types of true congenital pseudarthrosis which exhibit similar differences in behaviour and. Treat the congenital pseudarthrosis of the tibia with ilizar. Congenital pseudoarthrosis of the tibia ankle surgery. This incorrect bone healing is referred to by orthopedists as nonunion. If a patient presents anterolateral bowing, with radiographic tibial abnormalities demonstrating risk of cpt, but prior to any true fracture, both non. Unfortunately, the steel plate broke after 3 months, which led to ankle angle deformity. Pseudarthrosis, or pseudoarthrosis, implies the formation of a false joint, usually following a fracture, with no attempt at repair. Treatment of congenital pseudarthrosis of the tibia cpt by intramedullary rod im fixation was originally described by charnley 1956 1, with a transankle. Hallock, h the use of multiple small bone transplants in the treatment of pseudarthrosis of the tibia of congenital origin or following ostectomy for the correction of the congenital deformity, j.
Introduction congenital pseudarthrosis of tibia refers to nonunion of tibial fracture that develops spontaneously or after trival trauma in a dysplastic bone. Sep 18, 2019 congenital pseudarthrosis of the tibia cpt is a rare disease. Congenital pseudarthrosis of the tibia seems to be related to neurofibromatosis. Congenital pseudarthrosis of the tibia is taken to mean all congenital fractures of the tibia as well as pseudarthroses of thc tibia arising after pathological fracture in a tibia with congenital anterior angulation. The pseudarthrosis usually develops within the first two years of life. Definition pseudarthrosis is a false joint associated with abnormal movements at the site 3. The etiology of cpt, particularly nonnf1 cpt, is not well understood. It is challenging to treat effectively this difficult condition and its possible complications. A 4yearold girl with neurofibromatosis type 1 nf1 was admitted to the emergency department, with a leftsided limp and pain. 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. The cause of congenital pseudarthrosis of the tibia is unclear. The reported incidence of congenital pseudarthrosis of the tibia cpt varies between 1. Congenital pseudarthrosis of the tibia and neurofibromatosis.
There are reports that children with small crosssectional areas in the sections of the pseudarthrosis are more prone to refracture. At the site of insufficient bone healing, white fibrous tissue substitutes the bone. Congenital pseudarthrosis of the fibula and valgus deformity of the ankle in young children. We here report a case of proximal cpt managed in a limbsparing perspective and followed up until the end of growth. Objective congenital pseudoarthrosis of the tibia is still a mystery and a great. The pseudarthrosis usually develops during the first 2 years of life but has been diagnosed both antenatally and in adulthood. Radiological classification of congenital pseudarthrosis of the tibia.
Current treatment of congenital pseudarthrosis of the tibia. Although several classification systems have been proposed, none provides specific guidelines for management. Some patients finally undergo amputation because of improper treatment and. Congenital pseudarthrosis of the tibia is a rare pediatric disorder that often presents with anterolateral bowing of the. Aug 01, 20 congenital pseudarthrosis of the tibia cpt develops spontaneously or after minimal trauma in a segment of abnormal tibial diaphysis. Pdf congenital pseudarthrosis of the tibia cpt is likely to be a primary periosteal disease and secondary bone disease. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. The problems of managing congenital pseudarthrosis of the tibia include difficulty in obtaining union, refractures, limblength inequality, and deformities of the ankle and leg. Some patients present neurofibromatosis type 1 nf1, while some others do not manifest nf1 nonnf1. The results were assessed so as to emphasise function rather than simply the presence or absence of union.
Dec 28, 2015 johnston clinical evaluation criterion of congenital pseudarthrosis of tibia cpt. Radiological classification of congenital pseudarthrosis. This study assessed the outcomes, at skeletal maturity, for 34 patients in whom congenital pseudarthrosis of the tibia cpt had been treated with intramedullary im rod fixation. Cpt is rare, with an incidence of 1 per 190,000 live births. Mr imaging of congenital pseudarthrosis allows assessment of the type and extension of the disease. 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. The objective of this study was to propose appropriate treatment guidelines for cpt. The results in skeletally mature patients in whom type4 cpt had been treated with an im rod at an average of 11.
For language access assistance, contact the ncats public information officer. Original article congenital pseudarthrosis of the tibia. Cpt is a rare disease, but the prevalenve is higher in norway. Proximal location of congenital pseudarthrosis of the tibia cpt is uncommon, and its management challenging, risking to end in amputation. As the problems may develop at different stages of growth, these children must be followed till skeletal maturity. David feldman live talking about congenital pseudarthrosis of the tibia for fridays with feldman. Presently, preventing complications is a challenge. Fifty percent of cases are associated with 4 neurofibromatosis, ten percent with fibrous dysplasia or campanaccis osteofibrous dysplasia 5 and forty percent are idiopathic. In all cases, conventional treatment by intramedullary rod and autogenousiliac bone grafting had failed at least once. In a few cases, this condition has a benign course of nondysplastic anterolateral bowing. Sep 12, 2016 mathieu l, vialle r, theveninlemoine c, mary p, damsin jp.
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