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 develops spontaneously or after minimal trauma in a segment of abnormal tibial diaphysis. Anteroposterior xrays revealed distal tibia and fibula fractures figure 1 with associated. 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. 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. I postulated that the large cross sectional area of union made it almost impossible to break the tibia. Congenital tibial dysplasia congenital pseudoarthrosis of. The results were assessed so as to emphasise function rather than simply the presence or absence of union. This congenital pseudarthrosis of the tibia cpt is one of the most complex and disabling paediatric skeletal diseases. Treat the congenital pseudarthrosis of the tibia with. 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 pseudoarthrosis of the tibia radiology reference. Congenital pseudarthrosis is characterized by anterolateral bowing of the tibia, with tapering of the tibia at the defective site. You may not embed one of our images on your web page without a link back to our site.
The effect of combined surgery in management of congenital. The pseudarthrosis usually develops during the first 2 years of life but has been diagnosed both antenatally and in adulthood 1. 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 of the tibia cpt is a childhood disease causing serious morbidity during its natural course. Congenital pseudarthrosis of the tibia request pdf.
Congenital pseudarthrosis of the tibia sciencedirect. Congenital pseudoarthrosis tibia linkedin slideshare. Cpt is a rare disease, but the prevalenve is higher in norway. 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. Clinical data were classified and analyzed based on nf1 gene variations. If you have problems viewing pdf files, download the latest version of adobe reader. Here we screened germline variants of 75 cpt cases, including 55 nf1 and 20 nonnf1. We performed five transfers of the ipsilateral fibula in the treatment of congenital pseudarthrosis of the tibia. Congenital pseudoarthrosis of the tibia ankle surgery. History, etiology, classification, and epidemiologic data article pdf available in journal of pediatric orthopaedics b 91. 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. A coincidence with neurofibromatosis type i is a wellknown fact, first described in 1937.
Radiological classification of congenital pseudarthrosis of the tibia. A short series of congenital pseudoarthrosis tibia. The anterolateral bowing of the leg is known to be usually idiopathic or due to congenital pseudarthrosis of the tibia cpt. 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.
Current treatment of congenital pseudarthrosis of the tibia. Congenital pseudarthrosis of the tibia seems to be related to neurofibromatosis. The pseudarthrosis usually develops during the first 2 years of life but has been diagnosed both antenatally and in adulthood. Classifications of radiographic findings include atrophic or hypertrophic pseudarthosis as well as cystic or dystrophic lesions. Tis may also account for why younger children refracture more easily, while older children have a lower incidence of refracture. The problems of managing congenital pseudarthrosis of the tibia include difficulty in obtaining union, refractures, limblength inequality, and deformities of the ankle and leg. In 50% of cases, there is a link with neurofibromatosis recklinghausensyndrom recognizable by the formation of cafe au lait spots on the skin. If you would like a large, unwatermarked image for your web page or blog, please purchase the appropriate license. Congenital pseudarthrosis of the tibia and neurofibromatosis.
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. Click on the link to view a sample search on this topic. Anatomical the pathology histological studies show that there is a marked cuff of. 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. To clarify the current situation in treatment, a multicenter study was carried out to obtain information on the results of cpt treatment. Treatment approaches for congenital pseudarthrosis of tibia. Sep 12, 2016 mathieu l, vialle r, theveninlemoine c, mary p, damsin jp. This incorrect bone healing is referred to by orthopedists as nonunion. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Congenital tibia pseudarthrosis pseudarthrose pseudarthrosis. 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. Increasing the crosssectional area in healed segments may reduce the incidence of refracture.
We studied the outcomes of 28 children that were treated for cpt between 2005 and 20. Congenital pseudarthrosis of the fibula and valgus deformity of the ankle in young children. 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. Pdf congenital pseudarthrosis of the tibia is a rare disease with a variable. 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 differential diagnosis of congenital pseudarthrosis of. The key to the solution of this problem lies in the differential diagnosis. Congenital pseudarthrosis of the tibia cpt is a rare disease. Treatment of congenital pseudarthrosis of the tibia. A retrospective study of surgical treatment of congenital. Histopathology of congenital pseudarthrosis of tibia. Effect of distraction osteogenesis in patient with tibial.
Congenital pseudarthrosis of the tibia 753 figure 3 4 stage crawford classi. 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. Vascularised fibula grafts for early tibia reconstruction. A 4yearold girl with neurofibromatosis type 1 nf1 was admitted to the emergency department, with a leftsided limp and pain. 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.
Mr imaging of congenital pseudarthrosis allows assessment of the type and extension of the disease. The cause of congenital pseudarthrosis of the tibia is unclear. 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. Association of ilizarovs technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia. Radiological classification of congenital pseudarthrosis.
Sep 18, 2019 congenital pseudarthrosis of the tibia cpt is a rare disease. Management of congenital pseudoarthrosis of the tibia and fibula. 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. Congenital pseudoarthrosis of the tibia and fibula are rare conditions that share common treatment strategies. Presently, preventing complications is a challenge. Femoral overgrowth in children with congenital pseudarthrosis. Treatment of cpt requires solving more than one issue in the affected extremity. Definition pseudarthrosis is a false joint associated with abnormal movements at the site 3. It is a rare condition associated sometimes with neurofibromatosis and is prone to pathological fracture and recurrence with shortening.
Congenital pseudarthrosis of the tibia in pediatric patients. Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. A pseudarthrosis is defined as a false joint and is a break in the bone that fails to heal on its own. Introduction congenital pseudarthrosis of tibia refers to nonunion of tibial fracture that develops spontaneously or after trival trauma in a dysplastic bone.
Dec 28, 2015 johnston clinical evaluation criterion of congenital pseudarthrosis of tibia cpt. Te results of treatment of congenital pseudarthrosis of the tibia cpt are frequenlty complicated by failure to acheive union, refracture, deformity, leg length. Congenital pseudarthrosis is a rare pediatric orthopaedic condition with its incidence being less than 110 that of ddh developmental dysplasia of the hip. To investigate the pathological changes and kinds of cell and origin of congenital pseudarthrosis of tibia cpt. We here report a case of proximal cpt managed in a limbsparing perspective and followed up until the end of growth. 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 pseudoarthrosis of the tibia free download as powerpoint presentation. 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. Some patients finally undergo amputation because of improper treatment and. Epidemiological data are limited, and treatment of the condition is challenging. Congenital pseudoarthrosis in a child with neurofibromatosis.
As the problems may develop at different stages of growth, these children must be followed till skeletal maturity. 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. Management of congenital pseudoarthrosis of the tibia and. Treatment of congenital pseudarthrosis of the tibia cpt by intramedullary rod im fixation was originally described by charnley 1956 1, with a transankle.
The objective of this study was to propose appropriate treatment guidelines for cpt. Congenital pseudarthrosis of the tibia treated with. Pdf congenital pseudarthrosis of the tibia cpt is likely to be a primary periosteal disease and secondary bone disease. The osseous dysplasia leads to a tibial nonunion and, because of tibial bowing and reduced growth in the distal tibial epiphysis. Some patients present neurofibromatosis type 1 nf1, while some others do not manifest nf1 nonnf1. At the site of insufficient bone healing, white fibrous tissue substitutes the bone.
The osseous dysplasia leads to a tibial nonunion and, because of tibial. Congenital pseudarthrosis of the tibia cpt is difficult to treat in pediatric patients. The etiology is unknown in the majority of the cases, but neurofibromatosis is present in 40% of the patients 1, 2. Congenital pseudarthrosis of tibia linkedin slideshare. David feldman live talking about congenital pseudarthrosis of the tibia for fridays with feldman. 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. Paley d 2012 congenital pseudarthrosis of the tibia. A thickened cuff of periosteum and interruption of the bone compacta are noted.
If a patient presents anterolateral bowing, with radiographic tibial abnormalities demonstrating risk of cpt, but prior to any true fracture, both non. Congenital pseudarthrosis of the tibia is a rare clinical entity resis tant to all forms of therapy during infancy and early childhood. Unfortunately, the steel plate broke after 3 months, which led to ankle angle deformity. Congenital angulation of the lower leg and congenital pseudarthrosis of the tibia in denmark. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. Fifty percent of cases are associated with 4 neurofibromatosis, ten percent with fibrous dysplasia or campanaccis osteofibrous dysplasia 5 and forty percent are idiopathic.
Congenital pseudarthrosis of the tibia cpt is a rare pathology, which is usually associated with neurofibromatosis type i. Congenital pseudarthrosis of the tibia paley orthopedic. Examination revealed a varus deformity of the left leg, which was 5 cm shorter than the right. Combined surgery with 3in1 osteosynthesis in congenital. For language access assistance, contact the ncats public information officer. Original article congenital pseudarthrosis of the tibia. Records of 73 patients with cpt who underwent surgical treatment were collected from 32 hospitals. Management of congenital pseudarthrosis of the tibia with. Cases in which systemic skeletal diseases have contributed to the occurrence of the fracture or pseudarthrosis were excluded. Treat the congenital pseudarthrosis of the tibia with ilizarov technology. Congenital pseudarthrosis medigoo health tests and.
The reported incidence of congenital pseudarthrosis of the tibia cpt varies between 1. 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. Refracture is the most serious complication in congenital pseudarthrosis of the tibia cpt. Identification and characterization of nf1 and nonnf1.
The etiology of cpt, particularly nonnf1 cpt, is not well understood. Objective congenital pseudoarthrosis of the tibia is still a mystery and a great. 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 is characterized by anterolateral deformity of the tibia and shortening of the limb.
A 17yearold girl presented with type1 neurofibromatosis and proximal cpt. It is challenging to treat effectively this difficult condition and its possible complications. Pubmed is a searchable database of medical literature and lists journal articles that discuss congenital pseudoarthrosis. Feldman presenting live on congenital pseudarthrosis of. Neurofibromatosis was reported in 40% to 80% of patients suffering from congenital pseudarthrosis of the tibia 4, 7. Proximal location of congenital pseudarthrosis of the tibia cpt is uncommon, and its management challenging, risking to end in amputation. Congenital pseudoarthrosis genetic and rare diseases. Pseudarthrosis, or pseudoarthrosis, implies the formation of a false joint, usually following a fracture, with no attempt at repair. The pseudarthrosis usually develops within the first two years of life. Congenital pseudarthrosis of the tibia cpt refers to nonunion of a tibial fracture that develops spontaneously or after a minor trauma. Cpt is rare, with an incidence of 1 per 190,000 live births.
The results in skeletally mature patients in whom type4 cpt had been treated with an im rod at an average of 11. In all cases, conventional treatment by intramedullary rod and autogenousiliac bone grafting had failed at least once. Aug 01, 20 congenital pseudarthrosis of the tibia cpt develops spontaneously or after minimal trauma in a segment of abnormal tibial diaphysis. Watch to learn about our unprecedented 100% rate of union with zero refractures. In a few cases, this condition has a benign course of nondysplastic anterolateral bowing. A detailed history was taken and there was no suspicion of physical abuse. Although several classification systems have been proposed, none provides specific guidelines for management.
Summary we used free vascularized fibula transfers to treat 12 patients with congenital pseudarthrosis of the tibia. Recent literature has focused on the use of bmp and on gait analysis as a tool for measuring longterm functional outcomes. Congenital pseudarthrosis of the tibia in pediatric. Congenital pseudarthrosis of the tibia is a rare pediatric disorder that often presents with anterolateral bowing of the. Treatment of congenital pseudarthrosis of the tibia cpt remains a challenge.