Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR).

BACKGROUND: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. OBJECTIVE: To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis). METHODS: We analyzed the incidence of recurrence and post-surgical complications in 49 XLHR patients (29F, 20M) (mean age at diagnosis 6.0 years (± 7.1)). RESULTS: At first surgery, the mean age was 13.4 years (± 5.0). Recurrence was observed in 14/49 (29%) patients. The number of additional operations significantly decreased with age (2.0 (± 0.9), 1.7 (± 1.0) and 1.2 (± 0.4) in children <11 years, between 11 and 15, and >15 years; P < 0.001). Incidence of recurrence seemed to be lower in patients with good metabolic control of the rickets (25% vs 33%). Complications were observed in 57% of patients. CONCLUSION: We report a large series of surgical procedures in XLHR. Our results confirm that phosphate supplements and vitamin D analog therapy is the first line of treatment to correct leg bowing. Surgery before puberty is associated with a high risk of recurrence of the limb deformity. Such procedures should only be recommended, following multidisciplinary discussions, in patients with severe distortion leading to mechanical joint and ligament complications, or for residual deformities once growth plates have fused.

Osteotomy and fracture fixation in children and teenagers.

Significant changes have occurred recently in fixation methods following fracture or osteotomy in children and teenagers. Children have benefited the most from these advances. A child's growth is anatomically and physiologically ensured by the growth plate and periosteum. The need to keep the periosteum intact during trauma cases has led to the introduction of flexible intramedullary nailing. We will review the basic principles of this safe, universally adopted technique, and also describe available material, length and diameter options. The problems and the limitations of this method will be discussed extensively. In orthopedics, the desire to preserve the periosteum has led to the use of locking compression plates. Because of their low profile and high stability, they allow the micromovements essential for bone union. These new methods reduce the immobilization period and allow autonomy to be regained more quickly, which is especially important in children with neurological impairment. The need to preserve the growth plate, which is well known in pediatric surgery, is reviewed with the goal of summarizing current experimental data on standard fracture and osteotomy fixation methods. Adjustable block stop wires provide better control over compression. These provide an alternate means of fixation between K-wires and screws (now cannulated) and have contributed to the development of minimally invasive surgical techniques. The aim of this lecture is to provide a rationale for the distinct technical features of pediatric surgery, while emphasizing the close relationship between the physiology of growth, bone healing and technical advances.

[Epidemiology of equestrian injuries in children]. / Les traumatismes liés à l'équitation chez l'enfant, une étude épidémiologique rétrospective de 13 années.

PURPOSE: Children increasingly participate in horseback riding, especially young girls, with more and more accidents during this activity. The severity of the injuries caused by horses seems to be higher than in other sports. METHODS: In a retrospective study, we reviewed 303 accidents of children younger than 15 years of age during the past 13 years. Our study only investigated children who were hospitalized after their accident. RESULTS: Eighty-two percent of the injured children were girls, but there was no difference between girls and boys in terms of severity. In most cases, children were hurt by falling from the horse (87 %). In the other cases, they were kicked or bitten by the animal. The most frequent trauma sustained was fracture (50 %). The upper extremity was injured in 40 % of the traumas followed by the head (32 %). The lower limbs, the abdomen, the spine, or the thorax were injured in less than 10 % of the incidents. The severity of the accidents was studied with the Injury Severity Score and we compared groups of children. Children younger than 11 years old were more severely injured than older children (P=0.0002). CONCLUSION: The youngest horseback riders should be supervised carefully to avoid severe injuries during this activity.

[Osteochondritis dissecans of the femoral condyles: report of 892 cases]. / L'ostéochondrite disséquante des condyles fémoraux.

PURPOSE OF THE STUDY: Osteochondritis rarely involves the femoral condyles. Discovery in this localization raises several questions concerning the nature of the articular cartilage, the potential for spontaneous healing, and, in the event of a free fragment, the outcome after its loss or repair. MATERIAL AND METHODS: This multicentric study included 892 pediatric and adult cases, the cutoff between two series being defined by fusion of the inferior growth plate. We excluded medical or surgical osteochondritis, cases involving the patella, osteochondral fractures, juvenile polyosteochondrosis, adult osteonecrosis, and osteochondritis beginning after the age of 50 years. RESULTS: Mean age at diagnosis was 16.5 years. Mean age at treatment onset was 22 years. Pain was the predominant symptom. 80% of cases were unilateral and 70% involved the medial condyle. The anatomic lesions were different in adults, showing more advanced degradation. At diagnosis, Bedouelle stages Ia and IIb constituted 80% of the cases observed among children while in adults, 66% were Bedouelle stages IIb to IV. Outcome was very good for the majority of children with Hughston clinical stage 4 while half of the x-rays were Hughston stage 3 and 4. There were thus a large percentage of children with abnormal xrays whose disease history was not yet terminated. In the adult series, the percentages of Hughston 3 and 4 was about the same as clinically. The x-rays were rarely perfectly normal since half of the clinical stage 3 patients were noted in stage 4. An abnormal x-ray with a very good clinical presentation was observed in a very large proportion of patients. DISCUSSION: It is difficult to interpret the plain x-ray and identify patients with a potentially unfavorable prognosis. We defined three radiographic classes: defect, nodule and empty notch. The Bedouelle classification uses information from all available explorations, particularly MRI and arthroscopy. Numerous therapeutic methods are used. Interruption of sports activities is the first intention treatment for children. Data in the literature and the findings of this symposium do not demonstrate any beneficial effect of immobilization on healing compared with simple abstention from sports activities. Transchondral perforation is a simple operation with low morbidity. In 85% of cases, it was used for lesions with an intact joint cartilage considered stable in 96% of cases. Healing was achieved in six months for 48% if the growth plate had not fused. The fragment was fixed in 43% of the cases with a loose cartilage fragment. Outcome was fair but degraded with the state of the joint cartilage and thus the stability of the fragment. Fixation must stabilize the fragment but not prevent further consolidation via osteogenesis. This is why deep perforations are drilled beyond the ossified area and additional osteochondral grafts are used. The Wagner operation gives less satisfactory results than more complicated procedures. Removal of a sequestrum is a simple, minimally invasive procedure with an uneventful postoperative period, but in the long term it favors osteoarthritic degradation, especially when performed in adults. Mosaic grafts give good mid term results. Morbidity is low especially if the grafts are harvested above the notch. The question of chondrolysis around the grafts was beyond the scope of this study. Chondrocyte grafting is difficult to accomplish and is expensive. The mid term results are good for large lesions. Osteotomy is logical only in the event of early stage osteoarthritic degradation. DECISION ALGORITHM IN CHILDREN AND ADOLESCENTS: If the plain x-ray reveals a defect (class I), simple interruption of sports activities should be proposed. Two situations can then develop. First, in a certain number of patients, the pain disappears as the defective zone ossifies progressively. Complete cure is frequent before the age of 12 years. In the second situation, the knee remains painful and the x-ray does not change or worsens to a class II nodular formation. In this case an MRI must be obtained to determine whether the joint cartilage is normal. There are two possibilities. First, the osteochondral fragment is viable and most probably will become completely re-integrated, particularly if the lesion is far from the growth plate. Necrosis is the other possibility. Transchondral perforations are needed in this case. If on the contrary the cartilage is altered, there is little hope for spontaneous cure. Arthroscopy may be needed to complete the exploration. Fragments, especially if there is a large surface area, must be fixed. Perforations to favor revascularization are certainly useful here. In the last situation (class III), the fragment wobbles on a thin attachment or has already fallen into the joint space. This is the type of problem generally observed in adults. The decision algorithm in adults is the same as in children for the rare nodular aspects (class II). There could be a discussion between transcartilage perforation and fixation. If there are a large number of fragments, fixation may not be fully successful and the lesion might be considered class III. For class III lesions, three operations can be used: removal of the sequestrum, mosaic bone-cartilage grafts, or autologous chondrocyte grafts. At the same follow-up, mosaic grafts give better results than excision of sequestra. It may be useful to remove sequestra in a limited number of situations: if there is just a small area of osteochondritis, the lesion is old and partially healed, or the zone is non weight-bearing. For other lesions, we favor mosaic grafts. We still do not have enough follow-up to assess the long-term outcome with these mosaic grafts, but simple excision clearly favors osteoarthritic degradation. Can chondrocytes grafts be compared with mosaic grafts? Chondrocyte grafts have been used for very large lesions and have given results similar to mosaic grafts. It might also be possible to combine fixation of a loose fragment and a mosaic graft. LESSONS FROM THIS STUDY: 1) The prognosis of osteochondritis is better before than after fusion of the growth plate but the lesion does not always heal in children. 2) Presence of osteochondritis requires complementary anatomic and functional exploration to determine the stability and the vitality of the fragment. 3) Attention must be taken to perform transchondral perforations early enough, particularly in children. 4) Screw fixation is not always sufficient. The trophicity of the fragment and its blood supply must be improved. 5) Mosaic grafts are preferable to excision of the fragment. 6) Chondrocyte grafts will be more widely used in the future.

Olecranon fractures in 26 children with mean follow-up of 59 months.

The authors report clinical and radiologic results of a series of 26 children who sustained an olecranon fracture, reviewed with a mean follow-up of 59 months. Mean age at time of trauma was 9 years. Direct trauma was the most common mechanism, and a radial head fracture was associated in one third of the cases. The fracture type usually consisted of a single fracture line, with a displacement >2 mm in one third of the cases. Treatment was usually conservative for nondisplaced or minimally displaced fractures, whereas open reduction with tension-wire pinning was proposed for displaced fractures. Clinical results were good, but radiologic results were less satisfying because of residual displacement on postoperative reviews. There was no functional impairment at final follow-up. Three patients from the surgically treated group with associated radial head fractures demonstrated a growth disturbance, possibly related to an ischemic cause.

A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature.

The authors present a de novo complex chromosomal rearrangement 46,XY,t(2q;3p;4q;13q) associated with Hirschsprung's disease. They review the literature concerning genetic aspects of Hirschsprung's disease focusing on genetic studies and recent molecular research. Genetic aspects of intestinal neuronal dysplasia are also briefly discussed.

[Treatment of neglected Monteggia's fracture by ulnar lengthening using the Ilizarov technique]. / Traitement de la fracture de Monteggia négligée par allongement de l'ulna avec la technique d'Ilizarov.

We present an original method for the treatment of neglected Monteggia fractures using the Ilizarov technique. This method allows reduction without accessing the radial head by progressive ulnar lengthening after proximal subperiosteal osteotomy of the ulnar bone. We used this method in a six and a half year old girl and achieved excellent radiographical and functional results with normal joint amplitudes. In our opinion, the quality of the outcome is related to the progressiveness of the bone lengthening enabled by this technique which allows restoration of the ulnar length, preservation of the axes of both forearm bones, and controlled reduction of the radial head.

[Prognostic factors of secondary complications in pediatric traumatology: a prospective study of 700 patients]. / Facteurs pronostiques de complications secondaires en traumatologie pédiatrique: enquête prospective sur 700 patients.

BACKGROUND: The objective of the study was to estimate prevalence of therapeutic complications in a department of orthopedics pediatric surgery, and to determine predictors of minor and serious complications. METHODS: Between November 1996 and 1997, children less than or equal to 17 years of age, admitted for bone fracture (head and face excepted) were selected in a prospective study. In all, 700 children were treated until bone consolidation. Individual, socio-economic, anatomical, environmental and therapeutic factors were progressively registered. All complications were noted. RESULTS: The mean age of the children was 9.2 years; 25 patients could not be traced. Prevalence rate of therapeutic complications was 10.3%. In multivariate analysis using logistic regression, six factors increased the risk of adverse event: kind of fracture (diaphysial), comminuted aspect, compounded fracture and bone displacement, season (spring and autumn), and use of medical transport between accident place and hospital. The same factors, season and compounded fracture excepted, were predictors of serious complications. CONCLUSION: The results show that therapeutic complications depend on anatomical and environmental factors above all, and that medical procedure is not a prognosis factor. So if prevention of fractures is possible before injury, a better knowledge of initial risk can improve prevention of complications.

Cricopharyngeal achalasia--a cause of major dysphagia in a newborn. A case report.

Cricopharyngeal achalasia is a rare cause of neonatal dysphagia. Its treatment is based on surgical myotomy, which is to be avoided in the presence of prematurity and neurological diseases. The authors report a case of cricopharyngeal achalasia in a full-term four-month-old female baby. Coughing and choking during feeds were the major symptoms. The diagnosis was made peroperatively although barium meal and endoscopic findings were suggestive. After cricopharyngeal myotomy, symptoms took several weeks to disappear. Seven months after surgery, she feeds normally and weighs 7,700 g. Neonatal cricopharyngeal achalasia could be a foregoing state to cricopharyngeal diverticula in adult. Some cases may remain undiagnosed either due to lack of symptoms or sudden infant death.

Treatment of Madelung's deformity by lengthening and reaxation of the distal extremity of the radius by Ilizarov's technique.

Madelung's deformity was first described in 1878. It is characterised by a typical deformity of the carpus and not only causes pain but also impedes mobility and aesthetic appearance. Surgical correction can be effected during adolescence, the most frequently employed technique being conical osteotomy. We present a novel technique of lengthening and aligning the distal radial extremity using Ilizarov's technique. Five carpal joints were operated on in three 13-year old girls. An aesthetic effect was obvious in all the cases. Mobility improved by 30 degrees in the direction of the extension and pain always subsided directly after surgery.

Congenital extra-hepatic portocaval shunt. Concerning a case of antenatal diagnosis.

The authors report a case of congenital extra-hepatic portocaval shunt in a two-year-old girl. While pointed out antenatally by ultrasound and suspected by a follow-up ultrasound at the age of two years, this anomaly could be confirmed only by coupled ultrasound scanning and color Doppler, which allows for dynamic anatomic and morphologic evaluation. Comments concern mainly the embryologic hypothesis and the clinical tolerance of this malformation (because no therapeutic measures were adopted).

[Superior femoral epiphysiolysis. Long term results]. / Epiphysiolyse fémorale supérieure. Résultats à long terme.

Analysis of the long-term outcome of slipped capital femoral epiphysis convincingly demonstrates that early diagnosis is essential. Chronic slipping with significant displacement are associated with a high rate of adverse outcomes including necrosis, chondrolysis, and early osteoarthritis. Orthopedic reduction increases the risk of complications. Inadequate reduction is associated with poor hip function and a high risk of early osteoarthritis. Improvements in overall long-term outcome could be achieved only by reducing the number of chronic forms with major displacement, since prognosis is generally favorable in acute forms and chronic forms with minor displacement.