RESUMEN
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome.
Asunto(s)
Coxa Vara , Humanos , Femenino , Coxa Vara/diagnóstico , Proteoglicanos/genética , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/diagnóstico , Artropatía Neurógena/genética , Artropatía Neurógena/diagnóstico , Derrame Pericárdico/diagnóstico , Deformidades Congénitas de las Extremidades Superiores/genética , Deformidades Congénitas de las Extremidades Superiores/diagnóstico , Deformidades Congénitas de las Extremidades Superiores/complicaciones , Pericarditis Constrictiva/diagnóstico , Pericarditis Constrictiva/complicaciones , Pericarditis Constrictiva/cirugía , Deformidades Congénitas de las Extremidades Inferiores/genética , Deformidades Congénitas de las Extremidades Inferiores/diagnóstico , Pericardiectomía , Mutación , Diagnóstico Diferencial , SinovitisRESUMEN
BACKGROUND: Coxa vara is a condition in which the neck-shaft angle of the femur decreases below its normal value (<110 degrees) based on age. The deformity can be primarily caused by a congenital defect of the femoral neck cartilage or by secondary causes related to skeletal dysplasia, trauma, infection, and pathological bone disorders. The surgical treatment aims to restore the normal anatomy, thereby improving the mechanics and function of the hip joint. Generally, the HE angles should be corrected to <35 to 40 degrees, converting the shear forces into compressive forces. Our study aims to report the surgical outcome of coxa vara with various pathologies using radiographic measurement and functional scoring. METHODS: Thirty-eight hips in 28 patients who underwent surgery for treatment of coxa-vara from 2013 to 2022 were included. Radiographic parameters like Hilgenreiner-epiphyseal angle and neck-shaft angle were assessed preoperatively and at the latest follow-up. Harris hip score was used for functional outcome. RESULTS: The mean age was 11.13 (5 to 18). The average follow-up was 48 (ranging from 24 to 96) months. The mean preoperative neck-shaft angle was 82 degrees, and the Hilgenreiner-epiphyseal angle was 71 degrees. At the latest follow-up, the mean neck-shaft angle was 127 degrees, and the Hilgenreiner-epiphyseal angle was 33 ( P <0.001). The Harris hip score improved from 63 preoperatively to 92 at the latest follow-up ( P <0.001). There was no recurrence of deformities at the mean follow-up of 37.87 months. Four complications occurred with k-wire fixation in whom revalgus osteotomy was done. CONCLUSIONS: Surgical correction of coxa vara in various pathologies can be done successfully with the Hilgenreiner-epiphyseal angle corrected to ≤ 35 degrees or the neck shaft angle corrected to >110 degrees to prevent deformity recurrence. The majority of the patients reported improvement in hip function. However, a longer-term follow-up is required to determine further outcomes regarding the recurrence of the deformity.
Asunto(s)
Coxa Vara , Humanos , Niño , Masculino , Femenino , Preescolar , Adolescente , Resultado del Tratamiento , Coxa Vara/cirugía , Coxa Vara/diagnóstico por imagen , Radiografía/métodos , Articulación de la Cadera/cirugía , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/fisiopatología , Estudios de Seguimiento , Estudios Retrospectivos , Osteotomía/métodosRESUMEN
CASE: We describe the surgical management of a girl with dwarfism and congenital spondyloepiphyseal dysplasia, who presented in adolescence with coxa vara and bilateral pseudarthrosis between the femoral neck and the diaphysis, with asymmetric distal migration at both sites and leg length discrepancy. The patient at 16 years underwent valgus osteotomy in situ and femoral neck fixation in the left hip. The right hip was operated 19 months later. CONCLUSION: Hip dysplasia is common in spondyloepiphyseal dysplasia, but a debilitating nontraumatic bilateral pseudarthrosis at the base of the femoral neck has not been previously reported. Valgus corrective osteotomies of the femur in situ led to union and allowed the patient to walk.
Asunto(s)
Coxa Vara , Osteocondrodisplasias , Seudoartrosis , Femenino , Humanos , Adolescente , Cuello Femoral/cirugía , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/cirugía , Seudoartrosis/diagnóstico por imagen , Seudoartrosis/cirugía , Fémur/cirugía , Coxa Vara/diagnóstico por imagen , Coxa Vara/cirugíaRESUMEN
BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II. CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.
Asunto(s)
Artropatía Neurógena , Coxa Vara , Deformidades Congénitas de la Mano , Artropatías , Estenosis de la Válvula Mitral , Pericarditis , Sinovitis , Femenino , Humanos , Niño , Coxa Vara/complicaciones , Coxa Vara/diagnóstico , Coxa Vara/cirugía , Estenosis de la Válvula Mitral/complicaciones , Pericarditis/complicaciones , Disnea/complicacionesRESUMEN
INTRODUCTION: Complications following operative treatment of pediatric femoral neck fractures include nonunion, coxa vara, and avascular necrosis (AVN). Proximal femoral locking plates (PFLPs) provide a fixed-angle construct that may reduce the rates of coxa vara, but their use in pediatric femoral neck fractures has not been studied. The purpose of this study was to evaluate rates of union, coxa vara, and AVN in traumatic pediatric femoral neck fractures treated with PFLP or cannulated screws (CS). METHODS: We retrospectively reviewed all traumatic, nonpathologic Delbet II/III femoral neck fractures in patients below 18 years of age treated with PFLP or CS. All cases had ≥6 months of radiographic follow-up to evaluate for osseous union and AVN. Changes in proximal femoral alignment were determined by measuring injured and contralateral femoral neck-shaft angle and articulotrochanteric distance (ATD) between 6 and 12 months postoperatively. RESULTS: Forty-two patients were identified with mean age at surgery of 10.7±2.9 years (range 3.3 to 16.3 years) and mean follow-up of 36±27 months. Sixteen patients (38%) underwent PFLP fixation, whereas 26 patients (62%) underwent CS fixation. When compared with the CS cohort, the PFLP cohort had a greater proportion of males (87.5% vs. 50%, P =0.02) and Delbet III fractures (68.8% vs. 15.4%, P <0.001). There was no difference between PFLP and CS cohorts with respect to rates of union (81% vs. 88%, respectively, P =0.66), AVN (25% vs. 35%, respectively, P =0.73), or secondary surgery (62% vs 62%, P =0.95). There was no significant difference in neck-shaft angle between injured and contralateral hips in those patients treated with PFLP ( P =0.93) or CS ( P =0.16). However, the ATD was significantly decreased in hips treated with CS compared with the contralateral hip (18.4±4.6 vs. 23.3±4.2 mm, P =0.001), with no significant difference in the PFLP group ( P =0.57). CONCLUSIONS: This study suggests that the use of a PFLP in Delbet II/III femoral neck fractures does not appear to significantly increase nonunion rates or AVN and maintains anatomic ATD when compared with screw fixation. LEVEL OF EVIDENCE: Level III-therapeutic study.
Asunto(s)
Coxa Vara , Fracturas del Cuello Femoral , Osteonecrosis , Masculino , Humanos , Niño , Lactante , Estudios Retrospectivos , Fracturas del Cuello Femoral/cirugía , Placas Óseas , Fijación Interna de Fracturas/métodos , Cuello Femoral , Resultado del TratamientoRESUMEN
INTRODUCTION: Proximal femur simple bone cysts (SBCs) are rare in children, but with a risk of pathological fractures and the associated poor outcomes. This study aimed to evaluate the functional and radiographic outcomes of children with proximal femur SBCs. PATIENTS AND METHODS: 38 children with proximal femur SBCs treated surgically at our department, West China hospital, were enrolled in the study. Patients were divided into two groups according to whether pathological fractures presented before treatment. The non-fracture group received treatment of open curettage, cavity electrocauterization, bone grafting, and fixation (proximal femoral plate, intramedullary nail or Kirschner wire). The pathological fracture group received the same procedures of curettage, electrocauterization, grafting, and fixation. Autogenous iliac bone grafting was done in all cases, and the artificial bone was used as a supplementary based on the size of the cavity. Postoperatively, all patients underwent hip spica or similar orthosis immobilization for six weeks and received the same rehabilitation program after the removal of hip spica. Patients were evaluated by two independent observers, including the functional results based on the Ratliff's criteria, avascular necrosis, healing rate based on the Neer scoring system, coxa vara, and premature physeal arrest. We described the good outcome in Ratliff's criteria as "Satisfactory results", and fair and poor outcomes as "Unsatisfactory results." Grade 1 and grade 2 Neer results were termed as failures in treatment, and grades 3 and 4 were considered successes and healing. RESULTS: 38 patients with 38 hips (18 on the left side and 20 on the right side) were evaluated, including 9 females and 29 males, with a mean age of 9.0±2.6 years old (range, 5 to 14 years). There was no significant difference between these two groups in the baseline data of gender, age, side, grafting, staging, and fixation methods. The rate of unsatisfactory functional results in the pathological fractures group was 56.3% (9/16), significantly higher than that in patients without fracture (22.7%, 5/22. p= 0.047). There was also a significant difference in avascular necrosis of the femoral head between the pathological fractures group (7/16) and the group without fracture (2/22, p=0.021). Thirty cases presented with healing, including 13 in the fractures group and 17 in the non-fracture group (p=1.000), and eight cases were graded as failures (2 cases of grade 1 and 6 cases of grade 2). There were also no significant differences between these two groups in premature physeal arrest (2 in fracture group and 1 in non-fracture group, P=0.562), and Coxa vara (3 in the fracture group and 0 in non-fracture group, P=0.066). CONCLUSIONS: Pathological fracture significantly increases the risk of unsatisfactory functional results and avascular necrosis of the femoral head in patients with femoral neck SBCs. Prophylactic treatment and fixation of SBCs in weight bearing proximal femur region is better to manage without complications than managing with pathological fractures.
Asunto(s)
Quistes Óseos , Coxa Vara , Fracturas del Cuello Femoral , Necrosis de la Cabeza Femoral , Fracturas Óseas , Fracturas Espontáneas , Masculino , Niño , Femenino , Humanos , Fracturas Espontáneas/etiología , Necrosis de la Cabeza Femoral/diagnóstico por imagen , Necrosis de la Cabeza Femoral/etiología , Necrosis de la Cabeza Femoral/cirugía , Fracturas Óseas/complicaciones , Fémur/diagnóstico por imagen , Fémur/cirugía , Hilos Ortopédicos/efectos adversos , Quistes Óseos/complicaciones , Quistes Óseos/diagnóstico por imagen , Quistes Óseos/cirugía , Resultado del Tratamiento , Fijación Interna de Fracturas/efectos adversos , Estudios Retrospectivos , Fracturas del Cuello Femoral/cirugíaRESUMEN
This study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS). This study was conducted at the National Institutes of Health and Leiden University Medical Center. All patients with any subtype of FD/MAS, FD involving the proximal femur, one or more X-rays available and age <30 years were included. X-rays were scored for the neck-shaft angle (NSA). Varus deformity was defined as NSA <110 degrees or >10 degrees below age-specific values. Risk factors for deformity were assessed by nested case-control analysis, comparing patients and femurs with and without deformity, and by linear mixed effects model, modeling temporal NSA decrease (the natural course of the NSA) in non-operated femurs with two or more X-rays. Assessed variables included growth hormone excess, hyperthyroidism, hypophosphatemia, >25% of the femur affected, calcar destruction, radiolucency, and bilateral involvement. In total 180 patients were studied, 57% female. Mean ± SD baseline age was 13.6 ± 7.5 years; median follow-up 5.4 (interquartile range [IQR], 11.1) years. Sixty-three percent (63%) were diagnosed with MAS. A total of 94 patients were affected bilaterally; 274 FD femurs were analyzed; 99 femurs had a varus deformity (36%). In the nested case-control analysis, risk factors were as follows: presence of MAS (p < 0.001), hyperthyroidism (p < 0.001), hypophosphatemia (p < 0.001), high percentage of femur affected (p < 0.001), and calcar destruction (p < 0.001). The linear mixed effects model included 114 femurs, identified risk factors were: growth hormone excess (ß = 7.2, p = 0.013), hyperthyroidism (ß = 11.3, p < 0.001), >25% of the femur affected (ß = 13.2, p = 0.046), calcar destruction (ß = 8.3, p = 0.004), radiolucency (ß = 3.9, p = 0.009), and bilateral involvement (ß = 9.8, p = 0.010). Visual inspection of the graph of the model demonstrated most progression of deformity if NSA <120 degrees with age < 15 years. In conclusion, in tertiary care centers, the prevalence of FD/MAS coxa vara deformity was 36%. Risk factors included presence of MAS, high percentage of femur affected, calcar destruction, radiolucency, NSA <120 degrees and age < 15 years. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Asunto(s)
Coxa Vara , Displasia Fibrosa Ósea , Displasia Fibrosa Poliostótica , Hipertiroidismo , Hipofosfatemia , Humanos , Femenino , Adulto , Niño , Adolescente , Adulto Joven , Masculino , Displasia Fibrosa Poliostótica/complicaciones , Displasia Fibrosa Poliostótica/diagnóstico por imagen , Displasia Fibrosa Poliostótica/epidemiología , Prevalencia , Fémur/diagnóstico por imagenRESUMEN
BACKGROUND: The quality of reduction is an important factor affecting clinical outcomes for displaced femoral neck fractures (FNFs). However, concerns remain about the invasiveness of open reduction and internal fixation (ORIF) as compared to that of closed reduction and internal fixation (CRIF), and the choice between ORIF and CRIF as an optimal treatment strategy for displaced pediatric FNF remains controversial. MATERIALS AND METHODS: MEDLINE, Embase, and the Cochrane Library were systematically searched for studies published up to December 22, 2022, that compared ORIF and CRIF techniques for treating FNF in children. Pooled analysis identified differences in surgical outcomes between ORIF and CRIF, especially regarding postoperative complications, such as osteonecrosis of the femoral head (ONFH), nonunion, coxa vara deformity, leg-length discrepancy LLD, and premature physeal closure (PPC). RESULTS: We included 15 studies with 635 pediatric FNF cases in our review. Of these, 324 and 311 were treated with ORIF and CRIF, respectively. The pooled analysis revealed that no significant differences existed between each reduction technique for ONFH (odds ratio [OR] = 0.89; 95% confidence interval [CI] 0.51-1.56; P = 0.69), nonunion (OR = 0.51; 95% CI 0.18-1.47; P = 0.21), coxa vara deformity (OR = 0.58; 95% CI 0.20-1.72; P = 0.33), LLD (OR = 0.57; 95% CI 0.18-1.82; P = 0.35), and PPC (OR = 0.72; 95% CI 0.11-4.92; P = 0.74). CONCLUSIONS: Despite concerns about the invasiveness of ORIF, no differences in complications exist between ORIF and CRIF after FNF in children. Therefore, we believe that ORIF should be performed in FNF when the fracture is irreducible by closed manner.
Asunto(s)
Coxa Vara , Fracturas del Cuello Femoral , Procedimientos de Cirugía Plástica , Humanos , Niño , Coxa Vara/complicaciones , Coxa Vara/cirugía , Fijación Interna de Fracturas/efectos adversos , Fijación Interna de Fracturas/métodos , Fracturas del Cuello Femoral/cirugía , Fracturas del Cuello Femoral/complicaciones , Reducción Abierta , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan. CASE PRESENTATION: Herein, we report two siblings presented with chronic polyarthritis, had a prior diagnosis of juvenile idiopathic arthritis, but was subsequently diagnosed as CACP syndrome with novel mutation in the PRG4 gene. CONCLUSION: Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.
Asunto(s)
Artritis Juvenil , Contractura , Coxa Vara , Artropatías , Proteoglicanos , Femenino , Humanos , Artritis Juvenil/genética , Contractura/genética , Coxa Vara/diagnóstico por imagen , Coxa Vara/genética , Artropatías/genética , Mutación/genética , Proteoglicanos/genética , HermanosAsunto(s)
Artropatía Neurógena , Coxa Vara , Proteoglicanos , Humanos , Coxa Vara/genética , Mutación , Proteoglicanos/genéticaRESUMEN
PURPOSE OF THE STUDY This paper aims to detect, through a retrospective study, the migration of the tips of used metal implants (K-wires or a screw) in the direction out from the proximal femoral epiphysis as a part of studied basic radiometric characteristics of the cohort, with no intention of the authors to evaluate the therapy outcomes. MATERIAL AND METHODS It was a retrospective multicentre study including patients of two orthopaedic clinics and one department of orthopaedics treated in the period 2005-2018. The same treatment procedure was used in all three centres. The "in situ" fixation was indicated in patients, in whom the Southwick angle in anteroposterior and Lauenstein views was not much greater than 30°, whether primarily due to a mild slip or thanks to careful reduction either in acute or acute-on-chronic forms. All X-rays were measured by a single author (M.S.). In AP and Lauenstein view, overlap of the implant tip (K-wire or a screw) above the subcapital growth plate, the height of epiphysis and Southwick angle are measured at the beginning and at the end of treatment. In a smaller group of patients, also the inter-observer error (M.S. and J.P.) was identified. RESULTS K-wire transfixation was used in 43 patients (50 joints), with the mean age of 11.7 years and the mean duration of transfixation of 18.2 months. The slip of the implant tip out of the head, assessed separately for each introduced K-wire and then averaged, was in both views considered statistically significant (in AP view the level of significance was 5% (p-value = 1.393 x 10^(-6) < 0.05) , in Lauenstein view the level of significance was also 5% (p-value = 0.0001652 < 0.05)). The Wilcoxon signed rank test with continuity correction was used. Transfixation by screw alternatively with one K-wire was used in 23 patients (28 joints), with the mean age of 12.4 years and the mean duration of transfixation of 14.4 months. The slip of the screw tip outside the head was assessed as significant (in AP view at the level of significance of 5% (p-value = 9.41 x 10^(-5) < 0.05), in Lauenstein view at the level of significance of 5% (p-value = 0.003557 < 0.05)). The Wilcoxon signed rank test with continuity correction was used. DISCUSSION This paper aims to detect, through a retrospective study, the so-called migration of the tips of used metal implants (K-wires or a screw) outside the femoral head. Smooth and thin implants such as Kirschner wires should not compromise the continuing growth from subcapital growth plate contrary to the AO screw with threads in the femoral head, the screw head rested against the lateral cortical bone and the screw inserted as a compression one. Nonetheless, with some exceptions, the literature confirms the continued growth of the femoral neck even in the case of screws. In general, implants that do not compromise femoral neck growth provide an opportunity to remodel the anterolateral prominence of the femoral metaphysis, especially in younger patients. In agreement with other authors, the data from our study confirmed, even after a short period of time, a certain degree of proximal femoral remodelling expressed by changes in the Southwick angle. CONCLUSIONS Our study confirmed that in the case of "smooth" K-wires as well as cannulated screws the tips of both implants migrate outside the head. The differences were statistically significant. Therefore, the introduction of a conventional cannulated screw cannot be claimed to immediately produce the effect of epiphyseodesis. Yet, smooth implants less compromise the growth of the femoral neck, which is why they have recently been preferred. Key words: coxa vara adolescentium, metal implants, migration.
Asunto(s)
Coxa Vara , Epífisis Desprendida de Cabeza Femoral , Niño , Cabeza Femoral/cirugía , Cuello Femoral/cirugía , Humanos , Estudios Retrospectivos , Epífisis Desprendida de Cabeza Femoral/cirugíaRESUMEN
The rare case of a 5year-old girl with autosomal dominant osteopetrosis type 2, who suffered metaphyseal fractures of the femoral neck on both sides within 6 months is described. On the right side, the diagnosis was made 3 months after the onset of symptoms, so that a coxa vara occurred. The treatment was surgically treated through a valgus osteotomy with fixation of the femoral head with Kwires. Three months after the operation, the girl complained of a painful restriction of movement on her left side. Radiologically, a metaphyseal femoral neck fracture without coxa vara was diagnosed and in situ fixated with 2 K wires. Two months after the second operation, there was a symmetrical free range of motion of the hips with no symptoms. The metaphyseal femoral neck fracture with verticalization of the growth plate is a serious disease in autosomal dominant osteopetrosis due to the development of a coxa vara, which, if diagnosed at an early stage, can be treated well with in situ fixation. If the coxa vara has already developed, a valgus osteotomy should be performed despite the risk of delayed bone healing.
Asunto(s)
Coxa Vara , Fracturas del Cuello Femoral , Osteopetrosis , Preescolar , Coxa Vara/diagnóstico por imagen , Femenino , Fracturas del Cuello Femoral/diagnóstico por imagen , Cuello Femoral/cirugía , Humanos , Osteopetrosis/complicaciones , OsteotomíaRESUMEN
Treatment of femoral neck fractures secondary to osteopetrosis is an uncertain and puzzled decision. Experience in the treatment, especially in the pediatric population, is scarcely reported. The duration of conservative treatment is prolonged and poses the risks of non-union and development of coxa vara deformity. The recommended treatment is closed reduction and internal fixation; however, surgery on osteopetrotic bone is challenging due to defective bone marrow function, delayed consolidation and higher risk of intraoperative fractures. Slipped capital femoral epiphysis secondary to osteopetrosis is very rarely reported. This article presents the case of a 5-year-old female patient with rapidly deteriorating physical function due to bilateral proximal femoral Salter-Harris type II fractures with associated slippage of the growth plates secondary to confirmed autosomal recessive osteopetrosis. Operative treatment was performed in a tertiary level orthopedic center with closed reduction and internal fixation with cannulated screws. A loss of fixation with coxa vara deformity was seen on the left side 7 months postoperatively with increasing pain. A revision surgery with reosteosynthesis and a valgus osteotomy was thus performed which showed good subjective and objective results 1 year postoperatively with complete bony union.
Asunto(s)
Coxa Vara , Fracturas del Cuello Femoral , Osteopetrosis , Epífisis Desprendida de Cabeza Femoral , Niño , Preescolar , Femenino , Humanos , Coxa Vara/diagnóstico por imagen , Fracturas del Cuello Femoral/diagnóstico por imagen , Fijación Interna de Fracturas/métodos , Osteopetrosis/complicaciones , Epífisis Desprendida de Cabeza Femoral/diagnóstico por imagenRESUMEN
BACKGROUND: Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood. The term JIA encompasses a heterogenous group of diseases. The variability in phenotype of patients affected by the disease means it is not uncommon for mimics of JIA to be misdiagnosed. CASE PRESENTATION: We present four cases who were treated in single tertiary rheumatology centre for JIA who were subsequently diagnosed with a rare monogenic disease. All four patients shared the unifying features of presenting in early childhood and subsequently suffered with refractory disease, not amenable to usual standards of treatment. Multicentric Carpotarsal Osteolysis Syndrome and Camptodactyly-arthropathy-coxa vara-pericarditis syndrome are non-inflammatory conditions and patients typically present with arthropathy, normal inflammatory markers and atypical radiological features. Blau syndrome is an autosomal dominant condition and patients will typically have symmetrical joint involvement with a strong family history of arthritis, signifying the genetic aetiology. CONCLUSIONS: We share our learning from these cases to add to the growing portfolio of JIA mimics and to highlight when to consider an alternative diagnosis. In cases of refractory disease and diagnostic uncertainty further imaging and genetic testing can play a crucial role in establishing the aetiology. In all of these cases the correct diagnosis was made due to careful, longitudinal clinical phenotyping and a close working relationship between rheumatology, radiology and clinical genetics; highlighting the importance of the multidisciplinary team in managing complex patients.
Asunto(s)
Artritis Juvenil , Artropatía Neurógena , Coxa Vara , Artropatías , Sinovitis , Artritis Juvenil/diagnóstico , Artritis Juvenil/genética , Artropatía Neurógena/genética , Preescolar , Coxa Vara/genética , Humanos , Sinovitis/genéticaRESUMEN
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended to preserve hip function and delay progression to osteoarthritis. Surgery is difficult due to the three-dimensional deformity, unossified femoral head, and small patient size. In this case, a patient-specific surgical plan and implant sizing was developed using a composite 3D reconstruction from computed tomography (CT) and magnetic resonance imaging (MRI). The complementary use of both modalities allowed for a complete visualization of the patient's dysplastic femoral head & neck anatomy.
Asunto(s)
Coxa Vara , Osteocondrodisplasias , Niño , Coxa Vara/cirugía , Humanos , Imagenología Tridimensional , Osteocondrodisplasias/congénito , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Osteocondrodisplasias/cirugía , Osteotomía/métodosRESUMEN
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome leads to diarthrodial joint arthropathy and is caused by the absence of lubricin (proteoglycan 4-PRG4), a surface-active mucinous glycoprotein responsible for lubricating articular cartilage. In this study, mice lacking the orthologous gene Prg4 served as a model that recapitulates the destructive arthrosis that involves biofouling of cartilage by serum proteins in lieu of Prg4. This study hypothesized that Prg4-deficient mice would demonstrate a quadruped gait change and decreased markers of mitochondrial dyscrasia, following intra-articular injection of both hindlimbs with recombinant human PRG4 (rhPRG4). Prg4-/- (N = 44) mice of both sexes were injected with rhPRG4 and gait alterations were studied at post-injection day 3 and 6, before joints were harvested for immunohistochemistry for caspase-3 activation. Increased stance and propulsion was shown at 3 days post-injection in male mice. There were significantly fewer caspase-3-positive chondrocytes in tibiofemoral cartilage from rhPRG4-injected mice. The mitochondrial gene Mt-tn, and myosin heavy (Myh7) and light chains (Myl2 and Myl3), known to play a cytoskeletal stabilizing role, were significantly upregulated in both sexes (RNA-Seq) following IA rhPRG4. Chondrocyte mitochondrial dyscrasias attributable to the arthrosis in CACP may be mitigated by IA rhPRG4. In a supporting in vitro crystal microbalance experiment, molecular fouling by albumin did not block the surface activity of rhPRG4.
Asunto(s)
Cartílago Articular , Artropatías , Osteoartritis , Animales , Artropatía Neurógena , Cartílago Articular/metabolismo , Caspasa 3 , Coxa Vara , Femenino , Marcha , Deformidades Congénitas de la Mano , Inyecciones Intraarticulares , Masculino , Ratones , Ratones Noqueados , Proteoglicanos/metabolismo , SinovitisRESUMEN
Skeletal adaptation is substantially influenced by mechanical loads. Osteocytes and their lacuno-canalicular network have been identified as a key player in load sensation and bone quality regulation. In the femoral neck, one of the most common fracture sites, a complex loading pattern with lower habitual loading in the superolateral neck and higher compressive stresses in the inferomedial neck is present. Variations in the femoral neck-shaft angle (NSA), i.e., coxa vara or coxa valga, provide the opportunity to examine the influence of loading patterns on bone quality. We obtained femoral neck specimens of 28 osteoarthritic human subjects with coxa vara, coxa norma and coxa valga during total hip arthroplasty. Bone mineral density (BMD) was assessed preoperatively by dual energy X-ray absorptiometry (DXA). Cortical and trabecular microstructure and three-dimensional osteocyte lacunar characteristics were assessed in the superolateral and inferomedial neck using ex vivo high resolution micro-computed tomography. Additionally, BMD distribution and osteocyte lacunar characteristics were analyzed by quantitative backscattered electron imaging (qBEI). All groups presented thicker inferomedial than superolateral cortices. Furthermore, the superolateral site exhibited a lower osteocyte lacunar density along with lower lacunar sphericity than the inferomedial site, independent of NSA. Importantly, BMD and corresponding T-scores correlated with microstructural parameters at the inferomedial but not superolateral neck. In conclusion, we provide micromorphological evidence for fracture vulnerability of the superolateral neck, which is independent of NSA and BMD. The presented bone qualitative data provide an explanation why DXA may be insufficient to predict a substantial proportion of femoral neck fractures. STATEMENT OF SIGNIFICANCE: The femoral neck, one of the most common fracture sites, is subject to a complex loading pattern. Site-specific differences (i.e., superolateral vs. inferomedial) in bone quality influence fracture risk, but it is unclear how this relates to hip geometry and bone mineral density (BMD) measurements in vivo. Here, we examine femoral neck specimens using a variety of high-resolution imaging techniques and demonstrate impaired bone quality in the superolateral compared to the inferomedial neck. Specifically, we found impaired cortical and trabecular microarchitecture, mineralization, and osteocyte properties, regardless of neck-shaft angle. Since BMD correlated with bone quality of the inferomedial but not the superolateral neck, our results illustrate why bone densitometry may not predict a substantial proportion of femoral neck fractures.
Asunto(s)
Coxa Valga , Coxa Vara , Fracturas del Cuello Femoral , Densidad Ósea/fisiología , Cuello Femoral/diagnóstico por imagen , Cadera , Humanos , Microtomografía por Rayos XRESUMEN
OBJECTIVE: Pediatric proximal femur fracture is extremely rare trauma comparing to other fractures. The proximal femur fracture is 1% of all pediatric fractures. The aim of current study is to compare the incidence of early complications and outcomes of pediatric proximal femur fractures regarding fracture types retrospectively. DESIGN: Our study includes 35 cases which are criticized by Delbet classification system, modalities of treatment, duration of waiting for surgery, duration of follow-up and also complications. Our inclusion criteria are age below 16 years old, proximal femur fractures with no evidence of tumoral, romathologic and methabolic conditions. Age, sex and surgery type (open-closed) were noted, and the data were statistically assessed. Assessment of the final outcome was made at the last follow-up visit using the Ratliff's method. RESULTS: The mean of age of patients in our study is 9.5 ± 5.06 years. The average follow-up was 25.6 ± 13.2 months. 15 patients (42.9%) are type 2 Delbet fracture, 5 patients (14.2%) are Delbet type 3 and 15 patients (42.9%) are Delbet type 4 fracture. Using the Ratliff's method, 25 patients (71.4%) had satisfactory outcomes. Ten patients (28.6%) had unsatisfactory outcomes. The complications as AVN, coxa vara and premature closure of physis, non-union and postoperative infections have been detected in this study. AVN was seen in four (11.4%) patients. In addition, coxa vara was seen in six (17.2%) patients. CONCLUSION: Pediatric femoral neck fractures are extremely rare fractures and can be treated with low complication rates in cases with early treatment and anatomic reduction.
Asunto(s)
Coxa Vara , Fracturas del Fémur , Fracturas del Cuello Femoral , Adolescente , Niño , Preescolar , Fracturas del Fémur/complicaciones , Fracturas del Fémur/cirugía , Fracturas del Cuello Femoral/complicaciones , Fijación Interna de Fracturas/efectos adversos , Fijación Interna de Fracturas/métodos , Humanos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Neck of femur fractures have often been termed as "The Unsolved Fractures", since they have a guarded outcome even after improved understanding of biomechanics and biology of this area. Gap-nonunion is one such dreaded complication of this fracture, especially in younger (<60 years) population, where arthroplasty may not be the best go-to option. We have earlier described "The AIIMS BOX" technique to manage such cases of gap non-union in neglected neck femur fractures [1]. Here we intend to describe a more successful modification of this technique. We operated 7 cases of gap non-union with our new "Cage in Box" strategy and followed these cases for 5 years. 6 patients from this group achieved excellent to good outcomes and only 1 reported a poor outcome. All the patients, except the one with poor outcome, could walk without aid and do activities of daily living independently. 3 patients developed AVN but had no evidence of collapse. 3 patients also developed Coxa vara, but it was significant only in one case. 6/7 patients were able to squat. We describe this method in detail and feel this can be a viable option in the armamentarium of orthopedic surgeons, along with valgus osteotomy, vascularized and non-vascularized fibular strut graft as well as Meyer's Graft, to help them solve this unsolved fracture.
Asunto(s)
Coxa Vara , Fracturas del Cuello Femoral , Fracturas no Consolidadas , Actividades Cotidianas , Fracturas del Cuello Femoral/complicaciones , Fracturas del Cuello Femoral/diagnóstico por imagen , Fracturas del Cuello Femoral/cirugía , Peroné/trasplante , Fracturas no Consolidadas/complicaciones , Fracturas no Consolidadas/diagnóstico por imagen , Fracturas no Consolidadas/cirugía , Humanos , Osteotomía/métodos , Resultado del TratamientoRESUMEN
BACKGROUND: Old femoral neck fracture (OFNF) generally refers to fractures for more than 3 weeks. Corticoperiosteal pedicle flap of greater trochanter (CPPF-GT) was designed to restore blood supply and donor bone for OFNF. This study aimed to assess the efficacy and radiographic results of CPPF-GT for treatment of OFNF in children after a minimum 5 years follow-up. METHODS: Twenty-three patients with OFNFs, age from 8 to 16 years old, who underwent open reductions, fracture fixations, and transpositions of CPPF-GTs were retrospectively reviewed. Clinical and radiological outcomes, including union, nonunion, avascular necrosis of femoral head, limb shortening, coxa vara, premature epiphyseal closure and Ratliff's assessment, were investigated in the postoperative follow-up. The results were compared with previously published joint-salvage study of OFNFs. RESULTS: All patients were followed for an average of 5.9 years (range: 5 to 10 years). All cases (100%) achieved hip unions at an average duration of 3.5 months (range: 2.5 to 5 months). No nonunion hip was observed. Three hips (13.0%) progressed to avascular necrosis of femoral head after 1.5 to 3 years of operation, respectively, and the revision surgeries to hip replacements were conducted. Premature epiphyseal closures were observed in 3 hips. Three hips visibly presented an average 2 cm shortening of the femoral neck. Coxa vara deformities were observed in 2 hips. According to the Ratliff's criteria, there were 20 cases (87.0%) with satisfactory union, good results were achieved in 17 cases, fair results in 3 cases, and poor result in 3 cases. CONCLUSIONS: Corticoperiosteal pedicle flap of greater trochanter is an effective and desirable option for treating old femoral neck fractures in children with a low rate of avascular necrosis and without nonunion. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.