Aims. Though the pathogenesis of Legg-Calve-Perthes disease (LCPD) is unknown, repetitive microtrauma resulting in deformity has been postulated. The purpose of this study is to trial a novel upright MRI scanner, to determine whether any deformation occurs in femoral heads affected by LCPD with weightbearing. Methods. Children affected by LCPD were recruited for analysis. Children received both standing weightbearing and supine scans in the MROpen upright MRI scanner, for coronal T1 GFE sequences, both hips in field of view. Parameters of femoral head height, width, and lateral extrusion of affected and unaffected hips were assessed by two independent raters, repeated at a one month interval. Inter- and intraclass correlation coefficients were determined. Standing and supine measurements were compared for each femoral head. Results. Following rigorous protocol development in healthy age-matched volunteers, successful scanning was performed in 11 LCPD-affected hips in nine children, with seven unaffected hips therefore available for comparison. Five hips were in early stage (1 and 2) and six were in late stage (3 and 4). The mean age was 5.3 years. All hips in early-stage LCPD demonstrated dynamic deformity on weightbearing. Femoral head height decreased (mean 1.2 mm, 12.4% decrease), width increased (mean 2.5 mm, 7.2% increase), and lateral extrusion increased (median 2.5 mm, 23% increase) on standing weightbearing MRI compared to supine scans. Negligible deformation was observed in contra-lateral unaffected hips, with less deformation observed in late-stage hips. Inter- and intraclass reliability for all measured parameters was good to excellent. Conclusion. This pilot study has described an effective novel research investigation for children with LCPD. Femoral heads in early-stage LCPD demonstrated dynamic deformity on weightbearing not previously seen, while unaffected hips did not. Expansion of this protocol will allow further translational study into the effects of loading hips with LCPD. Cite this article: Bone Joint Open 2020;1-7:364–369

Aims

The aim of this study was to compare outcomes of guided growth and varus osteotomy in treating Kalamchi type II avascular necrosis (AVN) after open reduction and Pemberton acetabuloplasty for developmental dysplasia of the hip (DDH).

Background. Unicameral bone cysts (UBCs) are difficult to treat and have a high recurrence rate. Their pathogenesis is unknown making targeted therapies difficult. Attributed causes include venous and interstitial fluid obstruction, oxygen free radicals, lysosomal enzymes, prostaglandins and genetic factors. Skeletal stem cells (SSCs) are osteoblast precursors critical to bone formation and cyst fluid may influence their growth, however the association between SSCs and cyst fluid has never been investigated. Aim. To investigate the effect of UBC fluid on SSC growth. Methods. Fluid was aspirated from a UBC in the proximal femur of a nine year old boy and centrifuged to isolate the acellular supernatant. SSCs were harvested from bone marrow of a haematologically normal adult and cultured with graded concentrations of cyst fluid in culture media (0,10,25,50%). Cell growth was assessed by alkaline phosphatase staining, and cytokine levels in the fluid were measured. Results. High levels of cytokines known to be chemo-attractive for cells of the of macrophage-monocyte lineage were found, including Macrophage Chemotactic Protein-1 (1853pg/ml), Monokine Induced by γ-interferon (656pg/ml), Macrophage Inflammatory Protein (MIP)-1α (401pg/ml) and MIP-1β (34pg/ml) suggesting a role of osteoclasts in UBC pathogenesis. Furthermore, SSC growth in vitro was reduced in cyst fluid in a concentration dependent manner. Conclusion. This is the first time altered SSC and osteoprogenitor function has been associated with the fluid of a UBC. A negative effect on osteogenesis was demonstrated, the precise mechanisms of which are under investigation, and macrophage-monocyte chemokines suggest high osteoclast activity. This study has indicated a role of the cyst fluid in limiting osteogenesis and bone turnover, which may explain the high failure rate for current interventions. More patients are needed to validate these findings

Perthes’ disease is an osteonecrosis of the juvenile hip, the aetiology of which is unknown. A number of comorbid associations have been suggested that may offer insights into aetiology, yet the strength and validity of these are unclear. This study explored such associations through a case control study using the United Kingdom General Practice Research database. Associations investigated were those previously suggested within the literature. A total of 619 cases of Perthes’ disease were included, as were 2544 controls. The risk of Perthes’ disease was significantly increased with the presence of congenital anomalies of the genitourinary and inguinal region, such as hypospadias (odds ratio (OR) 4.04 (95% confidence interval (CI) 1.41 to 11.58)), undescended testis (OR 1.83 (95% CI 1.12 to 3.00)) and inguinal herniae (OR 1.79 (95% CI 1.02 to 3.16)). Attention deficit hyperactivity disorder was not associated with Perthes’ disease (OR 1.01 (95% CI 0.48 to 2.12)), although a generalised behavioural disorder was (OR 1.55 (95% CI 1.10 to 2.17)). Asthma significantly increased the risk of Perthes’ disease (OR 1.44 (95% CI 1.17 to 1.76)), which remained after adjusting for oral/parenteral steroid use. Perthes’ disease has a significant association with congenital genitourinary and inguinal anomalies, suggesting that intra-uterine factors may be critical to causation. Other comorbid associations may offer insight to support or refute theories of pathogenesis

The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes’ disease is controversial. The clinical and radiological findings of Perthes’ disease may be indistinguishable from those of Gaucher’s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes’ disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes’ disease. Genomic DNA of 119 children with radiologically-confirmed Perthes’ disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes’ disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G> A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes’ disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes’ disease. All 199 patients were negative for the studied COL2A1 mutations. We found no genetic association between Perthes’ disease and either Gaucher’s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes’ disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear

Introduction. We report 3 cases from different centres of infantile tibia vara in which the deformity was due to slippage of the proximal tibial epiphysis on the metaphysis; the aim of this study was to define the features of this previously unreported condition, and their implications for management. Method. Three cases of tibia vara secondary to atraumatic slippage of the upper tibial epiphysis on the metaphysis were identified from three different centres. The case notes and imaging studies were retrospectively reviewed to distinguish common clinical and radiographic features. Results. There were one male and two females, all of non-Caucasian origin, (age 3–7 years). All patients' weights were above the 97th centile for age. In all cases there was an infero-medial subluxation of the tibial epiphysis over a dome shaped proximal tibial metaphysis, with disruption of continuity between their lateral borders. The height of the medial tibial plateau was preserved in all cases. New bone formation suggests this is a chronic process. The evolution of one case indicates that pathogenesis is shared with infantile Blount's disease. A gradual deformity correction was performed in all cases using circular external fixation, with the proximal ring secured to both the proximal epiphysis and metaphysis. Conclusion. Slipped upper tibial epiphysis is an uncommon but distinct cause of tibia vara. The radiological features are completely different from those previously described for infantile tibia vara and not encompassed by the existing classification. The unusual morphology has consequences for treatment. Management is analogous to a slipped upper femoral epiphysis – the physis has to be stabilized to the metaphysis and an osteotomy performed to restore the mechanical axis. We believe this is best achieved with a circular external fixator because this permits multiaxial correction including translation and rotation

We investigated the pathogenesis of soft-tissue contracture in club foot, using immunohistochemistry to study 41 biopsy specimens and 12 normal deltoid ligaments from cadavers. Five biopsy specimens were studied by electron microscopy (EM) to determine the presence of myofibroblasts. All 41 specimens of club foot stained positively for vimentin as against only one of the 12 control specimens. By contrast, there was no difference in staining for desmin or α-smooth muscle actin. EM showed some variability in the appearance of ligamentous cells. Most contained bundles of microfilaments in the cytoplasm and many had abundant pinocytotic vesicles, but no basal lamina or plasmalemmal attachment plaques. Cells of the medial ligamentous tissue in patients with club foot contain vimentin and others have myofibroblastic characteristics. Both features may contribute to recurrence after soft-tissue release

Aims

To explore the of age of onset distribution for Perthes’ disease of the hip, with particular reference to gender, laterality and conformity to the lognormal distribution.

We compared the accuracy of the growth remaining method of assessing leg-length discrepancy (LLD) with the straight-line graph method, the multiplier method and their variants. We retrospectively reviewed the records of 44 patients treated by percutaneous epiphysiodesis for LLD. All were followed up until maturity. We used the modified Green–Anderson growth-remaining method (Method 1) to plan the timing of epiphysiodesis. Then we presumed that the other four methods described below were used pre-operatively for calculating the timing of epiphysiodesis. We then assumed that these four methods were used pre-operatively. Method 2 was the original Green–Anderson growth-remaining method; Method 3, Paley’s multiplier method using bone age; Method 4, Paley’s multiplier method using chronological age; and Method 5, Moseley’s straight-line graph method. We compared ‘Expected LLD at maturity with surgery’ with ‘Final LLD at maturity with surgery’ for each method. Statistical analysis revealed that ‘Expected LLD at maturity with surgery’ was significantly different from ‘Final LLD at maturity with surgery’. Method 2 was the most accurate. There was a significant correlation between ‘Expected LLD at maturity with surgery’ and ‘Final LLD at maturity with surgery’, the greatest correlation being with Method 2. Generally all the methods generated an overcorrected value. No method generates the precise ‘Expected LLD at maturity with surgery’. It is essential that an analysis of the pattern of growth is taken into account when predicting final LLD. As many additional data as possible are required.

Cite this article: Bone Joint J 2013;95-B:993–1000.

We describe three cases of infantile tibia vara resulting from an atraumatic slip of the proximal tibial epiphysis upon the metaphysis. There appears to be an association between this condition and severe obesity. Radiologically, the condition is characterised by a dome-shaped metaphysis, an open growth plate and disruption of the continuity between the lateral borders of the epiphysis and metaphysis, with inferomedial translation of the proximal tibial epiphysis. All patients were treated by realignment of the proximal tibia by distraction osteogenesis with an external circulator fixator, and it is suggested that this is the optimal method for correction of this complex deformity. There are differences in the radiological features and management between conventional infantile Blount’s disease and this ‘slipped upper tibial epiphysis’ variant.

Septicaemia resulting from meningococcal infection is a devastating illness affecting children. Those who survive can develop late orthopaedic sequelae from growth plate arrests, with resultant complex deformities. Our aim in this study was to review the case histories of a series of patients with late orthopaedic sequelae, all treated by the senior author (CFB). We also describe a treatment strategy to address the multiple deformities that may occur in these patients.

Between 1997 and 2009, ten patients (seven girls and three boys) were treated for late orthopaedic sequelae following meningococcal septicaemia. All had involvement of the lower limbs, and one also had involvement of the upper limbs. Each patient had a median of three operations (one to nine). Methods of treatment included a combination of angular deformity correction, limb lengthening and epiphysiodesis. All patients were skeletally mature at the final follow-up. One patient with bilateral below-knee amputations had satisfactory correction of her right amputation stump deformity, and has complete ablation of both her proximal tibial growth plates. In eight patients length discrepancy in the lower limb was corrected to within 1 cm, with normalisation of the mechanical axis of the lower limb.

Meningococcal septicaemia can lead to late orthopaedic sequelae due to growth plate arrests. Central growth plate arrests lead to limb-length discrepancy and the need for lengthening procedures, and peripheral growth plate arrests lead to angular deformities requiring corrective osteotomies and ablation of the damaged physis. In addition, limb amputations may be necessary and there may be altered growth of the stump requiring further surgery. Long-term follow-up of these patients is essential to recognise and treat any recurrence of deformity.

Between June 2001 and November 2008 a modified Dunn osteotomy with a surgical hip dislocation was performed in 30 hips in 28 patients with slipped capital femoral epiphysis. Complications and clinical and radiological outcomes after a mean follow-up of 3.8 years (1.0 to 8.5) were documented. Subjective outcome was assessed using the Harris hip score and the Western Ontario and McMaster Universities osteoarthritis index questionnaire.

Anatomical or near-anatomical reduction was achieved in all cases. The epiphysis in one hip showed no perfusion intra-operatively and developed avascular necrosis. There was an excellent outcome in 28 hips. Failure of the implants with a need for revision surgery occurred in four hips.

Anatomical reduction can be achieved by this technique, with a low risk of avascular necrosis. Cautious follow-up is necessary in order to avoid implant failure.