[Constitutional diseases of bone: clinical flags]. / Quand penser à une maladie osseuse constitutionnelle ?

Constitutional diseases of bone form a heterogeneous group of rare diseases of varied phenotypic presentations with a vast genetic heterogeneity. Detected mostly in childhood, they may also be diagnosed in adulthood. Medical history, clinical examination as well as biological and radiological investigations may lead to the diagnosis, which should be confirmed genetically. Joint limitations, early osteoarthritis, hip dysplasia, bone deformity, enthesopathies, bone fragility or a small height can be warning signs of a constitutional disease of bone. Establishing the diagnosis is crucial to enable optimal medical management with a specialized multidisciplinary team.

Les maladies osseuses constitutionnelles constituent un groupe hétérogène de maladies rares de présentations phénotypiques variées et d'une grande hétérogénéité génétique. Le plus souvent détectées dans l'enfance, elles peuvent également être diagnostiquées à l'âge adulte. L'anamnèse, l'examen clinique et les bilans biologiques et radiologiques permettent d'orienter le diagnostic, qui devra être confirmé par une analyse génétique. Les limitations articulaires, l'arthrose précoce, les dysplasies de hanches, les déformations osseuses, les enthésopathies ou la fragilité osseuse ainsi qu'une petite taille sont des signes d'alerte pour rechercher une maladie osseuse constitutionnelle. Établir le diagnostic est crucial pour permettre une prise en charge optimale, multidisciplinaire et spécialisée.

A 10.5-year follow-up of walking with unilateral spastic cerebral palsy.

Purpose: The purpose of this study was to describe gait evolution in patients with unilateral spastic cerebral palsy (USCP) using modified Gait Profile Score (mGPS without hip rotation), Gait Variable Score (GVS), walking speed, and the observed effects of single-level surgery (SLS) after 10 years. Methods: Fifty-two patients with USCP (Gross Motor Function Classification System I) and data from two Clinical Gait Analyses (CGAs) were included. The evolution of patients' mGPS, GVS, and walking speed were calculated. Two "no surgery" and "single-level surgery" patient categories were analyzed. Paired t-tests were used to compare the data between CGAs and as a function of treatment category. Pearson's correlations were used to examine relationships between baseline values and evolutions in mGPS and walking speed. Results: Mean ages (SD) at first and last CGAs were 9.3 (3.2) and 19.7 (6.0) years old, respectively, with an average follow-up of 10.5 (5.6) years. Mean mGPS for the patients' affected side was significantly lower at the last CGA for the full cohort: baseline = 8.5° (2.1) versus follow-up = 7.2° (1.6), effect size = 0.73, p < 0.001. Significant improvements in mGPS and GVS for ankle and foot progression were found for the SLS group. The mGPS change and mGPS at baseline (r = -0.79, p < 0.001) were negatively correlated. Conclusions: SLS patients demonstrated a positive long-term change in gait pattern over time. The group that had undergone surgery had worse gait scores at baseline than the group that had not, but the SLS group's last CGA scores were relatively closer to those of the "no surgery" group. Level of evidence: This was a retrospective comparative therapeutic study (level III).

Diagnostic Utility of Synovial Fluid Cell Counts and CRP in Pediatric Knee Arthritis: A 10-Year Monocentric, Retrospective Study.

BACKGROUND: Orthopedic surgeons often use the intra-articular white blood counts (WBCs) and the percentage of polymorphonuclear cells (PMN) in the diagnosis of an acute swollen and painful knee joint in children. Today, there is no established threshold for the synovial WBC, and their differentiation, as indicative of native joint knee bacterial arthritis. We determine the sensitivity and specificity of synovial WBCs and PMN percentages in the prediction of a community-acquired, acute bacterial native joint septic arthritis (SA) in the pediatric population. METHODS: A retrospective study on healthy children 0-16 years of age who underwent knee joint aspiration for a community-acquired, acute irritable knee effusion in our tertiary-care children's hospital between May 2009 and April 2019 was conducted. We divided the study population into two groups according to the detection of bacterial arthritis in the synovial fluid (bacterial arthritis versus its absence) and compared the intra-articular leukocyte and C-reactive protein (CRP) levels. RESULTS: Overall, we found a statistically significant difference regarding the total CRP (p = 0.017), leukocyte or PMN counts (p ≤ 0.001 in favor of a bacterial arthritis). In contrast, the percentage of the neutrophils was not determinant for the later confirmation of bacterial pathogens, and we were unable to establish diagnostically determining minimal thresholds of the intra-articular CRP and leukocyte levels. CONCLUSIONS: This pilot study suggests that either the leukocyte or PMN counts may be associated with a bacterial origin of knee arthritis in children. We plan a larger prospective interventional study in the future to confirm these findings including the investigation of other joint aspirate biomarkers.

When to Suspect DRUJ's Instability in Children? Case Report of a Rare Presentation of Distal Forearm Fractures.

Pediatric displaced distal metaphyseal ulnar fractures and distal radial buckle fractures are common. However, to the best of our knowledge, their association has never been specifically reported. Thus, classification and management of this pattern remain challenging especially in young children. Distal radioulnar joint (DRUJ)'s assessment is difficult. A Galeazzi-equivalent injury should be suspected. We report the case of a 2-year-old boy who presented the above-mentioned association of forearm fractures and compare our management with actual recommendations. We would recommend a low-suspicion threshold for DRUJ's instability in young children presenting with displaced distal metaphyseal ulnar fracture associated with distal radial buckle fracture. That suspicion should raise the necessity of appropriate treatment and follow-up.

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.

BACKGROUND: This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we aim at fulfilling three main goals: offering thorough coordinated management for all, and improving physical activity and quality of life of the patients. AIM: With rare diseases such as osteogenesis imperfecta (OI), patients and their family often suffer from inadequate recognition of their disease, poor care coordination and incomplete information. A coordinated interdisciplinary approach is one possible solution for providing both comprehensive and cost-effective care, with benefits for patient satisfaction. Poor physical activity and impaired quality of life represent a considerable burden for these patients. To better address these issues, in 2012 we created an interdisciplinary team for the management of OI patients in our University Hospital Centre (CHUV, Lausanne University Hospital,). In this article we describe the implementation of this interdisciplinary care strategy for patients suffering from OI, and its impact on their physical activity and quality of life. METHODS: All patients from the French part of Switzerland were invited to join us. We proposed two complementary evaluations: the initial interdisciplinary evaluation and a yearly follow-up during a special day – the “OI day”. This day features specialised medical appointments adapted to each patient’s needs, as well as lectures and/or workshops dedicated to patients’ and families’ education. Our first aim was to propose for each patient the same management, from diagnosis to the bone health evaluation and physical therapy advice. Our second aim was to evaluate the evolution of physical activity, quality of life (measured by EQ-5D, SF-36 and a dedicated questionnaire) and satisfaction of patients and their families. Here we report both the initial and the long-term results. RESULTS: Since 2012, 50 patients from the French part of Switzerland received the personalised medical evaluation. All of the patients included in this study had the same initial evaluation and at least one participation in an OI Day. All patients had an adaptation of their bone acting drugs. Over a 7-year period, 62% of inactive patients started some physical activity, and 44% of patients who were not involved in any athletic activity started participating in sports. The mean EQ-5D increased from 0.73 to 0.75 (p = 0.59). The mean physical SF36 (musculoskeletal function) score was 59.09 ± 22.72 and improved to 65.79 ± 21.51 (p = 0.08), whereas it was 68.06 ± 20.05 for the mental SF36 without alteration during follow-up. The OI day was revealed to be useful, it contributed to improvement in continuity of care and helped families to better understand the OI patients’ health. CONCLUSIONS: Our interdisciplinary approach aimed at offering the same thorough management for all patients from the French part of Switzerland, and at improving both the physical activity and the satisfaction of the patients and their family. This report is a basis for future work focusing on the effect of bone fragility and the impact of OI on patients’ social relations.

Residual hip dysplasia in children: osseous and cartilaginous acetabular angles to guide further treatment-a pilot study.

PURPOSE: In case of residual hip dysplasia (RHD) in children, pelvic radiographs are sometimes insufficient to precisely evaluate the entire coverage of the femoral head, when trying to decide on the need for further reconstructive procedures. METHODS: This study retrospectively compares the bony and the cartilaginous acetabular angle of Hilgenreiner (HTE) of 60 paediatric hips on pelvic MRI separated in two groups. Group 1 included 31 hips with RHD defined by a bony HTE > 20°. Group 2 included 27 hips with a HTE < 20°. They were compared by introducing a new ratio calculated from the square of cartilaginous HTE above the bony HTE on frontal MRI. The normal upper limit for this acetabular angle ratio was extrapolated from the published normal values of cartilaginous HTE and bony HTE in children. RESULTS: The acetabular angle ratio was statistically significantly increased in the hips with RHD with a mean value of 7.1 ± 4.7 compared to the hips in the control group presenting a mean value of 2.1 ± 1.9 (p < 0.00001). CONCLUSIONS: This newly introduced ratio seems to be a helpful tool to orientate the further treatment in children presenting borderline RHD.

Paediatric musculoskeletal infections with Panton-Valentine leucocidin.

AIMS OF THE STUDY: Paediatric musculoskeletal infections by Panton-Valentine leucocidin (PVL)-producing Staphylococcus aureus constitute a rare, but highly critical event. They are characterised by a rapid course of marked inflammation, worsening under conservative therapy and a high rate of recurrence. This study aimed to illustrate the importance of paediatric PVL-producing S. aureus musculoskeletal infections in western Switzerland. METHODS: Case records, clinical parameters and biological assessments of children with musculoskeletal infections due to PVL-producing S. aureus who attended the University Hospitals of Lausanne and Geneva from 2008 to 2016 were studied retrospectively. RESULTS: Of the nine cases (seven male), four presented with haematogenous acute osteomyelitis, two with septic arthritis, and three with skin and soft tissue infections. Laboratory analysis revealed mean values for white blood cell count of 12,700/mm3, C-reactive protein (CRP) 171mg/l, erythrocyte sedimentation rate (ESR) 62 mm/h and platelet count 241,000/mm3. Notably, fever and laboratory values were higher for osteoarticular infections. PVL was produced by methicillin-sensitive S. aureus (MSSA) in eight cases and by community-acquired methicillin-resistant S. aureus (CA-MRSA) in one case. PVL was identified in blood cultures (six cases), operative samples (seven cases) and an oral swab (one case). Treatment relied on surgical procedures, endorsed by two-agent antimicrobial therapy for up to 9 weeks. Complications included recurrent infections (five cases), pathological fracture (one case) and growth arrest (two cases), as well as an important psychological impact (one case). CONCLUSION: The results of this study highlight the low prevalence of PVL-producing S. aureus musculoskeletal infections in the paediatric population in our region. Nevertheless, given the importance of complications, the recurrence rate and the duration of treatment, clinicians caring for children need to be especially well versed with the peculiarity of this entity. Retrospective case series. LEVEL OF EVIDENCE: IV.

[Targeted approach to osteoporosis for children and teenagers]. / Pédiatrie 5. Approche ciblée de l'ostéoporose chez l'enfant et l'adolescent.

The osteoporosis of the child and the teenager is a pathological reality; its multifactorial pathogenesis often requires a collaborative approach and multidisciplinary. The osteoporosis characterized by a reduction in the bone mineral density is not a uniform pathology; it must be dealt with on all the levels by analyzing the factors of risks, by giving itself the diagnostic means and while insisting on the importance of a preventive approach as well as therapeutic.

[Overuse injuries of the hip in adolescents]. / Problème de surcharge de l'articulation coxo-fémorale chez l'adolescent.

Painful femoro-acetabular impingement symptoms localized in the groin in flexion, adduction and internal rotation can be explained either by a primary disease of the labrum often post-traumatic, and more frequently as part of femoro-acetabular primary or secondary dysmorphia. The kinematic of the normal hip joint depends of peri-acetabular structures, geometry of joints and possible pathologies that could contribute to modify either the geometry or the proprioceptive function. By combining and analyzing these parameters it is possible to describe a joint concept of centricity, an essential parameter for optimal functions of the joint. The concept of overload is explained as the inability of the hip to ensure its centricity during activities that could lead to the occurrence of any degenerative disorders.

[Meticulous approach of the distal numeral epiphyseal fractures]. / Approche minutieuse des fractures epiphysaires de l'humérus distal.

Epiphyseal fractures of the distal humerus and their treatment are common, source of many complications that may be immediate but also delayed. If the families accept the possibility of trauma to their child as part of his leisure activities or sports at times intense, they are much more intolerant if their child does not return after injury and repair, optimal function and physical performance unchanged. This intolerance, faced with the trauma but not its consequences, requires us to be particularly careful in the information given to the patient but also in monitoring the first few weeks. The treatment of epiphyseal fractures remains difficult and must be performed by trained teams, aware of the subtleties of pathology. It is essential to organize close monitoring and critical to be able to correct errors or secondary displacement in the first 15 days.