Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular system is always involved. The aim of the present study was to establish a framework for MPS-related orthopaedic manifestations and for their treatment. The authors, affiliated to three different Italian Orthopaedic Centres, report data taken from the literature reviewed in light of their accumulated professional experience. Bone alterations make up what is known as dysostosis multiplex, involving the trunk and limbs and with typical radiological findings. Joints are affected by pathological tissue infiltrations. The cervical spinal cord is involved, with stenosis and cervical and occipitocervical instability. In MPS there is a much higher incidence of scoliosis compared with healthy subjects without any particular distinctive feature. Kyphosis of the spine is more frequent and also more severe because of its possible neurological complications, and it is localized at the thoracolumbar level with a malformed vertebra at the top of the deformity. Evolving forms, and those associated with neurological damage, require anteroposterior spine fusion. The hip is invariably involved, with dysplasia affecting the femoral neck (coxa valga), the femoral epiphysis (loss of sphericity, osteonecrosis), and the femoral acetabulum which is flared. All these features explain the tendency to progressive hip migration. Genu valgum is often found (a deviation of the physiological axis with an obtuse angle opening laterally). This deformity is often localized at the proximal tibial metaphysis; it causes functional limitations and leads to an irregular erosion of the articular cartilage. In young patients who still have the growth plate, it is possible to execute a medial hemiepiphysiodesis, a temporary inhibition of cartilage growth, with progressive axis correction. In this paper, the characterisation of clinical features and the review of treatments are divided into separate sections based on the part of the body involved. The conclusions of each section are presented as a summary. One section discusses the high risk of anaesthesia-related complications requiring the collaboration of specifically trained personnel.

BackgroundThe growing cost of health care and lack of specialised staff have set e-Health high on the European political agenda. In a prospective study we evaluated the effect of providing images for remote consultation through an iPad on the number of in-hospital orthopaedic consultations for children with bone fractures.MethodsChildren from 0 to 18 years diagnosed with a bone fracture by the radiologist during the hours when an orthopaedic service is provided only on-call were eligible for enrollment. Cases were enrolled prospectively during September and October 2013. A standard approach (verbal information only, no X-Ray provided remotely) was compared to an experimental approach (standard approach plus the provision of X-ray for remote consultation through an iPad). The primary outcome was the number of orthopaedic in-hospital consultations that occurred. Other outcomes included: immediate activation of other services; time needed for decision-making; technical difficulties; quality of images and diagnostic confidence (on a likert scale of 1 to 10).ResultsForty-two children were enrolled in the study. Number of in-hospital consultancies dropped from 32/42 (76.1%) when no X-ray was provided to 16/42 (38%) when the X-rays was provided (p < 0.001). With remote X-ray consultation in 14/42 (33.3%) cases services such as surgery and plaster room could be immediately activated, compared to no service activated without teleradiology (p < 0.001). Average time for decision making was 23.4 ± 21.8 minutes with remote X-ray consultation, compared to 56.2 ± 16.1 when the X-ray was not provided (p < 0.001). The comparison between images on the iPad and on the standard system for X- Ray visualisation resulted in a non statistically significant difference in the quality of images (average score 9.89 ± 0.37 vs 9.91 ± 0.30; p =0.79), and in non statistically significant difference in diagnostic confidence (average score 9.91 ± 0.32 vs 9.92 ± 0.31; p = 0.88).ConclusionsRemote X-ray consultation through Aycan OsiriX PRO and iPad should be considered as a means for reducing the need of in-hospital orthopaedic consultation during on-call times, and potentially decrease the cost of care for the health system. In the future, alternative systems less expensive than Aycan OsiriX PRO should be further developed and tested.

This study aimed at verifying the efficacy of growing rod treatment in patients affected by neurofibromatosis with early-onset scoliosis. The authors present a retrospective case study of seven children treated between 2001 and 2017. Mean age at initial surgery was 7.2 years. Mean Cobb angle was 82.7°. Lengthening was performed once a year. Mean Cobb angle at last follow-up was 50.1°. Mean spinal growth was 13.6 mm/year, with regular gain during lengthening procedures. Mean follow-up period was 7 years after the first surgery. Three patients underwent final fusion. Complications were one proximal junctional kyphosis, nine rod breakages, and one hook dislocation.

BackgroundEarly onset scoliosis (EOS) can lead to marked spine and chest wall deformity and often to profound cardiopulmonary compromise. Nowadays, treatment benefits from the possibility of a growth-friendly surgical approach to avoid early spinal fusion. Growing rod spinal implants allow maximizing spine and thorax growth during childhood, performing lengthening procedures traditionally approximately every 6 months.MethodsWe retrospectively evaluated 40 patients affected by EOS who underwent growing rod implantations from 2000 to 2020. A 1-year interval between lengthening procedures was adopted. Data about the age at the first and final surgeries, T1-T12 length pre- and post-surgery, T1-S1 pre- and post-surgery, major coronal curve, pre- and post-surgery rate of complications, and unplanned surgeries were collected and compared with those reported in the literature to determinate the effectiveness and safety of this long period between distractions.ResultsThe lengthening procedures were performed, on average, every 12.3 months; children underwent an average of 4.6 lengthening procedures each. Major curve pre-first surgery was 78°, post-first surgery 45°, pre-final surgery 55°, and post-final surgery 43°. The mean absolute difference between pre-initial to post-final major curve was 35°, representing a mean relative difference of 42%. On average, the T1-T12 segment measured 15 cm before the first surgery and 24 cm after the final surgery, while the T1-S1 segment was 25 cm before the growing rods implantation and reached 37 cm after treatment. During treatment, the adverse events affected 27 of the 40 total patients (67%) who experienced at least one complication. No differences were shown concerning both outcomes and complications, comparing these data with the available literature concerning most frequent elongations. This approach avoided four to five surgical procedures in this population.ConclusionOur results related to deformity correction and complication rate are comparable with those found in the literature, where lengthening procedures are performed approximately every 6 months rather than with a 1-year interval between distractions. We also demonstrate a higher risk of complications for patients with implants before the age of 6.

No abstract