Introduction. Type 1 neurofibromatosis is a serious hereditary disease in which mainly skin, nervous, muscular, and bone systems are damaged. In bone systems the most common deformities are thoracic kyphosis and scoliosis. Data for morphological changes in the structural components of spine in neurofibromatosis are scarce. Thus our study aimed to investigate morphological changes in structural components of the spine in NF1 neurofibromatosis. Methods. Growth plates, intervertebral discs, and fragments of vertebral bodies from deformed and adjacent segments of the spine were obtained from 15 patients aged 10–14 years with scoliosis (Cobb angle 90–120°) caused by neurofibromatosis. Preoperative examination included MRI study of the spine and brain to exclude intracanal masses, and radiographic study of the spine. Patients did not present any neurological symptoms. All children underwent anterior release and interbody fusion. Structural spinal components from children aged 12–14 years collected at forensic autopsy were used as controls. Tissues were investigated by conventional histochemical and ultrastructural methods. The levels of aggrecan and NF1 gene expression were studied with the PCR method. Results. The study of growth plate and intervertebral disc specimens removed during surgery for scoliosis in neurofibromatosis showed a clear boundary between their convex and concave sides. Both growth plate and intervertebral disc in convex side retain their architectonic and histochemical characteristics. The concave side of the growth plate is presented by small chondroblasts densely spaced without a definite orientation and surrounded by homogeneous matrix, which is made up of chondroitin sulphates. These embryonic-type chondroblasts are poorly differentiated. Chondroblasts proliferate beyond the growth plate. Proliferating cells invade into vertebral body and are bordered by thin bone lamellae, causing the scalloping of vertebral body as a radiological symptom of the pathology. Changes occurring in the intervertebral disc are of considerable interest. Concave-side disc is characterised by isolated proliferation zones containing poorly differentiated chondroblasts and fibroblasts, and neurinoma-like masses. Bone trabeculae inside a concave-side vertebra are passing the stage of osteogenesis imperfecta. Detected morphological changes in spinal structures are consistent with findings of Stevenson, who registered cartilage and bone deficiencies in animal model (mice with NF1 genemutation). Thus, morphological studies testify to structural disorder in concave side of the growth plate, but unchanged regularities and stages of chondroblast differentiation and adequate osteogenesis in the convex side. NF1 gene regulates the growth, differentiation, and proliferation of chondroblasts at the early stage of embryogenesis. Gene inactivation at a somite stage results in altered development of definitive spinal structures. Continued growth with adequate proliferation, differentiation, osteogenesis, and topochemical characteristics occurs in the convex-side growth plate, and growth disorder in the concave-side part with continued load cause growth asymmetry and development of spinal deformity. Scoliosis associated with neurofibromatosis is notable for deformity progression and pseudoarthrosis development after surgery. Deformity progression (modulation) should be considered in connection with disorder in osteogenic potency of osteoblasts. Conclusions. The causal factor of spinal deformity development in NF1 neurofibromatosis is NF1 gene mutation. Inactivation of NF1 gene results in disorder in chondrogenesis and osteogenesis within structurally altered zones. A continued load causes development of scoliotic spinal deformity

Aims. The aim of this study was to investigate whether including the stages of ulnar physeal closure in Sanders stage 7 aids in a more accurate assessment for brace weaning in patients with adolescent idiopathic scoliosis (AIS). Methods. This was a retrospective analysis of patients who were weaned from their brace and reviewed between June 2016 and December 2018. Patients who weaned from their brace at Risser stage ≥ 4, had static standing height and arm span for at least six months, and were ≥ two years post-menarche were included. Skeletal maturity at weaning was assessed using Sanders staging with stage 7 subclassified into 7a, in which all phalangeal physes are fused and only the distal radial physis is open, with narrowing of the medial physeal plate of the distal ulna, and 7b, in which fusion of > 50% of the medial growth plate of distal ulna exists, as well as the distal radius and ulna (DRU) classification, an established skeletal maturity index which assesses skeletal maturation using finer stages of the distal radial and ulnar physes, from open to complete fusion. The grade of maturity at the time of weaning and any progression of the curve were analyzed using Fisher’s exact test, with Cramer’s V, and Goodman and Kruskal’s tau. Results. We studied a total of 179 patients with AIS, of whom 149 (83.2%) were female. Their mean age was 14.8 years (SD 1.1) and the mean Cobb angle was 34.6° (SD 7.7°) at the time of weaning. The mean follow-up was 3.4 years (SD 1.8). At six months after weaning, the rates of progression of the curve for patients weaning at Sanders stage 7a and 7b were 11.4% and 0%, respectively for those with curves of < 40°. Similarly, the rates of progression of the curve for those being weaned at ulnar grade 7 and 8 using the DRU classification were 13.5% and 0%, respectively. The use of Sanders stages 6, 7a, 7b, and 8 for the assessment of maturity at the time of weaning were strongly and significantly associated (Cramer’s V 0.326; p = 0.016) with whether the curve progressed at six months after weaning. Weaning at Sanders stage 7 with subclassification allowed 10.6% reduction of error in predicting the progression of the curve. Conclusion. The use of Sanders stages 7a and 7b allows the accurate assessment of skeletal maturity for guiding brace weaning in patients with AIS. Weaning at Sanders stage 7b, or at ulnar grade 8 with the DRU classification, is more appropriate as the curve did not progress in any patient with a curve of < 40° immediately post-weaning. Thus, reaching full fusion in both distal radial and ulnar physes (as at Sanders stage 8) is not necessary and this allows weaning from a brace to be initiated about nine months earlier. Cite this article: Bone Joint J 2021;103-B(1):141–147

Introduction. Elastic fibres are constructed of a central core of elastin surrounded by microfibrils that are composed mainly of fibrillin-1 and fibrillin-2. Patients with mutations in the gene encoding fibrillin-1 or fibrillin-2 develop Marfan syndrome or Beals syndrome (congenital contractural arachnodactyly), respectively. Scoliosis is one of the clinical manifestations in these patients, but how a defect in the elastic proteins could lead to a spinal deformity is not clear. On the one hand, the mutations could induce scoliosis via mechanical means as they could lead to alterations in the biomechanics of the elastic fibre system. On the other hand, elastic fibres also bind growth factors such as transforming growth factor β (TGFβ) and bone morphogenic proteins (BMPs), and the mutations could hence change patterns of spinal growth. Methods. We have investigated the localisation of elastic proteins in different spinal tissues at different stages of curve development in mouse models and in human tissue obtained during scoliosis surgery. Results. Elastic proteins were observed not only in the spinal connective tissues such as ligaments and intervertebral discs, but also in muscle and the bone matrix. The distribution of the different elastic proteins was tissue specific. Additionally, elastic proteins were also detected in the matrix of the vertebral-body growth plates (figure), which has not been reported previously. Conclusions. These observations suggest that elastic proteins could have several functions in the spinal column. Their presence and organisation in the growth plate suggests that they could play an important part in orchestration of spinal growth; a fibrillin mutation-induced malfunction in this regard could be a factor in the development of scoliosis

Introduction. In patients with adolescent idiopathic scoliosis (AIS), anomalous extra-spinal left-right skeletal length asymmetries in upper limbs, periapical ribs, and ilia beg the question as to whether these bilateral asymmetries are connected in some way with pathogenesis. The upper arm and iliac length asymmetries correlate significantly with adjacent spinal curve severity respectively in thoracic and lower (thoracolumbar and lumbar) spine. In lower limbs, skeletal length asymmetries and proximo-distal disproportion are unrelated to spinal curve severity. Overall, these observations raise questions about mechanisms that determine skeletal bilateral symmetry of vertebrates in health and disorder, and whether such mechanisms are involved in the cause of this disease. We investigated upper arm length (UAL) asymmetries in two groups of right-handed girls aged 11–18 years, with right thoracic adolescent idiopathic scoliosis (RT-AIS, n=98) from preoperative and screening referrals (mean Cobb angle 45°) and healthy controls (n=240). Methods. Right and left UAL were measured with a Harpenden anthropometer of the Holtain equipment, by one of four observers (RGB, AAC, RKP, FJP). UAL asymmetry was calculated as UAL difference, right minus left, in mm. Repeatability of the measurements was assessed by technical error of the measurement (TEM) and coefficient of reliability (R). Results. In girls with RT-AIS, UAL asymmetry was greater than it was in healthy girls (mean 5·9 mm vs 2·5 mm, ANOVA p<0·001, correcting for age), regressed negatively with age (p<0·001, r= –0·374), and correlated significantly with Cobb angle (r=0·342, p=0·001) and apical vertebral rotation (Perdriolle, r=0·291, p=0·004). In healthy girls, UAL asymmetry was unrelated to age. Plotted against years after estimated menarcheal age, right UAL overgrowth reduced significantly for girls with RT-AIS (r= –0·312, p=0·006, n=76) but not for healthy girls (r=0·000, p=0·985, n=121), which was a significant finding (p=0·052, ANOVA). Conclusions. The abnormal overgrowth of right upper arm length may be secondary, or pathogenetically associated with the RT-AIS trunk deformity. The negative regression of UAL asymmetry may result from (1) older girls having less residual growth and/or (2) a transient, or resolving, asymmetry process common to arm and trunk. We hypothesise that the pathogenetic process of RT-AIS may include two components: a transient bilateral asymmetry process and growth velocity, both of which affect trunk and arm growth. In the spine, these rarely lead to scoliosis resolution because biomechanical, postural, melatonin-signalling, and other factors sustain and aggravate the curve. Four pathomechanisms may induce the asymmetry process in trunk and arms involving (1) neuromuscular function, (2) motor cortex, (3) sympathetic nervous system, and (4) intrinsic time-tallies in growth plates, some of which suggest therapeutic possibilities

Aims

Spinal fusion remains the gold standard in the treatment of idiopathic scoliosis. However, anterior vertebral body tethering (AVBT) is gaining widespread interest, despite the limited data on its efficacy. The aim of our study was to determine the clinical efficacy of AVBT in skeletally immature patients with idiopathic scoliosis.

Aims

Magnetically controlled growing rods (MCGR) have been gaining popularity in the management of early-onset scoliosis (EOS) over the past decade. We present our experience with the first 44 MCGR consecutive cases treated at our institution.

Aims

To address the natural history of severe post-tuberculous (TB) kyphosis, with focus upon the long-term neurological outcome, occurrence of restrictive lung disease, and the effect on life expectancy.

Back pain is a common symptom in children and adolescents. Here we review the important causes, of which defects and stress reactions of the pars interarticularis are the most common identifiable problems. More serious pathology, including malignancy and infection, needs to be excluded when there is associated systemic illness. Clinical evaluation and management may be difficult and always requires a thorough history and physical examination. Diagnostic imaging is obtained when symptoms are persistent or severe. Imaging is used to reassure the patient, relatives and carers, and to guide management.

Cite this article: Bone Joint J 2014;96-B:717–23.

It has been noted that bony union of a pars defect can be achieved in children if they wear a trunk brace. Our aim was to evaluate how the stage of the defect on CT and the presence or absence of high signal change in the adjacent pedicle on T2-weighted MRI were related to bony healing. We treated 23 children conservatively for at least three months. There were 19 boys and four girls with a mean age of 13.5 years (7 to 17). They were asked to refrain from sporting activity and to wear a Damen soft thoracolumbosacral type brace. There were 41 pars defects in 23 patients. These were classified as an early, progressive or terminal stage on CT. The early-stage lesions had a hairline crack in the pars interarticularis, which became a gap in the progressive stage. A terminal-stage defect was equivalent to a pseudarthrosis. On the T2-weighted MR scan the presence or absence of high signal change in the adjacent pedicle was assessed and on this basis the defects were divided into high signal change-positive or -negative. Healing of the defect was assessed by CT.

In all, 13 (87%) of the 15 early defects healed. Of 19 progressive defects, only six (32%) healed. None of the seven terminal defects healed. Of the 26 high signal change-positive defects 20 (77%) healed after conservative treatment whereas none of the high signal change-negative defects did so. We concluded that an early-stage defect on CT and high signal change in the adjacent pedicle on a T2-weighted MR scan are useful predictors of bony healing of a pars defect in children after conservative treatment.

An eight-week-old boy developed severe thoracic spondylodiscitis following pneumonia and septicaemia. A delay in diagnosis resulted in complete destruction of the T4 and T5 vertebral bodies and adjacent discs, with a paraspinal abscess extending into the mediastinum and epidural space. Antibiotic treatment controlled the infection and the abscess was aspirated. At the age of six months, he underwent posterior spinal fusion in situ to stabilise the spine and prevent progressive kyphosis. At the age of 13 months, repeat imaging showed lack of anterior vertebral body re-growth and he underwent anterior spinal fusion from T3 to T6 and augmentation of the posterior fusion. At the age of five years, he had no symptoms and radiographs showed bony fusion across the affected levels.

Spondylodiscitis should be included in the differential diagnosis of infants who present with severe illness and atypical symptoms. Delayed diagnosis can result in major spinal complications with a potentially fatal outcome.