Congenital Spinal Deformity Research Articles

Analysis of Xenobiotics Biotransformation and DNA Repair Genes as Factors of Aetiology, Pathogenesis and Criteria of Progression in Children with Congenital Spine Deformities

Analysis of Xenobiotics Biotransformation and DNA Repair Genes as Factors of Aetiology, Pathogenesis and Criteria of Progression in Children with Congenital Spine Deformities

Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient

Introduction Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection. Case Presentation We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations. Discussion Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.

Reliability of the EOS Imaging System for Assessment of the Spinal and Pelvic Alignment in the Sagittal Plane.

BackgroundThe sagittal alignment of the spine and pelvis is not only closely related to the overall posture of the body but also to the evaluation and treatment of spine disease. In the last few years, the EOS imaging system, a new low-dose radiation X-ray device, became available for sagittal alignment assessment. However, there has been little research on the reliability of EOS. The purpose of this study was to evaluate the intrarater and interrater reliability of EOS for the sagittal alignment assessment of the spine and pelvis.MethodsRecords of 46 patients were selected from the EOS recording system between November 2016 and April 2017. The exclusion criteria were congenital spinal anomaly and deformity, and previous history of spine and pelvis operation. Sagittal parameters of the spine and pelvis were measured by three examiners three times each using both manual and EOS methods. Means comparison t-test, Pearson bivariate correlation analysis, and reliability analysis by intraclass correlation coefficients (ICCs) for intrarater and interrater reliability were performed using R package “irr.”ResultsWe found excellent intrarater and interrater reliability of EOS measurements. For intrarater reliability, the ICC ranged from 0.898 to 0.982. For interrater reliability, the ICC ranged from 0.794 to 0.837. We used a paired t-test to compare the values measured by manual and EOS methods: there was no statistically significant difference between the two methods. Correlation analysis also showed a statistically significant positive correlation.ConclusionsEOS showed excellent reliability for assessment of the sagittal alignment of the spine and pelvis.

Congenital spinal deformity: assessment, natural history and treatment

Congenital spinal deformity is caused by vertebral anomalies that produce an imbalance in spinal growth. Anomalies can be classified as failures of vertebral formation, failures of segmentation or a mixture of both. The natural history and risk of deformity progression depends on the anatomical location and type of anomaly. Patients should be assessed with a thorough clinical evaluation including investigations for renal, cardiac and intraspinal anomalies. Timely diagnosis and estimation of risk of progression is required to allow early surgical intervention before a severe curve develops. This may take the form of in situ fusion or hemi-epiphysiodesis where there is minimal deformity. In moderate deformities a posterior instrumented correction and fusion may be needed, while in severe deformities osteotomies or vertebral column resection may be required. Surgery in patients with congenital spinal deformity carries a risk of neurological injury so an early simple surgical treatment should be favoured to minimize the risk of complications.

Congenital Spine Deformity with Fused Ribs Treated with Proximal Rib- vs. Spine-Based Growing Constructs

179 patients with congenital rib fusions treated with rib-based or spine-based constructs and minimum 2-year follow-up were reviewed. 19 patients were treated with proximal spine-based and 160 with proximal rib-based devices. Patients treated with growing rods achieved equivalent SAL to those treated with rib-based devices, while also achieving greater improvement to their spine deformity, as measured by postoperative kyphosis, and Cobb angle.

P116 - Safety and Efficacy of Osteotomy for Congenital Spinal Deformity Associated with Split Spinal Cord Malformation

PURPOSE: The aim of this study is to retrospectively evaluate the safety and efficacy of osteotomy for 56 consecutive patients, who had progressive congenital spinal deformity (CSD) associated with split spinal cord malformation (SSCM).

Analysis of results of treatment without-of-spine-based implants in patients with multiple congenital anomalies of the spine and thorax

Aim. Treatment of patients with multiple congenital anomalies of the spine is a complex problem, demanding both correction and stabilization to be performed as early as possible without disturbing the growth of the spinal column. To achieve the latter, different instrumentation, such as rib-based distractors, may be useful. Little is known this treatment of congenital spine deformities. We aimed to investigate the results of treatment in our patients with the use of out-of-spine-based metal implants.
 Material and methods. During 2012–2016, there were 44 procedures performed in 20 patients at an age of 2 years to 12 years. In 13 cases, the deformity was located in the thoracic spine and in the thoracolumbar regions in 7 cases. We used bifocal rib-rib connections in 18 procedures, and a rib-spine connection in 26 cases. Results were evaluated based upon the amount of achieved correction after each procedure, amount of stages of treatment, and complication rates.
 Results. The mean curve magnitude was 68.7°. The mount of staged procedures varied from 3 to 7. The mean amount of achieved correction was 15.1°. In all cases, deformity was lower than at the beginning of the treatment. The complication rate was 15.9%.
 Conclusion. We assume that out-of-spine-based metal implants may be used in treatment of patients with multiple congenital spine and thorax anomalies, as this technique allows effective correction and stabilization of the deformity, as well as increases the volume of the hemithorax.

Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape.

The incidence of congenital spine deformities, including congenital scoliosis, kyphosis, and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation, and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick. The critical time-points for the influence of fetal movements on spinal development were identified by varying the time of onset of paralysis. Prolonged rigid paralysis induced severe defects in the spine, including curvature abnormalities, posterior and anterior vertebral fusions, and altered vertebral shape, while flaccid paralysis did not affect spinal curvature or vertebral segmentation. Early rigid paralysis resulted in more severe abnormalities in the spine than later rigid paralysis. The findings of this study support the hypothesis that the timing and nature of fetal muscle activity are critical influences on the normal development of the spine, with implications for the understanding of congenital spine deformities. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:2135-2144, 2017.

Chondrocyte-Specific Knockout of TSC-1 Leads to Congenital Spinal Deformity in Mice.

Congenital spinal deformity is the most severe clinical orthopedic issue worldwide. Among all the pathological processes of congenital spinal deformity, the imbalance of endochondral ossification is considered to be the most important developmental cause of spinal dysplasia. We established chondrocyte-specific TSC-1 knockout (KO) mice to overactivate the energy metabolic component, mammalian target of rapamycin complex 1 (mTORC1), and measured the spinal development by general, imaging, histological, and Western-blot assessments. In addition to skeletal dysplasia, the KO mice displayed severe congenital spinal deformity and significant intervertebral disc changes. This study suggests that, in the process of endochondral ossification, excessive activation of mTORC1 signaling in chondrocytes induces obvious spinal deformity, and the chondrocytes may be the cell type responsible for congenital spinal deformity.

The Results of Hemivertebra Resection by the Posterior Approach in Children with a Mean Follow-Up of Five Years.

Aim To evaluate the radiologic and clinical results of patients who underwent deformity correction and stabilization for congenital spinal deformities using pedicle screws after hemivertebra resection. Material and Method Nine patients, mean age 9.2, who underwent posterior hemivertebrectomy and transpedicular fixation for congenital spinal deformity and had longer than five years of follow-up were evaluated retrospectively. The hemivertebrae were located in the thoracic region in 4 patients and thoracolumbar transition region in 5 patients. The patients were evaluated radiologically and clinically in the postoperative period. Results Mean length of follow-up was 64.2 months. The mean operating time was 292 minutes. The mean blood loss was 236 mL. The average hospitalization time was 7 days. The amount of correction on the coronal planes was measured as 31%. The mean segmental kyphosis angle was 45.7 degrees preoperatively and it was measured 2.7 degrees in the follow-up period. There were no statistically significant differences between the early postoperative period and final follow-up X-rays with respect to coronal and sagittal plane deformities. Conclusion The ability to obtain a sufficient and balanced correction in the cases accompanied by long compensator curvatures that have a structural character in hemivertebra may require longer fusion levels.

Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging.

PurposeCongenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases.MethodsAll patients aged ≤13 years (n = 75) presenting to the pediatric spine clinic from 2003−2013 with congenital bony spinal deformity and both radiographs and MRI were analyzed retrospectively for bone and neural pathology. Chi-squared analysis was used to compare groups for categorical dependent variables. Independent t tests were used for continuous dependent variables. Significance was set at p < 0.05.ResultsFifty-five percent of congenital spine deformity patients (n = 41) had associated spinal cord anomalies on MRI. Complex bony abnormalities had a higher incidence of cord anomalies than simple abnormalities (67, 37 %; p = 0.011). Mixed deformities of segmentation and formation had a higher incidence of cord anomalies (73 %) than failures of formation (50 %) or segmentation (45 %) alone (p = 0.065). Deformities in the sacrococcygeal area had the highest rate of spinal cord anomalies (13 of 15 patients, 87 %). In 35 cases (47 %), MRI revealed additional bony anomalies that were not seen on the radiographs.ConclusionsAs the number of bony malformations increased, we found a higher incidence of cord anomalies. Clinicians should have increased suspicion of spinal cord pathology in the presence of mixed failures of segmentation and formation.

Diagnosis and treatment of split spinal cord malformations combined with congenital spinal deformity

Split spinal cord malformation(SSCM) is a rare neurological abnormality that spinal cord was separated in the sagittal plane.Based on the tissue element and type of thecal shvac, SSCM is classified intoⅠ, Ⅱand mixed type.Congenital spinal deformity(CSD) is caused by the vertebral body formed or segmented obstacles.CSD can be divided into 3 types: Ⅰ, Ⅱand mixed type.Both of SSCM and CSD are diagnosed depending on clinical symptoms, X rays, computed tomography(CT), magnetic resonance imaging(MRI) and other examine.Genitourinary and cardiac ultrasound should be performed at the same time.Progression of spinal deformity and nerve injury are accompanied with the growth process of children with CSD and SSCM.Early surgery can avoid further injury of nervous system, prevent spinal deformity progress and obtain good correction.Segmental tissue removal, tethered cord release and spinal deformity correction are generally consisted into an individual operative plan at present.Traditional surgical option included 2 steps: tissue removal and tethered cord release are conducted atⅠphase surgery; then conducted the spinal deformity correction atⅡ phase.However, some reports suggested that completed the process of tissue removal, tethered cord release and spinal deformity correction at one surgery also obtain a satisfied effictiveness.The aim of this research is to review and discuss the diagnosis of the SSCM with CSD and evaluate the treatment effectiveness of Ⅰphase surgery instead of the traditional surgical option. Key words: Split spinal cord malformation; Congenital spinal deformity; Operation treatment

Intraoperative spinal cord monitoring in children under 4years old.

The purpose was to study intraoperative spinal cord monitoring (IOM) particularities and performances in children under 4years old with congenital spinal deformities. IOM is characterized by specific difficulties due to the immaturity of sensory-motor pathways in such young patients. To the best of our knowledge, this study is the largest dedicated to IOM in this challenging population. This study was retrospective and monocentric. 78 IOM in children under 4years old were analyzed. Somatosensory evoked potentials (SSEP), neurogenic mixed evoked potentials (NMEP) and D waves were performed. Patients were classified into one of four categories with respect to IOM data and clinical outcome: true positive, false positive, true negative and false negative. Sensitivity and specificity were then calculated accordingly. There were 6 true positive, 3 false positive, 67 true negative and 1 false negative outcomes. One patient was characterized by unreliable baseline IOM data. IOM sensitivity was 86%. IOM specificity was 96%. The false negative case was monitored using SSEP alone. IOM was difficult in 10/77 cases, being unilateral because of a planned fibular graft harvest. NMEP were characterized by higher signal-to-noise ratio than SSEP. Immaturity of sensory-motor pathways predominates in the central rather than the peripheral nervous system in young children. MEP and D waves could thus be difficult to obtain. Although non-specific to motor pathways, it could be useful to "by-pass" the brain, using NMEP. In regard to maturational particularities, IOM in children under 4years old should be performed by experienced neurophysiologists, avoiding in these cases surgeon-guided devices.

Convex Instrumented Hemiepiphysiodesis With Concave Distraction: A Treatment Option for Long Sweeping Congenital Curves.

Convex hemiepiphysiodesis has been reported to have mixed results in the treatment of congenital spine deformities. Multiple modifications of the original technique were suggested to improve the results. The purpose of this study is to report the results and complications of an instrumented convex growth arrest procedure modified with concave distraction. The records of 11 patients with long sweeping congenital curves (involving multiple anomalous vertebrae) who underwent convex instrumented hemiepiphysiodesis with concave distraction were evaluated. Mean age at index operation was 58 months (range, 29 to 101 mo). Lengthening of the concave distraction rod was done every 6 months. The magnitude of coronal/sagittal deformity and T1-T12 height were measured on the preoperative, postoperative, and latest follow-up radiographs. Average follow-up was 44.9 months (range, 24 to 89 mo). In the coronal plane, the convex hemiepiphysiodesis segment was corrected from an average of 60.5 to 40.4 degrees postoperatively and further improved to 35.5 degrees at the latest follow-up. The distracted segment was corrected from 33.4 to 15.2 degrees postoperatively and to 12.7 degrees at the latest follow-up. Sagittal plane alignment was minimally affected. The average T1-T12 height was 157.1 mm in the early postoperative period and 181.1 mm at last follow-up. During follow-up, we identified partial pull-out of screws on the distraction side in 5 of the 11 patients and rod breakages in 3 patients. These were revised during planned lengthenings. There were no unplanned surgeries, deep wound infections, nor neurological complications. Convex instrumented hemiepiphysiodesis with concave distraction resulted in good curve correction while maintaining the growth of thorax. The correction of the anomalous segment improved over time, proving the effectiveness of the hemiepiphysiodesis. Addition of a concave distraction construct appears to enhance spinal growth, thereby augmenting the hemiepiphysiodesis effect.

Posterior based 2 or 3 Column Spinal Osteotomies and Release followed by a Controlled Halo-Pelvic Distraction in the Management of Neglected and Complicated Spinal Deformities: A Safe and New Technique

Introduction Neglected severe and rigid spinal deformities pose a big challenge to spine surgeons. The neglect adds other risk factors like decompensated respiratory function, fused rigid curve and neurological deficit to an already complex problem. Single stage and anterior surgery are fraught with complications in an already compromised lung condition. The visco-elastic properties of spine utilized through awake halo-pelvic distraction aided by posterior release and a posterior based 2 or 3 column osteotomy allow safe correction of deformity before a definitive procedure is planned. We present our experience of treating 3 such cases. Materials and Methods Retrospective review of hospital records identified three patients. Two patients had neglected early onset congenital spinal deformity with intra-spinal anomaly. The third patient was an old operated case of neuromuscular scoliosis with fused spine with crankshaft phenomenon. All three patients presented with a poor pulmonary function on admission. The curves were severe( &gt; 90°) and rigid with flexibility of only 10%. All three patients were managed by posterior release and periapical posterior based 2 or 3 column osteotomies with halo-pelvic distraction and finally posterior spinal instrumentation and fusion. Results Mean preoperative coronal cobb's angle 102° corrected to 72.33° after posterior based osteotomies and halo-pelvic distraction alone and was 56° after final posterior instrumentation with or without intraoperative manoeuvring. The results were encouraging at three years follow-up, with improved pulmonary function. Conclusion Staged surgeries with controlled and awake, axial distraction using halo-pelvic apparatus with posterior based spinal osteotomies and release offer a safe and effective option in the treatment of severe rigid three plane deformities of the spine with severe respiratory compromise.

Does pedicle screw fixation under age 5 cause spinal canal narrowing? A CT study with minimum 5years follow-up.

The aim of this retrospective study was to evaluate the changes in the vertebral body and spinal canal area in a group of patients who had pedicle screw fixation under age 5 for the treatment of congenital spinal deformity at least 5year follow-up. 11 patients who had been operated due to spinal deformity under age 5 with who had a CT examination at least 5years after the initial operation were included in the study. All patients underwent hemivertebrectomy and transpedicular fixation procedures at an average age of 3.18years (range 2-5years). All had preoperative CT to evaluate the congenital deformities. Measurements were done at the instrumented vertebrae as well as the un-instrumented ones above and below them to evaluate; vertebral body parameters, pedicle parameters and spinal canal area of upper instrumented vertebra (UIV), lower instrumented vertebra (LIV), upper adjacent un-instrumented vertebra and lower adjacent un-instrumented vertebra. The average follow-up was 7.2 (range 5-12) years. Six of the patients were over age 10 during the final CT examination while 5 were at age 7. Female-to male ratio was 8-3. Measurement of all the parameters in 22 instrumented and 22 non-instrumented segments showed a proportional increase rather than a decrease at each segment. The percentage of canal area growth at UIV and LIV was 21 and 17.5%, respectively. Pedicle screw instrumentation has no adverse effect on further spinal body, pedicle and canal growth and does not result in iatrogenic spinal canal stenosis.

Imaging features of split cord malformation associated with scoliosis and its correlation with neurologic symptoms

Objective To analyze the imaging features of congenital spinal deformity (CSD) associated with split cord malformation (SCM) and other intraspinal abnormalities, and to investigate the relationship to neurological symptoms. Methods 105 cases CSD with SCM were retrospectively studied. Analysis the imaging features of SCM (including type of SCM, location of SCM, location and apical vertebrae, symmetry of divided cord) and other intraspinal abnormalities. To investigate the relationship of the factors and neurological symptoms using Chi-square test of one factor and multiple factors logistic regression analysis. Results 28 cases (26.7%) were formation failure, 33 cases (31.4%) were segmentation failure, and 44 cases (41.9%) were combination of 2 disorders. 41 cases had neurological symptoms, 64 cases were asymptomatic. The distribution of SCM combined with spinal deformities: thoracic (11 cases), thoracolumbar (18 cases) and lumbar (20 cases) in type I SCM, thoracic (31 cases), thoracolumbar (20 cases) and lumbar (5 cases) in type II, none was in cervical. The location of SCM upper than apical vertebrae 29 cases, on apical vertebrae 25 cases, lower than apical vertebrae 51 cases. Spinal cord was splitted symmetric 27 cases and asymmetric 78 cases. 66 cases combined with other intraspinal abnormalities, lower conus 42 cases, syringomyelia 38 cases, meningocele 10 cases and sakrale zyste 5 cases. Associated with intraspinal abnormalities, the rate of neural symptoms was different. According to Chisquare test of one factor and multiple factors logistic regression analysis, lumbar SCM, spinal cord asymmetric and lower conus were related with neurological symptoms. Conclusion The predilection spinal deformity of type I is combination, type II SCM is segmentation failure. When SCM patients associated with other intraspinal abnormalities, the incidence of neurologic symptoms is increased. The lumbar SCM, hemicords asymmetry and lower lying conus have significant relationship with neurologic symptoms. Key words: Scoliosis; Neural tube defects; Syringomyelia; Spinal cord diseases

Paper #5 Vertebrectomy With Short Fusion for Failure of Formation in Congenital Spinal Deformity During Growth: Is Early Surgical Intervention Recommended?

Paper #5 Vertebrectomy With Short Fusion for Failure of Formation in Congenital Spinal Deformity During Growth: Is Early Surgical Intervention Recommended?

Evaluation of the VEPTR (Vertical Expandable Prosthetic Titanium Rib) Device in the Treatment of Patients with Congenital and Neuromuscular Spinal Deformities

Introduction Multiple methods are included in the management of congenital, neuromuscular, or idiopathic scoliosis in younger patients. The traditional surgical treatments, such as, in situ fusion and hemiepiphysiodesis have not addressed the thoracic deformity in three dimensions, and the results are usually insufficient and unpredictable. The objective of the VEPTR management is focused on the chest wall extensions, to provide more space for the developing lungs, and prevents progression of the scoliotic deformity. From results of studies on the effectiveness of patients with VEPTR within early onset scoliosis, we designed a retrospective case series study for clinical and radiological outcomes of VEPTR system in the management of patients with spinal deformities in congenital and neuromuscular scoliosis. Patients and Methods This is a retrospective case series study. A total of 23 patients, 15 women and 8 men, with congenital and neuromuscular scoliosis, treated with VEPTR implantation, from January 2008 to May 2014 were included. The average age for the initial insertion of VEPTR was 5 years (range, 8 months–12 years), with an average follow-up time of 26 months. Specific data for the construction of the implant were collected; the pre- and postoperative X-rays were measured by the Cobb method to evaluate the magnitude of the curve, and the total length of the system in the coronal plane before insertion of the VEPTR device, and after each elongation were measured. In addition, complications such as infection, failure of material, pressure zones, synostosis, and hemothorax were evaluated. Results Our results demonstrated that there was an improvement in the postoperative Cobb angle measurement in the coronal plane. In children with congenital scoliosis, the average correction was 13% ( p &lt; 0.001) and in neuromuscular scoliosis was an average correction of 22% ( p &lt; 0.001). Likewise, there was an increase of the thoracic length measured through the VEPTR device, developing an average elongation of 9% of the column in children with congenital scoliosis and 18% in children with neuromuscular scoliosis. In this study, complications such as device migration, costal synostosis, pressure injuries, rib fractures, hemothorax, and deep infection were identified. Conclusion The data analysis shows that the natural history of progressive spinal deformities in children with congenital and neuromuscular scoliosis was satisfactorily controlled by using the VEPTR device. This allows us to recommend the use of this implant and continue using it in the treatment of patients with these deformities.

Environmental aspects of congenital scoliosis.

Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.