Classification of Emerging Scoliosis in Congenital Scoliosis After Hemivertebra Resection and Short Segmental Fusion.

OBJECTIVE: Emerging scoliosis (ES) is a rare phenomenon after hemivertebra (HV) resection and short segmental fusion. Since the introduction of the ES, there have been rare in-depth studies. The aim of the present study was to further analyze the characteristics, risk factors, treatment, and prognosis of ES. METHODS: A retrospective study analyzed patients with congenital scoliosis due to a single HV who underwent posterior correction and short fusion from 2002 to 2022. ES was defined as a Cobb angle ≥20° from its initial value and an apical vertebra located ≥2 levels away from the fusion region. ES patients and non-ES patients were matched at a 1:2 ratio. Both demographics and radiological parameters were compared. Univariate analysis and multivariate logistic analysis were used to identify the risk factors of ES. RESULTS: Among 261 patients, 13 patients (5.0%) experienced ES. There were eight females and five males. The mean age of the ES patients at the time of primary surgery was 6.6 ± 3.7 years old (2.0-13.2 years old), with a mean follow-up of 64.2 ± 47.9 months (12-156 months). The ES could be further divided into three types: balance-related ES, complication-related ES, and separated ES. There were three balance-related ESs, six complication-related ESs, and four separated ESs. At the last follow-up, six patients were under observation, six patients underwent brace treatment, and one patient underwent revision surgery. Multivariate logistic analysis showed that the magnitude of postoperative compensatory curve (CC) was an independent risk factor for ES (OR = 1.172, p = 0.014). CONCLUSIONS: ES is an extraordinary phenomenon after HV resection and short fusion, and it can be divided into three types. The magnitude of postoperative CC was an independent risk factor for ES. According to the severity of ES, observation, brace, or surgery can be chosen.

Awareness of Current Surgical Practice for Congenital Scoliosis and Optimal Timing of Treatment Among Physicians and Patients' Families in Saudi Arabia.

BACKGROUND: Congenital scoliosis (CS) is a developmental spinal deformity characterized by an abnormal curvature of the spine, affecting one in 1,000 births. The mainstay of treatment involves either observation or surgery in significant curve progression. The optimal timing of surgical intervention is debated, with early intervention preferred. Therefore, understanding physicians' and patients' families' perspectives is crucial for optimizing surgical outcomes in CS. OBJECTIVE: To assess the awareness and knowledge of physicians and patients' families regarding current, as well as new surgical practices and the optimal timing of treatment for CS. METHODS: A cross-sectional study was conducted in Saudi Arabia using an online self-administered questionnaire distributed through social media platforms and neurosurgery clinics. Levels of awareness were assessed by a knowledge-scoring system. RESULTS: The study involved 403 participants, primarily patients' families (85.1%, N = 343) and physicians (14.9%, N = 60). The results show that physicians had a significantly higher correct response than patients' families regarding the ideal age for surgical correction of CS, the timing of surgical intervention whether before or after maturity, and the role of conservative management, as evident from statistically significant p-values of <0.001, 0.031, and <0.001, respectively. On the contrary, patients' families excelled in understanding interventions irrespective of symptomatic status if Cobb's angle is 40 degrees or above, with a statistically significant p-value of 0.031. Both groups exhibited a good level of overall knowledge, as evidenced by mean awareness scores of 12.18 and 11.64, respectively. Additionally, physicians had a statistically significant higher level of awareness compared to patients' families, with a p-value of (0.014). However, both groups demonstrated poor knowledge of the latest techniques, including distraction-based magnetically controlled growing rods (MCGRs), growth-guided modern Luque trolleys, and posterior dynamic deformity correction (ApiFix). CONCLUSION: The mean awareness score of both physicians and patients' families indicates a good level of knowledge. However, both groups exhibited poor knowledge in relation to the optimal timing of treatment and new surgical techniques.

Planar cell polarity zebrafish models of congenital scoliosis reveal novel underlying defects in notochord morphogenesis.

Congenital scoliosis (CS) is a type of vertebral malformation whose etiology remains elusive. The notochord is pivotal for vertebrae development but its role in CS is still understudied. Zebrafish knockout of ptk7a, a planar cell polarity (PCP) gene that is essential for convergence and extension (C&E) of the notochord, developed congenital scoliosis-like vertebral malformations (CVM). Maternal zygotic ptk7a mutants displayed severe C&E defects of the notochord. Excessive apoptosis occurred in the malformed notochord, causing a significantly reduced number of vacuolated cells, and compromising the mechanical properties of the notochord. The latter manifested as a less stiff extracellular matrix along with a significant reduction in the number of the caveolae and severely loosened intercellular junctions in the vacuolated region. These defects led to focal kinks, abnormal mineralization, and CVM exclusively at the anterior spine. Loss of function of another PCP gene, vangl2, also revealed excessive apoptosis in the notochord associated with CVM. This study suggests a new model for CS pathogenesis that is associated with defects in notochord C&E and highlights an essential role of PCP signaling in vertebrae development.

Analyzing Risk Factors for Delayed Extubation Following Posterior Approach Surgery for Congenital Scoliosis: A Retrospective Cohort Study.

STUDY DESIGN: Retrospective cohort study. OBJECTIVES: Investigate the risk factors for delayed extubation after posterior approach orthopedic surgery in patients with congenital scoliosis. METHODS: The clinical data of patients who received surgery for congenital scoliosis at the First Affiliated Hospital of Xinjiang Medical University between January 2021 and July 2023 have been gathered. Patients are categorized into the usual and the delayed extubation groups, depending on the duration of tracheal intubation after surgery. The study employs univariate and multivariate logistic regression models to examine the clinical characteristics of the two cohorts and discover potential risk factors linked to delayed extubation. In addition, a prediction model is created to visually depict the significance of each risk factor in terms of weight according to the nomogram. RESULTS: A total of 119 patients (74.8% females), with a median age of 15 years, are included. A total of 32 patients, accounting for 26.9% of the sample, encountered delayed extubation. Additionally, 13 patients (10.9%) suffered perioperative complications, with pneumonia being the most prevalent. The multivariate regression analysis revealed that the number of osteotomy segments, postoperative hematocrit, postoperative Interleukin-6 levels, and weight are predictive risk factors for delayed extubation. CONCLUSIONS: Postoperative hematocrit and Interleukin-6 level, weight, and number of osteotomy segments can serve as independent risk factors for predicting delayed extubation, with combined value to assist clinicians in evaluating the risk of delayed extubation of postoperative congenital scoliosis patients, improving the success rate of extubation, and reducing postoperative treatment time in the intensive care unit.

Comparative analysis of early versus late surgical intervention for lumbosacral hemivertebra: a minimum 2-year follow-up retrospective study.

BACKGROUND CONTEXT: Lumbosacral hemivertebra (LSHV) is a complex and unique congenital spinal deformity characterized by early severe trunk imbalance and progressive compensatory curve. Previous studies have proved the efficiency of posterior LSHV resection. However, the optimal timing for surgical intervention of LSHV still remains controversial. Few studies compare the surgical outcomes in patients of different age groups. PURPOSE: To evaluate the influence of posterior-only LSHV resection surgery timing on clinical and radiographic results. STUDY DESIGN: Retrospective analysis. PATIENT SAMPLE: We retrospectively analyzed 58 LSHV patients undergoing posterior-only LSHV resection with short-segment fusion at our institution between 2010 and 2020, with a mean follow-up of 7.5 years. OUTCOME MEASURE: The following data were observed for all cases: patient demographics, clinical outcomes measured by operating time, intraoperative blood loss, complications, and Health-Related Quality of Life, radiographic parameters included Cobb angles, trunk shift and sagittal spinal parameters. METHODS: From 2010 to 2020, a consecutive series of 58 LSHV patients treated by posterior LSHV resection with short segmental fusion were investigated retrospectively, with a 7.5-year average follow-up period. Patients were stratified into 2 groups based on the timing of surgery: Group E (≤6 years old, representing the early-surgery) and Group L (>6 years old, representing the late-surgery). Radiographic assessments included pre- and postoperative measurements of main scoliosis, compensatory scoliosis, trunk shift, and sagittal balance parameters. Operative data, perioperative complications and SRS-22 questionnaires were also collected. RESULTS: Compared to Group L, Group E exhibited a lower intraoperative blood loss (p<.001), higher final main curve correction rate (p=.037), smaller post-op compensatory curve (p=.031), higher sagittal vertical axis correction rates at immediate post-op (p=.045) and last follow-up (p=.027), and lower implant failure complications incidence (p=.006). CONCLUSION: This study suggested that early surgical intervention in LSHV patients can achieve better correction outcomes, while reducing blood loss and postoperative complications in a large-scale cohort.

Current Concepts in the Treatment of Early Onset Scoliosis.

Despite many surgical advances in the treatment of early onset scoliosis (EOS) over the past two decades, this condition remains a challenge to address. While otherwise healthy children can have EOS, many of these patients have complicated comorbidities making proper treatment algorithms extraordinarily difficult. Non-operative measures can be successful when initiated early, but are many times utilized as a delay tactic until growth-friendly operative procedures can be safely performed. This article will summarize the current concepts in the treatment of EOS with a focus on the surgical advances that have recently been made.

Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract.

Background: Congenital scoliosis and congenital anomalies of the kidney and urinary tract are distinct genetic disorders with differing clinical manifestations. Clinically, their coexistence is not rare, but the etiologies of these complex diseases remain largely unknown, especially their shared genetic basis. Methods: We sequenced the genomes of 40 individuals diagnosed with both CS and CAKUT, alongside 2,764 controls from a Chinese Han population cohort. Our analyses encompassed gene-based and pathway-based weighted rare variant association tests, complemented by copy number variant association analyses, aiming to unravel the shared genomic etiology underlying these congenital conditions. Results: Gene-based analysis identified PTPN11 as a pivotal gene influencing both skeletal and urinary system development (P = 1.95E-21), participating in metabolic pathways, especially the MAPK/ERK pathway known to regulate skeletal and urinary system development. Pathway-based enrichment showed a significant signal in the MAPK/ERK pathway (P = 3E-04), reinforcing the potential role of PTPN11 and MAPK/ERK pathway in both conditions. Additionally, CNV analysis pinpointed IGFLR1 haploinsufficiency as a potential influential factor in the combined CS-CAKUT phenotypic spectrum. Conclusion: This study enriches our understanding of the intricate genomic interplay underlying congenital scoliosis and kidney and urinary tract anomalies, emphasizing the shared genetic foundations between these two disorders.

Evaluation of the efficacy of posterior hemivertebrectomy combined with two or more segments fusion.

BACKGROUND: Although early hemivertebra (HV) resection and short fusion (within 4 segments) have been successful in treating congenital HV, there is limited research comparing the outcomes of the shortest-segment fusion (2 segments) versus 3 or 4 segments, particularly in young children. To evaluate the efficacy of posterior hemivertebrectomy combined with two or more segments fusion in children under the age of 10 years with a solitary simple lower thoracic or lumbar HV (T8-L5). METHODS: This retrospective study included patients under the age of 10 with lower thoracic or lumbar solitary simple HV who underwent hemivertebra resection (HVR) and transpedicular short fusion and were divided into HV ± 1 group (2 segment fusion) and HV ± 2 group (3 or 4-segment fusion). The study recorded preoperative, postoperative (1 week), and the latest follow-up radiographic parameters and complications. The results of the coronal and sagittal planes were analyzed, and the main curve, segmental scoliosis curve, compensatory scoliosis curve, segmental kyphosis curve, and trunk shift were compared. RESULTS: The study included 35 patients (15 in the HV ± 1 group and 20 in the HV ± 2 group) with a mean age of 5.26 ± 2.31 years and a mean follow-up of 22.54 months (12-68). The mean preoperative Cobb angle was 32.66° ± 7.339° (HV ± 1) and 29.31°±6.642° (HV ± 2). The final Cobb angle was 10.99°± 7.837° (HV ± 1) and 8.22° ± 4.295° (HV ± 2). The main curve corrected by 72% (HV ± 1), 75% (HV ± 2) postoperatively and 67% (HV ± 1), 72% (HV ± 2) at the final follow-up (P > 0.05). There were no significant differences in the correction of the segmental scoliosis curve, compensatory scoliosis curve, segmental kyphosis curve, and trunk shift between the HV ± 1 and HV ± 2 groups (P > 0.05). The unplanned reoperation rate for HV in the thoracolumbar region (T11-L2) is significantly higher (P = 0.038). CONCLUSION: In the context of solitary simple lower thoracic or lumbar HV (T8-L5), HV ± 1 segment fusion suffices and yields comparable correction outcomes in the midterm period when compared to HV ± 2. The reoperation rate exhibited a statistically significant increase in the thoracolumbar region.

Enhanced recovery after surgery in children with congenital scoliosis.

To assess the impact of Enhanced Recovery After Surgery (ERAS) protocol in children undergoing corrective surgery for congenital scoliosis. A retrospective analysis was conducted on children undergoing surgical correction for congenital scoliosis, with participants categorized into either the ERAS group or the control group. Comparative evaluations were made across clinical, surgical, laboratory, and quality of life parameters. Following propensity score matching, 156 patients were analyzed. Within the initial 3 days following surgery, the ERAS cohort demonstrated lower pain intensity and exhibited higher daily oral intake compared to their counterparts in the control group. A mere 14.1% of patients in the ERAS group experienced a peak body temperature exceeding 38.5°, illustrating a significantly lower incidence compared to the 33.3% recorded in the control group. The ERAS cohort displayed expedited timeframes for the onset of initial bowel function and postoperative discharge when contrasted with the control group. Levels of IL-6 assessed on the third day post-surgery were markedly reduced in the ERAS group in comparison to the control group. Noteworthy is the similarity observed in postoperative hemoglobin and albumin levels measured on the first and third postoperative days between the two groups. Assessments of quality of life using SF-36 and SRS-22r questionnaires revealed comparable scores across all domains in the ERAS group when juxtaposed with the control cohort. ERAS protocol has demonstrated a capacity to bolster early perioperative recovery, alleviate postoperative stress responses, and uphold favorable quality of life outcomes in children undergoing corrective surgery for congenital scoliosis.

Factors Associated With Unplanned Readmissions and Prolonged Length of Stay in Patients Undergoing Primary Fusion for Congenital Scoliosis.

BACKGROUND: Approximately 50% of patients with congenital scoliosis will require surgical treatment to prevent further progression. Outcomes following congenital scoliosis are sparse in the literature. The purpose of this study was to identify independent risk factors associated with unplanned readmission and prolonged length of stay (LOS) in patients undergoing primary surgical treatment for congenital scoliosis. METHODS: The National Surgical Quality Improvement Database-Pediatric was queried for database years 2016-2018 to identify patients with congenital scoliosis who underwent primary posterior fusion of the spine. Patient demographics, comorbidities, and operative variables, such as the number of levels fused and the American Society of Anesthesiologists (ASA) classificaiton, were collected. Univariate and multivariate analyses of patient factors were performed to test for association with readmission within 30 days and prolonged LOS (>4 days). RESULTS: Eight hundred sixteen patients were identified. The average age was 11.3 ± 4.02 years, and the mean postoperative LOS was 4.64 ± 3.71 days. Forty-three patients (5.40%) were readmitted, and 73 patients (8.96%) had prolonged LOS. Independent risk factors associated with prolonged LOS included chronic lung disease (P < 0.001), presence of a tracheostomy (P < 0.001), structural central nervous system abnormality (P = 0.039), oxygen support (P < 0.001), and number of levels fused (P = 0.008). The factors independently associated with unplanned readmission were fusion to the pelvis (P = 0.004) and LOS >4 days (P = 0.008). CONCLUSIONS: Prolonged LOS and readmission are widely being used as quality and performance metrics for hospitals. Congenital scoliosis, which often progresses rapidly resulting in significant deformity, frequently requires surgery at an earlier age than idiopathic and neuromuscular deformity. Nevertheless, 30-day outcomes for surgical intervention have not been thoroughly studied. The present study identifies risk factors for prolonged LOS and readmission, which can facilitate preoperative planning, patient/family counseling, and postoperative care. CLINICAL RELEVANCE: Congenital scoliosis management poses certain challenges that may be mitigated by understanding the risk factors for adverse outcomes following primary fusion surgery.

Presence of compensatory curve predicts postoperative curve progression in congenital scoliosis after thoracolumbar hemivertebra resection and short fusion.

PURPOSE: To investigate the impact of preoperative compensatory curve on the postoperative curve progression in congenital scoliosis (CS) patients following thoracolumbar hemivertebra (HV) resection and short fusion. METHODS: This study retrospectively reviewed a consecutive cohort of patients with CS who underwent thoracolumbar HV resection and short fusion with a minimum of 2 years follow-up. According to the preoperative curve pattern, patients were divided into compensatory curve group non-compensatory curve group. Based on the postoperative coronal curve evolution, patients were further divided into the progressed group (Group P, with curve decompensation ≥ 20°) and the non-progressed group (Group NP, characterized by well-compensated curves). RESULTS: A total of 127 patients were included in this study, with 31 patients in the compensatory curve group and 96 patients in the non-compensatory curve group. The incidence of postoperative coronal curve progression was significantly higher in the compensatory curve group than that in non-compensatory curve group (35.5% vs. 13.5%, p = 0.007). In the compensatory curve group, patients who experienced postoperative curve progression showed fewer fusion segments (p = 0.001), greater preoperative UIV translation (p = 0.006), greater preoperative LIV tilt (p = 0.017), and larger postoperative UIV tilt (p < 0.001) compared with patients in group NP. Multiple logistic regression demonstrated that the shorter fusion segments and greater postoperative UIV tilt were two independent risk factors for postoperative curve progression. CONCLUSION: The presence of the compensatory curve was associated with a higher incidence of postoperative curve progression in patients with CS who underwent thoracolumbar HV resection and short fusion. Shorter fusion segments and greater postoperative UIV tilt were found to be the risk factors for postoperative curve progression.

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

BACKGROUND: TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance. METHODS: We here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6. RESULTS: WES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman. CONCLUSIONS: This study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.

Influence of blood loss on cerebral oxygen saturation in paediatric patients undergoing surgery for scoliosis correction: A retrospective observational study.

AIM: Surgery for congenital scoliosis correction in children is often associated with considerable blood loss. Decrease in regional oxygen saturation (rScO2) can reflect insufficient cerebral perfusion and predict neurological complications. This retrospective observational study explored the relationship between blood loss during this surgery and a decrease in rScO2 in children. METHODS: The following clinical data of children aged 3-14 years who underwent elective posterior scoliosis correction between March 2019 and July 2021 were collected: age, sex, height, weight, baseline rScO2, basal mean invasive arterial pressure (MAP), preoperative Cobb angle, number of surgical segments, preoperative and postoperative haemoglobin level, percentage of lowest rScO2 below the baseline value that lasted 3 min or more during the operation (decline of rScO2 from baseline, D-rScO2%), intraoperative average invasive MAP, end-tidal carbon dioxide pressure, fluid infusion rate of crystalloids and colloids, operation time, and percentage of total blood loss/patient's blood volume (TBL/PBV). RESULTS: A total of 105 children were included in the study. Massive haemorrhage (TBL/PBV ≥50%) was reported in 53.3% of patients, who had significantly higher D-rScO2 (%) (t = -5.264, P < 0.001) than those who had non-massive haemorrhage (TBL/PBV <50%). Multiple regression analysis revealed that TBL/PBV (ß = 0.04, 95% CI: 0.018-0.062, P < 0.05) was significantly associated with D-rScO2%. CONCLUSIONS: Intraoperative massive blood loss in children significantly increased D-rScO2%. Monitoring should be improved, and timely blood supplementation should be performed to ensure maintenance of the blood and oxygen supply to vital organs, improve the safety of anaesthesia, and avoid neurological complications.

Biomechanical effects of different instrumented segments and trunk shifts on distal adjacent segments after congenital scoliosis posterior hemivertebrectomy: Preliminary results of a single case.

Objective: The present study aims to discuss the biomechanical effects of the sagittal vertical axis and different instrumented segments on distal adjacent segments after congenital scoliosis posterior hemivertebrectomy. Method: A case of congenital scoliosis caused by hemivertebra was selected for the reconstruction of the preoperative and postoperative 3D computed tomography data of the full spine. A finite element model of different fusion lengths and postoperative trunk shift (TS) values was established using the finite element method to compare the biomechanical effects of different models on the distal adjacent segment. Result: In the L1-L3 and T12-L1-L3-L4 fusion modes, the horizontal shift of the 1st vertebra below the lowest instrumented vertebra (LIV) increased with the trunk shift (TS) expansion after operation, and the imbalance between the left and right vertical stress of the 1st intervertebral disc below the LIV increased. With the decrease in fused segments in cases of TS = 10 mm and TS = 5 mm, the 1st vertebra below the LIV was subjected to a greater unbalanced force in the horizontal direction, and the 1st intervertebral disc below the LIV was subjected to a smaller imbalance between the left and right vertical stress after operation. Conclusion: When treating congenital scoliosis with hemivertebrectomy and pedicle screw fixation, fused segments can be properly extended and the postoperative TS shortened with a view of reducing the imbalance between the left and right stress of the 1st intervertebral disc below the LIV as well as the horizontal shift of the 1st vertebra below the LIV.

Comparison of traditional growth rods and magnetically controlled growing rods in early-onset scoliosis: a case-matched mid term follow-up study.

PURPOSE: Early-onset scoliosis (EOS) has always been a challenging situation for spine surgeons. The aim of treatment is to control the direction of curve progression to allow for the complete development of lungs. Among all the growth constructs available, traditional growth rods (TGR) and magnetically controlled growth rods (MCGR) are most widely used. The MCGR has been introduced a few years back and there is a dearth of long-term follow-up studies. The purpose of this study is to compare the effectiveness of TGR and MCGR for the treatment of EOS. METHODS: All patients of EOS managed with either TGR or MCGR were included in the study. The patients managed with other methods or having follow-up < 2-years were excluded from the study. A total of 20 patients were recruited in the MCGR group and 28 patients were recruited in the TGR group. Both groups were matched by etiology, gender, pre-operative radiological parameters, and complications including unplanned surgeries. RESULTS: The mean age in our study was 7.90 years in the MCGR group and 7.46 years in the TGR group. The mean duration of follow-up in the MCGR group was 50.89 months and in the TGR group 94.2 months. Pre-operative cobb's angle in the coronal plane and T1-S1 were comparable in both groups with a mean cobb's angle of 65.4 in MCGR and 70.5 in TGR. The mean T1-S1 length in the MCGR group was 36.1cms and in the TGR group was 35.2 cms (p = 0.18). The average increase in T1-S1 length was 1.3 cm/year in the TGR group and 1.1 cm/year in the MCGR group (p > 0.05). The TGR patients underwent 186 open lengthening surgeries and 11 unplanned surgeries for various complications. The MCGR group has 180 non-invasive lengthening with only 4 unplanned returns to OT for various causes. CONCLUSION: The curve correction was similar in both TGR and MCGR groups. The average T1-S1 length achieved on final follow-up was similar in both groups. The MCGR patients have attained similar correction with fewer invasive procedures and lesser complications compared to the TGR group.

Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt/ß-catenin signaling has been implicated in somite development, the function of Wnt/planar cell polarity (Wnt/PCP) signaling in this process remains unclear. Here, we investigated the role of Vangl1 and Vangl2 in vertebral development and found that their deletion causes vertebral anomalies resembling human CVMs. Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in VANGL1 and VANGL2, many of which exhibited loss-of-function and dominant-negative effects. Zebrafish models confirmed the pathogenicity of these variants. Furthermore, we found that Vangl1 knock-in (p.R258H) mice exhibited vertebral malformations in a Vangl gene dose- and environment-dependent manner. Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients, providing insights into the molecular mechanisms underlying this disorder.

Delayed presentation of Wilkie's syndrome after scoliotic curve correction surgery: a case report.

BACKGROUND: Superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, is a rare but serious complication following scoliosis correction surgery. It occurs as a result of mechanical compression of third part of duodenum between the SMA and aorta. This condition occurs most commonly in significantly underweight patients with deformities, and usually during the first week following spinal deformity corrective surgeries. The angle between the abdominal aorta and the SMA gets reduced following spinal lengthening during deformity correction surgery causing compression of third part of duodenum resulting in development of SMA syndrome. CASE PRESENTATION: We present a case of 17-year-old male with congenital scoliosis with a 70-degree scoliotic curve who underwent spinal deformity correction surgery with posterior instrumented fusion. Post-operative course was uneventful and the patient was discharged after suture removal on post-operative day 15. The patient presented after 21-days of symptom onset on post-operative-day 51, with a 3 week history of post-prandial vomiting, abdominal pain and distension which resulted in rapid weight loss of 11 kg. A CT-angiogram showed obstruction at third part of duodenum. After reviewing clinical and radiological profile of the patient, a diagnosis of SMA syndrome was made. Conservative management was tried, but due to rapid deterioration of patient condition and symptoms of complete intestinal obstruction, the patient was treated surgically by gastro-jejunostomy and side-to-side jejuno-jejunostomy, which improved his condition. CONCLUSION: SMA syndrome can occur much later than previously reported cases and with potentially life-threatening symptoms following scoliosis correction. Having a high index of suspicion, early recognition of condition and institution of appropriate treatment are essential to prevent occurrence of severe complications including risk of intestinal perforation and mortality. This case highlights management of delayed onset of SMA syndrome, with presentation further delayed after symptom onset, as is common in developing parts of the world, due to limited availability and accessibility of resources, and low socio-economic status of large segments of the population.

Butterfly Vertebra: A Retrospective Study of 30 Patients.

BACKGROUND: Butterfly vertebra (BV) is a rare congenital spinal anomaly for which there is a paucity of large-scale retrospective studies and established guidelines for treatment. The objective of this study was to elucidate the clinical characteristics, imaging findings, and therapeutic approaches for BV. METHODS: We conducted a retrospective analysis of 30 patients diagnosed with BV at our hospital from 2009 to 2023, examining clinical data, imaging findings, and clinical interventions. RESULTS: The analysis comprised a cohort of 30 patients, consisting of 15 males and 15 females, with a mean age of 27.63 ± 19.84 years. Imaging studies indicated that the majority of vertebral bodies affected by BV were single-segmented (63.3%, 19/30) and less commonly multi-segmented (36.7%, 11/30). These findings frequently coexisted with other medical conditions, most notably spinal scoliosis (76.7%, 23/30). Furthermore, the study identified a range of spinal abnormalities among patients, including hemivertebral deformity (30.0%, 9/30), spinal cleft (10.0%, 3/30), lumbar disc protrusion or herniation (10.0%, 3/30), vertebral slippage (10.0%, 3/30), thoracic kyphosis deformity (6.67%, 2/30), vertebral fusion deformity (6.67%, 2/30), compressive fractures (3.3%, 1/30), and vertebral developmental anomalies (3.3%, 1/30). Clinical intervention resulted in symptom relief for 23 nonsurgical patients through lifestyle modifications, analgesic use, and physical therapy. Seven surgical patients underwent appropriate surgical procedures, leading to satisfaction and adherence to regular postoperative follow-up appointments. CONCLUSIONS: BV is a rare vertebral anomaly that can be easily misdiagnosed due to its similarity to other diseases. Consequently, it is imperative to enhance vigilance in the differential diagnosis process in order to promptly recognize BV. Furthermore, in cases where patients present with additional associated radiographic findings, a thorough evaluation is typically warranted and timely measures should be taken for treatment.

Correction of a congenital kyphoscoliosis associated with diastematomyelia.

Congenital scoliosis is one of the most common deformities of the spine in children. Intraspinal anomalies are always accompanied with congenital scoliosis. Diastematomyelia is one of the most common intraspinal pathologies in congenital scoliosis. To date, there is no standard method for correcting the congenital spinal deformity associated with diastematomyelia. We present a clinical case of simultaneous correction of congenital scoliosis by an internal corrector with excision of diastematomyelia. The patient tolerated the surgery well without any complications. She was discharged home with improved symptoms without need for additional therapy. The patient's guardians consented to the procedure and to the publication of her image.

Fusion mass to pelvis internal distraction technique using multiple-hook fixation for scoliosis correction: illustrative case.

BACKGROUND: Internal distraction rods have been described as an alternative to halo gravity traction for the treatment of severe scoliosis. Distraction rods can be challenging to use in patients with existing fusion masses. The authors report an internal distraction, construct-to-construct rod technique using multiple-hook fixation in a patient with a sharply angulated cervicothoracic scoliosis fusion mass. OBSERVATIONS: A 12-year-old female with previously diagnosed congenital scoliosis who had undergone cervical fusion in situ at age 2 presented to the clinic with shortness of breath exacerbated by increased levels of activity. Standing anteroposterior and lateral scoliosis radiographs revealed a left >150° cervicothoracic curve, right 140° thoracolumbar curve, and left 28° lumbosacral fractional curve with pelvic obliquity. The authors indicated this patient for a 3-stage all-posterior approach for spinal fusion and deformity correction. In the final fusion surgery, the authors set up a construct-to-construct internal distraction configuration connecting the left hemipelvis to the cervicothoracic fusion mass to aid in deformity correction. LESSONS: A construct-to-construct internal distraction rod technique connecting a fusion mass to the pelvis can assist with curve correction in severe scoliosis.