Search Results (37)

Background: Congenital thoracic kyphoscoliosis caused by vertebral malformations is a challenging condition that may progress during skeletal growth, leading to spinal imbalance, pain, cosmetic deformity, and neurological compromise. Conventional correction often requires extensive anterior, posterior, or combined approaches associated with substantial surgical morbidity. We describe a single-position surgical technique combining a lateral retropleural asymmetric vertebral resection with percutaneous posterior instrumentation performed entirely in the lateral decubitus position. Methods: A 15-year-old boy with progressive congenital thoracic kyphoscoliosis secondary to a T10 butterfly vertebra underwent surgical correction after failure of conservative treatment. The procedure was performed entirely in the left lateral decubitus position under multimodal intraoperative neurophysiological monitoring. Bilateral percutaneous pedicle screws were inserted from T7 to L1 under fluoroscopic guidance without repositioning the patient. A muscle-sparing lateral retropleural approach was then used to perform T10 asymmetric vertebral column resection, anterior column reconstruction with an expandable cage, and definitive deformity correction using posterior rod compression. The technical rationale, operative workflow, and reconstruction strategy are described. Results: The procedure was completed without intraoperative neurological deterioration or the need for patient repositioning. Postoperative imaging demonstrated satisfactory restoration of coronal and sagittal alignment, appropriate implant positioning, and spinal canal decompression. The patient experienced marked improvement in pain, shoulder balance, rib hump deformity, and overall posture while maintaining normal neurological function. The main thoracic curve improved from 32° to 6°, thoracic kyphosis from 78° to 63°, VAS from 5 to 0, ODI from 42 to 5, and SRS-22R from 3.85 to 4.85. Solid fusion was confirmed at 3 years. A postoperative pneumothorax, attributed to pleural violation during exposure, represented the only complication and resolved completely following pleural drainage. At 36-month follow-up, radiographs and computed tomography confirmed maintenance of deformity correction, stable instrumentation, and solid anterior and posterior fusion without implant failure or loss of correction. Conclusions: Single-position lateral retropleural asymmetric vertebral resection combined with percutaneous pedicle screw fixation is a technically feasible option for selected patients with congenital thoracic kyphoscoliosis. Avoiding intraoperative repositioning while combining anterior reconstruction and posterior stabilization through a reduced-access retropleural approach may simplify the surgical workflow and minimize soft-tissue disruption without compromising deformity correction. Further clinical experience is required to establish its reproducibility and comparative advantages. Full article

Background: Vertebral column resection (VCR) has historically been recognized as the most efficacious corrective intervention for severe rigid spinal deformities. Nevertheless, advancements in preoperative optimization, staged corrective methodologies, osteotomies, and contemporary instrumentation have broadened the spectrum of therapeutic options available. The definitive role of VCR in the modern management of rigid congenital spinal deformities remains a topic of ongoing scholarly discourse. Methods: This study presents two illustrative cases of severe congenital spinal deformities that were addressed employing various surgical methodologies, alongside a comprehensive review of the current literature pertaining to VCR and less invasive alternatives, including halo-gravity traction (HGT), temporary internal distraction techniques, pedicle subtraction osteotomy (PSO), asymmetric pedicle subtraction osteotomy (APSO), and multi-rod constructs. Results: The cases elucidated herein underscore the necessity for treatment strategies to be tailored specifically to the characteristics of the deformity, its flexibility, the neurological risks involved, and the individual patient’s specific attributes. In one case, significant deformity correction achieved via preoperative HGT facilitated successful management through multilevel Ponte osteotomies and posterior spinal fusion, thereby obviating the need for VCR. In other patient suffering from severe rigid congenital kyphotic deformity with pronounced anterior column deficiencies, VCR was deemed essential to realize adequate correction and neural decompression. All patients exhibited substantial radiographic correction, enhancements in health-related quality-of-life metrics, diminished disability and pain, while maintaining correction without neurological complications or implant failure at the final follow-up evaluation. Conclusions: VCR continues to be a vital element within the surgical repertoire for the treatment of severe rigid spinal deformities; however, it should not be deemed obligatory in every instance. Diligent preoperative evaluation, staged correction methodologies, and less invasive osteotomy techniques may permit satisfactory correction while mitigating surgical morbidity in suitably selected patients. Treatment approaches should be customized, favoring the least invasive procedure capable of achieving safe and lasting correction whenever practicable. Full article

Objective: To describe the surgical technique and early clinical outcomes of prone-transpsoas single-position corpectomy (PTP-corpectomy) for the management of complex thoracolumbar spinal pathology. Background: PTP-corpectomy is an emerging technique for providing simultaneous lateral and posterior spinal access without patient repositioning. The previous literature describes the PTP approach for interbody fusions; however, evaluation of its use for corpectomy is limited. This case series reports our experience with the PTP-corpectomy procedure at our institution. Methods: We retrospectively reviewed seven patients who underwent PTP-corpectomy surgery for complex spinal pathologies, including severe kyphoscoliosis, traumatic burst fractures, and revision in 2022–2025. Collected variables included demographics, comorbidities, surgical history, perioperative details, radiographic imaging, and clinical outcomes. Results: All seven patients successfully underwent PTP-corpectomy. The average operative time was 460.6 ± 147.1 min, and the estimated blood loss (EBL) was 892.9 ± 898.3 mL. Average length of stay (LOS) postoperatively was 6.7 ± 3.0 days. One case required revision of a preexisting construct and complex wound closure with plastic surgery, which had significantly increased operative time and blood loss (767 min, 2700 mL). Excluding this complicated case, the average time was 409 ± 63.7 min, and EBL was 591.7 ± 454.3 mL. All seven patients maintained clinical stability postoperatively, demonstrating improvements in pain and functional status at latest follow-up. Follow-up time ranged from 41 to 375 days. Conclusions: Our experience adds to the limited body of evidence that the PTP approach is well suited for corpectomy procedures, and that it is feasible, safe, and effective at improving clinical outcomes for complex spinal pathologies. This series adds to the limited case volume describing this technique in the current literature. Future studies with larger patient populations are warranted to further validate these findings. Full article

Abnormal vertebral column curvature is sporadically reported in koalas of the Mount Lofty Ranges, South Australia. This study evaluates the imaging features of 23 koalas from the Mount Lofty Ranges presenting with abnormal vertebral column curvature between 2015 and 2023 using digital radiography and computed tomography (CT). All images were evaluated by four reviewers to assess curve morphology, severity and Cobb angles for both scoliosis and kyphosis. For Cobb angle measurement, radiography performed similarly to CT with good agreement as measured by intraclass correlation coefficient (0.835 and 0.825 respectively) and Lin’s concordance correlation coefficient (>0.85). The apex vertebra was always located between T7 and L6. For both scoliosis and kyphosis apex vertebrae, the thoracolumbar region was the most common location (8/22 and 9/19, respectively). For scoliosis, the caudal thoracic and lumbar regions were equally common (7/22 each), whereas for kyphosis, the caudal thoracic region (7/19) was more frequent than the lumbar region (3/19). Vertebral body rotation was a common component particularly in severely affected individuals, in which complex or ‘S’ shaped curves also occurred. Severity ranged from minimal or mild (6/23) to moderate (5/23) and severe (12/23), with simultaneous kyphosis and scoliosis present most frequently (21/23). As a result, the term, kyphoscoliosis is the most appropriate morphological description for abnormal vertebral curvature in koalas and may have pathophysiologic commonalities with human idiopathic scoliosis. This study is the first to describe imaging features of abnormal vertebral column curvature in koalas and evaluate inter-modality and interobserver agreement between radiography and CT. Full article

Background/Objectives: To identify distinct sonographic phenotypes of complex malformations of the fetal ventral wall. Methods: We performed a retrospective analysis of ultrasound reports from 160 fetuses diagnosed with complex ventral wall defects at a single tertiary referral center between 1997 and 2021. Agglomerative hierarchical clustering was applied to identify distinct sonographic phenotypes based on the level of the ventral wall defect and associated anomalies. Results: Ventral wall defects involved the abdominal wall in 150 cases, the thoracic wall in 42 cases, and the pelvic wall in 28 cases, either in isolation or in combination. Open neural tube defects were present in 58 fetuses (36.3%), spinal defects in 110 fetuses (68.8%), and limb anomalies in 45 fetuses (28.1%). Additional anomalies were identified in 38 fetuses (23.8%), including cardiac anomalies in 18 cases (11.3%). Amniotic bands were observed in seven cases (4.4%). Using agglomerative hierarchical clustering, five groups of fetuses with differing numbers of observations were identified (cluster 1, n = 104; cluster 2, n = 5; cluster 3, n = 30; cluster 4, n = 10; cluster 5, n = 11). The silhouette score of the clustering model was 0.3285. The most discriminative features for each cluster, expressed as feature importance values, were as follows: kyphoscoliosis for cluster 1 (0.924), pelvic wall defect for cluster 2 (0.852), ectopia cordis for cluster 3 (0.662), limb anomalies for cluster 4 (0.767), and spina bifida for cluster 5 (0.691). Conclusions: Complex malformations of the fetal ventral wall are associated with a wide spectrum of additional anomalies. Hierarchical clustering identified five distinct sonographic phenotypes of complex ventral wall defects, highlighting the heterogeneity of these conditions. Full article

Metatropic dysplasia is an autosomal dominant skeletal disorder characterized by progressive kyphoscoliosis, severe platyspondyly, pronounced metaphyseal enlargement, and shortening of the long bones. This condition is caused by pathogenic variants in the TRPV4 (Transient Receptor Potential Vanilloid 4) gene, which encodes a non-selective calcium channel involved in bone homeostasis. Variants in TRPV4 have been associated with two major disease groups: skeletal dysplasias and neuropathies, with recent findings indicating an overlap in their clinical features. We report three patients with metatropic dysplasia, each presenting a distinct severity profile. All exhibited a bell-shaped thorax, significant platyspondyly, and shortened long bones with broad metaphyses. Notably, patients 1 and 3 had more complex clinical courses, including seizures and global developmental delay. Genetic analysis revealed two different TRPV4 variants: p.Asn796del (patient 1) and p.Pro799Leu (patients 2 and 3). These cases illustrate variability in extra-skeletal manifestations, complications, and prognosis. In our patients with TRPV4-related disorders, the co-occurrence of neurological symptoms and skeletal abnormalities suggests a clinically heterogeneous spectrum consistent with a single disease rather than distinct entities. A comprehensive, multidisciplinary approach is essential to optimize management and improve the quality of life for patients. Full article

The FOT is a non-invasive method for assessing respiratory mechanics. It enables the measurement of respiratory system impedance by applying pressure oscillations through a loudspeaker at the subject mouth and then studying its deformation, which is commensurate to the resistance opposed by the respiratory system. The main parameters which can be determined with the FOT are the impedance (Z) and the components of respiratory resistance (Rrs) and reactance (Xrs). The FOT has been predominantly applied to the study of respiratory mechanics for research purposes; however, preclinical experiments and subsequently observational clinical studies have demonstrated that FOT can effectively assess airway obstruction, bronchodilator response, bronchial hyperresponsiveness, and the presence of small airways disease. More recently, studies on the FOT in restrictive lung diseases have also been reported. Nonetheless, international guidelines on the precise applications of the FOT in lung diseases are still lacking. The aim of the review was to describe the technical aspects related to the FOT methodology in clinical practice and to provide a concise state of the art on the applications of the FOT in obstructive and restrictive lung diseases. Full article

Invasive aspergillosis (IA) is a life-threatening infection that mainly affects immunocompromised hosts. Cardiac involvement is rare but can be the sole presentation of IA. It is associated with a high mortality rate and mostly occurs in patients with pre-existing cardiac disease. It can also be seen in immunocompetent patients with a structurally normal heart. The reported cases of cardiac involvement are usually due to infectious endocarditis (IE) caused by Aspergillus species (most commonly Aspergillus fumigatus). However, there is limited data on non-valvular cardiac aspergillosis (NVCA). We reviewed 67 cases of NVCA published between 1950–2024 and reported an additional case from our institution involving a 48-year-old female with kyphoscoliosis diagnosed with Aspergillus pericarditis. Full article

Background: Kyphoscoliosis is a restrictive thoracic disorder frequently associated with chronic respiratory failure. While home non-invasive ventilation (NIV) improves short-term outcomes, long-term mortality predictors remain underexplored in this context. Methods: This retrospective cohort study evaluated 88 kyphoscoliosis patients with chronic respiratory failure who were initiated on home-based NIV between 2008 and 2018 at a tertiary ICU outpatient clinic. The demographic, clinical, and laboratory data were analyzed. Survival was assessed using Kaplan–Meier analysis, and independent predictors of mortality were identified via Cox regression. Results: Among the 88 patients (52% male), 28 (32%) died during long-term follow-up. Age, BMI, pulmonary function, and arterial blood gas values were similar between survivors and non-survivors. Non-survivors had significantly higher mMRC dyspnea scores, were more likely to be active smokers, and had a higher prevalence of coronary artery disease (CAD) (p = 0.015). The Kaplan–Meier survival analysis revealed significantly lower survival in patients with CAD (p = 0.021) and active smokers (p = 0.034). Cox regression analysis indicated that the presence of CAD (HR: 5.69, 95% CI: 1.34–24.08, p = 0.018) and hospital admission after the initiation of home-based NIV therapy (HR: 1.97, 95% CI: 1.01–3.85, p = 0.040) increased the risk of mortality. Conversely, a higher pH at the last outpatient visit was associated with improved survival (HR: 0.50, 95% CI: 0.00–0.692, p = 0.003). Conclusions: CAD, pH value, and increased ICU admissions after the initiation of home-based NIV are predictors of mortality in kyphoscoliosis patients. The study results highlight reduced survival associated with the presence of coronary artery disease and smoking, emphasizing the importance of routine cardiovascular assessment and close clinical follow-up in this high-risk population. Full article

Background/Objectives: Surgery for adolescent idiopathic deformities is often aimed at improving aesthetic appearance, striving for the best possible correction. However, severe and rigid scoliotic curves not only present aesthetic issues but can also compromise cardiopulmonary health and cause early neurological impairment due to spinal cord compression, posing significant risks of morbidity and mortality if untreated. Conservative treatments are ineffective for severe curves, defined by scoliotic angles over 70° and flexibility below 30% on lateral bending X-rays. Treatment often requires invasive interventions, such as osteotomies and vertebral resections. In particular, posterior vertebral column resection (PVCR) has shown effectiveness in realigning vertebral structures in complex cases. This study describes the efficacy and risks of PVCR through a series of cases treated at our institution. Methods: This case series was conducted at the Rizzoli Orthopedic Institute in Bologna, involving eight pediatric patients with severe, rigid spinal deformities, operated upon between 2018 and 2023. The underlying pathologies included idiopathic kyphoscoliosis, neurofibromatosis type 1, Pott’s disease, and other congenital anomalies. Preoperative assessment included standard radiographs, magnetic resonance imaging, and computed tomography. During PVCR, motor and sensory evoked potentials were monitored to minimize neurological injury risk. Postoperative management included blood transfusions, antibiotic support, and early physiotherapy. Results: PVCR resulted in an average reduction in the Cobb angle from 86.3° preoperatively to 22.4° postoperatively, with a mean correction of 64%. The mean duration of the procedures was 337.4 min. Three patients had an uneventful postoperative course, while five developed complications, including infections and temporary neurological deficits, which were successfully managed. One patient developed an epidural hemorrhage that required emergency surgery for hematoma evacuation, with partial recovery. This study demonstrates the potential of PVCR for correcting rigid spinal deformities, highlighting the importance of postoperative management to minimize the associated risks. Conclusions: Posterior vertebral resection techniques offer significant promise in the correction of pediatric spinal deformities. Although ours is a small case series, it can provide important data for such treatment. Long-term monitoring is needed to fully understand the impact of these procedures and to further refine surgical techniques. Full article

Background/Objectives: Duchenne muscular dystrophy (DMD) is the most prevalent progressive muscular dystrophy, and the guidelines recommend the regular assessment of respiratory muscle function. This study aimed to assess the relationship between maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) and sniff nasal inspiratory pressure (SNIP) measurements and upright-supine spirometry parameters in children with DMD, the predictability of upright–supine spirometry in terms of diaphragm involvement, and the impact of nutrition on muscle strength. Methods: This prospective cross-sectional study examined patients with DMD by comparing upright and supine FVC, MIP, MEP, and SNIP measurements. The effects of the ambulatory status, kyphoscoliosis, chest deformity, and low BMI on respiratory parameters were investigated. Results: Forty-four patients were included in the study. The mean patient age was 10.8 ± 2.9 years. Twenty-five patients were ambulatory. A significant decrease in FVC, FEV1, and FEF25–75 values was detected in the supine position in both ambulatory and non-ambulatory patients (p < 0.05). All patients had low MIP, MEP, and SNIP measurements (less than 60 cm H₂O). MIP, MEP, and SNIP values were significantly lower in patients with a low BMI than in those without (p < 0.05). Conclusions: To accurately assess respiratory muscle strength, supine FVC should be combined with upright FVC, MIP, MEP, and SNIP measurements. It is crucial to regularly screen patients for nutrition, as this can significantly affect respiratory muscle function during pulmonology follow-up. Full article

The spine community is continuously adding to its armamentarium of intraoperative techniques for visualization and instrumentation of the spine. Recently, three-dimensional printed spine models were introduced for use in preoperative planning, surgical simulation, and intraoperative guidance. We present a 14-year old African male with congenital kyphoscoliosis, small stature, an obvious gibbus deformity and coronal imbalance, who underwent a three-staged posterior surgical correction procedure, during which a 3D-printed spine biomodel was utilized for better appreciation of his complex spinal deformity patho-anatomy. During the first stage of the procedure, he developed diminished lower extremity motor strength bilaterally and bowel/bladder control, but, following his third stage procedure and with focused rehabilitation efforts, he has regained full control of his bowel and bladder function, and is able to ambulate and perform activities of daily living independently, albeit still requiring intermittent walking support with a single forearm crutch due to residual left leg weakness. The 3D spine biomodel functioned successfully as a valuable tool and surrogate anatomic blueprint for the surgeons, enabling adequate appreciation of the complex bony anatomy which could not be easily resolved on the conventionally available imaging modalities, intraoperative navigation or robotic platform. Theoretically, up to $2900 USD in savings, translated from the mean estimated time saved per procedure with the use 3D-printed spine models has been proposed in some studies. Therefore, 3D-printed spine models have utility in complex spinal deformity correction surgery. Full article

Background: Congenital kyphosis is a spinal deformity that arises from the inadequate anterior development or segmentation of the vertebrae in the sagittal plane during the initial embryonic stage. Consequently, this condition triggers atypical spinal growth, leading to the manifestation of deformity. Concurrently, other congenital abnormalities like renal or cardiac defects within the gastrointestinal tract may co-occur with spinal deformities due to their shared formation timeline. In light of the specific characteristics of the deformity, the age range of the patient, deformity sizes, and neurological conditions, surgical intervention emerges as the optimal course of action for such cases. The selection of the appropriate surgical approach is contingent upon the specific characteristics of the anomaly. Case Presentation: This investigation illustrates the utilization of a surgical posterior-only strategy for correcting pediatric congenital kyphoscoliosis through the implementation of a vertebral column resection method along with spine reconstruction employing a mesh cage. The individual in question, a 16-year-old female, exhibited symptoms such as a progressive rib hump, shoulder asymmetry, and back discomfort. Non-invasive interventions like bracing proved ineffective, leading to the progression of the spinal curvature. After the surgical procedure, diagnostic imaging displayed a marked enhancement across all three spatial dimensions. After a postoperative physical assessment, it was noted that the patient experienced significant enhancements in shoulder alignment and rib hump prominence, with no discernible neurological or other adverse effects. Conclusions: Surgical intervention is considered the optimal approach for addressing such congenital anomalies. Typically, timely surgical intervention leads to favorable results and has the potential to halt the advancement of deformity and curvature enlargement. Full article

Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects. Full article

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in STAC3 often present with congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, and susceptibility to malignant hyperthermia provoked by anesthesia. We present two unrelated cases of Bailey-Bloch congenital myopathy descendants of non-consanguineous parents, which were investigated for delayed psychomotor development and generalized weakness. To the best of our knowledge, these are the first descriptions of CMYP13 in Brazil. In both patients, we found the previously described pathogenic missense variant p.Trp284Ser in homozygosity. Conclusion: We seek to highlight the need for screening for CMYP13 in patients expressing the typical phenotype of the disease even in the absence of Lumbee Native American ancestry, and to raise awareness to possible complications like malignant hyperthermia in Bailey-Bloch congenital myopathy. Full article