Surgical treatment for congenital vertebral anomalies with bilateral bifid intrathoracic rib in association: A series of five cases.

Background: Congenital scoliosis is often associated with costal deformities, of which a bilateral bifid intrathoracic rib is very rare. The aim of this study was to retrospectively summarize the clinical manifestations, imaging characteristics, treatment strategies, and postoperative outcomes of five patients with bilateral bifid intrathoracic rib. Methods: We retrospectively reviewed the imaging findings and medical records of five pediatric patients (two girls, three boys) with bilateral bifid intrathoracic rib who were surgically treated for congenital kyphoscoliosis (mean age = 8 years). The clinical manifestations, imaging characteristics, treatment strategies, and postoperative outcome were summarized. Results: Four of five patients showed abnormalities from birth. All five patients presented with kyphoscoliosis and a fused vertebral body or lamina. The bilateral bifid intrathoracic rib was located at T2-3 in three patients, T7 in one patient, and T10 in one patient. Various congenital spinal deformities and multiple system malformations were present in all five patients. Three patients had preoperative neurological deficits. For corrective surgery, one patient received a traditional growing rod implantation, one patient underwent resection of a bony septum, and three patients underwent spinal osteotomy. One patient suffered complete paralysis of the lower limbs after surgery. Conclusion: Bilateral bifid intrathoracic rib is a rare anomaly that typically occurs in patients with serious kyphoscoliosis. Bilateral bifid intrathoracic rib patients show similar clinical and radiological characteristics and are likely to exhibit neurological deficits before or following corrective surgery. Spinal surgeons should be aware of the high risk of permanent neurological complications related to surgery in these patients. Level of evidence: level IV.

First report of kyphoscoliosis in the narrow-ridged finless porpoises (Neophocaena asiaeorientalis): Findings from congenital and degenerative cases comparison using post-mortem computed tomography.

INTRODUCTION: Spinal deformities, including kyphoscoliosis, have been consistently documented in cetaceans. However, the majority of reported cases of kyphoscoliosis in cetaceans pertain to bottlenose dolphins, with limited information on its occurrence in narrow-ridged finless porpoise (NFP) (Neophocaena asiaeorientalis). MATERIALS AND METHODS: In November 2021, two deceased NFPs were discovered stranded on the shores of the Republic of Korea. As part of the pioneer stranded cetacean imaging programme in the Republic of Korea, both carcasses underwent post-mortem computed tomography (PMCT), revealing congenital and degenerative traumatic kyphoscoliosis, respectively. RESULTS: Although kyphoscoliosis may not have directly caused the demise of these individuals, it is hypothesized that the reduced spinal range of motion and mobility associated with kyphoscoliosis may have contributed to their deaths. CONCLUSION: This case report presents the first documented cases of kyphoscoliosis in two NFPs stranded in Korean waters, utilizing PMCT as an efficient methodology for assessing skeletal abnormalities in cetaceans.

Four-Year Outcomes of Corrective Surgery With Anterior and Posterior Instrumentation Combined With Kyphectomy for a Patient With Congenital Kyphoscoliosis and Underlying Myelomeningocele.

Patients with myelomeningocele associated with severe kyphoscoliosis usually presented with rigid and angulated gibbus at their back. The condition causes this group of patients to face difficulties in their daily activities, especially in sitting and lying in supine positions. They are also prone to have a pressure sore over the gibbus and encounter the risk of infection. Here the authors would present a case of a four-year-old girl with underlying myelomeningocele who was diagnosed with worsening kyphoscoliosis along her growth. Her whole spine x-ray radiograph revealed a kyphosis angle of 80° between the T11 and L4 levels. The patient underwent a deformity corrective surgery with total kyphectomy in a combination of anterior and posterior spinal instrumentation. In the present case, we were able to obtain sufficient correction of the spinal kyphotic deformity in that patient in a single-stage surgery with satisfactory surgical outcomes at a four years follow-up.

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.

Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management. Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female with a clinical diagnosis of Larsen syndrome from birth presented for genetic testing based on her recent diagnosis of premenopausal breast cancer. She had a past medical history of multiple carotid dissections. As she never had confirmatory molecular genetic testing for Larsen syndrome, whole-exome sequencing was utilized to assess both hereditary cancer predisposition syndromes and connective tissue disorders. A homozygous pathogenic variant in the FKBP14 gene was identified associated with FKBP14 kyphoscoliotic Ehlers-Danlos syndrome. We recommend that patients with a clinical diagnosis of Larsen syndrome undergo broad-based molecular sequencing for multiple hereditary connective tissue disorders. Molecular diagnosis is particularly crucial for all individuals who have a history of significant vascular events in the setting of a clinical diagnosis only. Early diagnosis of a hereditary connective tissue disorder with vascular features allows for screening and subsequent prevention of cardiovascular events.

The results of surgical treatment of preschool and primary school age children with congenital deformation of the spine in isolated hemivertebra: Comparative analysis.

Introduction: Despite a detailed study of the natural development of congenital spinal deformity in an isolated hemivertebra and the methods of surgical correction of this pathology, some issues remain unresolved. The age at which the surgical correction of congenital spinal deformity should be performed is a controversial issue among specialists dealing with this problem. The aim of the work was to conduct a comparative analysis of the results of spinal deformity correction in children with congenital kyphoscoliosis with an isolated hemivertebra of preschool and primary school age. Materials and methods: The study involved 26 patients aged from 1 year 9 months to 9 years 6 months (10 girls and 16 boys) with congenital kyphoscoliosis caused by an isolated hemivertebra. The patients underwent surgical interventions of partial or complete resection of the hemivertebra with adjacent intervertebral discs from the dorsal or combined approach, correction, and stabilization of congenital deformity of the spine with a posterior multi-support metal structure. All the patients were divided into two groups by age: the first group-children under 4 years old (14 children), and the second group-children of 6 years and older (12 children). Results: Metal fixation during surgical treatment in children of primary school and preschool ages was carried out in the majority of cases in a polysegmental manner. Regarding the approach for surgical treatment, it can be noted that in the 2nd group of patients, preference was more often given to the dorsal surgical approach. The duration of the surgical intervention and the amount of blood loss between different age groups did not have statistically significant differences. In the group of children of preschool age, in three cases, the destabilization of the metal structure was noted in the early postoperative period when control radiographs were performed after surgical treatment. In the group of older children, after surgical treatment, the spinal dysplastic deformity above or below the zone of metal fixation was detected in three cases. Conclusion: The effectiveness of surgical treatment of congenital deformity was significantly higher in children of the younger age group compared to school-age patients.

Long-term results after the one-stage posterior-only surgical correction of thoraco-lumbar kyphoscoliosis in congenital spine deformity caused by two ipsilateral hemi-vertebrae.

BACKGROUND: Two ipsilateral hemivertebrae is less common and presents severe growth imbalance caused by the vertebral anomalies. However, there is a paucity of reports regarding to two ipsilateral thoracolumbar hemivertebrae. The purpose of present study is to evaluate the long-term outcomes of the posterior surgical correction of thoraco-lumbar spine deformity caused by two ipsilateral hemivertebrae. METHODS: From 2006 to 2014, a total of 14 consecutive pediatric patients with congenital thoraco-lumbar hemivertebrae were treated by posterior excision of hemivertebrae with short segment fusion. The following parameters were measured: coronal major curvature, cranial and caudal compensatory curvature, segmental kyphosis, lumbar lordosis, trunk shift, apical vertebra translation and sagittal vertical axis. These results were compared and evaluated in preoperatively, immediately postoperatively and at the final follow-up. All patients had a minimum of 5 years follow-up. RESULTS: The mean age at surgery was 11.1 ± 4.8 years (2yos to 17yos). The mean follow-up period was 80.2 ± 19.4 months (60mons to 117mons). There was a mean improvement of 74.2% in the coronal major curve from a mean angle of 64.1° before surgery to 15.8° at the final follow-up. The cranial and caudal curves improved of 69.8 and 69.0% from 25.6° to 7.7°, 26.9 to 8.2, respectively. The mean thoraco-lumbar kyphosis was 59.9° before and 13.6° after surgery, 20.8° at the final follow-up. Alignment in the coronal and sagittal plane was either maintained or improved within normal values in all patients. CONCLUSIONS: Good correction and spinal balance can be achieved by posterior-only hemivertebrectomy in patients with thoracolumbar kyphocsoliosis caused by two ipsilateral hemivertebra. The complication of neurological injury is low but a technically demanding procedure. More attention should be paid in residual curve progression after surgery.

Case Report of Congenital Kyphoscoliosis with Myotonic Dystrophy Type 1: Perioperative and Anesthetic Considerations.

Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention. The presence of muscular dystrophy may accelerate progression of scoliosis thus requiring surgical treatment. The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases.

Asymmetrical vertebral column decancellation for the management of rigid congenital kyphoscoliosis.

BACKGROUND: Congenital kyphoscoliosis is a disease that often requires surgical treatment. Wedge osteotomies, such as pedicle subtraction osteotomy, are insufficient to correct this complicated rigid deformity. Vertebral column resection yields sufficient correction, but it is an exhaustively lengthy operation with a high risk of major complications. There are few effective and safe techniques for treating rigid congenital kyphoscoliosis. We aimed to investigate the technique of asymmetrical vertebral column decancellation (AVCD) for the treatment of rigid congenital kyphoscoliosis and evaluate the clinical and radiographic results of patients treated with the technique. METHODS: Between January 2013 to June 2017, the data of 31 patients with congenital kyphoscoliosis who underwent single level AVCD were reviewed. Preoperative and postoperative radiographical parameters and the visual analogue scale, Asia Spinal Injury Association, and Scoliosis Research Society-22 scores were documented. The patients were followed up for an average period of 29 months. RESULTS: The average operative time was 273.9 ± 46.1 min. The average volume of blood loss was 782.3 ± 162.6 ml. The main coronal curve improved from a mean of 81.4° preoperatively to 24.7° at the final follow-up, and the coronal balance improved from 28.9 to 7.6 mm. The degree of local kyphosis improved from a mean of 86.5° to 29.2°, and the sagittal balance improved from 72.3 to 16.9 mm. All clinical outcomes also improved significantly from preoperatively to the final follow-up. No permanent postoperative neurologic complications occurred. CONCLUSION: The AVCD surgical procedure corrects spinal deformities in both the coronal and sagittal planes by way of a convex-sided Y shape osteotomy, achieves satisfactory realignment without additional neurological complications, and can be considered an alternative treatment for rigid congenital kyphoscoliosis.

A rare intraoperative spinal cord injury caused by thoracic 8 nerve root interruption during posterior vertebral column resection surgery for severe congenital kyphoscoliosis: a case report.

BACKGROUND: To our knowledge, the exposed nerve roots in thoracic spine are usually sacrificed to facilitate osteotomy during posterior vertebral column resection (PVCR) for severe spinal deformity. Currently we report a case with severe spine deformity in which intraoperative neurological monitoring (IOM) loss after interrupting T8 nerve root finally led to spinal cord injury during PVCR surgery. CASE PRESENTATION: The patient was a 14-year-old female with severe congenital kyphoscoliosis (CKS) without preoperative neurologic deficits. The IOM events (MEP loss and SSEP latency prolong) were showed when T8 nerve root at concave side was interrupted. And then we reduce the scope of osteotomy to control bleeding, raised blood pressure (MAP, 65-80) to increase blood supply for spinal cord, placed the bilateral rod to stabilized the spinal cord, used the methylprednisolone, explored the presence or absence of spinal cord compression, and prepared to change the surgical plan from PVCR to PSO. After that the IOM signals partial recovered from the lowest point. Postoperatively the patients showed transient motor function deficits of left lower limbs weak without somatosensory deficits, and come back to preoperative status 6 months later. CONCLUSIONS: Interrupting the thoracic spine nerve root is danger to trigger the spinal cord injury during PVCR procedure of severe CKS. That probably because the increasing tension of contralateral anterior horn area of spinal cord via the nerve root pulling.

Intraoperative tension pneumothorax during posterior vertebral column resection in a child with congenital scoliosis.

BACKGROUND: Intraoperative tension pneumothorax (TPT) is extremely rare in spinal surgery overall and particularly in extensive deformity procedures. Here, we report a TPT occurring in conjunction with posterior vertebral column resection (pVCR) for the treatment of congenital scoliosis. CASE DESCRIPTION: A 12-year-old female undergoing congenital thoracic scoliosis surgery (e.g., pVCR) developed abrupt intraoperative increases in airway pressure and compromised hemodynamics that led to a TPT. This was directly attributed to an inadvertent pleural tear. Temporary drainage of the accumulated air was accomplished with a urethral catheter inserted directly into the pleural cavity. This was later supplemented with a standard chest tube. The child quickly improved and was routinely discharged a few days later. CONCLUSION: In patients undergoing pVCR, if the surgical team is faced with unexplained hemodynamic instability and increased airway resistance, a TPT should be strongly suspected and appropriately managed.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long arm of Chromosome 17 harboring the SOX9 locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the central nervous system. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21.1;q24.3) on prenatal genetic testing. Comparative genomic hybridization revealed deletions at 6p21.1 and 17q24.3, the latter being 2.3 Mb upstream of SOX9 Whole-exome sequencing did not identify pathogenic variants in SOX9, suggesting that the 17q24.3 deletion represents a translocation breakpoint farther upstream of SOX9 than previously identified. At 2 mo of age the patient developed progressive communicating ventriculomegaly and thinning of the cortical mantle without clinical signs of increased intracranial pressure. This case suggests ventriculomegaly in some cases represents not a primary impairment of cerebrospinal fluid dynamics, but an epiphenomenon driven by a genetic dysregulation of neural progenitor cell fate.

Deletion of Mecom in mouse results in early-onset spinal deformity and osteopenia.

Recent studies have indicated a role for a MECOM allele in susceptibility to osteoporotic fractures in humans. We have generated a mutation in Mecom in mouse (termed ME(m1)) via lacZ knock-in into the upstream transcription start site for the gene, resulting in disruption of Mds1 and Mds1-Evi1 transcripts, but not of Evi1 transcripts. We demonstrate that ME(m1/m1) mice have severe kyphoscoliosis that is reminiscent of human congenital or primary kyphoscoliosis. ME(m1/m1) mice appear normal at birth, but by 2weeks, they exhibit a slight lumbar lordosis and narrowed intervertebral space. This progresses to severe lordosis with disc collapse and synostosis, together with kyphoscoliosis. Bone formation and strength testing show that ME(m1/m1) mice have normal bone formation and composition but are osteopenic. While endochondral bone development is normal, it is markedly dysplastic in its organization. Electron micrographs of the 1week postnatal intervertebral discs reveals marked disarray of collagen fibers, consistent with an inherent weakness in the non-osseous connective tissue associated with the spine. These findings indicate that lack of ME leads to a complex defect in both osseous and non-osseous musculoskeletal tissues, including a marked vertebral osteopenia, degeneration of the IVD, and disarray of connective tissues, which is likely due to an inherent inability to establish and/or maintain components of these tissues.

Clinical efficacy of hemivertebra resection for treating congenital kyphoscoliosis / 重庆医学

Objective To explore the clinical efficacy and application value of hemivertebra resection for treating congenital ky‐phoscoliosis .Methods 30 cases of congenital kyphoscoliosis and hemivertebral deformity in our hospital from January 2011 to Jan‐uary 2013 were selected as the research subjects .Among them ,12 cases of simple vertebral and non‐structural bending were per‐formed the posterior hemivertebral resection and short segment pedicle screw fixation ;3 cases of complicating lordosis and hemiver‐tebral protruding to the ventral side were performed the anterior hemivertebral resection and bone graft fusion fixation ;15 cases of complicating structural compensatory curve were performed the posterior transpedicle hemivertebral resection and compensatory bend long segment fixation and fusion .The clinical effects of surgical treatment for all patients were performed the comparative a‐nalysis .Results The mean postoperative kyphosis Cobb angle and the average final follow‐up Cobb angle were (8 .6 ± 3 .14) °and (11 .2 ± 7 .23) °respectively .The ultimate orthopedic rate of kyphosis was 58 .6% ;the average postoperative Cobb angle and and the average final follow‐up Cobb angle of scoliosis were (12 .8 ± 5 .47)°and (16 .2 ± 6 .24)°respectively ,the final orthopedic rate of scoliosis was 66 .5% .The mean Cobb angle of kyphosis and scoliosis after operation was significantly less than that before opera‐tion ,the difference was statistically significant(P< 0 .05) .Kyphosis and scoliosis were significantly improved .No significant post‐operative complications occurred .The effects were satisfied by the patients .Conclusion The hemivertebral resection has significant effect for treating congenital kyphoscoliosis with high kyphoscoliosis orthopedic rate and is worthy of further clinical study .

Surgical Treatment of Congenital Kyphoscoliosis / 대한정형외과학회잡지

Congenital kyphoscoliosis is an abnormal curvature of spine that is due to presence of vertebral anomalies which cause an imbalance in the longitudinal growth of the spine. Congenital kyphoscoliosis is often rigid and its correction can be difficult. It is often resistant to conservative treatment and more patients require surgical treatment than those with idiopathic curvature. The indication for the conservative treatment with Milwaukee brace is much limited. Largely Milwaukee brace is a delaying tactic to correct the spinal curvature until its growth is further advanced and it is more amenable for fusion. This paper was aimed to review our experience with 49 patients with congenital scoliosis, kyphosis and kyphoscoliosis who were treated surgically with various methods of preoperative correction, from Jan. 1968 to Dec. 1983, in special reference to new classification, proposed for common application to both kyphosis and scoliosis, and following results were obtained. 1.The average age when scoliosis was observed was 6.9 years, but the average age of surgery was deferred until 15.2 years. 2. The distribution of curve pattems were 1 cervicothoracic, 24 thoracic, 12 thoracolumbar, 7 lumbar and 1 lumbosacral curve in 45 scoliotic curves and 13 thoracic, 13 thoracolumbar and 4 lumbar curves in 30 kyphotic curves. The average degrees of deformity were most severe in thoracolumbar curves both in kyphosis and scoliosis. 3. The new morphological classification, which could be applicable to both kyphosis and scoliosis, was proposed. The type of unsegmented bar with contralateral hemivertebra was most common both in kyphosis and scoliosis. 4. Preoperative average degrees of scoliosis was 58.7 degrees and final correction was 20.6 degrees (35.1%) with loss of comection of 3.7 degrees (6.3%). Preoperative average degrees of kyphosis was 63.7 degrees and final correction was 20.1 degrees (42.5%) with loss of correction of 7.0 degrees (11.0%). 5. The surgical method with anterior and posterior fusion was the best treatment of severe kyphoscoliossis, in the aspect of final correction and loss of correction. 6. The lumbar curve was most amenable to treatment with the best final correction and the least loss of correction.