Search

Osteogenesis Imperfecta is a rare, hereditary bone condition with an incidence of 1/15,000–20,000. Symptoms include bone fragility, long bone deformity, scoliosis, hypermobility, alongside secondary features such as short stature, basilar invagination, pulmonary and cardiac complications, hearing loss, dentinogenesis imperfecta and malocclusion. Osteogenesis Imperfecta can have a large impact on the child and their family; this impact starts immediately after diagnosis. Fractures, pain, immobility, hospital admissions and the need for equipment and adaptations all influence the health-related quality of life of the individual and their family. This narrative review article aims to examine the impact the diagnosis and management of osteogenesis imperfecta has on the health-related quality of life of a child. It will touch on the effect this may have on the quality of life of their wider family and friends and identify strategies to optimise health-related quality of life in this population. Optimising health-related quality of life in children with Osteogenesis Imperfecta is often a complicated, multifaceted journey that involves the child, their extended family, school, extracurricular staff and numerous health professionals. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to analyze failed posterior fossa decompression (PFD) in patients with basilar invagination and atlantoaxial dislocation (BI‐AAD). Revision surgery in these patients is challenging and has been rarely reported. In addition, the anatomical variations of the vertebral artery increase the risk of revision surgery. Here, we introduce the implementation of a new type of one‐stage posterior revision surgery, whose difficulties and effects are summarized. Methods: A total of 21 patients with BI‐AAD who underwent PFD were retrospectively analyzed in our center from November 2017 to April 2021. The revision surgery in all patients was performed through the posterior approach. The Japanese Orthopaedic Association (JOA) score and the Short Term 12 (SF‐12) score were employed to evaluate the clinical symptoms and health status. The distance from the tip of the odontoid to Chamberlain's line (DCL), the atlantodental interval (ADI), the clivus‐canal angle (CCA), the diameter of the subarachnoid space (DSS), and the craniovertebral junction triangular area (CTA) were assessed radiographically. The pre‐ and postoperative results were compared by paired t test. Results: The data of 21 consecutive patients were reviewed, with an average follow‐up period of 28 ± 14 months. Postoperative imaging showed effectively reduced compression of BI‐AAD. No implant failure or neurovascular injury occurred. Eleven patients had vertebral artery abnormalities, but none had vertebral artery injury. All patients had evidence of bone fusion on the CT scan images within a 12‐month follow‐up period. The JOA and SF‐12 scores were significantly improved 1 year postoperatively (p < 0.001). Conclusion: Posterior surgery using the technique of interarticular distraction, fusion with cage grafting, and fixation is a safe and effective revision surgery to treat patients with basilar invagination and atlantoaxial dislocation who failed PFD, which will result in good outcome. [ABSTRACT FROM AUTHOR]

Basilar invagination has been classified into two types by Goel: Type A is defined mechanical instability of the atlantoaxial joint with upward displacement of the odontoid process while Type B is characterized by stable atlantoaxial joints. This study reviews the association between radiological features and symptomatology and prognosis of two types of basilar invagination for better clinical management. A retrospective analysis was conducted including 141 patients diagnosed with basilar invagination who underwent surgical treatment from January 2016 to December 2020. The neurological function was assessed by the JOA scores, and Short-Form 12 scores. Logistic univariate and multivariate analyses were performed to predict prognostic risk factors. Type A patients (21/101, 20.8%) with more cases of dizziness, lower preoperative JOA scores and SF-12 PCS scores (JOA, 13.0 vs. 13.9, P = 0.042; SF-12 PCS, 37.48 vs. 38.42, P = 0.034) compared to type B (2/40, 5%) (P = 0.022). Type B (22/40, 55%) with more cases of ataxia than type A (35/101, 34.7%) (P = 0.026). Patients with type B demonstrated a significantly higher improvement rate in SF-12 PCS than type A (P = 0.018). Further logistic regression revealed that onset age ≥ 45 years (OR 4.654, 95% CI 1.645–13.165; p = 0.004) and basal angle ≥ 125° (OR 28.139, 95% CI 1.090-726.239; p = 0.044) were independent risk factors for type A and type B, respectively. Type A patients with more cases of dizziness, and type B patients with more cases of ataxia, can achieve better long-term prognosis following clinical intervention. [ABSTRACT FROM AUTHOR]

Objective: The craniovertebral junction (CVJ) presents intricate anatomical challenges. In severe or irreducible malformations, complications such as reduction loss and fixation failure may occur, necessitating revision surgery. The posterior facet joint distraction and fusion (PFDF) technique, offers a solely posterior approach for revisions. Hence, we delineate varied revision scenarios, proposing surgical strategies and technical details to enhance outcomes and mitigate risks, thereby enriching the neurosurgical community's repertoire. Methods: This was a retrospective cohort study, analyzed patient data from Xuanwu Hospital, between 2017 to 2023. All patients had a history of surgical treatment for CVJ malformations, and experienced failure or loss of reduction. The distance from the odontoid process tip to the Chamberlain's line (DCL), the atlantodental interval (ADI), clivus‐canal angle, cervicomedullary angle, width of subarachnoid space, CVJ area, and width of syrinx were used for radiographic assessment. Japanese Orthopaedic Association (JOA) scores and SF‐12 scores were used for clinical assessment. Independent sample t‐tests were employed. A significance level of p < 0.05 indicates statistically significant differences. Results: We analyzed data from 35 patients. For patients who underwent PFDF, the postoperative DCL, ADI, and clivus‐canal angle significantly improved. For all patients, the postoperative cervicomedullary angle, width of subarachnoid space, CVJ area, and width of syrinx all demonstrated significant improvement, indicating the relief of neural compression. All patients showed significant improvement in both symptoms and clinical assessments. Conclusion: Severe atlantoaxial joint locking or ligament contracting are the fundamental cause of reduction and fixation failure. Anterior odontoidectomy is indicated for patients with robust bony fusion of the atlantoaxial joint in an unreduced position. The PFDF technique is safe and effective for patients with incomplete atlantoaxial bony fusion. Preoperative assessment of surgical feasibility and vertebral artery status ensures surgical safety and efficacy. [ABSTRACT FROM AUTHOR]

Background: Osteoradionecrosis (ORN) of the upper cervical spine is a rare but severe complication of head and neck cancer radiotherapy. To raise awareness of this condition, we describe a patient with a history of nasopharyngeal carcinoma who developed ORN of the upper cervical spine and review the published literature reporting surgical management. Case presentation: A 59-year-old female patient with persistent neck pain for one month and limited range of neck motion who had undergone radiotherapy for nasopharyngeal carcinoma with a total dose of 69.96 Gy 15 years ago presented to our hospital. The patient underwent endoscopic transnasal and transoral resection of the odontoid process and C1 anterior arch, combined with occipitocervical fusion. To better understand surgical management of ORN of the upper cervical spine, the literature published in the PubMed, Ovid MEDLINE, and Embase databases was reviewed. Our patient experienced alleviation of cervical pain and did not exhibit any postoperative complications. Since 2005, 11 cases of surgical management of ORN of the upper cervical spine (including the present case) have been published. Basilar invagination and/or atlantoaxial subluxation were observed in 4 /11 cases. Endoscopic procedures were performed in 4/11 cases, and occipitocervical fusion was performed in 8 /11 cases. Conclusion: Endoscopic transnasal and transoral resection of the odontoid process and C1 anterior arch is a safe and effective treatment option for ORN of the upper cervical spine. Occipitocervical fusion is useful in patients with basilar invagination and atlantoaxial subluxation. [ABSTRACT FROM AUTHOR]

Aim and Background: This study aimed to investigate the relationship between cervical spinal alignment and the center of gravity (COG) of the head in patients with Chiari malformation (CM) compared to healthy individuals. CM is characterized by the herniation of posterior fossa structures through the foramen magnum, potentially affecting head positioning and craniovertebral junction biomechanics. Understanding these biomechanical changes is crucial for improving diagnostic and treatment strategies. Materials and Methods: This retrospective study included 102 CM patients and 71 healthy controls. Radiological measurements were obtained from cervical X-rays, with seven reference points used to calculate angles related to head positioning and cervical curvature. Angular parameters, including cranial incidence (CI), cranial slope (CS), cranial tilt (CT), C7 slope (C7S), and spinocranial angle (SCA), were analyzed to determine correlations with the COG of the head. Statistical analyses were performed using t -tests, ROC analysis, and Pearson/Spearman correlation tests. Results: CM patients had significantly higher CI, CT, STT, and SCA angles compared to controls (P < 0.05), indicating an anterior displacement of the head's COG. The CS angle was lower in CM patients (P < 0.05), reflecting a more flexed head position. No significant differences were found in C7S and C2T angles between groups, suggesting similar cervical curvature. ROC analysis demonstrated high sensitivity and specificity of the angular measurements for diagnosing CM. Conclusion: CM patients exhibit distinct biomechanical alterations, including an anterior shift of the COG and a more flexed head position. These findings highlight the potential of angular measurements as noninvasive diagnostic tools for CM. Future studies should explore the implications of these biomechanical changes on CM progression and treatment outcomes. [ABSTRACT FROM AUTHOR]

Case: A 47-year-old man presented with neck pain, restricted neck movements, along with involvement of facial and hypoglossal nerve. On the basis of clinico-radiological correlation, the patient was diagnosed with craniovertebral junction tuberculosis and was started on antitubercular therapy (ATT). Failing the conservative trial, the patient was operated and occipitocervical fusion was done with bone grafting. After 12 months of ATT intake, he showed complete recovery of the facial and hypoglossal nerve, with complete resolution of instability pain. Conclusion: Craniovertebral junction tuberculosis is uncommon, and its manifestation with cranial nerves involvement is even more rare. Meticulous clinico-radiological assessment should be done to diagnose and plan the treatment. Early recognition and prompt initiation of ATT, along with timely surgical intervention, when necessary, are crucial for optimal management and outcomes. [ABSTRACT FROM AUTHOR]

Background: Chiari malformation type 1 (CM1) remains a complex neurosurgical condition with ongoing debate regarding its optimal management. Methods: This narrative review examines key controversies surrounding the pathophysiology, surgical indications, and treatment strategies for CM1. Results: We highlight the challenges posed by the wide spectrum of CM variants and the evolving understanding of its association with syringomyelia, basilar invagination, and craniovertebral instability. Emerging surgical techniques, including minimally invasive approaches and the use of new technologies such as endoscopes and exoscopes, are evaluated for their potential to improve outcomes. Recent consensus guidelines are also discussed. Conclusions: The need for individualized treatment plans for CM1 is emphasized, with special focus put on the connection between novel pathophysiological insights, technological advancements and opportunities for a more nuanced surgical management. Further research is necessary to establish solid foundations for more individualized treatments. [ABSTRACT FROM AUTHOR]

Background: Congenital craniovertebral deformity, including basilar invagination (BI) and atlantoaxial instability (AAI), are often associated with three-dimensional (3D) deformity, such as C1-2 rotational deformity, craniocervical kyphosis, C1 lateral inclination, among other abnormalities. Effective management of these conditions requires the restoration of the 3D alignment to achieve optimal reduction. Recently, 3D printing technology has emerged as a valuable tool in spine surgery, offering the significant advantage of allowing surgeons to customize the prosthesis design. This innovation provides an ideal solution for precise 3D reduction in the treatment of craniovertebral deformities. Objective: This study aims to describe our approach to individualized computer-simulated reduction and the design of C1-2 intra-articular 3D printed porous titanium alloy cages for the quantitative correction of craniovertebral junction deformities. Methods: A retrospective analysis was conducted on patients with craniovertebral deformities treated at our institution using individualized 3D-printed porous titanium alloy cages. Preoperative CT data were used to construct models for 3D realignment simulations. Cage designs were tailored to the simulated joint morphology following computer-assisted realignment. Preoperative and postoperative parameters were statistically analyzed. Results: Fourteen patients were included in the study, with a total of 28 3D-printed porous titanium alloy cages implanted. There were no cases of C2 nerve root resection or vertebral artery injury. All patients experienced symptom relief and stable implant fixation achieved in all cases. No implant-related complications were reported. Conclusion: The use of individualized computer-simulated reduction and the design of C1-2 intra-articular 3D printed porous titanium alloy cage facilitates precise 3D realignment in patients with craniovertebral deformities, demonstrating effectiveness in symptom relief and stability. [ABSTRACT FROM AUTHOR]

Objective: Recent studies indicate that 3 morphological types of atlanto-occipital joint (AOJ) exist in the craniovertebral junction and are associated with type II basilar invagination (BI) and atlanto-occipital instability. However, the actual biomechanical effects remain unclear. This study aims to investigate biomechanical differences among AOJ types I, II, and III, and provide further evidence of atlanto-occipital instability in type II BI. Methods: Models of bilateral AOJ containing various AOJ types were created, including I-I, I-II, II-II, II-III, and III-III models, with increasing AOJ dysplasia across models. Then, 1.5 Nm torque simulated cervical motions. The range of motion (ROM), ligament and joint stress, and basion-dental interval (BDI) were analyzed. Results: The C0–1 ROM and accompanying rotational ROM increased progressively from model I-I to model III-III, with the ROM of model III-III showing increases between 27.3% and 123.8% indicating ultra-mobility and instability. In contrast, the C1–2 ROM changes were minimal. Meanwhile, the stress distribution pattern was disrupted; in particular, the C1 superior facet stress was concentrated centrally and decreased substantially across the models. The stress on the C0–1 capsule ligament decreased during cervical flexion and increased during bending and rotating loading. In addition, BDI gradually decreased across the models. Further analysis revealed that the dens showed an increase of 110.1% superiorly and 11.4% posteriorly, indicating an increased risk of spinal cord impingement. Conclusion: Progressive AOJ incongruity critically disrupts supportive tissue loading, enabling incremental atlanto-occipital instability. AOJ dysplasia plays a key biomechanical role in the pathogenesis of type II BI. [ABSTRACT FROM AUTHOR]

Basilar invagination (BI) is a common deformity. This study aimed to quantitatively evaluate the height of clivus and atlanto-occipital lateral mass (LM) in patients with BI with or without atlas occipitalization (AOZ). We evaluated 166 images of patients with BI and of controls. Seventy-one participants were control subjects (group A), 68 had BI with AOZ (group B), and 27 had BI without AOZ (group C). Parameters were defined and measured for comparisons across the groups. Multiple linear regression analysis was used to test the relationship between Chamberlain's line violation (CLV) and the clivus height ratio or atlanto-occipital LM height. Based on the degree of AOZ, the lateral masses in group B were classified as follows: segmentation, incomplete AOZ, complete AOZ. From groups A to C, there was a decreasing trend in the clivus height and clivus height ratio. There was a linear negative correlation between the clivus height ratio and CLV in the three groups. Generally, the atlanto-occipital LM height followed the order of group B < group C < group A. The atlanto-occipital LM height was included only in the equations of groups B. There were no cases of atlantoaxial dislocation (AAD) in group C. There was a decreasing trend in LM height from the segmentation type to the complete AOZ type in group B. BI can be divided into three categories: AOZ causes LM height loss; Clivus height loss; Both clivus and LM height loss. The clivus height ratio was found to play a decisive role in both controls and BI group, while the atlanto-occipital LM height loss caused by AOZ could be a secondary factor in patients with BI and AOZ. AOZ may be a necessary factor for AAD in patients with congenital BI. The degree of AOZ is associated with LM height in group B. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the efficacy of calvarial graft (CG) in craniovertebral fusion procedures in children at a single single center. Methods: Paediatric patients in whom CG had been used as the sole construct, or to augment a semi-rigid construct were identified from a prospective operative database. Age, underlying diagnosis and clinical presentation were obtained from review of the electronic patient record. The primary outcome was bony fusion confirmed on CT. Additional outcome measures were donor site morbidity and need for further surgery. Results: From 82 paediatric CVJ procedures, CG was used in 15 patients with a mean age of 4.1 (± 3.52) years. Aetiology comprised skeletal dysplasia (n = 12), congenital anomaly of segmentation (n = 1) and cervical trauma (n = 2). Myelopathy was the most common clinical finding (9/15), followed by cervical pain (3/15). The indications for surgery comprised atlanto-axial subluxation (8/15), basilar invagination with compression (2/15), and cervicomedullary compression without instability but deemed at risk of instability following decompression (4/15). CG was used in three scenarios: (i) CG + wire only (n = 10); (ii) CG + semirigid instrumentation (n = 3); (iii) CG to augment rigid instrumented fixation (n = 2). In 13 patients a Halo-body Jacket was used peri-operatively. At a mean time of 4.4 months following surgery, 80% of cases had radiological evidence of fusion. Conclusion: Full thickness calvarial bone graft is readily available, has good structural integrity and is associated with minimal donor site morbidity. CG should be considered for use as a sole construct, or to augment semi-rigid constructs when instrumented fixation is precluded. [ABSTRACT FROM AUTHOR]

Objective: To investigate (1) lateral atlantoaxial articulation (LAA) morphology in patients with basilar invagination (BI) with atlantoaxial dislocation (AAD) and healthy individuals and its relationship with the severity of dislocation and (2) the effect of the LAA morphology on reduction degree (RD) after surgery. Methods: In this retrospective propensity score matching case-control study, imaging and baseline data of 62 patients with BI and AAD from 2011 to 2022 were collected. Six hundred thirteen participants without occipitocervical junctional deformity served as controls. Logistic regression and receiver operating characteristic (ROC) curve were used for analysis. Results: The age, BMI and sex did not differ significantly between the two groups after propensity score matching. Sagittal slope angle (SSA) and coronal slope angle (CSA) was lower and greater, respectively, in the patient group than in the control group. A negative SSA value usually indicates anteverted LAA. Regression analysis revealed a significant negative correlation between SSA and severity of dislocation. However, no relationship was found between CSA and the severity of dislocation. The multivariate logistic regression analysis revealed that minimum-SSA emerged as an independent predictor of satisfactory reduction (RD ≥ 90%). The ROC curve demonstrated an area under the curve of 0.844, with a cut-off value set at -40.2. Conclusion: SSA in patients group was significantly smaller and more asymmetric than that in the control group. Dislocation severity was related to SSA but not to CSA. Minimum-SSA can be used as a predictor of horizontal RD after surgery. [ABSTRACT FROM AUTHOR]

Atlanto-occipital assimilation is a congenital craniovertebral junction malformation where the partial or complete fusion of the atlas and occiput occurs. Atlanto-occipital assimilation can be associated with numerous complications, including basilar invagination, atlantoaxial subluxation, Chiari malformation, congenital vertebral bodies fusion, and cord compression. As a result, vigilant identification and accurate reporting of atlanto-occipital assimilation are essential. The purpose of this review article is to discuss the numerous complications and associations of atlanto-occipital assimilation, such that an accurate diagnosis could be made for this commonly missed pathology. [ABSTRACT FROM AUTHOR]

In 1994, the use of interfacet spacer placement was for joint distraction, reduction, and fusion to supplement atlantoaxial or occipitocervical fixation. Here, we present a unique case of bilateral atlantoaxial interfacet fixation using cervical facet cages (CFC) in a pediatric patient with basilar invagination. In addition, we review the literature on atlantoaxial facet fixation. We present a 12-year-old boy with Wiedemann-Steiner syndrome who presented with multiple episodes of sudden neck jerking, described as in response to a sensation of being shocked, and guarding against neck motion, found to have basilar invagination with cervicomedullary compression. He underwent an occiput to C3 fusion with C1-C2 CFC fixation. We also conducted a literature review identifying all publications using the following keywords: "C1" AND "C2" OR "atlantoaxial" AND "facet spacer" OR "DTRAX." The patient demonstrated postoperative radiographic reduction of his basilar invagination from 6.4 to 4.1 mm of superior displacement above the McRae line. There was a 4.5 mm decrease in the atlantodental interval secondary to decreased dens retroflexion. His postoperative course was complicated by worsening of his existing dysphagia but was otherwise unremarkable. His neck symptoms completely resolved. We illustrate the safe use of CFC for atlantoaxial facet distraction, reduction, and instrumented fixation in a pediatric patient with basilar invagination. Review of the literature demonstrates that numerous materials can be safely placed as a C1-C2 interfacet spacer including bone grafts, titanium spacers, and anterior cervical discectomy and fusion cages. We argue that CFC may be included in this arsenal even in pediatric patients. [ABSTRACT FROM AUTHOR]

Background: The Craniovertebral Junction (CVJ) is prone to various pathologies, including instability and congenital anomalies. Understanding these conditions and their management strategies is critical for effective treatment. Materials and Methods: A systematic search was conducted in Science Direct and PubMed databases following PRISMA guidelines. Inclusion criteria encompassed studies addressing craniovertebral instability and associated pathologies. Six systematic investigations were assessed for methodological quality. Data extraction involved 702 patients with CVJ issues, among which 129 had related conditions, while 279 displayed normal CVJ. Surgical interventions encompassed various techniques such as C1-C2 fixation, posterior decompression, and screw placements. Results: Among 702 patients studied, atlantoaxial subluxation, basilar invagination, and odontoid fractures were observed in 129 cases. Surgical treatments showed favorable outcomes, with fusion achieved within a year post-surgery for both C1-C2 fixation techniques and posterior decompression strategies. Studies highlighted successful outcomes in cases of cervical myelopathy, especially with early occipitocervical fusion. Conclusion: Managing atlantoaxial instability remains a debated topic, with varying success rates observed in different surgical interventions. Recommendations emphasize the importance of stabilization techniques and imaging modalities for effective preoperative planning and postoperative care. However, limitations in available data underscore the need for further research to refine treatment strategies for better patient outcomes in this complex area of spinal pathology. [ABSTRACT FROM AUTHOR]

Background: Chiari malformation type 1 (CM1) is a congenital hindbrain malformation characterized by herniation of the cerebellar tonsils below the foramen magnum. The term Chiari type 1.5 is used when herniation of the brainstem under the McRae line and anomalies of the craniovertebral junction are also present. These conditions are associated with several symptoms and signs, including headache, neck pain, and spinal cord syndrome. For symptomatic patients, surgical decompression is recommended. When radiographic indicators of craniovertebral junction (CVJ) instability or symptoms related to ventral brainstem compression are present, CVJ fixation should also be considered. Case description: We report the case of a 13-year-old girl who presented with severe tetraparesis after posterior decompression for Chiari malformation type 1.5, followed 5 days later by partial C2 laminectomy. Several months after the initial surgery, she underwent two fixations, first without and then with intraoperative cervical traction, leading to significant neurological improvement. Discussion and conclusion: This case report underscores the importance of meticulous radiological analysis before CM surgery. For CM 1.5 patients with basilar invagination, CVJ fixation is recommended, and C2 laminectomy should be avoided. In the event of significant clinical deterioration due to nonadherence to these guidelines, our findings highlight the importance of traction with increased extension before fixation, even years after initial destabilizing surgery. [ABSTRACT FROM AUTHOR]

Klippel–Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper direction, compression of the brainstem and cervical cord results in neurological defects and surgery is required. A 16-year-old boy diagnosed with KFS and severe BI presented with spastic tetraplegia, opisthotonus and dyspnea. CT scans showed basilar impression, occipitalization of C1 and fusion of C2/C3. MRI showed ventral compression of the medullocervical junction. Posterior occipitocervical reduction and fusion along with decompression were performed. Paralysis gradually improved postoperatively over 3 weeks. However, severe spasticity and opisthotonus persisted and intrathecal baclofen (ITB) therapy was initiated. Following this, opisthotonus disappeared and spasticity of the extremities improved. Rehabilitation therapy continued by controlling the dose of ITB. Five years after the surgery, self-propelled wheelchair driving was achieved and activities of daily life improved. The treatment strategy for patients with BI and congenital anomalies remains controversial. Posterior reduction and internal fixation using instrumentation were effective techniques in this case. Spasticity control achieved through a combination of surgery and ITB treatment enabled the amelioration of therapeutic efficacy of rehabilitation and the improvement of ADL. [ABSTRACT FROM AUTHOR]

Occipitalization of atlas is an osseous anomaly of the craniovertebral junction, which occurs at the base of the skull in the region of the foramen magnum. It is the fusion of first cervical vertebra with the occipital bone of the skull. A 16-year-old patient reported with chief complaint of irregularly placed teeth. Routine lateral cephalogram assessment revealed the presence of fusion between first cervical vertebrae (C-1) and base of skull. The radiographic investigation revealed the presence of fusion along with the clinical findings of short neck, short face, cleft palate, missing teeth, and pain during neck extension and flexion. Such cases of craniocervical anomaly can cause orthopedic and neurological problems like abnormal posture of head, restricted neck movements, cervical pain, pain in extremities, wasting of muscles, and convulsions. The comprehensive radiographic assessment of all structures visible in cephalogram of orthodontic patient can help in identification of such anomalies and sensitize the patients about symptomatic or asymptomatic condition. [ABSTRACT FROM AUTHOR]

We evaluate the efficacy, safety and indications of single stage posterior release, reduction, and fixation of basilar invagination (BI) with irreducible atlantoaxial dislocation (IAAD). Seventeen patients with BI and IAAD consecutively underwent one-stage release, reduction, and fixation by a posterior approach from July 2000 to June 2015 were followed up for at least 12 months. There were 8 males. Mean age was 56 35.2 ± 13.8 years (range 12–56). The clinical symptoms and signs of the patients were recorded. Pre- and postoperative imaging examinations were performed. Neurological function was assessed using the Japanese Orthopedic Association (JOA) and Ranawat scores. Average follow-up time was 47.4 months (12–97 months). The JOA score increased from preoperative 4–10 (8.06 ± 2.52) to postoperative 13–16 (15.20 ± 0.62). The preoperative Chamberlain line, McRae line, Wackenheim line, atlantodens interval, and cervico medullary angle were 12.52 ± 5.17 mm, 6.59 ± 3.04 mm, 6.96 ± 4.32 mm, 9.88 ± 1.93 mm, and 115.35 ± 12.40°, respectively. The postoperative values were 2.0 ± 3.67 mm, −3.06 ± 1.85 mm, −1.76 ± 2.88 mm, 1.17 ± 1.18 mm, and 136.76 ± 11.44°, respectively. One-stage release, reduction, and fixation for patients with BI and IAAD through a posterior approach is safe and efficient. [ABSTRACT FROM AUTHOR]

Introduction: Cranio‐cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes. Objective: To assess cranio‐cervical anomalies and associated clinical findings in patients with moderate‐to‐severe OI using 3D cone beam computed tomography (CBCT) scans. Methods: Cross‐sectional analysis of CBCT scans in 52 individuals with OI (age 10–37 years; 32 females) and 40 healthy controls (age 10–32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non‐collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri‐Kansas City (UMKC). Results: OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P =.001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z‐score (P =.01), presence of DI (P =.04) and being male (P =.04) were strong predictors of platybasia, whereas height z‐score (P =.049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement. Conclusion: The severity of the phenotype in OI, as expressed by the height z‐score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate‐to‐severe OI. Screening for cranial base anomalies is advisable in individuals with moderate‐to‐severe OI, with special regards to the individuals with a shorter stature and DI. [ABSTRACT FROM AUTHOR]

Objectives and Background: To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the cervicomedullary junction, leading to neurological deficits. Severe cases require surgical intervention, but there is debate over the choice of approach. The anterior approach allows direct decompression but carries high complication rates, while the posterior approach provides indirect decompression and offers good stability with fewer complications. Materials and Methods: A 15-year-old boy with severe myelopathy presented to our hospital with neck pain, bilateral upper limb muscle weakness, and hand numbness persisting for 4 years. Additionally, he experienced increased numbness and gait disturbance three months before his visit. On examination, he exhibited hyperreflexia in both upper and lower limbs, muscle weakness in the bilateral upper limbs (MMT 4), bilateral hypoesthesia below the elbow and in both legs, mild urinary and bowel incontinence, and a spastic gait. Radiographs revealed severe basilar invagination (BI). Preoperative images showed severe BI and that the spinal cord was severely compressed with odontoid process. Results: The patient underwent posterior surgery with the C-arm free technique. All screws including occipital screws were inserted into the adequate position under navigation guidance. Reduction was achieved with skull rotation and distraction. A follow-up at one year showed the following results: Manual muscle testing results and sensory function tests showed almost full recovery, with bilateral arm recovery (MMT 5) and smooth walking. The cervical Japanese Orthopedic Association score of the patient improved from 9/17 to 16/17. Postoperative images showed excellent spinal cord decompression, and no major or severe complications had occurred. Conclusions: Basilar invagination alongside Klippel–Feil syndrome represents a relatively uncommon condition. Utilizing a posterior approach for treating reducible BI with a C-arm-free technique proved to be a safe method in addressing severe myelopathy. This novel navigation technique yields excellent outcomes for patients with BI. [ABSTRACT FROM AUTHOR]

Study Design: Retrospective cohort study. Objective: To investigate the effect of HRVA on the intrapedicular accuracy of C2PS placement through the freehand method in patients with BI and analyse the possible risk factors for C2PS malpositioning. Method: A total of 91 consecutive patients with BI who received 174 unilateral C2PS placements through the freehand method were retrospectively included. The unilateral pedicles were assigned to the HRVA and non-HRVA groups. The primary outcome was the intrapedicular accuracy of C2PS placement in accordance with the Gertzbein–Robbins scale. Moreover, the risk factors that possibly affected intrapedicular accuracy were assessed. Results: The rate of intrapedicular accuracy in C2PS placement in patients with BI was 23.6%. Results showed that the non-HRVA group had remarkably higher rates of optimal and clinically acceptable C2PS placement than the HRVA group. Nevertheless, the HRVA group exhibited similar results for grade B classification as the non-HRVA group. Moreover, in the HRVA and non-HRVA groups, the most common direction of screw deviations was the lateral direction. Furthermore, the multivariate analyses showed that the obliquity of the lateral atlantoaxial joint in the sagittal plane ≥15°, and that in the coronal plane ≥ 20°, isthmus height < 4.3 mm, and distance from the skin to the spinous process ≥ 2.8 cm independently contributed to a high rate of screw malpositioning in BI patients. Conclusion: The presence of HRVA in BI patients contributed to the high rate of malpositioning in C2PS placement via the freehand method. However, the rates of intrapedicular accuracy in patients with BI with and without HRVA were considerably low. [ABSTRACT FROM AUTHOR]

Background: The posterior cranial fossa (PCF) and the foramen magnum (FM) are the critical anatomical components of the craniovertebral junction region, which comprise and transmit numerous vital neurovascular structures. So, a fundamental knowledge of the basic radiological anatomy of PCF and FM is of paramount importance in the evaluation of associated pathologies and approaching these areas surgically. The aim of this study is to describe different linear and angular craniometric parameters of PCF, FM and surrounding territory based on reconstructed computed tomography (CT) images. Material and methods: This study was conducted in our tertiary care hospital in northern India from the period of January 2023 to June 2023 on 120 patients, and CT screening was done for the head and spine region following a history of head injury. Results: In this study, 120 patients were included, of whom 50.83% (n = 61) were females and 49.17% (n = 59) were males. Age ranged from 18 to 70 years with mean age of 43.5 ± 14.08 years. The mean values for linear craniometric parameters of PCF were statistically nonsignificant for different age groups. Statistically significant differences were found for twinning line (TL) (p < 0.0001), McRae's line (< 0.0001), clivus length (< p < 0.0001), internal occipital protuberence -opisthion line (p = 0.01), Klaus' index (p < 0.0001), height of posterior fossa (h) (p < 0.0001), h/TL (p = 0.028), when these values were compared for the genders. The measurements of FM transverse diameter, anteroposterior diameter and area were 27.12 ± 1.42 mm (range 23.6–30.1 mm), 30.99 ± 2.23 mm (range 27.6–35.8 mm) and 691.32 ± 30.35 mm2 (range 632.7–777.7 mm2). The values of clivus canal angle (p = 0.038) and clivoodontoid angle (p = 0.012) were statistically significant when compared for different age groups. The values of Boogard's angle (p = 0.021) and tentorial slope (p = 0.031) were statistically significant when these were compared for the genders. Conclusions: This study described almost all the linear and angular craniometric parameters used in the morphometric analysis of PCF and FM. The findings of this study provide valuable data regarding linear and angular craniometric parameters of PCF and FM which can redefine reference values. [ABSTRACT FROM AUTHOR]

Osteogenesis Imperfecta (OI) is a genetic disease characterized by osteopenia and bone fragility in which the craniocervical junction is also affected. This is of special relevance due to the high prevalence in anomalies described in the literature as follows: basilar invagination, basilar impression, and platybasia. Methods. We analyzed 19 lateral skull radiographs and 14 magnetic resonance images (MRIs) of 28 patients with OI in which eight linear and five angular measurements were plotted to determine the existence of craniocervical junction anomalies and compare them with 38 lateral skull radiographs and 28 MRIs performed on age-matched healthy controls. Results. From the reference values obtained from the control sample for each age group, we established the limit value at which pathology could be suspected. Some of the variables studied showed a clear trend associated with growth. More than half of the patients (60.71%) presented an anomaly in the skull base. Conclusions. According to the diagnostic criteria used and taking +2.5 SD as the limit value, 10.71% of the patients had basilar invagination, 35.71% had basilar impression, and 39.29% had platybasia, the latter being the most common finding. [ABSTRACT FROM AUTHOR]

We describe our experience with management of basilar invagination (BI) with the atlantoaxial dislocation (C1/C2) joint reduction technique, including posterior atlantoaxial internal fixation. From 2008 to 2018, eleven patients with atlantoaxial dislocation (AAD) and BI underwent surgical reduction using C1/C2 the joint reduction technique with a fibular graft/peek cage placement followed by C1 lateral mass/C2 pedicle screw fixation. In two cases that we originally planned to perform C1/C2 joint reduction, occiput-C2 pedicle screw fixation was performed instead due to intraoperative challenges. Post-operative course and surgical complications will be discussed. A total of 13 patients, with an average age of 30.46 ± 13.23 years (range 12–57), were operated. In one patient, iatrogenic vertebral artery injury occurred without any neurological complication. JOA score improved from 10.45 ± 1.128 to 15.0 ± 1.949 (p < 0.0001, paired t-test). All radiological indices were improved (p at least < 0.001). No construct failure was seen in any of the patients with C1-2 facet joint distraction technique during follow-up, and no additional anterior decompression surgery was required. C1/C2 joint reduction technique with fibular graft/cervical PEEK cage of BI patients together with AAD seems to be an effective and safe surgical method of treatment. [ABSTRACT FROM AUTHOR]

This article discusses the use of endoscopic endonasal odontoidectomy as a treatment for pediatric patients with ventral brainstem compression caused by congenital skeletal dysplasia. The study involved four pediatric patients who underwent posterior instrumented fusion followed by endoscopic endonasal odontoid resection. The patients experienced symptoms such as dysphagia, dysphonia, gait instability, extraocular movement dysfunction, and tongue numbness. The procedure was successful in achieving brainstem decompression and improving or resolving preoperative symptoms. The article highlights the challenges of performing this procedure in pediatric patients, including narrow nasopharyngeal anatomy and the need for preoperative planning and specialized instruments. [Extracted from the article]

This article, published in the Journal of Neurological Surgery, discusses the measurement of the superior and inferior limits of the endoscopic endonasal approach (EEA) to the craniovertebral junction. The EEA is a minimally invasive method for decompressing this area, with lower morbidity rates compared to traditional approaches. The study aimed to measure these limits purely through the endonasal trans-choanal approach, without the use of septostomy. The results showed that the rhinopalatine line (RPL) predicted the inferior limit more accurately than other reference lines, making it feasible to perform surgery on conditions such as basilar invagination or lower clival lesions without damaging the septum or other nasal structures. [Extracted from the article]

This article presents a retrospective review of pediatric patients who underwent endoscopic endonasal surgery (EES) for skull base pathologies at a large tertiary pediatric hospital between 1999 and 2022. The study included 243 patients with a median age of 14.2 years, with a male predominance. Various pathologies were treated, including juvenile nasopharyngeal angiofibroma, craniopharyngioma, chordoma, pituitary adenoma, encephalocele, Rathke cleft cyst, and basilar invagination or odontoid pannus. Most patients were treated with EES alone, and the overall rate of postoperative complications was 14%. CSF leak was the most common complication. The study concludes that EES is an effective approach for pediatric skull base pathologies, with lower neurovascular complication rates compared to traditional open approaches. [Extracted from the article]

This article discusses the use of extended endoscopic endonasal approaches (EEA) in the treatment of anterior cranio-vertebral junction (aCVJ) disorders. The study conducted a retrospective analysis of 38 patients who underwent EEA for various conditions, including bulbo-medullary compression, CVJ malformations, and non-healed odontoid fractures. The results showed improvement in all cases, with successful decompression and bone fusion. The EEA was found to be a promising alternative to traditional surgical approaches, offering reduced invasiveness and improved maneuverability. [Extracted from the article]

This case report discusses the presentation of an 8-year-old boy with atlanto-axial rotatory dislocation (AARD) and basilar invagination, a rare complication of inflammatory bowel disease unclassified (IBDU). Basilar invagination is an anomaly of the craniovertebral junction that can be associated with other abnormalities. The patient initially underwent evaluation at a local hospital, where no pathologies were found. However, further examination revealed signs of spondylarthritis and basilar invagination. The patient underwent surgical stabilization and received biological treatment, resulting in a significant reduction in symptoms. This case highlights the importance of thorough examination and imaging methods in pediatric cases of torticollis associated with IBDU to prevent life-threatening complications. [Extracted from the article]

Sleep apnoea is common in patients with Basilar Invagination with Arnorld Chiari Malformation (ACM). Various studies have shown its incidence in the range of 60-70% among such patients. Most of the studies have shown improvement in sleep disturbances after decompressive surgeries for Chiari Malformations. There is no report of postoperative deterioration due to sleep apnoea in these patients. Authors report two cases of basilar invagination associated with ACM and Platybasia, who deteriorated probably due to worsening of pre-existing sleep disorders on 3rd and 7th postoperative days after their surgeries, despite clinico-radiological improvements during their early post-operative courses. Authors discuss literature related to sleep apnoea in basilar invagination associated with Chiari Malformations and share precautions, which are relevant and should be undertaken in such patients especially during early post-operative periods to avoid alarming complication which may occur even in experienced hands. [ABSTRACT FROM AUTHOR]

Basilar invagination (BI) is characterized by rostral dislocation of the cervical spine toward the skull base. The craniometrics of the skull base have shown significant differences among craniocervical junction malformations. The sphenoid bone is the center of the skull base; however, no study has evaluated this bone in cases of BI. This was a cross-sectional study of MRI databanks from two institutions of the author's practice between 1985 and 2020. The craniometrics of the sphenoid bone were measured in BI patients and controls. Fifty-eight MRIs were selected, including 28 BI patients and 30 controls. The mean sphenoid crest-clivus length was 32.66 ± 4.7 mm in the BI group and 29.98 ± 3.0 mm in the control group (p = 0.01). The mean sphenoid planum-top of Dorsum sellae length was 28.53 ± 3.7 mm in the BI group and 26.45 ± 3.2 mm in the control group (p = 0.02). The mean tuberculum sellae–sphenoid floor height was 18.52 ± 4.4 mm in the BI group and 21.32 ± 2.9 mm in the control group (p = 0.00). The mean sella turcica–sphenoid floor height was 10.35 ± 3.8 mm in the BI group and 12.24 ± 3.5 mm in the control group (p = 0.05). The mean clivus length was 29.81 ± 6.3 mm in the BI group and 40.86 ± 4.2 mm in the control group (p = 0.00). The mean sphenoid length was 58.34 ± 7.4 mm in the BI group and 67.31 ± 6.0 mm in the control group (p = 0.00). The mean sphenoid angle was 116.33 ± 8.7° in the BI group and 112.36 ± 6.9° in the control group (p = 0.05). The BI sphenoid bone has shorter vertical dimensions and longer horizontal measures. This morphology promotes a flattening of the sphenoid angle. The sphenoid bone is significantly altered in BI, favoring the congenital hypothesis in the pathophysiology of this disease. [ABSTRACT FROM AUTHOR]

Introduction: Rheumatoid arthritis (RA) is a chronic, progressive, and systemic disease that broadly affects connective tissues, especially synovial joints. The aim of this study was to investigate the prevalence of cervical spine instability in patients diagnosed with RA. Material and methods: Fifty patients with rheumatoid arthritis referred to Imam Khomeini Hospital in Urmia were selected by the census. After taking a history, the neck X-ray was taken from the lateral view in static, flexion, and extension. Results: Among 50 patients, 11 were male (22%) and 39 were female (78%). The average disease duration period was 5.63 ± 5.21 years. 43 patients (86%) had normal AADI, 5 patients (10%) had abnormal dynamic AADI, and 2 patients (4%) had abnormal AADI static. Basilar invagination instability was not found in the studied patients. There was no significant difference in terms of gender between normal and abnormal cases of AADI. Among normal AADI cases, 40 cases (93%) were taking drugs and among abnormal AADI cases, 4 cases (57.1%) were taking drugs and 3 patients (42.9%) were not receiving drug treatment. There is a significant difference between normal and abnormal cases of AADI in terms of drug use. Conclusions: In our study, 7 cases of abnormal AADI were found among 50 patients, of which 2 had abnormal static AADI, which indicates the worsening of cervical spine instability. The study also found that those not treated with DMARDS were more likely to have cervical spine instability. [ABSTRACT FROM AUTHOR]

Professor Auguste Wackenheim, a pioneer in the field of spine imaging and neuroradiology, made significant contributions to clinical radiology. He published over 570 scientific articles and 46 books, some of which have been translated into multiple languages. Wackenheim's legacy is associated with neuroradiologic semiology and studies on the cervical spine. He also played a role in promoting the use of computed tomography (CT) in radiology. Additionally, Wackenheim was a respected educator and had a passion for language and the arts. [Extracted from the article]

Background: C1 transpedicular screw (C1TS) placement provided satisfactory pullout resistance and 3D stability, but its application might be limited in patients with basilar invagination (BI) due to the high incidences of the atlas anomaly and vertebral artery (VA) variation. However, no study has explored the classifications of C1 posterior arch variations and investigated their indications and ideal insertion trajectories for C1TS in BI. Purpose: To investigate the bony and surrounding arterial characteristics of the atlas, classify posterior arch variations, identify indications for C1TS, evaluate ideal insertion trajectories for C1TS in BI patients without atlas occipitalization (AO), and compare them with those without BI and AO as control. Methods: A total of 130 non-AO patients with and without BI (52 patients and 78 patients, respectively) from two medical centers were included at a 1:1.5 ratio. The posterior arch variations were assessed using a modified C1 morphological classification. Comparisons regarding the bony and surrounding arterial characteristics, morphological classification distributions, and ideal insertion trajectories between BI and control groups were performed. The subgroup analyses based on different morphological classifications were also conducted. In addition, the factors possibly affecting the insertion parameters were investigated using multiple linear regression analyses. Results: The BI group was associated with significantly smaller lateral mass height and width, sagittal length of posterior arch, pedicle height, vertical height of posterior arch, and distance between VA and VA groove (VAG) than control group. Four types of posterior arch variations with indications for different screw placement techniques were classified; Classifications I and II were suitable for C1TS. The BI cohort showed a significantly lower rate of Classification I than the control cohort. In the BI group, the subgroup of Classification I had significantly larger distance between the insertion point (IP) and inferior aspect of the posterior arch. In addition, it had the narrowest width along ideal screw trajectory, but a significantly more lateral ideal mediolateral angle than the subgroup of Classification II. Multiple linear regression indicated that the cephalad angle was significantly associated with the diagnosis of BI (B = 3.708, P < 0.001) and sagittal diameter of C1 (B = 3.417, P = 0.027); the ideal mediolateral angle was significantly associated with BMI (B = 0.264, P = 0.031), sagittal diameter of C1 (B = − 4.559, P = 0.002), and pedicle height (B = − 2.317, P < 0.001); the distance between the IP and inferior aspects of posterior arch was significantly associated with age (B = − 0.002, P = 0.035), BMI (B = − 0.007, P = 0.028), sagittal length of posterior arch (B = − 0.187, P = 0.032), pedicle height (B = − 0.392, P < 0.001), and middle and lower parts of posterior arch (B = 0.862, P < 0.001). Conclusion: The incidence of posterior arch variation in BI patients without AO was remarkably higher than that in control patients. The insertion parameters of posterior screws were different between the morphological classification types in BI and control groups. The distance between VA V3 segments and VAG in BI cohort was substantially smaller than that in control cohort. Preoperative individual 3D computed tomography (CT), CT angiography and intraoperative navigation are recommended for BI patients receiving posterior screw placement. [ABSTRACT FROM AUTHOR]

Background: Basilar invagination (BI) is a common disease in the craniocervical junction (CVJ) area. Posterior fossa decompression with/without fixation is a controversial surgical strategy for BI type B. This study aimed to evaluate the efficacy of simple posterior fossa decompression in treating BI type B. Methods: This study retrospectively enrolled BI type B patients who underwent simple posterior fossa decompression at Huashan Hospital, Fudan University between 2014.12 and 2021.12. Patient data and images were recorded pre- and postoperatively (at the last follow-up) to evaluate the surgical outcomes and craniocervical stability. Results: A total of 18 BI type B patients (13 females), with a mean age of 44.2±7.9 years (range 37–62 years), were enrolled. The mean follow-up period was 47.7±20.6 months (range 10–81 months). All patients received simple posterior fossa decompression without any fixation. At the last follow-up, compared with preoperation, the JOA scores were significantly higher (14.2±1.5 vs. 9.9±2.0, p = 0.001); the CCA was improved (128.7±9.6° vs. 121.5±8.1° p = 0.001), and the DOCL was reduced (7.9±1.5 mm vs. 9.9±2.5 mm, p = 0.001). However, the follow-up and preoperative ADI, BAI, PR, and D/L ratio were similar. No patients had an unstable condition between the C1-2 facet joints that was observed in the follow-up CT and dynamic X-ray. Conclusions: In BI type B patients, simple posterior fossa decompression could improve neurological function and will not induce CVJ instability in BI type B patients. Simple posterior fossa decompression could be a satisfactory surgical strategy for BI type B patients, but preoperative CVJ stability assessment is crucial. [ABSTRACT FROM AUTHOR]

Context: Anterior craniocervical junction lesions have always been a challenge for neurosurgeons. Presenting with lower cranial nerve dysfunction and symptoms of brainstem compression, decompression is often required. While posterior approaches offer indirect ventral brainstem decompression, direct decompression via odontoidectomy is necessary when they fail. The transoral and endoscopic endonasal approaches have been explored but come with their own limitations and risks. A novel retropharyngeal approach to the cervical spine has shown promising results with reduced complications. Aims: This study aims to explore the feasibility and potential advantages of the anterior retropharyngeal approach for accessing the odontoid process. Methods and Surgical Technique: To investigate the anatomical aspects of the anterior retropharyngeal approach, a paramedian skin incision was performed below the submandibular gland on two cadaveric specimens. The subcutaneous tissue followed by the platysma is dissected, and the superficial fascial layer is opened. The plane between the vascular sheath laterally and the pharyngeal structures medially is entered below the branching point of the facial vein and internal jugular vein. After reaching the prevertebral plane, further dissection cranially is done in a blunt fashion below the superior pharyngeal nerve and artery. Various anatomical aspects were highlighted during this approach. Results: The anterior, submandibular retropharyngeal approach to the cervical spine was performed successfully on two cadavers highlighting relevant anatomical structures, including the carotid artery and the glossopharyngeal, hypoglossal, and vagus nerves. This approach offered wide exposure, avoidance of oropharyngeal contamination, and potential benefit in repairing cerebrospinal fluid fistulas. Conclusions: For accessing the craniocervical junction, the anterior retropharyngeal approach is a viable technique that offers many advantages. However, when employing this approach, surgeons must have adequate anatomical knowledge and technical proficiency to ensure better outcomes. Further studies are needed to enhance our anatomical variations understanding and reduce intraoperative risks. [ABSTRACT FROM AUTHOR]

Understanding the anatomy of the vertebral artery is essential while manipulating the craniovertebral joint during surgery. Its anomalous course in congenital atlantoaxial dislocation makes it more vulnerable to injury. Preoperative dedicated computed tomography (CT) angiography helps identify the artery's position and plan for surgical procedure. A 13-year-boy presented with neck pain and spastic quadriparesis for 1 year. Radiological imaging of the craniovertebral junction revealed atlantoaxial instability with basilar invagination. His CT angiography of neck and brain vessels revealed an anomalous course of the vertebral artery due to a persistent second intersegment artery. He underwent posterior atlantoaxial fixation after mobilization of the vertebral artery. His clinical condition significantly improved after surgery. We report a case of management of an atlanto axial dislocation with persistent second intersegment artery and describe the role of vertebral artery mobilization during surgery. [ABSTRACT FROM AUTHOR]

Objective: To investigate the characteristics of functional muscle and muscle size in patients with basilar invagination (BI) and explore the effects of atlantoaxial dislocation. Methods: Eighty BI patients (BI group) and 80 age- and sex-matched asymptomatic people (control group) were included. Axial T2 magnetic resonance imaging image was used to measure the cross-sectional area (CSA) and functional CSA (FCSA). The sternocleidomastoid (SCM), longus capitis and longus colli (LCap & LC), trapezius (Trap), splenius capitis (SpCap), splenius cervicis (SpC), semispinalis capitis (SSCap), semispinalis cervicis (SSC), multifidus (MS), levator scapulae (LS) and posterior deep layer muscles (PDLM) were evaluated. Correlations between age, atlantodental interval (ADI), Chamberlain distance and muscles were observed. Results: BI group (39.4 ± 18.4 years; 33 males/47 females) exhibited significantly lower FCSA/CSA ratios than the control group in all extensor and flexor muscles, and presented smaller CSAs on the right and left Trap, SSC, LS, SCM, and left LCap & LC. FCSA/CSA ratios were significantly lower in BI patients with dislocation on the right Trap, SpCap, SpC, SSCap, MS, LS, LCap & LC, and PDLM, and the left SSCap, MS, and LCap & LC than in patients without deformity. Additionally, functional muscles of all parameters decreased with age in BI patients. Excluding children, the Trap, SpC, MS, and LS muscle sizes of BI patients tended to increase with age. ADI and Chamberlain distance tended to correlate negatively with FCSA/CSA ratio. Conclusion: The BI patients, especially those with atlantoaxial dislocation, had less functional muscles compared with the control group. Moreover, their functional muscles decreased with age more obviously. [ABSTRACT FROM AUTHOR]

Down syndrome, also known as trisomy 21, is associated with congenital cervical spine abnormalities, including atlantoaxial instability with or without os odontoideum, atlanto-occipital instability, and hypoplasia of the atlas. Herein, we report a case of Down syndrome complicated by congenital atlanto-occipital dislocation. The patient presented with severe cervical myelopathy at 13 years of age after a 10-year follow-up. Radiography and computed tomography revealed os odontoideum protruding into the foramen magnum and congenital anterior atlanto-occipital dislocation. Additionally, a bifurcated internal occipital crest with a thinned central portion of the occipital bone was noted. Magnetic resonance imaging revealed kyphotic alignment of the spinal cord with severe compression at the foramen magnum level. As the neurological impairment was partially improved by halo vest immobilization, we performed in situ O-C2 fusion with an iliac autograft and decompression of the foramen magnum and posterior arch of C1. An improvement was observed immediately after surgery. Two years after surgery, radiography and computed tomography showed solid O-C2 segment fusion. The accumulation of similar cases is essential for determining the prognosis or optimal treatment for this rare congenital condition. [ABSTRACT FROM AUTHOR]

Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development. In this study, we report on two siblings with craniosynostosis and a homozygous missense pathogenic variant within the IL11RA gene (c.919 T > C; p.W307R). The patients present with craniosynostosis, exophthalmos, delayed tooth eruption, mild platybasia, and a basilar invagination. The p.W307R variant is located within the arginine-tryptophan-zipper within the D3 domain of the IL-11R, a structural element known to be important for the stability of the cytokine receptor. Expression of IL-11R-W307R in cells shows impaired maturation of the IL-11R, no transport to the cell surface and intracellular retention. Accordingly, cells stably expressing IL-11R-W307R do not respond when stimulated with IL-11, arguing for a loss-of-function mutation. In summary, the IL-11R-W307R variant, reported here for the first time to our knowledge, is most likely the causative variant underlying craniosynostosis in these patients. [ABSTRACT FROM AUTHOR]

Purpose: Malformations of the craniovertebral junction (CVJ) range from mild, asymptomatic conditions to severe forms of instability with basilar invagination. Rarely, there have been accounts of forms of so-called paramedian basilar invagination, with abnormal bone masses invading the lateral portion of the foramen magnum. All these entities have been comprehensively classified both from an anatomical and embryological standpoint. Methods: Here, we report a case of a unique CVJ malformation which is not included in any existing classification framework and could represent a novel pathologic entity. We also provide an overview of the pertinent literature. Results: The patient was a 14-year-old boy with a recent onset of spastic tetraparesis. Radiological studies documented a malformation of the atlas which invaginated through the foramen magnum, causing anterolateral medullary incarceration. Surgical treatment involved posterior decompression with resection of the abnormal bone and occipito-cervical fusion. Conclusion: Our report enriches the panorama of CVJ malformations, showing how anatomical knowledge and embryological insights constitute the basis for the correct assessment and treatment of these complex entities. [ABSTRACT FROM AUTHOR]

Background There is evidence that Chiari malformation (CM) and basilar invagination (BI) are largely due to disproportion between the content and volume of the posterior fossa. A recent study identified an increased association between brachycephaly and BI. In several types of craniosynostosis, the posterior fossa volume is smaller than normal, and this is more pronounced in coronal synostosis. The aim of this study is to evaluate the association between CM and BI. Methods The cephalic index (CI) measured on magnetic resonance imaging (MRI) from a sample of patients with craniocervical malformation was compared with that of normal subjects. Results The average CI in the craniovertebral junction malformation (CVJM) group was significantly higher in BI patients than in normal subjects. The BI patients also had the highest CI among the whole sample of patients (p = 0.009). Conclusions In this study, BI patients had the highest CI among patients with CVJM and a significantly higher CI than those in the control group. Our data confirm the association between BI and brachycephaly. [ABSTRACT FROM AUTHOR]

The cranio-vertebral junction (CVJ) is a complex transition region between base of skull and upper cervical spine. This study aimed to evaluate clinical features, radiological findings and various causes of CVJ disorders. It was a hospital-based prospective observational study from November 2021 to November 2022 in the Department of Radiology, RIMS, Ranchi, a tertiary care hospital of Jharkhand, India. A total of 62 cases were studied. Cranio-vertebral junction anomalies are more common in males than females with a ratio of approximately 1.7:1. Second and third decades are most common ages of presentation making up 19 cases in our study. 16 patients were above the age of 60 years. Most common presenting symptom was neck pain which 26 patients were having as their predominant complaint followed by limb weakness. Developmental anomalies were most common accounting for 51% followed by traumatic (15%) and then degenerative (13.33%). History of trauma was present in 15 patients of which 6 had developmental anomalies which were precipitated by trauma and 9 had history of pure trauma without any underlying developmental anomaly. Atlato-axial dislocation (AAD) was the most common CVJ anomaly seen in almost 60% of patients followed by basilar invagination seen in 36.66%. Os odontoideum is more common in males than females. In all 4 patients of CVJ tuberculosis, one had history of active pulmonary tuberculosis while in rest three there was past history of pulmonary tuberculosis. Rheumatoid arthritis was present in all patients for a duration of more than 5 yrs. AAD was found in all whereas basilar invagination was seen in 2 patients. Radiographs of the cervical spine should be performed 2 years after diagnosis of Rhematoid arthritis(RA) and periodically thereafter. Degenerative changes affecting the cervical spine may mimic CVJ anomalies. [ABSTRACT FROM AUTHOR]

Background: Chiari malformation type 1 (CM1) is a structural abnormality in the skull and cerebellum, causing cerebellar tonsils to shift downward. Decompression of the posterior fossa is a common surgical method to relieve symptoms and prevent neurological deterioration. After posterior fossa decompression (PFD), individuals with CM1 were more likely to have respiratory arrest. Here, we present, for the first time, a comprehensive overview of the potential risk factors and causes of respiratory arrest following PFD. Methods: A review of the literature highlighting the risk factors for postoperative respiratory arrest in CM1 patients was conducted in the databases of PubMed, Medline, and Google Scholar. Results: Patients with syringomyelia and CM1 are at increased risk for respiratory arrest due to a number of factors, including impaired respiratory mechanics, central respiratory center dysfunction from edema or ischemia, intraoperative brain stem ischemia, and delayed gastric emptying from autonomic dysfunction. Occipitalization of the first cervical vertebra, basilar impression, and fusion of C2‑C3 are all risk factors for respiratory arrest. Conclusion: Implications for CM1 patient care and prospects for further investigation of postoperative respiratory arrest’s causes and risk factors were discussed. [ABSTRACT FROM AUTHOR]

Background. The incidence of CM-I is estimated to be 1/1,000 births. In rare cases, CM-I is complicated by associations with other malformations of the craniocervical junction, including mainly Basilar invagination (BI). Chiari malformation (CM) is characterized by a congenital malformation of the posterior cranial fossa with cerebellar tonsils herniation through the foramen magnum, probably due to the underdevelopment of the posterior bony skeleton (exo-occipital and supraoccipital bones). CM may be complicated by a variety of other malformations, including platybasia, basilar invagination and occipitalization, although syringomyelia (SM) is the most commonly observed. Case Report. A girl, 14 years old came with a chief complaint of headache, which is exacerbated whenever the patient coughed or sneezed. The patient also complained about neck pain and a tingling sensation in her hand. A history of vomiting or seizure has not been found. A history of muscle weakness was not found. On physical examination, the patient has a GCS score of 15 on admission, with normal muscle tone and normal reflexes. The patient has a sensory deficit, on the level below C4. The patient underwent CT Scan and MRI whole spine, Chiari 1 malformation and platybasia were diagnosed. The patient underwent posterior fossa decompression, and postoperatively symptoms of Chiari and sensory deficit gradually improved. Discussion. As an association with this syndrome, there is also basilar invagination as shown by flat basioccipt (platybasia) and upward odontoid projection. hydrocephalus [3]. Virchow coined the term 'platybasia' to describe an abnormal flattening of the skull base, a defect which he attributed to abnormal bone development. In addition to the flattening of the base of the skull, there was upward displacement (impression) of the basilar and condylar portions of the occipital bone, which caused infolding, or impression of the foramen magnum, reduction of the posterior fossa, and consequent protrusion of the upper cervical spine into the anterior brainstem, with neurological signs. The symptomatology presented by CM-1 patients is diverse, and its severity does not correlate with the degree of TH, with some asymptomatic cases presenting with prominent TH. The onset of symptoms generally develops gradually, however, trauma, coughing/sneezing or pregnancy can also precipitate the event. The most common treatment for these patients is surgical PCF decompression (alone or with duraplasty), although cerebellar tonsillectomy, cervical laminectomy, and suboccipital cranioplasty are also applied. The goal of these surgical procedures is to decompress the foramen magnum and increase the subarachnoid space in order to avoid the impaction of the cerebellar tonsils, reestablish the CSF flow and reverse the symptoms. Conclusion. This patient was diagnosed with Chiari 1 malformation and platybasia, as suggested in the literature, posterior fossa decompression was done and the patient improved clinically. [ABSTRACT FROM AUTHOR]

Purpose: Traditionally, less rigid fixation techniques have been applied to the pediatric cervical spine. There is a lack of long-term outcome data for rigid fixation techniques. The purpose of this study was to define the clinical outcome and safety of posterior instrumented fusion in the pediatric population using adult posterior instrumentation. Methods: A multicenter, retrospective review of pediatric patients who underwent posterior cervical fusion using a 3.5 mm posterior cervical system for any indication was performed. Outcome parameters included complications, revision and fusion rates, operative time (OR), blood loss, and postoperative neurologic status. Outcomes were compared between patient groups (posterior only versus anterior/posterior approach, short versus intermediate versus long fusion, and between different etiologies) using Mann–Whitney and chi-square test. Results: Seventy-nine patients with a mean age of 9.9 years and mean follow-up of 2.8 years were included. At baseline 44 (56%) had an abnormal neurologic exam. Congenital deformities and basilar invagination were the most common indications for surgery. Posterior-only surgery was performed in 71 (90%) cases; mean number of levels fused was 4 (range 1–15). Overall, 4 (5%) operative complications and 4 (5%) revisions were reported at an average postoperative time of 2.6 years. Neurologic status remained unchanged in 74%, improved in 23%, and worsened in 3%. When comparing outcome measures between the various groups, 2 significant differences were found: OR was longer in the anterior/posterior approach group and decline of neuro status was more frequent in the long fusion group. Conclusion: Posterior cervical fusion with an adult 3.5 mm posterior cervical system was safe in this cohort of 79 pediatric patients irrespective of surgical technique, fusion length, and etiology, resulting in a high fusion and low complication/revision rate. [ABSTRACT FROM AUTHOR]

Osteogenesis Imperfecta (OI) is a disease that causes bone fragility and deformities, affecting both the cranial base and the craniocervical junction, and may lead to other neurological disorders. A retrospective cross-sectional study was carried out based on cephalometric analysis of the cranial base in a sample of patients with OI, in lateral skull radiographs and magnetic resonance imaging (MRI), comparing them with a sample of age-matched controls. When the different variables of the craniocervical junction were analyzed, significance was found in comparisons with the different age groups. All measurements of the variables studied stabilized as growth progressed. For most of the variables, the severity of the disease influences the measurements of the skull base, with statistically significant differences. Both age and severity of the disease are factors that directly influence the anatomy of the craniocervical junction in these patients and may serve as indicators in the early detection and prevention of other derived alterations. [ABSTRACT FROM AUTHOR]