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1.
Am J Hum Genet ; 111(5): 939-953, 2024 05 02.
Artículo en Inglés | MEDLINE | ID: mdl-38608674

RESUMEN

Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens. Screening for differentially regulated genes between Homo sapiens and extinct relatives revealed 13 candidate genes associated with basicranial development, with TBX1, implicated in DiGeorge syndrome, playing a pivotal role. Epigenetic markers and in silico analyses prioritized rs41298798 within a TBX1 intron for functional validation. CRISPR editing revealed that the 41-base-pair region surrounding rs41298798 modulates gene expression at 22q11.21. The derived allele of rs41298798 acts as an allele-specific enhancer mediated by E2F1, resulting in increased TBX1 expression levels compared to the ancestral allele. Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome. Phenotypic differences associated with TBX1 deficiency are observed between Homo sapiens and Neanderthals (Homo neanderthalensis). In conclusion, the regulatory divergence of TBX1 contributes to the formation of skull base and vertebral structures found in Homo sapiens.


Asunto(s)
Polimorfismo de Nucleótido Simple , Proteínas de Dominio T Box , Proteínas de Dominio T Box/genética , Proteínas de Dominio T Box/metabolismo , Humanos , Animales , Ratones , Síndrome de DiGeorge/genética , Hombre de Neandertal/genética , Ratones Noqueados , Cráneo/anatomía & histología , Alelos , Columna Vertebral/anatomía & histología , Columna Vertebral/anomalías , Cromosomas Humanos Par 22/genética , Fenotipo
2.
Adv Tech Stand Neurosurg ; 50: 295-305, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38592535

RESUMEN

Surgical approaches directed toward craniovertebral junction (CVJ) can be addressed to the ventral, dorsal, and lateral aspects through a variety of 360° surgical corridors Herein, we report features, advantages, and limits of the updated technical support in CVJ surgery in clinical setting and dissection laboratories enriched by our preliminary surgical results of the simultaneous application of O-arm intraoperative neuronavigation and imaging system along with the 3D-4K EX in TOA for the treatment of CVJ pathologies.In the past 4 years, eight patients harboring CVJ compressive pathologies underwent one-step combined anterior neurosurgical decompression and posterior instrumentation and fusion technique with the aid of exoscope and O-arm. In our equipped Cranio-Vertebral Junction Laboratory, we use fresh cadavers (and injected "head and neck" specimens) whose policy, protocols, and logistics have already been elucidated in previous works. Five fresh-frozen adult specimens were dissected adopting an FLA. In these specimens, a TOA was also performed, as well as a neuronavigation-assisted comparison between transoral and transnasal explorable distances.A complete decompression along with stable instrumentation and fusion of the CVJ was accomplished in all the cases at the maximum follow-up (mean: 25.3 months). In two cases, the O-arm navigation allowed the identification of residual compression that was not clearly visible using the microscope alone. In four cases, it was not possible to navigate C1 lateral masses and C2 isthmi due to the angled projection unfitting with the neuronavigation optical system, so misleading the surgeon and strongly suggesting changing surgical strategy intraoperatively. In another case (case 4), it was possible to navigate and perform both C1 lateral masses and C2 isthmi screwing, but the screw placement was suboptimal at the immediate postoperative radiological assessment. In this case, the hardware displacement occurred 2 months later requiring reoperation.


Asunto(s)
Imagenología Tridimensional , Cirugía Asistida por Computador , Adulto , Humanos , Tomografía Computarizada por Rayos X , Tornillos Óseos , Cadáver
3.
Adv Tech Stand Neurosurg ; 53: 217-234, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39287810

RESUMEN

OBJECTIVE: Database review (1978-2019) is to identify the cause of os odontoideum, its presentation, associated abnormalities, and management recommendations. METHODS AND MATERIALS: Review of referral database of 514 patients and 258 surgically treated patients ages 4-64 years. Detailed history of early childhood trauma and initial encounter record retrieval were made. Patients had dynamic motion radiographs, dynamic motion MRI and also CT to identify pathology and reducibility of craniocervical instability. Preoperative crown halo traction was made before the year 2000 except in children. Intraoperative traction with O-arm/CT documentation was made since 2001. Reducible and partially reducible cases underwent halo traction under general anesthesia distraction, dorsal stabilization, and rib graft augmentation for fusion. Later semi-rigid instrumentation and subsequently rigid instrumentation was made. Irreducible compression of cervicomedullary junction was treated with ventral decompression. The follow up was 3-20 years. RESULTS: Database; acute worsening after trauma 262, insidious neurological deficit 252. Minimal/normal motion with neurological deficit was present in 18, previous C1-C2 fusion with worsening in 18. 28 patients of 64 without treatment worsened in 4 years. An intact odontoid process was seen in 52 children of 156 who had early craniovertebral junction trauma and later developed os odontoideum. SURGICAL EXPERIENCE: There were 174 patients with reducible lesions and partially reducible were 22. Irreducible lesions were 62. Of the reducible, 50 underwent transarticular C1-C2 fusion, 26 C1 lateral mass, and C2 pars screw fixation. 182 had occipitocervical fusion (19 had extension of previous C1-C2 fusion and 43 after transoral decompression). 62 with irreducible ventral compression of the cervicomedullary junction underwent transoral decompression; 43 had a trapped transverse ligament between the os and C2 body and 19 previous C1-C2 fusions. Compression was by the axis body, os odontoideum, and the posterior C2 arch. Syndromic and skeletal/connective tissue abnormalities were found in 86 (36%). COMPLICATIONS: 2 patients worsened, age 10 and 62, due to failure of semi-rigid construct. CONCLUSIONS: The etiology of os odontoideum is multifactorial considering the associated abnormalities, reports of congenital-familiar occurrence, and early childhood craniovertebral trauma which also plays a role in the etiology. Patients with reducible lesions require stabilization. Asymptomatic patients are at risk for later instability. Patients who underwent childhood C1-C2 fusion must be followed for later problems. The irreducibility was seen due to trapped transverse ligament, pannus, or previous dorsal C1-C2 fusion.


Asunto(s)
Bases de Datos Factuales , Apófisis Odontoides , Humanos , Adolescente , Niño , Persona de Mediana Edad , Adulto , Preescolar , Adulto Joven , Femenino , Masculino , Apófisis Odontoides/cirugía , Fusión Vertebral/métodos , Descompresión Quirúrgica/métodos , Articulación Atlantoaxoidea/cirugía
4.
Childs Nerv Syst ; 40(6): 1867-1871, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38448674

RESUMEN

Craniocervical Pott's disease is rare, particularly in the pediatric population. The importance of motion preservation in this age group renders managing this disease even more challenging. The literature regarding craniocervical Pott's disease comes from endemic regions. Most authors will agree on early surgical intervention in cases of neurological compromise or severe instability, while patients with minimal symptoms will do well with conservative management. Controversy remains when patients are mildly symptomatic but with imaging findings concerning for significant instability. Here, we present the case of a 15-year-old male presenting with craniocervical tuberculoma with radiographic instability and advanced bony destruction without overt neurological deficits. He was managed with a rigid cervical collar and completed 1 year of anti-tuberculosis therapy. At 1-year follow-up, he had an intact range of motion, was pain-free, and remained neurologically intact. Although this case suggests good outcomes with conservative management are possible, more long-term follow-up is required to assess the need for delayed surgical intervention in this unique population.


Asunto(s)
Tratamiento Conservador , Tuberculosis de la Columna Vertebral , Humanos , Masculino , Adolescente , Tratamiento Conservador/métodos , Tuberculosis de la Columna Vertebral/terapia , Tuberculosis de la Columna Vertebral/diagnóstico por imagen , Tuberculosis de la Columna Vertebral/cirugía , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/cirugía , Antituberculosos/uso terapéutico
5.
Childs Nerv Syst ; 40(6): 1943-1947, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38374472

RESUMEN

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.


Asunto(s)
Malformación de Arnold-Chiari , Descompresión Quirúrgica , Cuadriplejía , Tracción , Humanos , Femenino , Malformación de Arnold-Chiari/cirugía , Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/diagnóstico por imagen , Adolescente , Descompresión Quirúrgica/métodos , Descompresión Quirúrgica/efectos adversos , Cuadriplejía/etiología , Cuadriplejía/cirugía , Tracción/efectos adversos , Tracción/métodos , Resultado del Tratamiento
6.
Eur Spine J ; 33(2): 438-443, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37934268

RESUMEN

PURPOSE: Endoscopic endonasal approach (EEA) is the safest and most effective technique for odontoidectomy. Nevertheless, this kind of approach is yet not largely widespread. The aim of this study is to share with the scientific community some tips and tricks with our ten-year-old learned experience in endoscopic endonasal odontoidectomy (EEO), which remains a challenging surgical approach. MATERIAL AND METHODS: Our case series consists of twenty-one (10 males, 11 females; age range of 34-84 years) retrospectively analyzed patients with ventral spinal cord compression for non-reducible CVJ malformation, treated with EEA from July 2011 to March 2019. RESULTS: The results have recently been reported in a previous paper. The only intraoperative complication observed was intraoperative cerebrospinal fluid (CSF) leak (9.5%), without any sign of post-operative CSF leak. CONCLUSIONS: Considering our experience, EEO represents a valid and safe technique to decompress neural cervical structures. Despite its technical complexity, mainly due to the use of endoscope and the challenging surgical area, with this study we encourage the use of EEO displaying our experience-based surgical tips and tricks.


Asunto(s)
Descompresión Quirúrgica , Endoscopía , Femenino , Masculino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Niño , Estudios Retrospectivos , Pérdida de Líquido Cefalorraquídeo/etiología , Pérdida de Líquido Cefalorraquídeo/cirugía , Médula Espinal
7.
Neurosurg Focus ; 56(1): E13, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38163338

RESUMEN

OBJECTIVE: The objective of this study was to analyze the potential and convenience of using mixed reality as a teaching tool for craniovertebral junction (CVJ) anomaly pathoanatomy. METHODS: CT and CT angiography images of 2 patients with CVJ anomalies were used to construct mixed reality models in the HoloMedicine application on the HoloLens 2 headset, resulting in four viewing stations. Twenty-two participants were randomly allocated into two groups, with each participant rotating through all stations for 90 seconds, each in a different order based on their group. At every station, objective questions evaluating the understanding of CVJ pathoanatomy were answered. At the end, subjective opinion on the user experience of mixed reality was provided using a 5-point Likert scale. The objective performance of the two viewing modes was compared, and a correlation between performance and participant experience was sought. Subjective feedback was compiled and correlated with experience. RESULTS: In both groups, there was a significant improvement in median (interquartile range [IQR]) objective performance with mixed reality compared with DICOM: 1) group A: case 1, median 6 (IQR 6-7) versus 5 (IQR 3-6), p = 0.009; case 2, median 6 (IQR 6-7) versus 5 (IQR 3-6), p = 0.02; 2) group B: case 1, median 6 (IQR 5-7) versus 4 (IQR 2-5), p = 0.04; case 2, median 6 (IQR 6-7) versus 5 (IQR 3-7), p = 0.03. There was significantly higher improvement in less experienced participants in both groups for both cases: 1) group A: case 1, r = -0.8665, p = 0.0005; case 2, r = -0.8002, p = 0.03; 2) group B: case 1, r = -0.6977, p = 0.01; case 2, r = -0.7417, p = 0.009. Subjectively, mixed reality was easy to use, with less disorientation due to the visible background, and it was believed to be a useful teaching tool. CONCLUSIONS: Mixed reality is an effective teaching tool for CVJ pathoanatomy, particularly for young neurosurgeons and trainees. The versatility of mixed reality and the intuitiveness of the user experience offer many potential applications, including training, intraoperative guidance, patient counseling, and individualized medicine; consequently, mixed reality has the potential to transform neurosurgery.


Asunto(s)
Realidad Aumentada , Neurocirugia , Humanos , Procedimientos Neuroquirúrgicos/métodos , Neurocirujanos , Competencia Clínica
8.
Neurosurg Focus ; 56(5): E8, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38691866

RESUMEN

OBJECTIVE: Skull base chordomas are rare, locally osseo-destructive lesions that present unique surgical challenges due to their involvement of critical neurovascular and bony structures at the craniovertebral junction (CVJ). Radical cytoreductive surgery improves survival but also carries significant morbidity, including the potential for occipitocervical (OC) destabilization requiring instrumented fusion. The published experience on OC fusion after CVJ chordoma resection is limited, and the anatomical predictors of OC instability in this context remain unclear. METHODS: PubMed and Embase were systematically searched according to the PRISMA guidelines for studies describing skull base chordoma resection and OC fusion. The search strategy was predefined in the authors' PROSPERO protocol (CRD42024496158). RESULTS: The systematic review identified 11 surgical case series describing 209 skull base chordoma patients and 116 (55.5%) who underwent OC instrumented fusion. Most patients underwent lateral approaches (n = 82) for chordoma resection, followed by midline (n = 48) and combined (n = 6) approaches. OC fusion was most often performed as a second-stage procedure (n = 53), followed by single-stage resection and fusion (n = 38). The degree of occipital condyle resection associated with OC fusion was described in 9 studies: total unilateral condylectomy reliably predicted OC fusion regardless of surgical approach. After lateral transcranial approaches, 4 studies cited at least 50%-70% unilateral condylectomy as necessitating OC fusion. After midline approaches-most frequently the endoscopic endonasal approach (EEA)-at least 75% unilateral condylectomy (or 50% bilateral condylectomy) led to OC fusion. Additionally, resection of the medial atlantoaxial joint elements (the C1 anterior arch and tip of the dens), usually via EEA, reliably necessitated OC fusion. Two illustrative cases are subsequently presented, further exemplifying how the extent of CVJ bony elements removed via EEA to achieve complete chordoma resection predicts the need for OC fusion. CONCLUSIONS: Unilateral total condylectomy, 50% bilateral condylectomy, and resection of the medial atlantoaxial joint elements were the most frequently described independent predictors of OC fusion in skull base chordoma resection. Additionally, consistent with the occipital condyle harboring a significantly thicker joint capsule at its posterolateral aspect, an anterior midline approach seems to tolerate a greater degree of condylar resection (75%) than a lateral transcranial approach (50%-70%) prior to generating OC instability.


Asunto(s)
Vértebras Cervicales , Cordoma , Hueso Occipital , Neoplasias de la Base del Cráneo , Fusión Vertebral , Humanos , Cordoma/cirugía , Cordoma/diagnóstico por imagen , Neoplasias de la Base del Cráneo/cirugía , Neoplasias de la Base del Cráneo/diagnóstico por imagen , Hueso Occipital/cirugía , Hueso Occipital/diagnóstico por imagen , Fusión Vertebral/métodos , Vértebras Cervicales/cirugía , Vértebras Cervicales/diagnóstico por imagen , Femenino , Articulación Atlantooccipital/cirugía , Articulación Atlantooccipital/diagnóstico por imagen , Masculino , Adulto , Persona de Mediana Edad
9.
Surg Radiol Anat ; 46(11): 1783-1788, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39292255

RESUMEN

PURPOSE: To describe a case of an anomalous posterosuperior course of the V3 segment of the right vertebral artery (VA) that penetrated the occipital bone (wall of the jugular foramen). METHODS: A 33-year-old healthy woman underwent cranial magnetic resonance (MR) imaging and MR angiography from the upper cervical to the intracranial region using a 3-Tesla scanner to screen for asymptomatic brain lesions, including cerebrovascular diseases. RESULTS: MR angiography showed no pathological arterial lesions such as aneurysms; however, there was an anomalous posterosuperior course of the V3 segment of the right VA. On MR angiographic source images and coronal reformatted images, the right VA was observed to penetrate the occipital bone lateral to the right hypoglossal canal and is located on the inferoposteromedial wall of the right jugular foramen and enter the posterior fossa at a higher level than the foramen magnum. CONCLUSION: We present a case in which the right VA showed an anomalous posterosuperior course at the craniovertebral junction. It is extremely rare for a VA to take a higher course. To our knowledge, this is the first report of such a VA variation in the relevant English-language literature. We speculated that the right VA of our patient was formed by the persistence of one more cephalad primitive artery than the first intersegmental artery, not by the persistence of the primitive hypoglossal artery. Careful observation of MR angiographic source is useful and important for identifying the VA penetrating the occipital bone.


Asunto(s)
Angiografía por Resonancia Magnética , Hueso Occipital , Arteria Vertebral , Humanos , Femenino , Arteria Vertebral/anomalías , Arteria Vertebral/diagnóstico por imagen , Adulto , Hueso Occipital/diagnóstico por imagen , Hueso Occipital/anomalías , Variación Anatómica , Foramina Yugular/diagnóstico por imagen
10.
Artículo en Ruso | MEDLINE | ID: mdl-38549409

RESUMEN

OBJECTIVE: To describe own experience of treating patients with extramedullary tumors at the level of craniovertebral junction using minimally invasive surgical approaches. MATERIAL AND METHODS: The study included 29 patients who underwent minimally invasive microsurgical resection of extramedullary tumors at the level of craniovertebral junction. We analyzed the main clinical and surgical parameters. RESULTS: Gross total resection was achieved in most patients with high degree of safety. Two patients required redo surgery due to CSF leakage and soft tissue cyst. Mean length of hospital-stay was 7 days. VAS score of pain syndrome at discharge was 2 points and 0 points after 3 months. No significant differences in neurophysiological monitoring indicators were observed (p=0.76). CONCLUSION: Minimally invasive posterior approaches to extramedullary tumors at the level of craniovertebral junction can significantly reduce surgical trauma with equal extent of resection.


Asunto(s)
Neoplasias de la Médula Espinal , Humanos , Neoplasias de la Médula Espinal/cirugía , Neoplasias de la Médula Espinal/patología , Procedimientos Quirúrgicos Mínimamente Invasivos , Procedimientos Neuroquirúrgicos , Resultado del Tratamiento , Estudios Retrospectivos
11.
Neuroradiology ; 65(1): 215-223, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36394613

RESUMEN

PURPOSE: To describe vertebral artery (VA) variation in patients with or without osseous anomalies at congenital craniovertebral junction (CVJ). METHODS: In the present study, we retrospectively analyzed 258 patients with VA variation who underwent three-dimensional computed tomography angiography (3D CTA) in our hospital from March 2017 to October 2019. RESULTS: Among 258 patients, 180 were accompanied by skeleton structural malformation, including 105 cases of occipital ossification of the atlas, 8 cases of the bipartite atlas, 7 cases of hypoplasia of the posterior arch of the atlas, 45 cases of C2/3 congenital fusion, 2 cases of C2/3/4 congenital fusion, and 13 cases of congenital os odontoid. VA variation was divided into type A (VA variation in the CVJ area without osseous anomalies) and type B (VA variation in the CVJ area with osseous anomalies). There are totally 10 subtypes, including type A1 (atlas occipitalization with VA entrance approach close to middle line, 20.2%); type A2 (atlas occipitalization with VA entrance approach far from middle line, 30.2%); type A3 (first intersegmental VA in C1-C2, 1.9%); type A4 (fenestration of the VA, 2.3%); type A5 (VA bulging type, 6.6%); type A6 (VA exposures with the absence of the posterior atlas arch, 2.3%); type A7 (C2 inner wall type, 0.4%); type A8 (single vertebral artery, 2.3%); type B1 (posterior ponticuli, 2.7%); and type B2 (high-riding VA, 31.4%). CONCLUSION: This study is expected to take the lead in the most comprehensive classification of VA variation.


Asunto(s)
Angiografía por Tomografía Computarizada , Arteria Vertebral , Humanos , Arteria Vertebral/diagnóstico por imagen , Arteria Vertebral/anomalías , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Angiografía
12.
Adv Tech Stand Neurosurg ; 46: 149-173, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37318574

RESUMEN

The term Chiari malformation refers to a heterogeneous group of anatomical abnormalities at the craniovertebral junction. Chiari malformation type 1 (CM1) refers to the abnormal protrusion of cerebellar tonsils through the foramen magnum and is by far the commonest type. Its prevalence is estimated approximately 1%; it is more common in women and is associated with syringomyelia in 25-70% of cases. The prevalent pathophysiological theory proposes a morphological mismatch between a small posterior cranial fossa and a normally developed hindbrain that results in ectopia of the tonsils.In most people, CM1 is asymptomatic and diagnosed incidentally. In symptomatic cases, headache is the cardinal symptom. The typical headache is induced by Valsalva-like maneuvers. Many of the other symptoms are nonspecific, and in the absence of syringomyelia, the natural history is benign. Syringomyelia manifests with spinal cord dysfunction of varying severity. The approach to patients with CM1 should be multidisciplinary, and the first step in the management is phenotyping the symptoms, because they may be due to other pathologies, like a primary headache syndrome. Magnetic resonance imaging, which shows cerebellar tonsillar decent 5 mm or more below the foramen magnum, is the gold standard investigative modality. The diagnostic workup may include dynamic imaging of the craniocervical junction and intracranial pressure monitoring.The management of CM1 is variable and sometimes controversial. Surgery is usually reserved for patients with disabling headaches or neurological deficits from the syrinx. Surgical decompression of the craniocervical junction is the most widely used procedure. Several surgical techniques have been proposed, but there is no consensus on the best treatment strategy, mainly due to lack of high-quality evidence. The management of the condition during pregnancy, restriction to lifestyle related to athletic activities, and the coexistence of hypermobility require special considerations.


Asunto(s)
Malformación de Arnold-Chiari , Siringomielia , Humanos , Adulto , Femenino , Siringomielia/diagnóstico por imagen , Malformación de Arnold-Chiari/complicaciones , Foramen Magno/cirugía , Imagen por Resonancia Magnética/efectos adversos , Descompresión Quirúrgica/efectos adversos , Cefalea/etiología
13.
Eur Spine J ; 32(7): 2615-2621, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36527509

RESUMEN

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.


Asunto(s)
Malformación de Arnold-Chiari , Platibasia , Fusión Vertebral , Masculino , Humanos , Adolescente , Foramen Magno/diagnóstico por imagen , Foramen Magno/cirugía , Foramen Magno/patología , Descompresión Quirúrgica , Malformación de Arnold-Chiari/diagnóstico por imagen , Malformación de Arnold-Chiari/cirugía
14.
Eur Spine J ; 32(6): 2157-2163, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-37140641

RESUMEN

PURPOSE: To investigate the incidences, causes, and risk factors for unplanned reoperation within 30 days of craniovertebral junction (CVJ) surgery. METHODS: From January 2002 to December 2018, a retrospective analysis of patients who underwent CVJ surgery at our institution was conducted. The demographics, history of the disease, medical diagnosis, approach and type of operation, surgery duration, blood loss, and complications were recorded. Patients were divided into the no-reoperation group and the unplanned reoperations group. Comparison between two groups in noted parameters was analyzed to identify the prevalence and risk factors of unplanned revision and a binary logistic regression was performed to confirm the risk factors. RESULTS: Of 2149 patients included, 34(1.58%) required unplanned reoperation after the initial surgery. The causes for unplanned reoperation contained wound infection, neurologic deficit, improper screw placement, internal fixation loosens, dysphagia, cerebrospinal fluid leakage, and posterior fossa epidural hematomas. No statistical difference was found in demographics between two groups (P > 0.05). The incidence of reoperation of OCF was significantly higher than that of posterior C1-2 fusion (P = 0.002). In terms of diagnosis, the reoperation rate of CVJ tumor patients was significantly higher than that of malformation patients, degenerative disease patients, trauma patients, and other patients (P = 0.043). The binary logistic regression confirmed that different disease, fusion segment (posterior) and surgery time were independent risk factors. CONCLUSIONS: The unplanned reoperation rate of CVJ surgery was 1.58% and the major causes were implant-related failures and wound infection. Patients with posterior occipitocervical fusion or diagnosed with CVJ tumors had an increased risk of unplanned reoperation.


Asunto(s)
Neoplasias , Infección de Heridas , Humanos , Estudios Retrospectivos , Incidencia , Factores de Riesgo , Reoperación , Neoplasias/cirugía , Infección de Heridas/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía
15.
Acta Neurochir Suppl ; 130: 157-167, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37548735

RESUMEN

The vertebral artery (VA) has an intimate relationship with the bones of the craniovertebral junction. An exact understanding of the VA anatomy in general and in the specific surgical case in particular is absolutely necessary in order to avoid intraoperative vascular injury. The course of the VA on the inferior aspect of the superior facet of the C2 vertebra makes it susceptible to damage during transarticular and interarticular fixation with the screw insertion in the adjacent lateral mass. The consequences of the intraoperative VA injury will depend on the patency of other arteries supplying the brain. In case of this complication, quick decision-making is essential to avoid excessive blood loss and to preserve adequate cerebral blood flow.


Asunto(s)
Articulación Atlantoaxoidea , Fusión Vertebral , Arteria Vertebral/diagnóstico por imagen , Arteria Vertebral/cirugía , Articulación Atlantoaxoidea/diagnóstico por imagen , Articulación Atlantoaxoidea/cirugía , Tornillos Óseos , Fusión Vertebral/métodos
16.
Acta Neurochir Suppl ; 135: 259-264, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38153479

RESUMEN

The craniocervical junction refers to an area from the line separating the middle and lower third of the clivus to the base of the dens (anteriorly) and from the posterior edge of the occipital foramen to the spinous process of C2 (posteriorly). Here, the clival region is a challenging surgical target surrounded by a complex neurovascular architecture. Historically, mainly the complex, and high-risk, transmucosal approaches have been the corridors of choice when targeting this region. Nevertheless, the inherent broad anatomic and pathological variants have shown the need for more-malleable and wider approaches. Thus, MacAfee's established retropharyngeal approach has been simplified in parallel to the application of endoscopic surgery, therefore providing access to the clival region through a low-risk retropharyngeal space when compared to homologous anterior transmucosal approaches. The following review analyzes the literature that has specifically described the craniocervical junction after reaching the clivus (or at least after odontoidectomy) through the retropharyngeal corridor, from the perspective of the open approach or the endoscopic submandibular approach.


Asunto(s)
Vermis Cerebeloso , Disección , Fosa Craneal Posterior/cirugía
17.
Pediatr Radiol ; 53(12): 2323-2344, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37674051

RESUMEN

Children living with achondroplasia are at an increased risk of developing neurological complications, which may be associated with acute and life-altering events. To remediate this risk, the timely acquisition of effective neuroimaging that can help to guide clinical management is essential. We propose imaging protocols and follow-up strategies for evaluating the neuroanatomy of these children and to effectively identify potential neurological complications, including compression at the cervicomedullary junction secondary to foramen magnum stenosis, spinal deformity and spinal canal stenosis. When compiling these recommendations, emphasis has been placed on reducing scan times and avoiding unnecessary radiation exposure. Standardized imaging protocols are important to ensure that clinically useful neuroimaging is performed in children living with achondroplasia and to ensure reproducibility in future clinical trials. The members of the European Society of Pediatric Radiology (ESPR) Neuroradiology Taskforce and European Society of Neuroradiology pediatric subcommittee, together with clinicians and surgeons with specific expertise in achondroplasia, wrote this opinion paper. The research committee of the ESPR also endorsed the final draft. The rationale for these recommendations is based on currently available literature, supplemented by best practice opinion from radiologists and clinicians with subject-specific expertise.


Asunto(s)
Acondroplasia , Radiología , Niño , Humanos , Lactante , Foramen Magno/cirugía , Reproducibilidad de los Resultados , Constricción Patológica , Acondroplasia/diagnóstico por imagen
18.
Acta Neurochir Suppl ; 135: 243-246, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38153476

RESUMEN

BACKGROUND: The introduction of recent innovations in the field of intraoperative imaging and neuronavigation, such as the O-arm StealthStation, allows for obtaining crucial intraoperative data by performing safer and controlled surgical procedures. As part of the improvement of surgical visual magnification and wide expansion of surgical corridors, the 3D 4 K exoscope (EX) has nowadays become an interesting and useful tool. The transoral approach (TOA) is the historical gold-standard direct microsurgical route to ventral craniovertebral junction (CVJ). METHODS: We herein report our experience, consisting of ten cases via TOA concerning the simultaneous application of an O-arm with a StealthStation navigation system (Medtronic, Memphis, TN) and an imaging system, along with the 3D 4 K exoscopes in the TOA, for the treatment of CVJ pathologies. RESULTS: No intraoperative neurophysiological changes or postoperative infections occurred, but neurological improvement was evident in all the patients. A complete decompression and a stable instrumentation and fusion of the CVJ were accomplished in all cases at the maximum follow-up time. CONCLUSIONS: With EX, the role of the surgeon becomes self-sufficient with better individual surgical freedom compared to endoscopic surgery and excellent 3D vision and magnification. O-arms offer absolutely reliable intraoperative support for more-effective CVJ decompression. Nevertheless, with O-arm-assisted neuronavigation, it can be difficult to navigate C1 lateral masses and C2 isthmi, and converting 3D into 2D real-time navigation can be quite complicated. Finally, the combination of an EX with an O-arm appears more time-consuming compared to the old-fashion one.


Asunto(s)
Imagenología Tridimensional , Cirugía Asistida por Computador , Humanos , Tomografía Computarizada por Rayos X , Neuronavegación , Complicaciones Posoperatorias
19.
Neurosurg Focus ; 54(3): E12, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36857785

RESUMEN

OBJECTIVE: The resection of an upwardly migrated odontoid is most widely performed via an anterior endoscopic endonasal approach after the addition of posterior occipitocervical instrumentation. In patients with craniovertebral junction (CVJ) anomalies like basilar invagination (BI), surgery is usually achieved in two separate stages. However, the authors have recently introduced a novel posterior transaxis approach in which all the therapeutic goals of the surgery can be safely and effectively accomplished in a single-stage procedure. The aim of the current study was to compare the widely used anterior and the recently introduced posterior approaches on the basis of objective clinical results in patients who underwent odontoid resection for BI. METHODS: Patients with BI who had undergone odontoid resection were retrospectively reviewed in two groups. The first group (n = 7) consisted of patients who underwent anterior odontoidectomy via the standard anterior transnasal route, and the second group (n = 6) included patients in whom the novel transaxis approach was performed. Patient characteristics, neurological conditions, and modified Rankin Scale (mRS) scores at admission were evaluated. Operative time, changes in intraoperative neurophysiological monitoring, blood loss during surgery, odontoid resection rate, postoperative complications, and mortality were compared between the patient groups. RESULTS: Data were retrospectively reviewed for 13 patients who underwent odontoid resection, posterior CVJ decompression, and occipitocervical instrumentation at the Ankara University School of Medicine Department of Neurosurgery between 2009 and 2022. In the first group (n = 7), patients who underwent anterior odontoidectomy via the standard endonasal route, two serious complications were observed, pneumocephaly and basilar artery injury. In the second group (n = 6), patients in whom the novel transaxis approach was performed, only one complication was observed, occipital plate malposition. CONCLUSIONS: This study represents the results of what is to the authors' knowledge the first comparison of a novel approach with a widely used surgical approach to odontoid resection in patients with BI. The preliminary data support the successful utility of the transaxis approach for odontoid resection that meets all the operative therapeutic demands in a single-stage operation. Considering the diminished surgical risks and operative time, the transaxis approach may be regarded as a primary approach for the treatment of BI.


Asunto(s)
Apófisis Odontoides , Humanos , Estudios Retrospectivos , Procedimientos Neuroquirúrgicos , Complicaciones Posoperatorias , Arteria Basilar
20.
Acta Neurochir (Wien) ; 165(5): 1161-1170, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36781463

RESUMEN

BACKGROUND: Occipitocervical fusion (OCF) is a procedure performed for multiple upper cervical pathologies. A common postprocedural complication of OCF is dysphagia, which has been linked to the narrowing of the pharyngeal space due to fixation in a hyper-flexed angle. Postoperative dysphagia is linked to reduced quality of life, prolonged hospital stay, aspiration pneumonia, and increased mortality. This has led to investigations of the association between sagittal radiographic angles and dysphagia following OCF. METHODS: A systematic review of the literature was performed to explore the current evidence regarding cervical sagittal radiographic measurements and dysphagia following OCF. A search strategy was carried out using the PubMed, Embase, and Web of Science databases from their dates of inception until August 2022. Only original English-language studies were considered. Moreover, studies had to include the correlation between dysphagia and at least one radiographic measurement in the sagittal plane. RESULTS: The search and subsequent selection process yielded eight studies that were included in the final review, totaling 329 patients in whom dysphagia had been assessed and graded. The dysphagia score by Bazaz et al. (Spine 27, 22:2453-2458, 2002) was used most often. The pooled incidence of dysphagia, in the early postoperative period, was estimated at 26.4%. At long-term follow-up (range: 17-72 months), about one-third of patients experienced resolution of symptoms, which resulted in a long-term post-OCF dysphagia incidence of 16.5%. Across the studies included, six different radiographic parameters were used to derive several measures which were repeatedly and significantly associated with the occurrence of dysphagia. CONCLUSIONS: The high incidence of postoperative dysphagia following OCF warrants close monitoring of patients, especially in the short-term postoperative period. These patients may be assessed through standardized tools where the one by Bazaz et al. was the most commonly used. Moreover, there are several radiographic measurements that can be used to predict the occurrence of dysphagia. These findings may serve as a basis for strategies to prevent the occurrence of dysphagia after OCF.


Asunto(s)
Trastornos de Deglución , Fusión Vertebral , Humanos , Trastornos de Deglución/diagnóstico por imagen , Trastornos de Deglución/etiología , Calidad de Vida , Fusión Vertebral/efectos adversos , Fusión Vertebral/métodos , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/cirugía , Radiografía , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/etiología
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