Cervical dorsal rhizotomy for upper limbs spasticity. Case report.

Spasticity is a prevalent symptom of upper motor neuron syndrome, becoming debilitating when hindering voluntary movement and motor function and causing contractures and pain. Functional neurosurgery plays a crucial role in treating severe spasticity. Despite extensive literature on SDR for lower limb spasticity, there is a scarcity of papers regarding the procedure in the cervical region to alleviate upper limb spasticity. This case report details a cervical dorsal rhizotomy (CDR) performed for upper limb spasticity, resulting in significant improvement in spasticity with sustained outcomes and low complication rates. Neuroablative procedures like CDR become an option to treat spasticity.

Type II Odontoid Fractures: Is the Anterior Screw a Good Solution for all Patients? A Case Series of 60 Consecutive Patients.

OBJECTIVE: Type II odontoid fracture is the most common fracture type, and its treatment remains challenging. The objective of this study was to evaluate the results of anterior screw fixation for type II odontoid fractures in patients aged over and below 60 years. METHODS: A retrospective analysis of consecutive patients diagnosed with type II odontoid fractures who were surgically treated using the anterior approach by a single surgeon was conducted. Demographic characteristics, including age, sex, type of fracture, time from trauma to surgery, length of stay (LoS), fusion rate, complications, and reoperation, were evaluated. Surgical outcomes were compared between patients over and below 60 years of age. RESULTS: Sixty consecutive patients underwent odontoid anterior fixation during the analysis period. The mean age of patients was 49.58 ± 23.22 years. Twenty-three (38.3%) patients were aged over 60 years, and the minimum follow-up period was two years. Of the patients, 93.3% developed bone fusion, which was observed in 86.9% of patients over 60 years. Complications related to hardware failure occurred in six (10%) patients. Transient dysphagia was observed in 10% of the cases. Three (5%) patients required reoperation. Patients over 60 years had a significantly increased risk of dysphagia compared with those below 60 years (P = 0.0248). There was no significant difference between the groups regarding nonfusion rate, reoperation rate, or LoS. CONCLUSIONS: Anterior fixation of the odontoid showed high fusion rates with a low rate of complications. It is a technique to be considered for treating type II odontoid fractures in selected cases.

Chamberlain's Line Violation in Basilar Invagination Patients Compared with Normal Subjects: A Systematic Literature Review and Meta-Analysis.

OBJECTIVE: To compare the measured odontoid tip violation above Chamberlain's line described in the literature to diagnose basilar invagination (BI) and to establish the normal placement of the dens tip defining individuals without BI (normal subjects). METHODS: A systematic literature review was performed to identify clinical or radiological studies that expressed the amount of odontoid violation above Chamberlain's line in patients with a BI diagnosis. In addition, a meta-analysis was performed to evaluate normal subjects' values of Chamberlain's line violation (CLV). RESULTS: There were 23 studies included (13 radiological and 10 clinical). Most studies used computed tomography and/or magnetic resonance imaging. Eight different cutoff values were used to measure dislocated odontoid apexes above Chamberlain's line regardless of the radiological modality. The mean measured amount of CLV was 3.95 mm (median 5 mm; range, 0-9 mm). The meta-analysis included 8 studies (1233 patients) with a normal sample population with a mean normal CLV of -0.63 mm (below the line) (95% confidence interval [-0.8, 1.18 mm], random effects model). CONCLUSIONS: Different values were found in the assessed studies used for CLV in BI diagnosis. This variability is especially important for type B BI, as type A BI has other craniocervical diagnostic parameters. Considering the results obtained in this meta-analysis, BI should be diagnosed in the case of any dens violation >1.18 mm.

Association between Brachycephaly, Chiari Malformation, and Basilar Invagination.

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.

Thirty-day unplanned readmission after spine surgery: analysis of 650 cases / Readmissão não planejada em 30 dias após cirurgias da coluna: análise de 650 casos / Reingreso no planificado a los 30 días después de cirugías de la columna: análisis de 650 casos

ABSTRACT: Objective: Postoperative readmission rates can be used to assess hospital care quality. The rates of unplanned readmission within 30 days after spine surgery are variable in the literature, and no studies have evaluated such rates in a single Latin American center. This study aimed to assess the rate of unplanned hospital readmission within 30 days after a spine surgery at a single Brazilian institution and to identify possible risk factors. Methods: Patients who underwent spine surgery at a single private hospital between January 2018 and December 2020 were retrospectively analyzed, and those with unplanned readmissions within 30 days of discharge were identified. Risk factors were determined, and the reoperation rate was assessed. Results: 650 patients were included in the analysis, and 74 (11.28%) were readmitted within 30 days after surgery. Higher readmission rates were observed after vertebroplasty and surgeries involving spinal or bone tumors. The risk factors found in the series were older age, longer hospital stays, higher ASA scores, instrumented surgeries, diabetes mellitus, and surgeries involving primary or secondary spinal tumors. The most common causes of unplanned readmission were infection and pain. Of the readmissions, 28.37% required a return to the operating room. Conclusions: This study suggests infection and pain management were the most common causes of unplanned readmission after spine surgery. Strategies to improve perioperative and postoperative care are required to reduce unplanned readmissions. Level of Evidence III; Retrospective Comparative Study.

RESUMO: Objetivo: As taxas de readmissão pós-operatórias podem ser usadas para avaliação da qualidade assistencial hospitalar. As taxas de readmissão não planejada em 30 dias após cirurgias de coluna são variáveis na literatura, e não há estudos avaliando tais taxas em centros únicos da América Latina. Este estudo teve como objetivo avaliar as taxas de readmissões não planejadas em 30 dias após cirurgias de coluna em uma única instituição brasileira e identificar possíveis fatores de risco. Métodos: Pacientes submetidos a cirurgias de coluna em um único hospital privado entre janeiro de 2018 e dezembro de 2020 foram avaliados retrospectivamente, e aqueles readmitidos dentro de 30 dias foram identificados. Fatores de risco foram determinados e a taxa de reoperação foi avaliada. Resultados: 650 pacientes foram incluídos na análise, e 74 (11,28%) foram readmitidos dentro de 30 dias após a cirurgia. Maiores taxas de readmissão foram observadas após vertebroplastia e cirurgias envolvendo tumores espinhais ou tumores ósseos. Os fatores de risco encontrados em nossa série foram idade mais elevada, maior tempo de hospitalização, maior escore ASA, cirurgias com instrumentação, diabetes mellitus e cirurgias envolvendo tumores vertebrais primários ou secundários. As causas mais comuns de readmissão não planejada foram infecção e dor. Dentre os pacientes reinternados, 28,37% necessitaram de reoperação. Conclusões: Este estudo sugere que infecção e manejo de dor foram as causas mais comuns de readmissão não planejada após cirurgias de coluna. Estratégias para melhorar os cuidados pre e pós-operatórios são necessárias para reduzir readmissões não planejadas. Nível de Evidência III; Estudo Retrospectivo Comparativo.

RESUMEN: Objetivo: Las tasas de reingreso después de la cirugía de columna son variables y ningún estudio ha evaluado tales tasas en un solo centro latinoamericano. Este estudio tuvo como objetivo evaluar la tasa de reingreso hospitalario no planificado dentro de los 30 días posteriores a la cirugía de columna en una sola institución brasileña e identificar posibles factores de riesgo. Métodos: Se analizaron retrospectivamente los pacientes que se sometieron a cirugía de columna en un solo hospital entre enero de 2018 y diciembre de 2020, y se identificaron aquellos con reingresos no planificados dentro de los 30 días posteriores al alta. Se determinaron los factores de riesgo y se evaluó la tasa de reoperación. Resultados: En el análisis se incluyeron un total de 650 pacientes, y 74 (11,28%) reingresaron dentro de los 30 días posteriores a la cirugía. Se observaron tasas de reingreso más altas después de la vertebroplastia y las cirugías que involucraron tumores espinales u óseos. Los factores de riesgo encontrados en nuestra serie fueron la edad avanzada, la estancia hospitalaria más prolongada, las puntuaciones ASA más altas, las cirugías instrumentadas, la diabetes mellitus y las cirugías de tumores espinales. Las causas más frecuentes de reingreso fueron la infección y el dolor. De los reingresos, el 28,37% requirieron volver al quirófano. Conclusiones: Este estudio sugiere que la infección y el manejo del dolor fueron las causas más comunes de reingreso. Se requieren estrategias para mejorar la atención perioperatoria y posoperatoria y así reducir las readmisiones no planificadas. Nivel de Evidencia III; Estudio comparativo retrospectivo.

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel-Lindau disease: A case report and literature review.

Background: Hemangioblastomas (HBs) typically present with benign behavior and are most commonly found in the posterior fossa. Multiple central nervous system (CNS) HBs are usually associated with von Hippel-Lindau disease, and leptomeningeal dissemination of sporadic HBs is extremely rare. A review of the literature identified 30 cases of leptomeningeal dissemination of sporadic HBs previously published in the literature. Case Description: We report the case of a patient who was diagnosed with multiple CNS HBs with aggressive progression 6 years after resection of a posterior fossa HB. He underwent multiple surgeries and died 4 years after the diagnosis of the first spinal dissemination. Conclusion: Dissemination of sporadic HBs is rare and aggressive disease evolution is usually observed. Further studies are necessary to determine the optimal therapeutic options.

The impact of traumatic herniated discs in cervical facets dislocations treatments: systematic review and meta-analysis.

BACKGROUND: Traumatic facet dislocations in the subaxial cervical spine, also known as locked facets, are commonly associated with neurological deficits. The fear of the presence of an associated traumatic disc herniation and consequent neurological worsening usually causes a delay in the spinal realignment. This study's aim is an analysis of safety and efficacy when treating acute cervical traumatic facet dislocations using cranial-cervical traction or posterior open reduction and fixation in the presence of disc herniations. METHODS: Inclusion criteria addressed the following patient groups: (1) MRI diagnosis of traumatic cervical facet dislocations with disc herniation, (2) intervention: either cranial-cervical traction or posterior open reduction and fixation, (4) neurological outcomes after treatment, (5) adult 18 plus years of age, (6) sample sizes greater than 20 patients, (7) English language publication. The following databases and search tools were analyzed: MEDLINE (PubMed), Cochrane Central Register of Controlled Trials (CENTRAL), Google Scholar, and the clinical trial registries (ClinicalTrials.gov), October 2021. RESULTS: Six studies were found, 2 with posterior open reduction and fixation and 4 with cranial-cervical traction, totalizing 197 patients. Neurological worsening was reported only in 1 case (0.5%). CONCLUSIONS: Traumatic disc herniation in cervical facet dislocations is not an absolute contraindication of cranial-cervical traction or posterior open reduction. Early realignment of the spine could bring more neurological benefits than waiting for an MRI or surgical discectomy. However, caution is needed in this review's data interpretation until prospective and well-designed studies are performed.

The surgical treatment of subaxial acute cervical spine facet dislocations in adults: a systematic review and meta-analysis.

Adult cervical spine traumatic facet joint dislocations occur when excessive traumatic forces displace the vertebrae's facets, leading to loss of joint congruence. Reduction requires either cranial traction or open surgical procedures. This study aims to appraise the effects of different surgical techniques in the treatment of subaxial cervical spine acute traumatic facet blocks in adults. This study was based on a systematic literature review and meta-analysis, registered in Prospero (CRD42021279249). The PICO question was composed of adults with acute cervical spine traumatic facet dislocations submitted to anterior or posterior surgical approaches, associated or not with cranial traction for reduction. Each surgical technique was compared to the other. The primary clinical outcomes included neurological improvement or worsening and surgical success/failure rates. The anterior approach without cranial traction was efficient in reducing facet displacements. Skull traction was an efficient and immediate method to achieve spine dislocation reductions. Differences were not present among techniques regarding neurological improvement. There were no surgical failures in patients operated on via the posterior approach. The need to decompress and stabilize the cervical spine can be achieved by anterior or posterior surgical approaches, and there is no clear answer as to which initial approach is superior to the other.

Development and validation of an instrument for measuring parkinsonian motor impairment: TRAPS-D.

BACKGROUND: Parkinson's disease is incurable, idiopathic, degenerative, and progressive, and affects about 1% of the elderly population. Multidisciplinary clinical treatment is the best and most adopted therapeutic option, while surgical treatment is used in less than 15% of those affected. In practice, there is a lack of reliable and validated scales for measuring motor impairment, and monitoring and screening for surgical indications. OBJECTIVE: To develop and validate an instrument for measuring parkinsonian motor impairment in candidates for neurosurgical treatment. METHOD: The development and validation methods followed published guidelines. The first part was the choice of domains that would make up the construct: cardinal signs of disease (tremor, rigidity (stiffness), posture/balance/gait, hypokinesia/akinesia, and speech), along with pain and dyskinesia. A multi-professional working group prepared an initial pilot instrument. Ten renowned specialists evaluated, judged, and suggested modifications to the instrument. The second phase was the evaluation of the content of each domain and the respective ability to classify commitment intensity. The third phase was the correction of the main flaws detected and new submission to the board. The instrument was applied to 41 candidates for neurosurgical treatment in two situations: with and without medication RESULTS: The final form received 100% agreement from the judges. Its average time for application was 8 min. It was very responsive (p = 0.001, Wilcoxon) in different situations (On-Off). CONCLUSION: TRASP-D is a valid instrument for measuring motor impairment in patients with Parkinson's disease who are candidates for neurosurgical treatment. It allows measurement in multiple domains with reliability and sensitivity.

Effect of interbody fusion compared with posterolateral fusion on lumbar degenerative spondylolisthesis: a systematic review and meta-analysis.

BACKGROUND CONTEXT: Lumbar degenerative spondylolisthesis is a relatively common pathology, and surgical treatment is an option in selected cases. The common use of anterior column support by interbody fusion (IBF) has not been adequately studied. PURPOSE: The primary objective of this systematic review and meta-analysis was to compare the functional and surgical outcomes after posterolateral fusion (PLF) and IBF for the treatment of degenerative spondylolisthesis. STUDY DESIGN: A systematic review and meta-analysis was conducted to identify studies analyzing the effects of IBF compared to those of instrumented PLF on degenerative spondylolisthesis. PATIENT SAMPLE: A total of 1,063 patients were included in the analysis. Of them, 470 patients were treated with PLF and 593 with IBF. OUTCOME MEASURES: The outcomes analyzed were the visual analog scale and numerical rating scale scores for back pain, Oswestry Disability Index (ODI), 36-Item Short Form Health Survey (SF-36) score, 12-Item Short Form Health Survey (physical and mental components) score, blood loss amount, surgical time, hospital stay duration, fusion rate, lumbar lordosis, sacral slope, and postoperative complications. METHODS: A search was conducted using the MEDLINE, Cochrane, and Google Scholar databases for studies published between January 1985 and February 2021. Both retrospective and prospective studies that compared between IBF and PLF were included. RESULTS: A total of 2,819 articles were screened, and 38 full-text articles were selected for a detailed investigation, of which 12 articles were found to match all the inclusion criteria and were included in the meta-analysis. There was an improvement in the sacral slope (mean difference [MD] = 3 [95% confidence interval {CI} = 0.83-5.17]) and fusion rate (odds ratio [OR] = 0.47 [95% CI = 0.26-0.86]) in the IBF group. The incidence of neural injury was higher in the IBF group (OR = 0.28 [95% CI = 0.13-0.60]) than in the PLF group. There were no differences in the back pain scores, ODI, SF-36 score, blood loss amount, surgical time, hospital stay duration, lumbar lordosis, infection, and durotomy between the groups. CONCLUSIONS: IBF for the treatment of lumbar degenerative spondylolisthesis showed better results in terms of the fusion rate and sacral slope, but which did not translate into better clinical outcomes. Further randomized and prospective studies are necessary to elucidate the optimal therapeutic options.

Effectiveness of telemedicine in response to the COVID-19 pandemic

SUMMARY OBJECTIVE: The aim of this study was to evaluate the utility of the telemedicine care model implemented to treat and guide patients with COVID-19 related symptoms and indicators during the pandemic. METHODS: This is a retrospective study with data collected from the electronic records of standardized forms for assistance. As a way of evaluating the work performed, the number of consultations, types of referrals, efficiency of care, and patient satisfaction were observed. RESULTS: Between April 2 and October 15, 2020, 92 professionals attended 3,660 patients by telemedicine; out of them, 523 (14.3%) were referred to a COVID-19 attending room, 128 (3.5%) to other specialties, 123 (3.4%) to a general emergency department, and 2,886 (78.9%) were monitored via home care. Of the total number of patients, 81 (2.2%) were hospitalized, and 13 (0.35%) died. CONCLUSION: Telemedicine offered useful tools for the care, treatment, and monitoring of patients with COVID-19 during the pandemic. The service was considered by most respondents as satisfactory, resolutive, or safe.

Comparison of endoscopic resection techniques for duodenal neuroendocrine tumors: systematic review.

Background and study aims Regardless of size, duodenal neuroendocrine tumors (dNETs) should be considered potentially malignant. A complete resection without complications is essential to increase safety procedures. The aim of this review was to describe effectiveness and possible complications of endoscopic techniques resection for resectioning dNETs in patients with tumors ≤ 20 mm in diameter. Methods An electronic bibliographic search was conducted using MEDLINE (via PubMed), Embase, Cochrane Central, and Google Scholar virtual databases. The types of intervention were endoscopic mucosal resection alone (EMR) or with cap (EMR-C), with a ligation device (EMR-L), with previous elevation of the tumor (EMR-I) or with endoscopic submucosal dissection (ESD); argon plasm coagulation (APC), and polypectomy. The outcome measures adopted were presence of free margin associated with tumor resection, tumor recurrence, complications (bleeding and perforation), and length of the procedure. Results Ten publications were included with the result of 224 dNET resections. EMR alone and polypectomy resulted in the most significantly compromised margin. The most frequent complication was bleeding (n = 21), followed by perforation (n = 8). Recurrence occurred in 13 cases, the majority of those under EMR or EMR-I. Conclusions EMR-C or EMR-I should be preferred for resectioning of dNETs. Polypectomy should not be indicated for resection of dNETs due to the high occurrence of incomplete resections. EMR alone must be avoided due a higher frequency of compromised margin and recurrent surgery. ESD was associated with no recurrence, however, but an increased occurrence of bleeding and perforation.

Review of best classification systems for diagnosing and treating thoracolumbar spine trauma.

BACKGROUND: Improved thoracolumbar spine trauma classification (TLSTC) systems can better help diagnose and treat thoracolumbar spine trauma (TLT). Here, we identified the types of injury (rationale and description), instability criteria, and treatment guidelines of TLSTC. METHODS: We used the PubMed/MEDLINE database to assess TLSTC according to the following variables: injury morphology, injury mechanism, spinal instability criteria, neurological status, and treatment guidelines. RESULTS: Twenty-one studies, 18 case series and three reviews were included in the study. Treatment guidelines were proposed in 16 studies. The following three major parameters were identified in TLSTC studies: injury morphology (19/21 studies), posterior ligamentous complex (PLC) disruption alone as the main spinal instability criterion (15 studies), and neurological damage (12 studies). Most classification systems neglected the severity of vertebral body comminution. CONCLUSION: We identified here the 3 main parameters for the evaluation of diagnosis and treatment of TLT: injury morphology, PLC disruption, and neurological damage. Based on our review, we may conclude that further clinical validation studies of TLSTC are warranted.

Effect of medication withdrawal on pain in Parkinson's disease patients - an observational study based on a sample of patients without antiparkinsonian medications.

OBJECTIVES: To assess the effect of withdrawal of the antiparkinsonian drug regimen administration on patients with PD and its relation to pain. METHODS: The sample included 22 men and 12 women who were candidates for neurosurgery to control motor signs and symptoms treated with L-dopa as a drug, alone or in combination with others (Cholinergic Antagonists; Dopamine Agents). All of them were examined at two different moments, with and without medication, and analyzed for painful symptoms. The Hoehn and Yahr scale was used for functional staging of the disease. Pain intensity was assessed by using the numerical verbal scale. RESULTS: The mean pain intensity among those on medication {2.17±0.39 (SE)} was significantly lower than in the abstinence group {4.2±0.59 (SE), p=0.006, Wilcoxon}, which corresponded to the increase in the total functional staging score from 93 to 111, respectively. CONCLUSION: The interruption of the administration of specific medications in patients with Parkinson's disease caused, or increased the intensity of, painful discomfort correlated with the intensity of functional impairment. This effect was also observed in women, but it was statistically relevant only for men. The results suggest that pain may be a "red flag" that points to the need for a therapeutic drug review when its presence or worsening is detected.

Effect of medication withdrawal on pain in Parkinson's disease patients - an observational study based on a sample of patients without antiparkinsonian medications

SUMMARY OBJECTIVES: To assess the effect of withdrawal of the antiparkinsonian drug regimen administration on patients with PD and its relation to pain. METHODS: The sample included 22 men and 12 women who were candidates for neurosurgery to control motor signs and symptoms treated with L-dopa as a drug, alone or in combination with others (Cholinergic Antagonists; Dopamine Agents). All of them were examined at two different moments, with and without medication, and analyzed for painful symptoms. The Hoehn and Yahr scale was used for functional staging of the disease. Pain intensity was assessed by using the numerical verbal scale. RESULTS: The mean pain intensity among those on medication {2.17±0.39 (SE)} was significantly lower than in the abstinence group {4.2±0.59 (SE), p=0.006, Wilcoxon}, which corresponded to the increase in the total functional staging score from 93 to 111, respectively. CONCLUSION: The interruption of the administration of specific medications in patients with Parkinson's disease caused, or increased the intensity of, painful discomfort correlated with the intensity of functional impairment. This effect was also observed in women, but it was statistically relevant only for men. The results suggest that pain may be a "red flag" that points to the need for a therapeutic drug review when its presence or worsening is detected.

Effectiveness of telemedicine in response to the COVID-19 pandemic.

OBJECTIVE: The aim of this study was to evaluate the utility of the telemedicine care model implemented to treat and guide patients with COVID-19 related symptoms and indicators during the pandemic. METHODS: This is a retrospective study with data collected from the electronic records of standardized forms for assistance. As a way of evaluating the work performed, the number of consultations, types of referrals, efficiency of care, and patient satisfaction were observed. RESULTS: Between April 2 and October 15, 2020, 92 professionals attended 3,660 patients by telemedicine; out of them, 523 (14.3%) were referred to a COVID-19 attending room, 128 (3.5%) to other specialties, 123 (3.4%) to a general emergency department, and 2,886 (78.9%) were monitored via home care. Of the total number of patients, 81 (2.2%) were hospitalized, and 13 (0.35%) died. CONCLUSION: Telemedicine offered useful tools for the care, treatment, and monitoring of patients with COVID-19 during the pandemic. The service was considered by most respondents as satisfactory, resolutive, or safe.

von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression.

von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the VHL gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal cord and, less frequently, pancreatic cystic neoplasm, pancreatic neuroendocrine tumor, clear cell carcinoma of the kidney, endolymphatic sac tumor, pheochromocytoma, and paraganglioma. The authors report a case of a patient with VHLS with a rare pathogenic variant in the VHL gene and with an optic nerve hemangioblastoma, a rare phenotypic expression. Case report: A 49-year-old woman was diagnosed with cystic neoplasm of the pancreas, renal cell carcinoma of the right kidney, and hemangioblastoma of the left optic nerve. The patient's family history revealed siblings with VHLS manifestations. The index case was her mother who died at age 63 of clear cell renal carcinoma. The information was obtained by consulting the patient's medical register and by interviews with the patient and her relatives. The presence of left optic nerve hemangioblastoma was suggested by CT scan of the skull and orbit. The sequencing of the VHL gene was performed in the peripheral blood by the polymerase chain reaction (PCR) technique, and the duplication and deletion research was performed using the multiplex ligation-dependent probe amplification (MPLA) technique. The presence of a rare pathogenic variant c.263G> A (p.Trp88Ter) was observed in heterozygosity in the VHL gene that determined a premature stop codon. CT scan of the skull and orbits suggested the presence of HB in the optic nerve of the left eye. The results of the CT scan of the skull and orbits show thickening with tortuosity of the left optic nerve, with a small area of nodular enhancement. The right optic nerve had a conserved aspect. Conclusion: This is the fourth case described of this rare pathogenic variant of the VHL gene, according to the Human Gene Mutation Database and VHLdb database records and with an optic nerve hemangioblastoma of the optic nerve, a very rare phenotypic expression of the VHLS.

Posterior Fossa Dimensions of Chiari Malformation Patients Compared with Normal Subjects: Systematic Review and Meta-Analysis.

BACKGROUND: Chiari malformation (CM) is defined as a herniation of cerebellar tonsils below the foramen magnum and is considered to be due to underdevelopment of posterior fossa (PF) bone components. There is overcrowding of neural structures, and normal cerebrospinal fluid circulation is frequently blocked. Although several publications exist of measurements of dimensions and volumes from bone components of PF in CM, there is no systematic review evaluating quantitatively these dimensions. The aim of this study was to evaluate PF dimensions and volumes in a meta-analysis. METHODS: An electronic search using PubMed and Google Scholar was done. Study eligibility criteria were defined by the PICO strategy, which selected patients and interventions. Studies comparing PF dimensions between patients with CM and normal subjects were selected. A meta-analysis of pooled data was done using statistical software. RESULTS: Data for pooled analysis were obtained from 12 studies. Data synthesis was based on small published sample sizes in the majority of studies. Key findings included smaller measurements of clivus, supraoccipital bone, and PF area dimensions in patients with CM compared with normal subjects. Brainstem and cerebellar length was not different between groups. CONCLUSIONS: This review provides evidence of smaller measurements of clivus, supraoccipital bone, and PF area dimensions in patients with CM compared with normal subjects. An implication of the key findings is that surgical treatment of CMs should consider the smaller dimensions of PF in planning.