Search Results (35)

Background/Objectives: Chiari 1 malformation (CM-1) is a structural abnormality characterised by cerebellar tonsillar descent of 5 mm or more through the foramen magnum. Despite improved imaging, surgical criteria remain inconsistent. This study evaluates the correlation between classical symptoms, imaging findings, and need for surgical intervention, as well as introducing a novel Chiari 1 scoring system aimed at refining the criteria for management options. Methods: A retrospective study was conducted on adult patients who were evaluated for CM-1 at a tertiary neurosurgical department with a specialised Chiari and Syringomyelia service over 12 months. Data included demographics, symptoms, imaging characteristics, and surgical intervention. Statistical analysis was performed using SPSS Version 30. Results: Sixty-nine (69) patients met the inclusion criteria (mean age, 36.26 years; male-to-female ratio, 1:3.1). Thirty patients (43.5%) had classic symptoms, of whom 26 had a tonsillar descent of >10 mm. A significant association was noted between surgery and classic symptoms (p < 0.01), tonsillar descent of >10 mm (p < 0.01), and syrinx presence (p = 0.02). Our novel scoring system had an AUC of 0.974 (95% CI 0.94–1.00; p < 0.001), with an optimum cut of the value of ≥3 points leading to a sensitivity of 100%, specificity of 89.5%, positive predictive value of 66.7% and negative predictive value of 100%. Conclusions: Surgical intervention remains an effective option for symptomatic patients. Our novel scoring system could provide a simplified, practical, and more accurate method for identifying patients who may benefit from surgical intervention. Full article

Background: Chiari-like malformation (CM) and syringomyelia (SM) are commonly observed disorders in the Pomeranians. Both disorders can lead to pain and diminish quality of life to varying extents. In veterinary medicine, affected dogs are often treated with gabapentin or pregabalin, which contrasts with human medicine, where the tricyclic antidepressants amitriptyline and nortriptyline are the first-choice treatments. Methods: affected dogs were treated with either amitriptyline or gabapentin. If a pre-syrinx was present, furosemide was also added. Owners were asked to score the clinical signs they observed (ORCS). Results: 90 Pomeranians were included, of which 62 received amitriptyline and 28 received gabapentin. Adding furosemide did not have an influence on the outcome. A logistic regression analysis with the number of ORCS, duration of ORCS, treatment (amitriptyline or gabapentin), and outcome (responder or non-responder) as the dependent variable revealed that the number of ORCS had an Odds of 1123 (p = 0.03). Duration of the ORCS (Odds 1.027; p = 0.45) and treatment group had a low influence (Odds 1.258; p = 0.65). Conclusions: In this study, amitriptyline demonstrated a moderate, though not statistically significant, more favorable effect on CM/SM pain compared to gabapentin. Adding furosemide to either of these two treatments did not influence the outcome. The outcome for dogs affected by CM/SM is not influenced by MRI grading; however, the number of ORCS and a longer duration negatively impact the outcome. A dose of 1 to 2 mg/kg body weight of amitriptyline administered twice daily proved to be more effective in several dogs. Full article

Background: Chiari malformation is a condition involving caudal descent of the hindbrain which herniates the cerebellar tonsils through the foramen magnum. The purpose of this study was to quantify auditory deficits in an affected individual and to explore the hypothesis that cerebellar malformation specifically disrupts binaural processing. Methods: We present audiometric, electrophysiologic, imaging and auditory perceptual findings for a 17-year-old female with Chiari 1 malformation and for a cohort of 35 hearing- and age-matched controls. Results: The patient presented with auditory deficit consistent with cerebellar disorder—that is, an impaired ability to judge the duration of auditory stimuli. In addition, she showed evidence of abnormal binaural processing affecting her capacity to localise sound sources to optimise speech perception in background noise. The provision of a remote microphone listening device was successful in improving her perceptual ability to normal levels. Conclusions: Despite normal sound detection ability, this child with Chiari 1 malformation suffered functional hearing deficits severe enough to impact everyday listening/communication and educational progress. These limitations were ameliorated through auditory intervention. Full article

(1) Background: Fetal surgery for meningomyelocele (MMC) should reduce the occurrence of Arnold–Chiari malformations, hydrocephalus, the associated need for craniocervical decompression, and the need for cerebrospinal fluid shunt insertion. Fetal surgery should improve ambulatory status. (2) Methods: We used retrospective analysis of the documentation and descriptive statistics to summarize the clinical data and measured MRI parameters. The neurosurgical results are presented as the frequency of findings in percentages and compared with the results of the Management of Myelomeningocele Study (MOMS). (3) Results: A total of eight patients who underwent prenatal correction of MMC between 2016 and 2020 participated. MRI detected Chiari II malformation in all patients during prenatal imaging and in 87.5% of the patients at the age of 12 months. Craniocervical decompression was used in 25% of the patients. Shunt-dependent hydrocephalus occurred in 50% of the cases. In 87.5% of the cases, the functional level exceeded the expected ambulatory status. (4) Conclusions: We present the clinical status of our patients. Analysis of the complete cohort confirmed that prenatal surgery is associated with a reduced occurrence of Chiari malformations and reduced associated occurrence of hydrocephalus. Specific lesion levels are not associated with the need for craniocervical decompression. The results of our study are valuable in prenatal counseling and important for treatment planning. Full article

(1) Background: Surgery for Chiari I malformation (CMI) is indicated when typical clinic-radiological features (syringomyelia, exertional headaches, sleep apnea syndrome, and tetraparesis) are present. Sometimes, patients have atypical complaints suggestive of otolaryngological (ENT) involvement, and it is sometimes difficult for the neurosurgeon to determine if these complaints are related to the CMI. Our aim was to describe postural control patterns in children with CMI using computerized dynamic posturography. To our knowledge, this is the first study addressing postural instability in pediatric CMI patients. (2) Methods: Twenty-eight children aged 6 to 17 years with both radiologically confirmed CMI and clinical ENT complaints were included. The children were separated into two groups, operated and non-operated patients, based on neurosurgical indication. Epidemiologic and posturographic results (CDP—Equitest^®) were compared between both groups, as well as pre- and postoperatively in Group 2. (3) Results: In Group 2 patients, significant improvement of global SOT was found after intervention. When the three sensorial aspects of postural control calculated by the system were independently assessed, the greatest improvement was in the vestibular ratio. We also observed an altered CoG pattern (“lateral deviation”) in the Group 2 patients, which significantly differed from those in Group 1. Lateral deviation was significantly reduced postoperatively in the Group 2 patients. A correspondence between preoperative MRI and the side of lateralization on posturography was found in four children, but this cannot be regarded as significant due to the low number of patients. (4) Conclusions: Postural control seems to improve after surgery for CMI in children, mostly due to the improvement in vestibular function. There is a correspondence between the side of lateral deviation and the side of greatest tonsillar descent on MRI and perioperatively. Further studies are needed to support these results and to confirm the utility of CDP in CMI patients. Full article

Chiari malformation type 1 (CM1) is a structural defect that involves the herniation of the cerebellar tonsils through the foramen magnum, causing mild to severe neurological symptoms. Little is known about the molecular and developmental mechanisms leading to its pathogenesis, prompting current efforts to elucidate genetic drivers. Inherited genetic disorders are reported in 2–3% of CM1 patients; however, CM1, including familial forms, is predominantly non-syndromic. Recent work has focused on identifying CM1-asscoiated variants through the study of both familial cases and de novo mutations using exome sequencing. This article aims to review the current understanding of the genetics of CM1. We discuss three broad classes of CM1 based on anatomy and link them with genetic lesions, including posterior fossa-linked, macrocephaly-linked, and connective tissue disorder-linked CM1. Although the genetics of CM1 are only beginning to be understood, we anticipate that additional studies with diverse patient populations, tissue types, and profiling technologies will reveal new insights in the coming years. Full article

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. Full article

Background: Despite several challenges in clinical management, there has been significant progress in understanding the aetiology, natural history and outcomes of Budd–Chiari syndrome (BCS) treatments. This study aims to evaluate the outcomes of transjugular intrahepatic portosystemic shunt (TIPS) using covered stent in management of BCS. Methods: We conducted a retrospective analysis of 70 BCS patients who underwent TIPS using covered stents between January 2010 and December 2022 at a single tertiary liver transplant centre. Patients’ clinical features, laboratory parameters, and imagine findings were collected before and after TIPS. The primary endpoint was overall survival. Results: TIPS was performed on 70 patients with BCS out of a total of 88 patients. The remaining patients (18) underwent liver transplantation. The mean age was 37.7 ± 11.2 years at time of diagnosis and the majority were female (64.35). The most common symptoms and signs at presentation were abdominal pain, jaundice, ascites, and variceal bleeding. Over a median followup of 76 months, the survival rates at 1, 3, and 5 years were 98.8%, 97.9%, and 97.7%, respectively. Patients who underwent TIPS alone had better survival that patients with BCS who required liver transplantation (LTx) (p = 0.003). Conclusions: In our study TIPS provided a highly effective treatment option for BCS patients. The long-term favourability of the outcome was not impacted by the need for repeated TIPS revision. Use of covered stents was instrumental in reducing shunt dysfunction rates. Prospective and larger studies are needed to further optimize therapeutic strategies in this challenging population. Full article

Background: Chiari malformation is a rare congenital condition in which the cerebellar tonsils herniate through the foramen magnum, causing symptoms related to compression of the surrounding structures. Rehabilitation plays a key role in the pre- and post-operative management of the syndrome, as it can improve strength, range of motion, motor coordination, pain management, and performance of activities of daily living. Methods: This article presents the case of a 43-year-old woman with Chiari malformation 1B who underwent resection of the filum terminale. She presented as an outpatient at the University Hospital “G. Martino” in Messina, complaining of difficulty walking, balance problems, lumbar pain, and heaviness in the lower limbs. Following a multidisciplinary assessment, she underwent an 11-month rehabilitation protocol based on cognitive therapeutic exercise. Results: The patient achieved significant improvements in pain, mental confusion, and quality of life after treatment and at the 12-month follow-up. Conclusions: The results of this study highlight the significant benefits of cognitive therapeutic exercises in Chiari malformation, with improvements in several key areas, including quality of life, pain management, and ability to perform activities of daily living. Full article

Background/Objectives: The management of Chiari malformations (CMs) remains a clinical challenge and a topic of great controversy. Results may vary between children and adults. The purpose of the current single-center study is to critically assess the one-year surgical outcomes of a cohort of 110 children with CM-1 or CM-1.5 who were treated using “posterior fossa reconstruction” (PFR), a surgical technique described in 1994 that has since been used in both adults and children. We also review the literature and discuss the possible causes of the drawbacks and pitfalls in children in whom PFR was ineffective in controlling the disease. Methods: The present cohort was selected from a prospective registry of adults and children with CMs collected since 2006. Patients included in this study were selected from a group of children with CMs who were operated on in our Pediatric Neurosurgical Unit between 1 January 2007 and 31 November 2023. Surgical outcome was defined based on clinical and neuroradiological results as very good, good, or bad. Results: The mean age of our child cohort was 9.9 ± 4.7 years, with 54 girls (49%) and 56 boys (51%). Sixty-six children had CM-1 (60%) while forty-four had CM-1.5 (40%). Following surgery, there was no neurological worsening or death among the children. Most children (70%) had an uneventful recovery and were discharged home on average one week after surgery. However, in 33 children (30%), we recorded at least one postoperative adverse event. Aseptic meningitis syndrome was the most frequent adverse event (n = 25, 22.7%). The final surgical outcome was evaluated one year after PFR by using both clinical and neuroradiological results. The one-year surgical outcome was excellent in 101 children (91.9%), good in 5 (4.5%), and bad in 4 (3.6%). Conclusions: PFR significantly enlarges the volume of the posterior fossa and recreates a CSF environment that generates buoyancy of the cerebellum, with a high percentage of excellent and good clinical results evaluated one year post-surgery. Full article

Background: Chiari malformation type 1 (CM-1) involves the cerebellar tonsils’ descent below the foramen magnum. In Chiari malformation type 1.5 (CM-1.5), both the cerebellar tonsils and the brainstem are herniated. Common symptoms include headaches and cervical pain, often associated with conditions like syringomyelia and hydrocephalus. Surgical treatment is not performed in asymptomatic patients, while the presence of syringomyelia represents an indication for surgery. Methods: This study retrospectively examined pediatric patients with CM-1 and CM-1.5 at Giannina Gaslini Hospital from 2006 to 2020, analyzing demographics, radiological findings, surgical interventions, and outcomes. Results: Out of 211 patients who underwent surgery, 83.9% were diagnosed with CM-1 and 16.1% with CM-1.5. Headaches were prevalent (69%) and cerebellar signs were noted in 29% of patients. Syringomyelia and hydrocephalus were present in 28.4% and 8% of cases, respectively. Intraoperative ultrasonography guided interventions, with 59.8% requiring bony and ligamentous decompression, and 27.1% undergoing duraplasty. Conclusions: The surgical treatment of CM-1/CM-1.5 involves posterior cranial fossa decompression. Choosing between bony decompression alone and its combination with duraplasty has always been controversial in the pediatric population. If we consider as surgical endpoint the restoration of cerebrospinal fluid (CSF) flux, intraoperative ultrasound may be a real-time helpful tool in orienting the surgical strategy, yet refinement with quantitative measures is needed. Full article

Background: In patients with Chiari 1.5 malformation (CM1.5), a more aggressive disease course and an increased association with craniovertebral junction (CVJ) anomalies has been suggested. The best management of this subgroup of patients is not clearly defined, also due to the lack of specific series elucidating this anomaly’s peculiar characteristics. Methods: We evaluated a series of 33 patients (25 females, 8 males; mean age at surgery: 13 years) fulfilling the criteria for Chiari 1.5 diagnosis who underwent posterior fossa decompression and duraplasty (PFDD) between 2006 and 2021. Results: Headache was present in all children, five presented central apnea, five had dysphagia, and three had rhinolalia. Syringomyelia was present in 19 (58%) children. Twenty patients (61%) showed various CVJ anomalies, but only one child presented instability requiring arthrodesis. The mean tonsil displacement below the foramen magnum was 19.9 mm (range: 12–30), without significant correlation with the severity of symptoms. Syringomyelia recurred or was unchanged in three patients, and one needed C1–C2 fixation. The headache disappeared in 28 children (84%). Arachnoid opening and tonsil coagulation or resection was necessary for 19 children (58%). Conclusions: In our pediatric CM series, the need for tonsil resection or coagulation was higher in CM1.5 children due to a more severe crowding. Full article

Chiari Malformation and Syringomyelia are neurosurgical entities that have been the subject of extensive research and clinical interest. Globally prevalent, these disorders vary demographically and have witnessed evolving temporal trends. Chiari Malformation impacts the normal cerebrospinal fluid flow, consequently affecting overall health. Key observations from canine studies offer pivotal insights into the pathogenesis of Syringomyelia and its extrapolation to human manifestations. Genetics plays a pivotal role; contemporary knowledge identifies specific genes, illuminating avenues for future exploration. Clinically, these disorders present distinct phenotypes. Diagnostically, while traditional methods have stood the test of time, innovative neurophysiological techniques are revolutionizing early detection and management. Neuroradiology, a cornerstone in diagnosis, follows defined criteria. Advanced imaging techniques are amplifying diagnostic precision. In therapeutic realms, surgery remains primary. For Chiari 1 Malformation, surgical outcomes vary based on the presence of Syringomyelia. Isolated Syringomyelia demands a unique surgical approach, the effectiveness of which is continually being optimized. Post-operative long-term prognosis and quality of life measures are crucial in assessing intervention success. In conclusion, this review amalgamates existing knowledge, paving the way for future research and enhanced clinical strategies in the management of Chiari Malformation and Syringomyelia. Full article

Neurosurgeons evaluate MRI scans to document whether surgical treatment has reduced syrinx size. Manual measurement of syrinx volume is time-consuming and potentially introduces operator error and bias. Developing convenient semiautomated volumetric analysis methods may encourage their clinical implementation and improve syringomyelia monitoring. We analyzed 30 SPGR axial MRI scans from 15 pre- and postoperative Chiari I and syringomyelia patients using two semiautomated (SCAT and 3DQI) methods and a manual Cavalieri (CAV) method. Patients’ spinal cord and syrinx volumes pre- and postoperatively were compared by paired t-test. A decrease in syrinx volume (mm³) after surgery was detected across all methods. Mean syrinx volume (± SD) measured by CAV (n = 30) was, preoperatively, 4515 mm³ ± 3720, postoperatively 1109 ± 1469; (p = 0.0004). SCAT was, pre, 4584 ± 3826, post, 1064 ± 1465; (p = 0.0007) and 3DQI was, pre, 4027 ± 3805, post, 819 ± 1242; (p = 0.001). 3DQI and CAV detected similar mean spinal cord volumes before (p = 0.53) and after surgery (p = 0.23), but SCAT volumes differed significantly (p = 0.005, p = 0.0001). The SCAT and 3DQI semiautomated methods recorded surgically related syrinx volume changes efficiently and with enough accuracy for clinical decision-making and research studies. Full article

Chiari malformation type 1 (CM1) includes various congenital anomalies that share ectopia of the cerebellar tonsils lower than the foramen magnum, in some cases associated with syringomyelia or hydrocephalus. CM1 can cause dysfunction of the brainstem, spinal cord, and cranial nerves. This functional alteration of the nervous system can be detected by various modalities of neurophysiological tests, such as brainstem auditory evoked potentials, somatosensory evoked potentials, motor evoked potentials, electromyography and nerve conduction studies of the cranial nerves and spinal roots, as well as brainstem reflexes. The main goal of this study is to review the findings of multimodal neurophysiological examinations in published studies of patients with CM1 and their indication in the diagnosis, treatment, and follow-up of these patients, as well as their utility in intraoperative monitoring. Full article