Chiari Malformation Research Articles

Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion

Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients were selected for OCF. Fifty-three consecutive subjects diagnosed with EDS, who presented with severe head and neck pain, lower cranial nerve deficits, cervical medullary syndrome, myelopathy, and radiologic findings of CCI, underwent open reduction, stabilization, and OCF. Thirty-two of these patients underwent suboccipital decompression for obstruction of cerebral spinal fluid flow. Questionnaire data and clinical findings were abstracted by a research nurse. Follow-up questionnaires were administered at 5–28 months (mean 15.1). The study group demonstrated significant improvement in headache and neck pain (p < 0.001), decreased use of pain medication (p < 0.0001), and improved Karnofsky Performance Status score (p < 0.001). Statistically significant improvement was also demonstrated for nausea, syncope (p < 0.001), speech difficulties, concentration, vertigo, dizziness, numbness, arm weakness, and fatigue (p = 0.001). The mental fatigue score and orthostatic grading score were improved (p < 0.01). There was no difference in pain improvement between patients with CMI/LLCT and those without. This outcomes analysis of patients with disabling CCI in the setting of EDS demonstrated significant benefits of OCF. The results support the reasonableness of the selection criteria for OCF. We advocate for a multi-center, prospective clinical trial of OCF in this population.

Clinical analysis of atlanto-occipital decompression in the management of chiari malformation with multi-segmental syringomyelia.

Chiari malformation type I with syringomyelia (CM-I-S) is a very common disease in neurosurgery. There are also various surgical methods. But it is controversial. There are few reports about children, especially the treatment of multi-segmental beaded syringomyelia. The purpose of this study was to explore the clinical effects of atlanto-occipital decompression (AOD) in the management of Chiari malformation type I (CM-I) with multi-segmental beaded syringomyelia (MSBS) in pediatric patients. This retrospective study were pediatric patients with CM-I combined with MSBS who were treated in our hospital from January 2015 to December 2023. The patients who received the AOD treatment were screened according to inclusion and exclusion criteria. Outcomes were assessed by comparison of pre- and postoperative clinical, Chicago Chiari Outcome Scale (CCOS), the diameter and volume of the syringomyelia, morphological parameters of posterior cranial fossa (cervical spinal cord angle of medulla oblongata, CSC-MO) and complications in the enrolled children. This study ultimately included 21 eligible pediatric patients with CM-I and MSBS. All the patients successfully completed the operation, which consists of atlanto-occipital decompression, partial resection of the posterior arch of the atlas, electrocoagulation of the cerebellar tonsil, pseudomembrane resection of the central canal orifice (latch) of the spinal cord, and artificial dura mater expansion repair. No death, no relapses, no serious neurological dysfunction and other complications. At the last follow-up, the clinical symptoms of all patients basically disappeared. The results of magnetic resonance imaging (MRI) showed that the average preoperative cerebellar tonsillar hernia was 12.4 ± 4.6 mm, and the postoperative were all above the foramen magnum. The average preoperative syringomyelia volume was 11.7 ± 3.7 cm2, and the syringomyelia disappeared or significantly shrunk after operation, with the volume unable to be accurately measured. The median preoperative CSC-MO was 132.5°, and the median postoperative CSC-MO was 150°, with a significant difference. The median preoperative pain and non-pain score of CCOS was 4 and 3 respectively. The symptoms disappeared after operation, and the score was 4. Only 5 children had cerebrospinal fluid leakage. The AOD is safe and effective in CM-I with MSBS in pediatric patients. Pseudomembrane resection of the central canal orifice (latch) of the spinal cord is crucial for the treatment of syringomyelia.

Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.

The diagnosis of Chiari I malformation is straightforward in patients with typical signs and symptoms of Chiari I malformation and magnetic resonance imaging (MRI) confirming ≥5 mm of cerebellar tonsillar ectopia, with or without a syrinx. However, in many cases, Chiari I malformation is discovered incidentally on MRI to evaluate global headache, cervical radiculopathy, or other conditions. In those cases, the clinician must consider if cerebellar tonsillar ectopia is related to the presenting symptoms. Surgical decompression of the cerebellar tonsils and foramen magnum in patients with symptomatic Chiari I malformation effectively relieves suboccipital headache, reduces syrinx distension, and arrests syringomyelia progression. Neurosurgeons must avoid operative treatments decompressing incidental tonsillar ectopia, not causing symptoms. Such procedures unnecessarily place patients at risk of operative complications and tissue injuries related to surgical exploration. This chapter reviews the typical signs and symptoms of Chiari I malformation and its variant, Chiari 0 malformation, which has <5 mm of cerebellar tonsillar ectopia and is often associated with syringomyelia. Chiari I and Chiari 0 malformations are associated with incomplete occipital bone development, reduced volume and height of the posterior fossa, tonsillar ectopia, and compression of the neural elements and cerebrospinal fluid (CSF) pathways at the foramen magnum. Linear, angular, cross-sectional area, and volume measurements of the posterior fossa, craniocervical junction, and upper cervical spine identify morphometric abnormalities in Chiari I and Chiari 0 malformation patients. Chiari 0 patients respond like Chiari I patients to foramen magnum decompression and should not be excluded from surgical treatment because their tonsillar ectopia is <5 mm. The authors recommend the adoption of diagnostic criteria for Chiari 0 malformation without syringomyelia. This chapter provides updated information and guidance to the physicians managing Chiari I and Chiari 0 malformation patients and neuroscientists interested in Chiari malformations.

Disfagia orofaríngea na malformação de Chiari tipo I: série de casos clínicos

ABSTRACT Type I Chiari malformation (MCI) is a generally congenital condition of herniation of the cerebellar tonsils below the foramen magnum, which can lead to compression of structures close to the posterior cranial fossa or obstruction of the flow of ventral cerebrospinal fluid. Type I, although rare, is the most commonly found in the population. This study aimed to report the findings of video endoscopy of swallowing, speech assessment, level of oral intake, nutritional risk and therapeutic planning in three cases of Type I Chiari malformation. Data were collected regarding the assessment of mobility and strength of tongue, Maximum Phonation Time (MPT), cough efficiency and the Eichner Index. The level of oral intake and pharyngeal signs of dysphagia were analyzed in four food consistencies, according to the International Dysphagia Diet Standardization Initiative (IDDSI) classification, using swallowing video endoscopy. For analysis and classification of pharyngeal residues, the Yale Pharyngeal Residue Severity Rating Scale (YPRSRS) was used, while the Malnutrition Screening Tool (MST) was used to track nutritional risk. Reduced tongue mobility and strength and reduced MPT were observed, while pharyngeal signs varied between cases, with the presence of incomplete glottic closure, posterior oral escape, multiple swallows, pharyngeal residues and laryngeal penetration.

Опросник клинической симптоматики мальформации Киари: перспективы применения у взрослых пациентов в Республике Татарстан

The clinical symptoms of Chiari malformation type 1 (CM1) are formed as a result of a combination of traction, compression, and occlusive processes in patients with a small volume of the posterior cranial fossa and dislocation of the cerebellar tonsils and are characterized by a wide variety combined with low specificity. This complicates the clinical diagnosis of this pathology, assessment of its severity and dynamics. Currently, the only clinical symptoms questionnaire designed specifically for patients with СM1 is the Chiari Symptom Profile (CSP), created by D.M. Muller and J.J. Oro and tested on an English-speaking cohort of adult patients. The Republic of Tatarstan is one of the regions of the Russian Federation with an increased incidence of СM1 and СM1-associated syringomyelia, which determines the relevance of studying the clinical symptoms of СM1 and searching for methods of early clinical diagnosis of this pathology. The purpose of this work was to determine the prospects of using the CSP questionnaire in adult CM-patients with Chiari malformation in the Republic of Tatarstan. As a result of the standard procedure of translation, adaptation and approbation, versions of the questionnaire were created in the Russian and Tatar languages. Validation showed their reliability and discriminant validity.

Anaesthetic Challenges and Perioperative Management of Arnold Chiari Malformation Type 1: A Case Report

Arnold Chiari Malformation (ACM) is a group of deformities of the cranium and hindbrain, where there is herniation of cerebellar tonsils through the foramen magnum. Based on the morphology and degree of anatomic defects, Chiari malformations are categorised as type 1, 2, and 3, usually through imaging. While type 2 and 3 are more prevalent and occur in younger age groups, being present from birth, type 1 Chiari is the least severe and is more frequently found in adults. Numerous deformities, including spinal deformity, encephalocele, hydrocephalus, syrinx, and elevated intracranial pressure, are associated with it. Additionally, there are autonomic disturbances associated with it as well. As a result of all these factors, anaesthesiologists face significant challenges. Hereby, the authors present a case report of 52-year-old male patient of ACM type 1 associated with bony deformity at the craniovertebral junction and syrinx, who underwent cervical decompression with C1-C2 fixation. This patient had a tingling sensation and numbness in the left upper limb, with power in the left upper limb being 1/5 and progressive gait abnormalities. Additionally, the present patient had his right upper limb amputated below the elbow joint after a road traffic accident 10 years ago, which imposed more challenges regarding intravenous access. A well-thought-out, multidisciplinary approach is needed for its management. The management of adequate intraoperative anaesthesia in such cases will have an impact on the recovery after surgery of patients with ACM type 1.

Small pituitary volume and central nervous system anomalies in Fanconi Anemia.

Fanconi anemia (FA) is a genomic instability disorder associated with congenital abnormalities, including short stature and the presence of central nervous system anomalies, especially in the hypothalamic-pituitary area. Thus, differences in pituitary size could associate with the short stature observed in these patients. Our aim was to evaluate whether central nervous system abnormalities and pituitary gland volume correlate with height and hormone deficiencies in these patients. In this cross-sectional exploratory study 21 patients diagnosed with FA between 2017 and 2022 in a Spanish Reference Center were investigated. Magnetic resonance imaging (MRI) was performed and pituitary volume calculated and corelated with height and other endocrine parameters. The percentage of abnormalities in our series was 81%, with a small pituitary (pituitary volume less than 1 SD) being the most frequent, followed by Chiari malformation type 1. The median value of pituitary volume was -1.03 SD (IQR: -1.56, -0.36). Short stature was found in 66.7% [CI95% 43-85.4]. Total volume (mm3) increases significantly with age and in pubertal stages. There were no differences between volume SD and pubertal stage, or the presence of endocrine deficiencies. No correlations were found between pituitary volume and the presence of short stature. The intraclass correlation index (ICC) average for volume was 0.85 [CI95% 0.61-0.94] indicating a good-to-excellent correlation of measurements. Central nervous system anomalies are part of the FA phenotype, the most frequent after pituitary hypoplasia being posterior fossa abnormalities, which may have clinical repercussions in the patient. It is therefore necessary to identify those who could be candidates for neurosurgical intervention. The size of the pituitary gland is smaller in these patients, but this does not seem to be related to hormone deficiency and short stature or exposure to a low dose of total body irradiation.

Does Cerebrospinal Fluid Flow Imaging Aid Decision Making for Surgical Decompression in Chiari Malformation Type 1: Comparison of Symptoms Using Modified Rankin Scores

Does Cerebrospinal Fluid Flow Imaging Aid Decision Making for Surgical Decompression in Chiari Malformation Type 1: Comparison of Symptoms Using Modified Rankin Scores

Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation

Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation

Complication Avoidance in Chiari Malformation Surgery.

Posterior fossa decompression for symptomatic Chiari malformation is an effective and frequently performed procedure, but it does carry risks of significant complications including cerebrospinal fluid leak and craniocervical instability. Patients sometimes do not improve or worsen after decompression, which may discourage neurosurgeons from performing Chiari decompression surgery. In this chapter, management strategies and surgical approaches are discussed that minimize the risks of complications and maximize favorable outcomes in Chiari malformation surgery.

Severely obese 14-year-old boy with central sleep apnea several years after head trauma

Severely obese 14-year-old boy with central sleep apnea several years after head trauma

Кашлевая головная боль: клиника, диагностика, лечение

Cough headache can be primary, characterized by a benign course, or symptomatic, resulting from pathologies of the posterior cranial fossa structures. According to the latest classification of the International Headache Society (IHS), primary cough headache is included in the «other primary headaches» registry and is defined as headache provoked by coughing, sneezing, or straining during defecation in the absence of any intracranial disorders. Symptomatic cough headache due to Chiari malformation is considered under the rubric of «headache associated with nonvascular intracranial lesions» and classified as headache associated with Chiari malformation type I. Different types of cough headaches require careful differential diagnosis and different treatment approaches.

Reoperation-requiring postoperative intracranial haemorrhage after posterior fossa craniotomy: Retrospective case-series

IntroductionStudies report rates of treatment-requiring postoperative intracranial haemorrhage after craniotomy around 1–2%, but do not distinguish between supratentorial and posterior fossa operations. Reports about intracranial haemorrhages’ temporal occurrence show conflicting results. Recommendations for duration of postoperative monitoring vary. Research questionTo determine the rate, temporal pattern and clinical presentation of reoperation-requiring postoperative intracranial posterior fossa haemorrhage. Material and methods: This retrospective case-series identified cases operated with posterior fossa craniotomy or craniectomy between January 1, 2007 and December 31, 2021 by an electronic search in the patient administrative database, and collected data about patient- and treatment characteristics, postoperative monitoring, and the occurrence of haemorrhagic and other serious postoperative complications. ResultsWe included 62 (n = 34, 55% women) cases with mean age 48 (interquartile range 50) years operated for tumours (n = 34, 55%), Chiari malformations (n = 18, 29%), ischemic stroke (n = 6, 10%) and other lesions (n = 3, 5%). One (2%) 66-year-old woman who was a daily smoker operated with decompressive craniectomy and infarct resection, developed a reoperation-requiring postoperative intracranial haemorrhage after 25.5 h. In four (6%) cases, other serious complications requiring reoperation or transfer from the post anaesthesia care unit or regular bed wards to the intensive care unit occurred after 0.5, 6, 9 and 54 h, respectively. Discussion and conclusionTreatment-requiring postoperative intracranial haemorrhage and other serious complications after posterior fossa craniotomies occur over a wide timespan and are difficult to capture with a standardized postoperative monitoring time. This indicates that the duration of monitoring should be individualized based on assessment of risk factors.

Posterior Reversible Encephalopathy Syndrome with Addison’s Disease in a Known Case of Arnold Chiari Malformation

Posterior Reversible Encephalopathy Syndrome (PRES) is a life-threatening neurological disease. The aetiology of Addison’s disease has been modified from infectious to autoimmune pathology. Underlying pathogenesis is insufficient production of glucocorticoids and mineralocorticoids. Case series with PRES syndrome and Cushing’s syndrome have been reported but PRESS with adrenal insufficiency is rarely published. We hereby report an operated case of Arnold Chiari malformation presenting with first episode of generalised tonic clonic seizure and diarrhoea for four days. Postictal confusion was present for two hours. She was previously diagnosed with Addison’s disease. Patient had hypotension and dyselectrolytaemia. Systemic examinations were within normal limits. MRI brain revealed features of PRES. The authors encountered certain challenges in her management which included persistent hypokalaemia, hypocalcaemia and hypotension. Patient is on regular follow-up and she is currently asymptomatic. Prompt diagnosis of PRES and intensive case treatment is a must for the betterment of prognosis.

Pediatric Chiari Malformations Type I: Comparison of The Results of Two Surgical Techniques

Pediatric Chiari Malformations Type I: Comparison of The Results of Two Surgical Techniques

Clinical Outcome of Stealth Cranioplasty for Adult Chiari Malformation 1: An Encouraging Experience

Clinical Outcome of Stealth Cranioplasty for Adult Chiari Malformation 1: An Encouraging Experience

Individualized Functional Decompression Options for Adult Chiari Malformation With Syringomyelia and A Novel Scale for Syringomyelia Resolution: A Single-Center Experience.

To compare outcomes of posterior fossa bony decompression alone (PFD) versus PFD with duraplasty (PFDD) versus PFDD with additional obex exploration (PFDDO) in patients with Chiari malformation type I (CMI) combining syringomyelia. Clinical records of adult patients who underwent decompressions from 2014 to 2022 were retrospectively analyzed. The decompression procedure was individualized based on the cerebrospinal fluid pulse in the surgical field. The Chicago Chiari Outcome Scale (CCOS) was used to assess the prognosis of the patients and a novel syringomyelia resolution scale, based on 3-dimensional volume, was introduced. The percentage change in the cervical syrinx volume was classified as follows by resolution: ≥ 70%, 30%-70%, and < 30%. Seventy-eight individuals were enrolled, of which 22, 20, and 36 underwent PFD, PFDD, and PFDDO, respectively. The three decompression groups had no significant difference in the preoperative characteristics and postoperative prognosis. Multivariate analyses revealed that better CCOS was significantly correlated with younger age at surgery (p = 0.018), syrinx originated from lower cervical levels (p = 0.037), narrower preoperative cerebral aqueduct (p = 0.005), and better syrinx volume resolution (p = 0.004). Additionally, a better cervical syrinx volume resolution was significantly correlated with higher CCOS (p = 0.017), narrower cerebral aqueduct (p = 0.035), and better tonsillar descent resolution (p = 0.007). Individualized functional decompression induced an equal effect on CCOS and syrinx volume resolution for all CMI patients with syringomyelia. Our syringomyelia resolution scale facilitates communication and prediction of CMI prognosis.

Developmental and surgical anatomy of pathologies of the craniovertebral junction: a much-needed problematization of efficacy and long-term outcomes

Introduction. Due to its complex anatomy and function the craniovertebral junction (CVJ) is prone to several pathological conditions. The unique topography of neuro-vascular and bony structures makes surgical management of this area particularly challenging. Methods. A systematic online literature search was conducted in PubMed, Google Scholar, Scopus, and Web of Science with keywords relating to Chiari malformation, Wallenberg syndrome, Syringomyelia, and atlantoaxial dislocations. Results. This paper presents an up-to-date summary of the pathogenesis and surgical management of Chiari malformation, Wallenberg syndrome, syringomyelia, and atlantoaxial dislocation with particular emphasis on developmental and surgical anatomy. Conclusion. In such complex pathologies of the CVJ, the many factors contributing to the patient’s condition and the aspects playing a key role in the treatment process are all difficult to be considered concurrently. A better and universal surgical technique is impossible to be established.

Influence of affective disorders on outcomes after suboccipital decompression for adult Chiari I malformation

IntroductionAffective disorders (AD) have been shown to influence patient outcomes and healthcare resource utilization across several pathologies, though this relationship has not been described in patients with Chiari I malformations (CM-I). The aim of this study was to determine the impact of comorbid AD on postoperative events and healthcare resource utilization in adults following suboccipital decompression for CM-I. MethodsA retrospective study was performed using the 2016–2019 National Inpatient Sample database. Adults who underwent suboccipital decompression for CM-I were identified using ICD-10-CM codes. Patients were stratified into two cohorts, those with AD and those without (No AD). Patient demographics, comorbidities, operative characteristics, perioperative adverse events (AEs), and healthcare resource utilization were assessed. Multivariate logistic regression analyses were used to identify independent predictors of prolonged length of stay (LOS), exorbitant admission costs, and non-routine discharge (NRD). ResultsA total of 3985 patients were identified, of which 2780 (69.8%) were in the No AD cohort and 1205 (30.2%) were in the AD cohort. Patient demographics were similar, except for a greater proportion of Female patients than the No AD cohort (p = 0.004). Prevalence of some comorbidities varied between cohorts, including obesity (p = 0.030), ADHD (p < 0.001), GERD (p < 0.001), smoking (p < 0.001), and chronic pulmonary disease (p < 0.001). The AD cohort had a greater proportion of patients with 1–2 (p < 0.001) or ≥ 3 comorbidities (p < 0.001) compared to the No AD cohort. A greater proportion of patients in the AD cohort presented with headache compared to the No AD cohort (p = 0.003). Incidence of syringomyelia was greater in the No AD cohort (p = 0.002). A greater proportion of patients in the No AD cohort underwent duraplasty only (without cervical laminectomy) compared to the AD cohort (p = 0.021). Healthcare resource utilization was similar between cohorts, with no significant differences in mean LOS (No AD: 3.78 ± 3.51 days vs. 3.68 ± 2.71 days, p = 0.659), NRD (No AD: 3.8% vs. AD: 5.4%, p = 0.260), or mean admission costs (No AD: $20,254 ± 14,023 vs. AD: $29,897 ± 22,586, p = 0.284). On multivariate analysis, AD was not independently associated with extended LOS [OR (95%CI): 1.09 (0.72–1.65), p = 0.669], increased hospital costs [OR (95%CI): 0.98 (0.63–1.52), p = 0.930], or NRD [OR (95%CI): 1.39 (0.65–2.96), p = 0.302]. ConclusionOur study suggests that the presence of an AD may not have as much of an impact on postoperative events and healthcare resource utilization in adult patients undergoing Chiari decompression. Additional studies may be warranted to identify other potential implications that AD may have in other aspects of healthcare in this patient population.

Enormous Myelomeningocele of a Newborn: Case Report and Review of the Literature

The myelomeningocele, is a serious pathology with heavy consequences putting at stake the vital prognosis of the child, it is a congenital malformation resulting from a defect of closure of the neural tube. We report the case of a 25 days old newborn, in whom the antenatal diagnosis of myelomeningocele was confirmed by morphological ultrasound. The particularity of our case is the very low age of intervention as the enormous size of the myelomeningocele. Many congenital malformations of the central nervous system can be associated with this pathology going from the malformation of Arnold Chiari to the heterotopia, the discovery of this malformation imposes a complete malformative assessment, and a medical-surgical management. The main postoperative risk is the sepsis which is all the more serious and mortal that the age is young of the child at the time of the intervention.