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Neurologic Clinics May 2022Chiari Malformation Type I (CMI) is a congenital malformation diagnosed by MRI findings of at least 5 mm of cerebellar ectopy below the foramen magnum. CM1 is... (Review)
Review
Chiari Malformation Type I (CMI) is a congenital malformation diagnosed by MRI findings of at least 5 mm of cerebellar ectopy below the foramen magnum. CM1 is frequently associated with syringomyelia. Herein, we discuss the history of CMI and syringomyelia, including early pathological and surgical studies. We also describe recent investigations into the pathogenesis and pathophysiology of CMI and their practical implications on management and surgical intervention. We also highlight the recent development of the Common Data Elements for CMI, providing a framework for ongoing investigations. Finally, we discuss current controversies of surgical management in CMI.
Topics: Arnold-Chiari Malformation; Foramen Magnum; Humans; Magnetic Resonance Imaging; Syringomyelia
PubMed: 35465876
DOI: 10.1016/j.ncl.2021.11.007 -
World Neurosurgery Aug 2017Chiari malformation type 1 (CM-1) is a variation of hindbrain development that can sometimes occur in asymptomatic individuals. Conventional treatment is surgical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chiari malformation type 1 (CM-1) is a variation of hindbrain development that can sometimes occur in asymptomatic individuals. Conventional treatment is surgical decompression, but little is known about the natural history of patients who do not undergo surgical management. This information is critical to determine how these patients should be managed. We conducted a systematic literature review to determine the natural history of CM-1, particularly in patients who did not undergo surgery and in asymptomatic individuals, to help patients and physicians determine when surgery is likely to be beneficial.
METHODS
The literature search was performed following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines using the electronic databases PubMed, Scopus, Cochrane Library, and Web of Science. Inclusion and exclusion criteria were predefined.
RESULTS
In symptomatic patients who did not undergo surgery, headaches and nausea often improved, whereas ataxia and sensory disturbance tended not to improve spontaneously. Of patients, 27%-47% had an improvement in symptoms after 15 months, and 37%-40% with cough headache and 89% with nausea who were managed nonoperatively improved at follow-up. Most asymptomatic individuals with CM-1 remained asymptomatic (93.3%) even in the presence of syringomyelia.
CONCLUSIONS
The natural history of mild symptomatic and asymptomatic CM-1 in adults is relatively benign and nonprogressive; the decision to perform surgical decompression should be based on severity and duration of a patient's symptoms at presentation. It is reasonable to observe a patient with mild or asymptomatic symptoms even in the presence of significant tonsillar descent or syringomyelia.
Topics: Adult; Arnold-Chiari Malformation; Asymptomatic Diseases; Ataxia; Causality; Comorbidity; Disease Progression; Evidence-Based Medicine; Female; Headache; Humans; Incidence; Longitudinal Studies; Male; Nausea; Risk Factors; Sensation Disorders; Treatment Outcome
PubMed: 28435116
DOI: 10.1016/j.wneu.2017.04.082 -
Neurologia Jun 2019Much has been published on syringomyelia related to Chiari malformation. In contrast, little is known about the condition when it is not associated with this... (Review)
Review
INTRODUCTION
Much has been published on syringomyelia related to Chiari malformation. In contrast, little is known about the condition when it is not associated with this malformation, but this presentation of syringomyelia constitutes a different entity and therefore requires specific management. We conducted a literature review to summarise the most accepted and widespread ideas about the pathophysiology, management and other aspects of syringomyelia unrelated to Chiari malformation.
DEVELOPMENT
We reviewed the most relevant literature on this condition, focusing on the pathophysiology, clinical presentation, diagnosis, and treatment.
CONCLUSIONS
Syringomyelia unrelated to Chiari malformation is a distinct entity that must be well understood to guarantee correct diagnosis, monitoring, and management. When the disease is suspected, a thorough study should be conducted to identify its aetiology. Treatment must aim to eliminate the cause of the disease; symptomatic treatment should remain a second-line option.
Topics: Arnold-Chiari Malformation; Female; Humans; Magnetic Resonance Imaging; Male; Postoperative Complications; Syringomyelia; Treatment Outcome
PubMed: 27939111
DOI: 10.1016/j.nrl.2016.09.010 -
Journal of Clinical Sleep Medicine :... Sep 2022The main aim was to evaluate the prevalence of sleep-disordered breathing (SDB) in patients with Chiari II malformation (CM-II). The secondary objectives were to... (Review)
Review
STUDY OBJECTIVES
The main aim was to evaluate the prevalence of sleep-disordered breathing (SDB) in patients with Chiari II malformation (CM-II). The secondary objectives were to evaluate the association between SDB, morphological abnormalities, and neurological symptoms and to review the literature on patients with SDB and CM-II.
METHODS
The study has a cross-sectional, case-control design. Patients with CM-II (patients) were compared to control patients referred for clinical polysomnography in the Sleep Medicine Unit, matched for age and sex. All patients underwent brain and spinal cord magnetic resonance imaging, and polysomnography was conducted for all participants. A review of the literature about SDB in patients with CM-II was performed.
RESULTS
Forty patients were included (20 patients vs 20 control patients). SDB was identified in 45% of patients, a significantly higher prevalence compared to control patients. Three patients presented with purely obstructive SDB, 3 patients with purely central SDB, and 3 patients with both obstructive and central SDB. Compared with control patients, patients with CM-II showed a higher oxygen desaturation index (median: CM-II, 3.7; interquartile range, 1.6-19.5; control patients: 1.1; interquartile range, 0.3-3.2) and obstructive apnea-hypopnea index (median: CM-II, 1.5; interquartile range, 0.5-5.1; control patients, 0.1; interquartile range, 0.0-0.7). A logistic regression showed that the risk of developing SDB in patients affected by CM-II was 14.7 times higher than in the control population.
CONCLUSIONS
Our study and literature review showed a high prevalence of SDB in patients with CM-II. These patients are often asymptomatic at diagnosis, suggesting that PSG should be routinely provided in this population.
CITATION
Lazzareschi I, Curatola A, Massimi L, et al. Sleep-disordered breathing in patients with Chiari malformation type II: a case-control study and review of the literature. 2022;18(9):2143-2154.
Topics: Arnold-Chiari Malformation; Case-Control Studies; Cross-Sectional Studies; Humans; Polysomnography; Sleep Apnea Syndromes
PubMed: 35645039
DOI: 10.5664/jcsm.10062 -
Cephalalgia : An International Journal... Aug 2022Chiari I malformation typically presents with cough headache. However, migraine-like or tension-type-like headaches may also occur. There are limited publications on...
BACKGROUND
Chiari I malformation typically presents with cough headache. However, migraine-like or tension-type-like headaches may also occur. There are limited publications on Chiari I malformation-associated headache semiologies and the effect of foramen magnum decompression on different headache types.
METHODS
A retrospective analysis complemented by structured phone interviews was performed on 65 patients with Chiari I malformation, treated at our hospital between 2010 and 2021. Headache semiology (according to ICHD-3), frequency, intensity, and radiological characteristics were evaluated pre- and postoperatively.
RESULTS
We included 65 patients. 38 patients were female and 27 male. Mean age was 43.9 ± 15.7 years. Headache was predominant in 41 patients (63.0%). Twenty-one patients had cough headache and 20 had atypical headache (12 migrainous, eight tension-type headache-like). Thirty-five patients with headache underwent surgery. Frequency, intensity, and analgesic use was significantly reduced in cough headache ( < 0.001). Atypical headaches improved less ( = 0.004 to 0.176). Exploratory analysis suggested that larger preoperative tonsillar descent correlated with larger postoperative headache intensity relief ( = 0.025).
CONCLUSION
Decompression was effective in Chiari I malformation-related cough headache. Atypical headache responded less well, and the causal relation with Chiari I malformation remains uncertain. For atypical headache, decompression should only be considered after failed appropriate preventive therapy and within an interdisciplinary approach involving a neurologist.
Topics: Adult; Arnold-Chiari Malformation; Decompression, Surgical; Female; Headache; Headache Disorders, Primary; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Migraine Disorders; Retrospective Studies
PubMed: 35236163
DOI: 10.1177/03331024221079296 -
Neurology India 2010Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly... (Review)
Review
Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available.
Topics: Arnold-Chiari Malformation; Brain; Humans; Magnetic Resonance Imaging; Spinal Cord
PubMed: 20228456
DOI: 10.4103/0028-3886.60387 -
The Journal of Bone and Joint Surgery.... Aug 2009We describe a case of type-I Arnold-Chiari malformation in a 27-year-old woman who presented on two separate occasions with an apparent whiplash injury. She developed...
We describe a case of type-I Arnold-Chiari malformation in a 27-year-old woman who presented on two separate occasions with an apparent whiplash injury. She developed debilitating symptoms after two apparently low velocity vehicle collisions. MRI revealed a type-I Arnold-Chiari malformation. She was referred for consideration of neurosurgical decompression. Type-I Arnold-Chiari malformation is the downward herniation of the cerebellar tonsils through the foramen magnum. It is usually asymptomatic but may present after apparently insignificant trauma with a wide range of possible symptoms. The protean nature of its presentation and the similarity of the symptoms to those of a whiplash injury mean that it is easily overlooked. It is, however, important that it is detected early.
Topics: Accidents, Traffic; Adult; Arnold-Chiari Malformation; Decompression, Surgical; Diagnosis, Differential; Female; Headache; Humans; Neck Pain; Whiplash Injuries
PubMed: 19651845
DOI: 10.1302/0301-620X.91B8.22266 -
Neurology India 2021Chari 1 malformation, a radiologic finding of caudal cerebellar tonsillar displacement, has a clinical course that can range from benign to complications involving... (Review)
Review
Chari 1 malformation, a radiologic finding of caudal cerebellar tonsillar displacement, has a clinical course that can range from benign to complications involving life-threatening hydrocephalus. While the pathophysiologic processes underlying this variation in outcome remain a matter of scientific debate, the clinical realities and decision-making conundrums that these patients pose require a coherent approach to this entity. In this review, we seek to highlight the various processes underlying the development of hydrocephalus in patients with Chiari 1 malformations. Hydrocephalus may occur as a cause, consequence, or in parallel with the development of Chiari 1 malformation, and understanding the etiology of such hydrocephalus is critical to the treatment of Chiari 1 malformations with associated hydrocephalus. We further discuss the literature pertaining to the management of these patients and unify the current scientific thinking on Chiari 1 malformations with the extant data on operative management of Chiari 1 to develop a structured and pragmatic approach to the diagnosis and management of patients with Chiari 1-associated hydrocephalus.
Topics: Arnold-Chiari Malformation; Humans; Hydrocephalus
PubMed: 35102989
DOI: 10.4103/0028-3886.332274 -
Neurological Sciences : Official... Feb 2022Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the...
BACKGROUND
Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children.
METHODS
A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three).
RESULTS
Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery."
CONCLUSIONS
The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.
Topics: Arnold-Chiari Malformation; Child; Consensus; Delphi Technique; Humans; Italy; Syringomyelia
PubMed: 34097175
DOI: 10.1007/s10072-021-05317-9 -
Pediatric Neurology May 2020Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological...
BACKGROUND
Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisticated, and new radiological markers of disease have been described. We sought to determine the prevalence and impact of additional comorbidities and underlying diagnoses in patients with Chiari malformation type 1 on symptomatology and surgical treatment.
METHODS
A retrospective review of 612 pediatric patients with a Chiari malformation type 1 diagnosis and imaging data evaluated between 2008 and 2018 was performed. Because of extensive clinical heterogeneity, patients were separated into four categories based on their primary comorbidities (nonsyndromic, central nervous system, skeletal, and multiple congenital anomalies) to identify associations with age of onset, radiographic measurements, syringomyelia, and surgical treatment.
RESULTS
The largest group had nonsyndromic Chiari malformation type 1 (70%) and the latest age at diagnosis of any group. In the syndromic group, 6% were diagnosed with a known genetic abnormality, with overgrowth syndromes being the most common. Patients with multiple congenital anomalies had the earliest Chiari malformation type 1 onset, the most severe tonsillar ectopia and obex position, and were overrepresented among surgical cases. Although there were no statistically significant differences between groups and rates of syrinx, we observed differences in individual diagnoses.
CONCLUSION
The underlying diagnoses and presence of comorbidities in patients with Chiari malformation type 1 impacts rates of syringomyelia and surgery. Although most Chiari malformation type 1 cases are nonsyndromic, clinical evaluation of growth parameters, scoliosis, and joint hypermobility should be routine for all patients as they are useful to determine syringomyelia risk and may impact treatment.
Topics: Abnormalities, Multiple; Adolescent; Age of Onset; Arnold-Chiari Malformation; Central Nervous System Diseases; Child; Comorbidity; Connective Tissue Diseases; Female; Genetic Diseases, Inborn; Humans; Incidence; Joint Diseases; Joint Instability; Magnetic Resonance Imaging; Male; Prevalence; Retrospective Studies; Scoliosis; Spinal Diseases; Syndrome; Syringomyelia
PubMed: 32113729
DOI: 10.1016/j.pediatrneurol.2019.12.005