Materiały źródłowe

• #1 Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10607306/

  Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. […] The prevalence of this disease is unknown. Of the different types, CM-I is the most common, and its prevalence is estimated to be around 1 in 1000 births. […] The majority of published articles on Arnold Chiari Syndrome (ACS) agree that the prevalence of this condition is unknown and often underestimated; this could be attributed to the significant number of asymptomatic cases it presents. Some authors have tried to determine its prevalence. According to Ciaramitaro et al., the prevalence of CM in Italy is 7.74 CI 95% (6.9658.596), and its incidence is 3.08 CI 95% (2.6053.635). They also studied the incidence and prevalence of syringomyelia due to the high association with this syndrome, resulting in a prevalence of 4.84 CI 95% (4.1245.527) and an incidence of 0.82 CI 95% (0.5991.137).

• #1 Epidemiology of Chiari I Malformation | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-030-44862-2_21

  Almost 1% of normal adults studied with magnetic resonance imaging (MRI) of the brain will have a finding of Chiari I malformation based on 5 mm or more of cerebellar tonsillar ectopia, while as many as 3.6% of normal children will have a Chiari I malformation finding using the same criteria. […] The proportion of adults with symptoms and MRI evidence of Chiari I malformation is estimated to be in the range of 0.010.04%. […] Symptoms of Chiari I malformation occurred in 0.007% of children in one study. […] Factors reported to increase the likelihood of developing Chiari I malformation include birth injury, trauma, pseudotumor cerebri, hydrocephalus, ancestry from a Pacific island, female gender in adults in the United States, and male gender in the Tatarstan, Russia. […] Going forward, more rigorous measurements of the prevalence and incidence of Chiari I malformation would result from prospective epidemiologic studies of large populations designed for this purpose than from retrospective queries of the databases of private and governmental healthcare organizations. […] Bogdanov EI, Faizutdinova AT, Mendelevich EG, Sozinov AS, Heiss JD. Epidemiology of symptomatic Chiari malformation in Tatarstan: regional and ethnic differences in prevalence.

• #1 Chiari Malformation: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/1483583-overview

  The most common Chiari malformation is type I and has been estimated to occur in 1 in 1000 births. The majority of these cases are asymptomatic. Chiari malformations are often detected coincidently among patients who have undergone diagnostic imaging for unrelated reasons. There is a slight female predominance of 1.3:1. Chiari II is associated with neural tube defects, particularly myelomeningocele, in around 100% of cases. […] Although Chiari malformation is still listed as a rare disease by the Office of Rare Diseases of the National Institutes of Health, this categorization is based on outdated data from before the MRI era. With routine use of MR imaging, Chiari malformation is discovered with increasing frequency. For Chiari I, prevalence rates of 0.1-0.5% with a slight female predominance have been suggested. Chiari II is found in all children with myelomeningocele, although less than one third develop symptoms referable to this malformation.

• #1 Epidemiology of the Chiari I Malformation | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-4614-6369-6_6

  Almost 1 % of normal adults undergoing MRI scanning have cerebellar tonsillar ectopia of 5 mm or more, sufficient for radiographic diagnosis of Chiari I malformation (CM1). Only about 0.010.04 % of adults demonstrate symptoms and MRI evidence of CM1. […] Prospective well-designed studies of large populations will provide better estimates of CM1 prevalence than existing retrospective queries of the databases of private and governmental healthcare organizations. […] Factors predisposing to CM1 include an affected close relative, birth injury, trauma, pseudotumor cerebri, hydrocephalus, Pacific island ancestry, female gender in US adults, male gender in Russian Tartar adults, and possibly epigenetic changes.

• #1 Epidemiology of Chiari Malformations in Children – ISPN Guide

  https://ispn.guide/congenital-disorders-of-the-nervous-system-in-children/chiari-malformations-in-children-homepage/epidemiology-of-chiari-malformations-in-children/

  Prevalence estimated at less than 1%: There are no population-based studies on the incidence or prevalence of Chiari malformations. From clinical series, prevalence has been estimated between 0.1 and 0.5%, but it is possible that higher rates could have resulted from more widespread recent use of MRI. Another study estimated a prevalence of 0.77% based on the total population of patients undergoing MRI of the head at a tertiary care center over a period of 3.5 years. Of these patients, 14% were clinically asymptomatic. […] 3.6% prevalence for radiographic Chiari I: In a pediatric study in which an 11-year brain MRI database of 14,116 children was studied, 509 patients (3.6%) met radiologic criteria for Chiari I malformation, with a mean tonsillar descent below the foramen magnum of 10.2 mm. Compared to previous work, this study comprised a much higher percentage of asymptomatic patients.

• #1 Chiari Malformation and Syringomyelia, a pediatric clinical case review and discussion

  https://pediatriceducation.org/2025/04/21/what-symptoms-are-associated-with-syringomyelia-and-chiari-1-malformations/

  CM1 prevalence is estimated at 0.24% 3.6%, and symptomatic CM1 varies between 32-63%. […] One study of children estimated a prevalence of symptomatic CM1 at 7:100,000. […] Syr associated with CM1 was found to be 23% in one pediatric study or overall 0.83% of the study population. […] Another study estimated the prevalence of a symptomatic Syr at 4.84:100,000. […] The actual prevalence and incidence varies with different epidemiological studies which are prone to detection bias. […] Females are more likely to have CM1 and a Syr. […] Older pediatric age groups are more likely to have symptoms but that may also be due to difficulty of diagnosis in young children. […] In a 2021 review of the management of CM1 in children found that: Children with CM1 without Syr who were asymptomatic or mildly symptomatic generally had a benign prognosis and did well with conservative management.

• #1 Developments in the treatment of Chiari type 1 malformations over the past decade – Passias – Journal of Spine Surgery

  https://jss.amegroups.org/article/view/4087/html

  CM-1 primary diagnoses have increased over time (45 to 96 per 100,000). […] The prevalence of CM-1 diagnoses has increased from 2003 to 2012, from 45 to 96 per 100,000 (P0.001). […] CM-1 diagnoses have increased in the last decade.

• #1 Epidemiology | Neupsy Key

  https://neupsykey.com/epidemiology-5/

  The Tartar population in the Volga-Ural region of Russia, including Bashkortostan, Tatarstan and other areas, suffers from a particularly high prevalence of syringomyelia, at 130 per 100,000 inhabitants. […] The prevalence among both Tartars and other ethnic groups varied significantly across different regions of Tatarstan, ranging between 3.7 and 93 per 100,000 adults in Tartars and between 2 and 92 per 100,000 in a population composed mainly of Russians. […] Elsewhere in the world, the distribution of syringomyelia and related conditions, by country, region and even small territories, is extremely non-uniform (Table 2.3, Fig. 2.1). […] The high prevalence of syringomyelia in the north of Tatarstan may be associated not just with the predominance of the Tartar population in this region but also the employment of these people, mainly in physically demanding jobs in agriculture (authors own data).

• #1

  https://journals.lww.com/neurosurgery/fulltext/2019/05000/epidemiology_of_symptomatic_chiari_malformation_in.13.aspx

  Epidemiology can assess the effect of Chiari I malformation (CM1) on the neurological health of a population and evaluate factors influencing CM1 development. […] The population of the Republic of Tatarstan (RT) in the Russian Federation was evaluated for patients with CM1 symptoms over an 11-yr period. […] MRI evidence of CM1, defined as cerebellar tonsils lying at least 5 mm inferior to the foramen magnum, was found in 67% of symptomatic patients. […] The period prevalence in the entire RT for symptomatic CM1 was 20:100 000; for bCM1 was 10:100 000; and for CM1 and bCM1 together was 30:100 000. […] Prevalence of patients with CM1 symptoms was greater in the northern than southern districts of Tatarstan, due to a high prevalence (413:100 000) of CM1 in the Baltasy region in one of the northern districts. […] A regional disease cluster of patients with Chiari malformation was found in Baltasy district of RT and needs further study.

• #1 Chiari malformation and syringomyelia in: Journal of Neurosurgery: Spine Volume 31 Issue 5 (2019) Journals

  https://thejns.org/spine/view/journals/j-neurosurg-spine/31/5/article-p619.xml

  From a clinicians viewpoint, patients with Chiari anomalies present most frequently at two time periods: in early childhood (8 and 9 years) and in adults, with peak ages between 41 and 46 years.6 The reasons for these incidence peaks are not understood at the present time. There are, however, differences in treatment and treatment outcomes that apply to patients treated in early childhood and adult patients.

• #1 Arnold-Chiari malformation epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Arnold-Chiari_malformation_epidemiology_and_demographics

  The prevalence of Arnold Chiari malformation is unknown since most of the cases are accidentally found. […] It is believed that approximate prevalence is 0.1 to 0.5 percent worldwide. […] The mortality rate of Arnold Chiari malformation depends on the subtype. […] Type 3 has the highest mortality rate as a result of respiratory failure in infancy. […] Arnold Chiari malformation commonly affects adolescence and adulthood, but also has been seen in younger children. […] There is no racial predilection to Arnold Chiari malformation. […] Women are more commonly affected by Arnold Chiari malformation than men. The women to men ratio is approximately 3 to 1.

• #1 Chiari Malformation: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/1483583-overview

  In an analysis of patients with Chiari I over a 14-year period in the United States, 34% of Chiari I decompression operations were performed in patients younger than 20 years. Of adult patients who underwent decompression, 78% were female, whereas only 53% of children were female. The rate of decompression surgery increased 51% in younger patients from the first half to the second half of the study period and increased 28% in adult patients (20-65 yr of age).

• #1 Epidemiology of Chiari Malformations in Children – ISPN Guide

  https://ispn.guide/congenital-disorders-of-the-nervous-system-in-children/chiari-malformations-in-children-homepage/epidemiology-of-chiari-malformations-in-children/

  All ages with majority diagnosed in late childhood: Although most patients with Chiari I malformation are diagnosed in late childhood to early adulthood, it is not uncommon for young children and older adults to present with symptoms. Since Chiari II malformation is associated with myelomeningocele, patients are diagnosed at birth. […] No difference: No population-based studies have been performed, but most clinical cohorts show equal incidence or a slight female predominance. […] No distribution apparent: There is no particular ethnic or geographic distribution. […] None known: There are no known risk factors, other than family history.

• #1 Chiari I malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/chiari-i-malformation?lang=us

  Chiari I malformations are more frequently encountered in females 1. […] Although Chiari I malformations are often isolated abnormalities, the following findings may be seen in association: cervical cord syrinx in ~35% (range 20-56%): more common in symptomatic patients, hydrocephalus in 7-10% of cases, the relationship remains poorly understood and whether the hydrocephalus or Chiari 1 malformation is the primary abnormality continues to be debated 12, abnormal CSF flow dynamics through the central canal of the cord and around the medulla, posterior fossa size, intracranial pressure and venous pressures have all been implicated as potentially contributory 13, skeletal anomalies in ~35% (range 23-45%) 2,3.

• #1

  https://journals.lww.com/neur/fulltext/2021/69002/chiari_1_and_hydrocephalus___a_review.17.aspx

  Chiari 1 malformation (C1M) is commonly defined as a caudal displacement of the cerebellar tonsils exceeding 5 mm past the foramen magnum. This radiological finding is seen in 1% of the adult and up to 4% of the pediatric population and is rarely symptomatic, with asymptomatic isolated C1M having a relatively benign natural history. However, some patients with symptomatic C1M also present with hydrocephalus, diagnosed either before or after surgical decompression. The prevalence of hydrocephalus in patients with Chiari 1 malformations ranges from 6.5% to 9.6%, and comorbid hydrocephalus is an independent predictor of morbidity following surgical decompression. Clouding the clinical picture, the development of hydrocephalus following Chiari decompression is a known surgical complication, occurring in between 1% and 9% of operated patients in various case series. The association between hydrocephalus and Chiari malformations is more complicated than this theory suggests because treatment and resolution of hydrocephalus fail to improve hindbrain herniation or symptoms in many patients. Previous authors have suggested categorizing Chiari 1 malformation with hydrocephalus into groups based on their pathophysiology. We likewise propose categorizing Chiari 1 malformation-associated hydrocephalus into three groups in order to guide treatment planning: Hydrocephalus with secondary C1M, C1M with secondary hydrocephalus, and C1M with concurrent hydrocephalus. When encountering a patient with CIM and hydrocephalus, it is important to perform a thorough history and physical examination and augment this with sufficient imaging to make an educated guess as to the best initial course of action. A general approach to the treatment of Chiari 1 malformations with hydrocephalus is to treat the hydrocephalus with CSF diversion prior to suboccipital decompression.

• #1 Chiari II malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/chiari-ii-malformation?lang=us

  Chiari II malformations are commonly encountered, with an incidence of ~1:1000 live births. When a child is born with a myelomeningocele, the vast majority (~95%) have an associated Chiari II malformation. […] Chiari II malformations are relatively common congenital malformations of the spine and posterior fossa characterized by myelomeningocele (lumbosacral spina bifida aperta) and a small posterior fossa with descent of the brainstem, cerebellar tonsils, and vermis through the foramen magnum. Numerous associated abnormalities are also frequently encountered.

• #1 Chiari malformation | Neurosurgery Inselspital Bern

  https://neurochirurgie.insel.ch/en/diseases-specialities/liquor-disorders/chiari-malformation

  Approximately 1% of all healthy adults who undergo magnetic resonance imaging (MRI) of the head show a caudal displacement of the cerebellar tonsils, that is, a displacement of parts of the cerebellum downwards into the foramen magnum and the spinal canal. […] However, only 0.01 to 0.04% of those affected show symptoms. […] Chiari malformation type II is an anomaly that occurs in about 1 of 1000 births and is a specific form of the disease. […] Due to improved prenatal diagnostics and preventive measures such as the intake of folic acid during pregnancy, the rate of spina bifida and thus also Chiari II malformation is declining in many countries.

• #1 Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

  https://www.mdpi.com/2076-3425/13/12/1658

  Chiari I malformation (CM) often coexists with a spinal cord syrinx. However, gauging the actual prevalence of CM and syrinx is challenging due to the absence of a flawless diagnostic tool applicable to the entire population. Instead, medical professionals often depend on approximations, primarily sourced from extensive retrospective studies examining brain and spinal imagery. […] Estimates suggest CM affects anywhere from 0.24% to 3.6% of individuals. This variance can be attributed to differences in the diagnostic sensitivity for CM and the diverse populations studied. […] Age plays a significant role in CM’s prevalence. Research indicates that CM is more commonly found in children. Notably, MRI scans reveal that the position of the cerebellar tonsil varies with age, descending during early life and rising again in adulthood.

• #1 Genetic dissection of Chiari malformation type 1 using endophenotypes and stratification

  https://www.rarediseasesjournal.com/articles/genetic-dissection-of-chiari-malformation-type-1-using-endophenotypes-and-stratification.html

  Chiari malformation type 1 (CM-1) is the most prevalent form of the Chiari malformations, and is characterized by a downward herniation of the caudal part of the cerebellum through the foramen magnum into the upper cervical region. CM-1 is quite heterogeneous with respect to symptomatology, epidemiology and treatment. The incidence, prevalence and distribution of CM-1 is still unclear, and estimations vary depending on the criteria used to characterize the disease: TH criterion alone, TH criterion accompanied by symptomatology or a defining mechanism of the TH. For example, in the United States (US), almost 1 % of normal adults undergoing MRI scanning have at least 5mm of TH but only about 0.01-0.04 % of adults demonstrate symptoms of CM-1. Epidemiological data from other countries is generally missing. Moreover, in the US, estimates of the prevalence based on specific subtypes and/or comorbid conditions are scarce. Thus, the true prevalence of the condition, with respect to all forms of clinical heterogeneity is unknown.

• #1 Genetic dissection of Chiari malformation type 1 using endophenotypes and stratification

  https://www.rarediseasesjournal.com/articles/genetic-dissection-of-chiari-malformation-type-1-using-endophenotypes-and-stratification.html

  The presence of multiplex families with several CM-1 cases, the co-occurrence of CM-1 in monozygotic twins and the co-inheritance with known genetic syndromes strongly argue for a genetic contribution to CM-1 pathogenicity. Despite this evidence, the precise genetic variants causative of the disease remain elusive in most cases. Several genetic studies, using different approaches (mutational analysis, whole genome linkage analysis, genetic association, expression analysis) have been performed in order to attempt to identify the genetic traits underlying this disease.

• #1 Population-based description of familial clustering of Chiari malformation Type I in: Journal of Neurosurgery Volume 128 Issue 2 (2017) Journals

  https://thejns.org/view/journals/j-neurosurg/128/2/article-p460.xml

  A population-based genealogical resource with linked medical data was used to define the observed familial clustering of Chiari malformation Type I (CM-I). […] A total of 2871 patients with CM-I with at least 3 generations of genealogical data were identified. […] This population-based description of the familial clustering of 2871 patients with CM-I provided strong evidence for a genetic contribution to a predisposition to CM-I.

• #1 Top Published Expert Doctors for Arnold-Chiari Malformation

  https://findexpertmd.com/d/Arnold-Chiari_Malformation

  737 top medical experts on Arnold-Chiari Malformation across 37 countries and 41 U.S. states, including 690 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 22 including 1 Active, 11 Completed, 6 Recruiting.

• #1 Chiari Malformation – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506614-chiari-malformation-market-insight-epidemiology.html

  DelveInsight’s „Chiari Malformation – Market Insights, Epidemiology, and Market Forecast – 2034” report delivers an in-depth understanding of the Chiari Malformation, historical and forecasted epidemiology as well as the Chiari Malformation market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The Chiari Malformation epidemiology division provide insights about historical and current Chiari Malformation patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Chiari Malformation epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034.

• #1 Research roundup: Recent publications from Emory faculty and staff

  https://news.emory.edu/stories/2025/hs_research_roundup_may_07-05-2025/story.html

  Emory researchers have found a promising new way to predict which patients with a certain congenital brain malformation would respond well to surgical intervention. […] The study was led by John Oshinski, PhD, professor of radiology and imaging sciences and biomedical engineering and Daniel Barrow, MD, professor of. […] The researchers used magnetic resonance imaging (MRI) to measure cerebrospinal fluid (CSF) flow/stroke volume, the amount of cerebrospinal fluid passing through the cerebral aqueduct during a heart cycle. […] An effective way to identify the conditions that would predict positive surgical outcomes is vital. […] The researchers found that presurgical measures of cerebral dynamics better predicted improvements to CSF flow and brain motion after surgery than the conventional measure of presurgical tonsillar descent. […] The team plans to validate the work through a larger clinical trial.

• #1 Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

  https://www.mdpi.com/2076-3425/13/12/1658

  Imaging studies offer the most accurate prevalence estimates for CM, especially when considering the many asymptomatic individuals who meet the imaging diagnostic criteria. Interestingly, females are more likely to have CM based on imaging results. They also tend to exhibit a lower position of the cerebellar tonsil across all ages when compared to males. […] In summary, CM prevalence differs across age and gender demographics. Truly estimating its occurrence within the general population remains a complex task. Ongoing research aims to gain a clearer understanding of how age impacts tonsil positioning and the related conditions to better grasp CM’s epidemiology. […] In studying Chiari malformation (CM) and associated disorders, temporal trends refer to the analysis of how the prevalence, incidence, or specific features of these conditions have transformed over various periods or generations.

• #1 Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

  https://www.mdpi.com/2076-3425/13/12/1658

  A substantial amount of research has been directed towards understanding the connections between syringomyelia and other diseases. However, there is a noticeable deficit in exhaustive and unbiased accounts of the research progress of syringomyelia. The present study endeavored to perform a bibliometric analysis to bridge this gap, charting the research trajectory of syringomyelia and identifying emergent themes over the past two decades.

• #2 Chiari malformation and syringomyelia in: Journal of Neurosurgery: Spine Volume 31 Issue 5 (2019) Journals

  https://thejns.org/spine/view/journals/j-neurosurg-spine/31/5/article-p619.xml

  Chiari malformation was first described over a century ago, and consists of posterior fossa anomalies that generally share the feature of cerebellar tonsillar descent through the foramen magnum. […] Although the number of patients with the imaging diagnosis of Chiari anomaly has increased greatly since the availability of MRI, the true incidence of clinically significant Chiari anomalies is considerably lower. This is the result of varying criteria used by radiologists to make a diagnosis of Chiari anomaly, as well as the problem of estimating the prevalence of Chiari anomaly on the select group of individuals undergoing imaging. The prevalence has been cited as 0.24%3.6% of the population,43 and 0.56%0.77% based on MRI studies.6,53 The true incidence of the structural abnormalities forming the diagnostic criteria of Chiari anomaly in the population is presumably much higher because there undoubtedly are many individuals who remain asymptomatic, even though they have structural abnormalities typical of the Chiari anomaly.

• #2 Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

  https://www.mdpi.com/2076-3425/13/12/1658

  Chiari I malformation (CM) often coexists with a spinal cord syrinx. However, gauging the actual prevalence of CM and syrinx is challenging due to the absence of a flawless diagnostic tool applicable to the entire population. Instead, medical professionals often depend on approximations, primarily sourced from extensive retrospective studies examining brain and spinal imagery. […] Estimates suggest CM affects anywhere from 0.24% to 3.6% of individuals. This variance can be attributed to differences in the diagnostic sensitivity for CM and the diverse populations studied. […] Age plays a significant role in CM’s prevalence. Research indicates that CM is more commonly found in children. Notably, MRI scans reveal that the position of the cerebellar tonsil varies with age, descending during early life and rising again in adulthood.

• #2 Genetic dissection of Chiari malformation type 1 using endophenotypes and stratification

  https://www.rarediseasesjournal.com/articles/genetic-dissection-of-chiari-malformation-type-1-using-endophenotypes-and-stratification.html

  Chiari malformation type 1 (CM-1) is the most prevalent form of the Chiari malformations, and is characterized by a downward herniation of the caudal part of the cerebellum through the foramen magnum into the upper cervical region. CM-1 is quite heterogeneous with respect to symptomatology, epidemiology and treatment. The incidence, prevalence and distribution of CM-1 is still unclear, and estimations vary depending on the criteria used to characterize the disease: TH criterion alone, TH criterion accompanied by symptomatology or a defining mechanism of the TH. For example, in the United States (US), almost 1 % of normal adults undergoing MRI scanning have at least 5mm of TH but only about 0.01-0.04 % of adults demonstrate symptoms of CM-1. Epidemiological data from other countries is generally missing. Moreover, in the US, estimates of the prevalence based on specific subtypes and/or comorbid conditions are scarce. Thus, the true prevalence of the condition, with respect to all forms of clinical heterogeneity is unknown.

• #2 Chiari I Malformation (CMI) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/406849-overview

  Evaluation by Davidson et al of a large group of patients with incidentally discovered Chiari I malformations demonstrated that most patients can be managed conservatively, especially in the absence of syringomyelia. […] With the widespread availability and use of MRI, incidental Chiari I malformation is now more commonly recognized.

• #2 Chiari Malformation – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/neurology-neurosurgery/congenital-anomalies/chiari-malformation

  In children, CM occurs equally in boys and girls. In adults, it is three times more common in women than men. Family history also increases the risk of CM. […] Chiari malformation is evaluated with a medical history and physical exam along with imaging tests such as MRI and/or CT scan.

• #2 Epidemiology of the Chiari I Malformation | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-4614-6369-6_6

  Almost 1 % of normal adults undergoing MRI scanning have cerebellar tonsillar ectopia of 5 mm or more, sufficient for radiographic diagnosis of Chiari I malformation (CM1). Only about 0.010.04 % of adults demonstrate symptoms and MRI evidence of CM1. […] Prospective well-designed studies of large populations will provide better estimates of CM1 prevalence than existing retrospective queries of the databases of private and governmental healthcare organizations. […] Factors predisposing to CM1 include an affected close relative, birth injury, trauma, pseudotumor cerebri, hydrocephalus, Pacific island ancestry, female gender in US adults, male gender in Russian Tartar adults, and possibly epigenetic changes.

• #2 Chiari I Malformation (CMI) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/406849-overview

  Chiari I malformation, or Chiari malformation type I (CMI), is the most common, having been estimated to occur in 1 in 1000 births. […] CMI is more common in females. […] Chiari I malformation is usually an isolated abnormality, but it can be associated with other abnormalities, including cervical cord syrinx (20%56% cases), hydrocephalus (7%10% cases), and skeletal anomalies (23%45 % cases). […] Incidental finding of Chiari I malformation in asymptomatic patients on MRI does not require routine followup imaging. […] In symptomatic patients, CSF velocity at the craniovertebral junction (CVJ) is known to be altered. […] Although the association of Chiari I malformation with cranial and vertebral anomalies is well known, this condition is not directly associated with other neuroectodermal abnormalities (ie phakomatoses).

• #2 Chiari Malformation: Practice Essentials, Problem, Epidemiology

  https://emedicine.medscape.com/article/1483583-overview

  The most common Chiari malformation is type I and has been estimated to occur in 1 in 1000 births. The majority of these cases are asymptomatic. Chiari malformations are often detected coincidently among patients who have undergone diagnostic imaging for unrelated reasons. There is a slight female predominance of 1.3:1. Chiari II is associated with neural tube defects, particularly myelomeningocele, in around 100% of cases. […] Although Chiari malformation is still listed as a rare disease by the Office of Rare Diseases of the National Institutes of Health, this categorization is based on outdated data from before the MRI era. With routine use of MR imaging, Chiari malformation is discovered with increasing frequency. For Chiari I, prevalence rates of 0.1-0.5% with a slight female predominance have been suggested. Chiari II is found in all children with myelomeningocele, although less than one third develop symptoms referable to this malformation.

• #2 Chiari Malformation – AANS

  https://www.aans.org/patients/conditions-treatments/chiari-malformation/

  The prevalence in the general population has been estimated at slightly less than one in 1000. The majority of these cases are asymptomatic. Chiari malformations are often detected coincidently among patients who have undergone diagnostic imaging for unrelated reasons. […] Treatment of Chiari malformations and syringomyelia is very dependent on the exact type of malformation, as well as progression in anatomy changes or symptoms.

• #2 Chiari Malformation: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/6008-chiari-malformation

  Studies suggest that Chiari malformations occur in about 1 in every 1,000 people in the United States. […] Chiari malformations are almost always present at birth (congenital), though symptoms may not develop until later in life. […] A Chiari malformation can affect anyone. You may be more likely to develop a Chiari malformation if someone in your biological family has the condition.

• #2 Chiari Malformation – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506614-chiari-malformation-market-insight-epidemiology.html

  DelveInsight’s „Chiari Malformation – Market Insights, Epidemiology, and Market Forecast – 2034” report delivers an in-depth understanding of the Chiari Malformation, historical and forecasted epidemiology as well as the Chiari Malformation market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The Chiari Malformation epidemiology division provide insights about historical and current Chiari Malformation patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Chiari Malformation epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034.

• #2 Chiari Malformation – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506614-chiari-malformation-market-insight-epidemiology.html

  The epidemiology segment also provides the Chiari Malformation epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. […] What is the historical Chiari Malformation patient pool in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan? […] What would be the forecasted patient pool of Chiari Malformation in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan? […] Out of all 7MM countries, which country would have the highest prevalent population of Chiari Malformation during the forecast period (2020-2034)?

• #2 Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

  https://www.mdpi.com/2076-3425/13/12/1658

  A substantial amount of research has been directed towards understanding the connections between syringomyelia and other diseases. However, there is a noticeable deficit in exhaustive and unbiased accounts of the research progress of syringomyelia. The present study endeavored to perform a bibliometric analysis to bridge this gap, charting the research trajectory of syringomyelia and identifying emergent themes over the past two decades.

• #2 Chiari Malformation and Syringomyelia, a pediatric clinical case review and discussion

  https://pediatriceducation.org/2025/04/21/what-symptoms-are-associated-with-syringomyelia-and-chiari-1-malformations/

  These children did need to be followed as there was about a 5% risk of needing surgery in the future. […] Children with CM1 with and without Syr who were significantly symptomatic were small in number and overall if they underwent surgery did well. […] Syr with an identifiable cause should have that cause addressed. […] Syr without CM1 was rare but generally these patient seemed to do well overtime without conservative management. […] Holste KG, Muraszko KM, Maher CO. Epidemiology of Chiari I Malformation and Syringomyelia. Neurosurgery Clinics of North America. 2023;34(1):9-15. doi:10.1016/j.nec.2022.08.001

• #3 Epidemiology of Chiari Malformations in Children – ISPN Guide

  https://ispn.guide/congenital-disorders-of-the-nervous-system-in-children/chiari-malformations-in-children-homepage/epidemiology-of-chiari-malformations-in-children/

  Prevalence estimated at less than 1%: There are no population-based studies on the incidence or prevalence of Chiari malformations. From clinical series, prevalence has been estimated between 0.1 and 0.5%, but it is possible that higher rates could have resulted from more widespread recent use of MRI. Another study estimated a prevalence of 0.77% based on the total population of patients undergoing MRI of the head at a tertiary care center over a period of 3.5 years. Of these patients, 14% were clinically asymptomatic. […] 3.6% prevalence for radiographic Chiari I: In a pediatric study in which an 11-year brain MRI database of 14,116 children was studied, 509 patients (3.6%) met radiologic criteria for Chiari I malformation, with a mean tonsillar descent below the foramen magnum of 10.2 mm. Compared to previous work, this study comprised a much higher percentage of asymptomatic patients.

Zobacz więcej