Materiały źródłowe

• #1 Syringomyelia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/29827

  The prevalence of CM-1 ranges from 3 to 8 per 100,000 individuals, with syringomyelia diagnosed in 65% of CM-1 patients. The reported prevalence of syringomyelia in the literature ranges from 8.4 per 100,000 to 0.9 per 10,000. A study in Italy reported a prevalence of 4.84 per 100,000 with an incidence of 0.82 per 100,000. Among Caucasians, the prevalence is reported as 5.4 per 100,000, while in Japan, it is 1.94 per 100,000. […] Approximately 22.7% of patients with syringomyelia are asymptomatic. In operative series from the United States and Europe, the peak ages of presentation for CM-1 were 8 in pediatric cases and 41 in adult cases. The incidence of syringomyelia in these studies was 65%. With the rise in radiological imaging, incidentalomas are increasingly being detected.

• #2 Syringomyelia: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1151685-overview

  Estimated prevalence of the disease is about 8.4 cases per 100,000 people and occurs more frequently in men than in women. […] The disease usually appears in the third or fourth decade of life, with a mean age of onset of 30 years. […] Rarely, syringomyelia may develop in childhood or late adulthood.

• #3 Syringomyelia | MedLink Neurology

  https://www.medlink.com/articles/syringomyelia

  Determining the prevalence of Chiari malformation and an associated spinal syrinx is challenging. The estimated prevalence of syringomyelia is between 1.94 per 100,000 in Japan and 8.4 per 100,000 in Western countries. […] Imaging studies estimate Chiari malformation prevalence to be between 0.24% and 3.6%. Of those diagnosed on imaging, symptomatic cases vary greatly from 32% to 63%. […] Proportional rates from several series range from 0.4% to 1% of cases admitted to neurologic clinics. An autosomal dominant predisposition may be the primary factor in the appearance of familiar cases. Males and females are equally affected. Incidence of posttraumatic syringomyelia is 0.02%.

• #4 Syringomyelia and Syringobulbia | Doctor

  https://patient.info/doctor/syringomyelia-and-syringobulbia

  There is a paucity of data on the prevalence of the condition in the West. The widely quoted prevalence of 8.4 per 100,000 derives from a small study of one UK city, published in 1966. More recent work in the USA aimed at quantifying prevalence suggests a prevalence of 7-70 per 100,000. The authors believe that their upper figure is almost certainly too high and their lower figure too low. In Japan the prevalence is quoted at only 1.9 per 100,000. […] Syringomyelia is more common in men than in women. […] Chiari I accounts for fewer than half of the cases. […] Trauma accounted for 7.5%. […] 16% had no known cause.

• #5 Epidemiology | Neupsy Key

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

  Prevalence (per 100,000 inhabitants) Geographical region Reference source 1.94 Japan Sakushima et al. (2012) 7 USA Kurtzke (1996) 8.2 New Zealand Brickell et al. (2006) 12.6 Tatarstan, Russia Authors data (2011) […] The recorded incidence and prevalence of syringomyelia have not been constant through time. Between 1949 and 1978, for example, in southwest Germany, recorded cases fell from 25 to less than 1 case per year, per 100,000 inhabitants (Hertel and Ricker 1978; Schergna and Armani 1985). […] In contrast, an epidemiological study in New Zealand found that the incidence of syringomyelia increased between 1961 and 2001, from 0.76 to 4.70 cases per year, per 100,000 population (Brickell et al. 2006). […] There are clear ethnic differences in the prevalence of syringomyelia and its associated conditions (Table 2.2), although the extent to which these variations are due to environmental influences, as opposed to genetic factors, remains unknown.

• #6 Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort – PubMed

  https://pubmed.ncbi.nlm.nih.gov/32242535/

  Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. […] We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms. […] 436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. […] First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.

• #7 :: JKSR :: Journal of the Korean Society of Radiology

  https://jksronline.org/DOIx.php?id=10.3348/jksr.2012.67.3.149

  We compared the detection rate of syringomyelia according to the type of magnetic resonance (MR) images among the Korean military conscription. […] The estimated prevalence of syringomyelia was approximately 10.0 cases per 100000 people. […] However, in the Korean conscription, the increasing tendency of syringomyelia detection was observed. […] The overall estimated prevalence of syringomyelia was 10.0 cases per 100000 people, but annually the prevalence was increased from 3.4 to 14.9 cases per 100000 people during the last 4 years. […] In this study, 24 syringomyelia cases regarding young males was reported and the overall estimated prevalence among young adults is 10.0 cases per 100000 persons. […] However, the annually prevalence increased as observed in this study. […] Moreover, this increase was statistically significantly correlated with the increased proportion of the type of WSST2I.

• #8 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). […] Most of the patients with syringomyelia tend to come from large families and originate from the second half of the birth order. […] 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).

• #9 Syringomyelia: A Complication of an Underlying Pathology | Walid | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/291/199

  Syringomyelia has a prevalence of 3.3 to 8.5/100,000 people with some ethnic variability. […] In the United States, syringomyelia is more common in African-Americans than in Caucasians. […] Syringomyelia can be viewed as a complication of an underlying pathology which may be a simple arachnoid cyst or a complex Chiari malformation.

• #10 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. […] 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.

• #11 :: JKSR :: Journal of the Korean Society of Radiology

  https://jksronline.org/DOIx.php?id=10.3348/jksr.2012.67.3.149

  WSST2I or more than 2 regional MR images encouraged the detection of incidental syringomyelia. […] In conclusion, in young Korean males, non-communicating benign hydromyelia is the most common type of syringomyelia. […] But, the detection rate of syringomyelia has increased with the use of WSST2I in Korean young males. […] WSST2I is useful for detecting coexisting syringomyelia in various spinal diseases.

• #12 Syringomyelia | PM&R KnowledgeNow

  https://now.aapmr.org/syringomyelia/

  Children and young adults are most commonly affected by syringomyelia. […] Historical studies showed an overall prevalence of 9 per 100,000; however, the widespread use of MRI has increased detection. The majority of cases occur between the ages of 20 to 50, with mean age of onset at 30 years. All cause syringomyelia occurs more often in men than women, reflecting the higher incidence of traumatic SCI in men. Syringomyelia in adults is associated with a Chiari I malformation in approximately 50% of cases, and is post-traumatic SCI or associated with arachnoiditis in an additional 25% of cases. […] Other, less common associations with syringomyelia include spinal cord tumors, transverse myelitis, and meningitis.

• #13 Syringomyelia: What It Is, Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/6126-syringomyelia

  Syringomyelia is rare. It affects approximately every 8 out of 100,000 people and accounts for up to 5% of paraplegia (paralysis of your legs and lower body) cases. […] The majority of people with syringomyelia are diagnosed between the ages of 20 and 50, but it can also develop in young children or older adults. […] While syringomyelia generally cant be prevented, early diagnosis and treatment may help prevent the worsening of symptoms.

• #14 Syringomyelia | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/syringomyelia

  Syringomyelia is the formation of a fluid-filled cyst (syrinx) within the spinal cord. […] The condition affects approximately eight out of every 100,000 people, and men are more at risk than women (for reasons unknown). […] There are broadly three types of syringomyelia. […] Treatment options include surgery.

• #15 Pediatric Syringomyelia | PM&R KnowledgeNow

  https://now.aapmr.org/pediatric-syringomyelia/

  Syringomyelia most commonly presents in young adults ages 20 to 40, although all ages may be affected. Estimates of prevalence vary between 1.94-8.4 per 100,000. Men and women are equally affected. […] Risk factors for developing syringomyelia include a family history of syringomyelia as well as specific factors related to predisposing conditions: […] CM-I is commonly associated with spinal cord syrinx. An estimated 12-22.9% of pediatric patients with CM-I also have a syrinx. […] The presence of syringomyelia in patients with myelomeningocele varies from 25 to 45%. […] The incidence of post-traumatic syringomyelia ranges from 1 to 7% in patients with clinical symptoms and is as high as 50% on imaging studies. […] Syrinx occurs in 25 to 58% of patients with intramedullary spinal cord tumors and are typically seen in the lower cervical and upper thoracic regions.

• #16 Posttraumatic Syringomyelia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27569

  PTS is a relatively common yet often underdiagnosed complication of SCI, affecting approximately 3% to 9% of patients with a history of spinal trauma. […] However, radiological studies suggest that the prevalence may be as high as 30% over 30 years of follow-up, particularly as advanced imaging techniques such as magnetic resonance imaging improve detection rates. […] The incidence tends to be higher in studies with longer follow-ups, as patients now survive longer after spinal cord injuries due to advancements in acute and rehabilitative care. […] PTS is more frequently observed in individuals with complete or high-grade incomplete spinal cord injuries, particularly those classified as ASIA 'A’ neurological status, who are at the highest risk of developing syrinx formation. […] The thoracic spine is the most commonly affected region, likely due to its relatively rigid structure and vulnerability to traumatic forces, though cervical syrinxes are also prevalent.

• #17 Posttraumatic Syringomyelia: Pathophysiology and Management | Musculoskeletal Key

  https://musculoskeletalkey.com/posttraumatic-syringomyelia-pathophysiology-and-management/

  Radiographic and postmortem detection of syringomyelia occurs in up to 30% of patients with spinal cord trauma, with series variation based on the extent and pattern of injury. […] Clinical presentation from such lesions occurs in fewer than 10% of the SCI population, most frequently in men, correlating with the trends in injury incidence. […] In a prospective longitudinal study of 449 SCI patients, Schurch and coworkers observed the development of symptomatic syringomyelia in 4.5% of patients over 6 years. […] Vannemreddy and coworkers retrospectively reviewed factors predisposing to the development of PTS in a series of 58 symptomatic patients. […] They found that onset of symptomatic PTS occurred earlier among patients with more advanced age, cervical or thoracic-level injuries, complete neurological injury at the index level, and fracture-dislocations, especially if patients underwent surgery for deformity correction and stabilization.

• #18 Spinal cord tethering and syringomyelia after trauma: impact of age and surgical outcome | Scientific Reports

  https://www.nature.com/articles/s41598-023-38565-0

  Posttraumatic spinal cord tethering and syringomyelia frequently lead to progressive neurological loss. […] Age (B-coefficient 0.396) and severity of trauma to the spinal cord (B-coefficient 0.462) have been identified as independent predictors for the rate of development of symptomatic spinal cord tethering and syringomyelia (p0.001). […] Conclusively, active screening for symptomatic spinal cord tethering and syringomyelia, particularly in younger patients with severe spinal trauma, is crucial as surgical untethering with/without shunting is able to achieve favourable clinical outcomes. […] Interestingly, only scarce information is available about demographic discriminators in SCI patients suffering from symptomatic spinal cord tethering and syringomyelia. […] As such, the results of our study corroborate with the existing literature and add further evidence favoring surgical strategies in patients suffering from symptomatic spinal cord tethering and syringomyelia after trauma. […] In particular, younger patients with a higher level of SCI are susceptible for a more rapid development of clinically relevant spinal cord tethering and syringomyelia as compared to older patients.

• #19 Holocord syringomyelia caused by tethered cord syndrome: case report and literature review | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03951-2

  Syringomyelia is a rare disease with diverse etiologies, and the syrinx is typically confined to certain segments of the spinal cord. […] While syringomyelia can manifest in any segment of the spinal cord, cases involving the entire spinal cord are relatively infrequent, particularly in association with tethered cord syndrome. […] The association between syringomyelia and tethered cord syndrome (TCS) has been documented extensively in the literature. […] A retrospective study conducted by Erkan involving 132 patients diagnosed with TCS revealed that 32 patients (24%) exhibited syringomyelia as assessed through MRI. […] Although rare, tethered cord syndrome can serve as the sole etiology for extensive syringomyelia. […] For such patients, performing un-tethering surgery can lead to complete resolution of the syrinx and achieve a satisfactory clinical outcome.

• #20 Orphanet: Syringomyelia

  https://www.orpha.net/en/disease/detail/3280

  A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis). […] Estimated prevalence is 8.4/100,000. Cases of autosomal recessive familial syringomyelia have been reported with an estimated incidence of 2% of all syringomyelia cases.

• #21 Pediatric Syringomyelia | PM&R KnowledgeNow

  https://now.aapmr.org/pediatric-syringomyelia/

  Familial syringomyelia is rare. Familial cases of both autosomal dominant and recessive inheritance patterns have been reported and are felt to be due to gene abnormalities in spinal cord development. […] The natural history of syringomyelia is variable and dependent on etiology. Some patients remain asymptomatic with syringomyelia found incidentally, while others present with progression in symptoms. Syringomyelia often remains stable with nonoperative treatment. […] Successful surgery for CM-I depends on early detection, which is facilitated by MRI. Studies show that a shorter duration of symptoms before decompression favorably influences clinical outcome. […] Patients with myelomeningocele who are asymptomatic with syringomyelia identified on imaging are likely to remain asymptomatic.

• #22 Familial syringomyelia: Incidental or hereditary? | 2025, Volume 31 – Issue 1 | Turkish Journal of Neurology

  https://tjn.org.tr/full-text/2148/eng

  Syringomyelia is a rare disease of the spinal cord, and its familial occurrence is even rarer. […] The prevalence of SM is up to 8.2 in 100,000; however, ascertaining the true incidence of idiopathic SM is difficult. […] Familial cases with or without CM1 have been reported even less frequently. […] The frequency of familial SM accounted for 2 to 4% of all observed cases of SM. […] Familial aggregation of SM suggests a genetic basis. […] Although descriptions of familial SM cases date back more than a century, cases described in the literature are rare. […] In our meticulous search of the literature, we identified 92 familial cases of SM. […] Environmental factors have also been implicated in the development of SM. […] A higher detection rate of SM in some geographical regions was also attributed to environmental factors. […] Despite the ease in confirmation of the diagnosis with the imaging of the spinal cord, the best treatment methods are still controversial. […] In conclusion, familial SM is a rare occurrence. […] Although seemingly rare, familial cases may be more common than the reported cases.

• #23 Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010168

  16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. […] The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. […] Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. […] Syringomyelia, which is commonly associated with Chiari type I malformation, is a highly heritable condition, as evidenced by familial aggregation, twin studies, and cosegregation with known genetic conditions. […] Our data demonstrate the dosage effect of 16p11.2 and suggest the presence of dose-sensitive genes within the rearranged interval that are important in the pathogenesis of syringomyelia.

• #24 Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010168

  The presence of these neurological findings in patients with 16p11.2 rearrangements should prompt clinicians to order spine imaging to rule out syringomyelia. […] Congenital malformations have been reported in 30-50% of patients with copy number variants of 16p11.2. […] Reports of congenital malformations associated with 16p11.2 rearrangements not only have implications for expanding the differential diagnosis but also for anticipatory guidance and establishment of surveillance guidelines for patients with these copy number variants. […] In conclusion, our data expand the spectrum of phenotypic abnormalities in patients with the 16p11.2 deletion or duplication and suggest candidate loci for spine malformations within the rearranged interval. […] Furthermore, more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in patients with copy number variants of 16p11.2 and to determine whether this association is causally related to this chromosomal rearrangement.

• #25 Syringomyelia complicating myelomeningocele: review of the evidence in: Journal of Neurosurgery: Pediatrics Volume 100 Issue 2 (2004) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/100/2/article-p101.xml

  Syringomyelia is frequently found in association with myelomeningocele. […] There are data concerning the imaging prevalence, the autopsy prevalence, and the prevalence of clinically active syringomyelia among patients with myelomeningocele, but literature provides no description of the course of this condition over time. […] There is no disagreement that magnetic resonance imaging is the diagnostic modality of choice, but the literature provides very little guidance about who should undergo this investigation. There is no analysis of the costs and benefits of screening or periodic surveillance. […] Prospective cohort studies are feasible, however, and hold the potential to address many important questions about natural history and patient outcomes.

• #26 Top Published Expert Doctors for Syringomyelia

  https://findexpertmd.com/d/Syringomyelia?physician=physician

  530 top medical experts on Syringomyelia across 54 countries and 37 U.S. states, including 441 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 10 including 1 Active, 8 Completed, 1 Recruiting.

• #27 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. […] Over the past twenty years, there has been a consistent upward trend in the publication of articles focusing on syringomyelia. Current research gravitates toward understanding the age at which the disease manifests, evaluating potential therapeutic strategies, the efficacy of surgical interventions, recurrence prevention, and pain delay.

• #28 Phenotypes and Prognostic Factors of Syringomyelia in Single-Center Patients With Chiari I Malformation: Moniliform Type as a Special Configuration

  https://www.e-neurospine.org/journal/view.php?year=2022&vol=19&no=3&startpage=816

  Timely decompression surgery could achieve a better outcome in CM-I patients with syringomyelia. […] The moniliform syringomyelia with representative syrinx separations may suggest a relatively better prognosis. […] The specific association between morphometric characteristics of the syrinx and the prognosis of Chiari malformation type I (CM-I) with syringomyelia following surgical procedure seems to have not been fully elaborated. […] In recent years, with the widespread use of magnetic resonance imaging (MRI), there was an increasing number of patients screened with syringomyelia. […] There have been numerous case series of pediatric and adult patients describing clinical presentation and prognosis following surgical procedure, with widely varying surgical outcomes. […] The morphometric characteristics of the syrinx in CM-I patients may contain different parameters, such as the size, length, configuration, and deviation of the syrinx, while the specific association between morphometric characteristics of syrinx with the prognosis seems to have not been elaborated.

• #29 Phenotypes and Prognostic Factors of Syringomyelia in Single-Center Patients With Chiari I Malformation: Moniliform Type as a Special Configuration

  https://www.e-neurospine.org/journal/view.php?year=2022&vol=19&no=3&startpage=816

  The effectiveness of syrinx resolution in patients with moniliform type was significantly higher than that with the nonmoniliform type (p0.001 by log-rank test) in the adult group. […] The most obvious difference between moniliform type and nonmoniliform type lies in the preoperative symptom duration (p=0.029), ventral SAS at the FM (p0.001), and the patients with straightened cervical physio-curve or not (p0.001).

• #30 Syringomyelia – wikidoc

  https://www.wikidoc.org/index.php/Syringomyelia

  Syringomyelia has a prevalence estimated at 8.4 cases per 100,000 people, or about 21,000 Americans, with symptoms usually beginning in young adulthood. […] More than 25% of patients with spinal cord injury progress to develop syringomyelia. […] There is no recommended screening for syringomyelia.

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