Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Overview

Journal J Clin Med

Specialty General Medicine

Date 2023 Oct 28

PMID 37892831

Authors

Raquel Rodriguez-Blanque

Cristina Almazan-Soto

Beatriz Piqueras-Sola

Juan Carlos Sanchez-Garcia

Andres Reinoso-Cobo

Maria Jose Menor-Rodriguez

Jonathan Cortes-Martin

Affiliations

Soon will be listed here.

Abstract

Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa.

Citing Articles

Chiari Malformation as a Differential Diagnosis of Recurrent Syncope.

Figueiredo F, Valido T, Bastos M, Chumbo C, Oliveira J, Paulo J Eur J Case Rep Intern Med. 2025; 12(2):005136.

PMID: 39926566 PMC: 11801505. DOI: 10.12890/2025_005136.

Radiometric and Morphologic Analysis of Arnold Chiari Type-I Malformation and Idiopathic Syringomyelia: A Case Series from Pakistan.

Khan M, Kaleem M, Qadri H, Manzoor H, Shoaib M Pak J Med Sci. 2024; 40(12PINS Suppl):S69-S74.

PMID: 39703969 PMC: 11654646. DOI: 10.12669/pjms.40.12(PINS).11095.

The Benefits of Cognitive Therapeutic Exercise in Symptomatic Arnold-Chiari Syndrome Type I: A Case Report on Gait, Balance, and Pain Management.

Tisano A, Alito A, Ragonese de Gregorio R, Campo A, Santoro G, Milardi D J Clin Med. 2024; 13(18).

PMID: 39336989 PMC: 11432229. DOI: 10.3390/jcm13185502.

References

Deleu T, Jansen K, Van Calenbergh F . Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia. Surg Neurol Int. 2022; 13:211. PMC: 9168292. DOI: 10.25259/SNI_1016_2021. View

Ciaramitaro P, Garbossa D, Peretta P, Piatelli G, Massimi L, Valentini L . Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort. Ann Ist Super Sanita. 2020; 56(1):48-58. DOI: 10.4415/ANN_20_01_08. View

Carrillo-Esper R, Vazquez-Elizondo G, Gutierrez-Delgado L, Guevara-Arnal L, Mendez-Sanchez N . [Type 1 Arnold Chiari malformation, syringomielia, syringobulbia and IV ventricle entrapment]. Gac Med Mex. 2008; 144(4):351-4. View

Rangari K, Das K, Singh S, Kumar K, Bhaisora K, Sardhara J . Type I Chiari Malformation Without Concomitant Bony Instability: Assessment of Different Surgical Procedures and Outcomes in 73 Patients. Neurospine. 2021; 18(1):126-138. PMC: 8021815. DOI: 10.14245/ns.2040438.219. View

Gabr M, Elmataeshy M, Abdullah A . Chiari Type III : Experience of Outcome for 15 Cases. J Korean Neurosurg Soc. 2022; 65(6):841-845. PMC: 9666243. DOI: 10.3340/jkns.2021.0234. View

Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M . Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. Hum Genet. 2020; 140(4):625-647. PMC: 7981314. DOI: 10.1007/s00439-020-02231-6. View

Lazaro E, Garcia M, Ibarrola A, Amayra I, Lopez-Paz J, Martinez O . Chiari Type I Malformation Associated With Verbal Fluency Impairment. J Speech Lang Hear Res. 2018; 61(10):2458-2466. DOI: 10.1044/2018_JSLHR-S-17-0465. View

Sahuquillo J, Poca M . [Current surgical treatment of Chiari type I malformation and Chiari I-syringomyelia complex]. Neurologia. 1998; 13(5):223-45. View

Heffez D, Broderick J, Connor M, Mitchell M, Galezowska J, Golchini R . Is there a relationship between the extent of tonsillar ectopia and the severity of the clinical Chiari syndrome?. Acta Neurochir (Wien). 2019; 162(7):1531-1538. DOI: 10.1007/s00701-019-04171-1. View

10.

Pearce J . Arnold chiari, or "Cruveilhier cleland Chiari" malformation. J Neurol Neurosurg Psychiatry. 1999; 68(1):13. PMC: 1760604. View

11.

Musolf A, Ho W, Long K, Zhuang Z, Argersinger D, Sun H . Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing. Eur J Hum Genet. 2019; 27(10):1599-1610. PMC: 6777520. DOI: 10.1038/s41431-019-0457-7. View

12.

Chu E, Trager R, Ng G, Shum J . Neck pain and Headache Complicated by Persistent Syringomyelia After Foramen Magnum Decompression for Chiari I Malformation: Improvement with Multimodal Chiropractic Therapies. Am J Case Rep. 2022; 23:e937826. PMC: 9634848. DOI: 10.12659/AJCR.937826. View

13.

Fernandes Y, Ramina R, Campos-Herrera C, Borges G . Evolutionary hypothesis for Chiari type I malformation. Med Hypotheses. 2013; 81(4):715-9. DOI: 10.1016/j.mehy.2013.07.035. View

14.

Aydin S, Ozoner B . Comparative Volumetric Analysis of the Brain and Cerebrospinal Fluid in Chiari Type I Malformation Patients: A Morphological Study. Brain Sci. 2019; 9(10). PMC: 6826836. DOI: 10.3390/brainsci9100260. View

15.

Di Rocco F, Licci M, Garde A, Mottolese C, Thauvin-Robinet C, Chevarin M . Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism. Eur J Med Genet. 2022; 66(2):104678. DOI: 10.1016/j.ejmg.2022.104678. View

16.

Martinez-Gil N, Mellibovsky L, Manzano-Lopez Gonzalez D, Patino J, Cozar M, Rabionet R . On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone Rep. 2022; 16:101181. PMC: 8933671. DOI: 10.1016/j.bonr.2022.101181. View

17.

Florou C, Andreanos K, Georgakoulias N, Espinosa E, Papakonstantinou E, Georgalas I . Acute Visual Loss Secondary to Arnold Chiari Type I Malformation Completely Resolving After Decompressive Posterior Fossa Surgery. Int Med Case Rep J. 2020; 13:657-661. PMC: 7680680. DOI: 10.2147/IMCRJ.S253883. View

18.

Urbizu A, Garrett M, Soldano K, Drechsel O, Loth D, Marce-Grau A . Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PLoS One. 2021; 16(5):e0251289. PMC: 8112708. DOI: 10.1371/journal.pone.0251289. View

19.

Garcia M, Amayra I, Lazaro E, Lopez-Paz J, Martinez O, Perez M . Comparison between decompressed and non-decompressed Chiari Malformation type I patients: A neuropsychological study. Neuropsychologia. 2018; 121:135-143. DOI: 10.1016/j.neuropsychologia.2018.11.002. View

20.

Ciaramitaro P, Rota E, Ferraris M, Stura I, Migliaretti G, Cocito D . Migraine in Chiari 1 Malformation: a cross-sectional, single centre study. Acta Neurol Belg. 2021; 122(4):947-954. DOI: 10.1007/s13760-021-01716-z. View