Skip to main content
SpringerLink
Log in
Book cover

The Chiari Malformations pp 83–92Cite as

Epidemiology of the Chiari I Malformation

  • Chapter
  • First Online:

Abstract

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 0.01–0.04 % of adults demonstrate symptoms and MRI evidence of CM1. Symptoms of CM1 usually accompany tonsillar ectopia over 12 mm, a narrow CSF space posterior to the cerebellar tonsils, and molded cerebellar tonsils. In CM1, reduced bony development of the posterior fossa creates morphologic changes in the cerebellum and medulla. 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. 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.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   239.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Epidemiology. In: Stevenson A, editor. Oxford dictionaries online. Oxford: Oxford University Press; 2012. http://oxforddictionaries.com/definition/english/epidemiology?q=epidemiology. Accessed 12 Feb 2012.

  2. Disease. In: Stevenson A, editor. Oxford dictionaries online. Oxford: Oxford University Press; 2012. http://oxforddictionaries.com/definition/english/disease?q=disease. Accessed 12 Feb 2012.

  3. Merrill RM. Introduction to epidemiology. 5th ed. Sudbury: Jones and Bartlett Publishers; 2010.

    Google Scholar 

  4. Posada de la Paz M, Villaverde-Hueso A, Alonso V, et al. Rare diseases epidemiology research. In: Posada de la Paz M, Groft SC, editors. Rare diseases epidemiology. Dordrecht: Springer Science+Business Media B.V.; 2010. p. 17–39.

    Chapter  Google Scholar 

  5. Chiari malformation type 1. Office of Rare Diseases Research, National Institutes of Health. 2012. Accessed at http://rarediseases.info.nih.gov/GARD/Condition/9230/Chiari_malformation_type_1.aspx. Accessed 28 Feb 2012.

  6. Rare diseases and related terms. Office of Rare Diseases Research, National Institutes of Health. 2012. Accessed at http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1. Accessed 28 Feb 2012.

  7. Groft SC, Posada de la Paz M. Rare diseases – avoiding misperceptions and establishing realities: the need for reliable epidemiological data. In: Posada de la Paz M, Groft SC, editors. Rare diseases epidemiology. Dordrecht: Springer Science+Business Media B.V.; 2010. p. 3–13.

    Chapter  Google Scholar 

  8. Pillay PK, Awad IA, Little JR, Hahn JF. Surgical management of syringomyelia: a five year experience in the era of magnetic resonance imaging. Neurol Res. 1991;13:3–9.

    PubMed  CAS  Google Scholar 

  9. Aitken LA, Lindan CE, Sidney S, et al. Chiari type I malformation in a pediatric population. Pediatr Neurol. 2009;40:449–54.

    Article  PubMed  Google Scholar 

  10. Mikulis DJ, Diaz O, Egglin TK, Sanchez R. Variance of the position of the cerebellar tonsils with age: preliminary report. Radiology. 1992;183:725–8.

    PubMed  CAS  Google Scholar 

  11. Barkovich AJ, Wippold FJ, Sherman JL, Citrin CM. Significance of cerebellar tonsillar position on MR. AJNR Am J Neuroradiol. 1986;7:795–9.

    PubMed  CAS  Google Scholar 

  12. Vernooij MW, Ikram MA, Tanghe HL, et al. Incidental findings on brain MRI in the general population. N Engl J Med. 2007;357:1821–8.

    Article  PubMed  CAS  Google Scholar 

  13. Meadows J, Kraut M, Guarnieri M, Haroun RI, Carson BS. Asymptomatic Chiari type I malformations identified on magnetic resonance imaging. J Neurosurg. 2000;92:920–6.

    Article  PubMed  CAS  Google Scholar 

  14. Elster AD, Chen MY. Chiari I malformations: clinical and radiologic reappraisal. Radiology. 1992;183:347–53.

    PubMed  CAS  Google Scholar 

  15. Milhorat TH, Chou MW, Trinidad EM, et al. Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery. 1999;44:1005–17.

    Article  PubMed  CAS  Google Scholar 

  16. Brewis M, Poskanzer DC, Rolland C, Miller H. Neurological disease in an English city. Acta Neurol Scand. 1966;S24:1–89.

    Google Scholar 

  17. Klekamp J, Batzdorf U, Samii M, Bothe HW. The surgical treatment of Chiari I malformation. Acta Neurochir (Wien). 1996;138:788–801.

    Article  CAS  Google Scholar 

  18. Brickell KL, Anderson NE, Charleston AJ, Hope JK, Bok AP, Barber PA. Ethnic differences in syringomyelia in New Zealand. J Neurol Neurosurg Psychiatry. 2006;77:989–91.

    Article  PubMed  CAS  Google Scholar 

  19. Boman K, Iivanainen M. Prognosis of syringomyelia. Acta Neurol Scand. 1967;43:61–8.

    Article  PubMed  CAS  Google Scholar 

  20. Cavender RK, Schmidt 3rd JH. Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. J Neurosurg. 1995;82:497–500.

    Article  PubMed  CAS  Google Scholar 

  21. Fraga M, Ballestar E, Paz M, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA. 2005;102:10604–9.

    Article  PubMed  CAS  Google Scholar 

  22. Stovner LJ, Cappelen J, Nilsen G, Sjaastad O. The Chiari type I malformation in two monozygotic twins and first-degree relatives. Ann Neurol. 1992;31:220–2.

    Article  PubMed  CAS  Google Scholar 

  23. Atkinson JL, Kokmen E, Miller GM. Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: case report. Neurosurgery. 1998;42:401–3; discussion 4.

    Article  PubMed  CAS  Google Scholar 

  24. Tubbs RS, Wellons JC, Blount JP, Oakes WJ. Syringomyelia in twin brothers discordant for Chiari I malformation: case report. J Child Neurol. 2004;19:459–62.

    PubMed  Google Scholar 

  25. Turgut M. Chiari type I malformation in two monozygotic twins. Br J Neurosurg. 2001;15:279–80.

    Article  PubMed  CAS  Google Scholar 

  26. Iwasaki Y, Hida K, Onishi K, Nanba R. Chiari malformation and syringomyelia in monozygotic twins: birth injury as a possible cause of syringomyelia – case report. Neurol Med Chir (Tokyo). 2000;40:176–8.

    Article  CAS  Google Scholar 

  27. Hida K, Iwasaki Y, Imamura H, Abe H. Birth injury as a causative factor of syringomyelia with Chiari type I deformity. J Neurol Neurosurg Psychiatry. 1994;57:373–4.

    Article  PubMed  CAS  Google Scholar 

  28. Aghakhani N, Parker F, David P, et al. Long-term follow-up of Chiari-related syringomyelia in adults: analysis of 157 surgically treated cases. Neurosurgery. 2009;64:308–15; discussion 15.

    Article  PubMed  Google Scholar 

  29. Tubbs RS, McGirt MJ, Oakes WJ. Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg. 2003;99:291–6.

    Article  PubMed  Google Scholar 

  30. Williams B. Difficult labour as a cause of communicating syringomyelia. Lancet. 1977;2:51–3.

    Article  PubMed  CAS  Google Scholar 

  31. Wan MJ, Nomura H, Tator CH. Conversion to ­symptomatic Chiari I malformation after minor head or neck trauma. Neurosurgery. 2008;63:748–53; ­discussion 53.

    Article  PubMed  Google Scholar 

  32. Bogdanov EI, Mendelevich EG. Syrinx size and duration of symptoms predict the pace of progressive myelopathy: retrospective analysis of 103 unoperated cases with craniocervical junction malformations and syringomyelia. Clin Neurol Neurosurg. 2002;104:90–7.

    Article  PubMed  CAS  Google Scholar 

  33. Bogdanov EI, Heiss JD, Mendelevich EG. The post-syrinx syndrome: stable central myelopathy and collapsed or absent syrinx. J Neurol. 2006;253:707–13.

    Article  PubMed  CAS  Google Scholar 

  34. Bogdanov EI, Heiss JD, Mendelevich EG, Mikhaylov IM, Haass A. Clinical and neuroimaging features of “idiopathic” syringomyelia. Neurology. 2004;62:791–4.

    Article  PubMed  CAS  Google Scholar 

  35. Genetic analysis of the Chiari I malformation. 2000. http://clinicaltrials.gov/ct2/show/NCT00004738?term=chiari+AND+genetics&rank=2. Accessed 29 Feb 2012.

  36. Nyland H, Krogness KG. Size of posterior fossa in Chiari type 1 malformation in adults. Acta Neurochir (Wien). 1978;40:233–42.

    Article  CAS  Google Scholar 

  37. Nishikawa M, Sakamoto H, Hakuba A, Nakanishi N, Inoue Y. Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg. 1997;86:40–7.

    Article  PubMed  CAS  Google Scholar 

  38. Noudel R, Jovenin N, Eap C, Scherpereel B, Pierot L, Rousseaux P. Incidence of basioccipital hypoplasia in Chiari malformation type I: comparative morphometric study of the posterior cranial fossa. Clinical article. J Neurosurg. 2009;111:1046–52.

    Article  PubMed  Google Scholar 

  39. Leikola J, Koljonen V, Valanne L, Hukki J. The incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis. Childs Nerv Syst. 2010;26:771–4.

    Article  PubMed  Google Scholar 

  40. Harding BN, Copp AJ. Malformations. In: Graham DI, Lantos PL, editors. Greenfield’s neuropathology. 7th ed. London: Arnold; 2002. p. 357–483.

    Google Scholar 

  41. Decq P, Le Guerinel C, Sol JC, Brugieres P, Djindjian M, Nguyen JP. Chiari I malformation: a rare cause of noncommunicating hydrocephalus treated by third ventriculostomy. J Neurosurg. 2001;95:783–90.

    Article  PubMed  CAS  Google Scholar 

  42. Banik R, Lin D, Miller NR. Prevalence of Chiari I malformation and cerebellar ectopia in patients with pseudotumor cerebri. J Neurol Sci. 2006;247:71–5.

    Article  PubMed  Google Scholar 

  43. Kyoshima K, Kuroyanagi T, Oya F, Kamijo Y, El-Noamany H, Kobayashi S. Syringomyelia without hindbrain herniation: tight cisterna magna. Report of four cases and a review of the literature. J Neurosurg. 2002;96:239–49.

    PubMed  Google Scholar 

  44. Tubbs RS, Elton S, Grabb P, Dockery SE, Bartolucci AA, Oakes WJ. Analysis of the posterior fossa in children with the Chiari 0 malformation. Neurosurgery. 2001;48:1050–4; discussion 4–5.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, 10-3D20, MSC-1414, Bethesda, MD, 20892-1414, USA

    John D. Heiss MD

Authors
  1. John D. Heiss MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to John D. Heiss MD .

Editor information

Editors and Affiliations

  1. Children's Hospital of Alabama, 7th Ave S 1600, Birmingham, 35233-1711, Alabama, USA

    R. Shane Tubbs

  2. The Children's Hospital of Alabama, 7th Ave S 1600, Birmingham, 35233-1711, Alabama, USA

    W. Jerry Oakes

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media New York

About this chapter

Cite this chapter

Heiss, J.D. (2013). Epidemiology of the Chiari I Malformation. In: Tubbs, R., Oakes, W. (eds) The Chiari Malformations. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6369-6_6

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6369-6_6

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6368-9

  • Online ISBN: 978-1-4614-6369-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation