Skip to main content
SpringerLink
Log in

Embryology and Pathophysiology of the Chiari I and II Malformations

  • Chapter
  • First Online:
The Chiari Malformations

Abstract

Hindbrain herniation is only one component of the Chiari malformations. These malformations often have other associated intracranial anomalies and malformations of the vertebral column. Depending on embryologic timing, herniation of the cerebellar vermis or tonsils occurs. Additionally, the herniated hindbrain may include the medulla oblongata and fourth ventricle. Currently, no single theory explains all of the malformations seen in the Chiari I and II malformations. These pathologic derailments seem to result from a heterogeneous spectrum of ontogenetic errors and pathological mechanisms, which share some common phenotypical presentations. In this chapter, the theories pertinent to the embryology and pathophysiology of Chiari I and II malformations and their associated anomalies are discussed.

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

Access this chapter

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 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover 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

Institutional subscriptions

References

  1. Padget DH. Development of so-called dysraphism; with embryologic evidence of clinical Arnold-Chiari and Dandy-Walker malformations. Johns Hopkins Med J. 1972;130(3):127–65.

    CAS  PubMed  Google Scholar 

  2. Ingraham FD, Scott HW. Spina bifida and cranium bifidum V. The Arnold-Chiari malformation: a study of 20 cases. N Engl J Med. 1943;229:108–14.

    Article  Google Scholar 

  3. Anegawa S, Hayashi T, Torigoe R, Hashimoto T. Meningomyelocele associated with cranium bifidum: rare coexistence of two major malformations. Childs Nerv Syst. 1993;9(5):278–81.

    Article  CAS  PubMed  Google Scholar 

  4. Peach B. Arnold-Chiari malformation: anatomic features of 20 cases. Arch Neurol. 1965;12:613–21.

    Article  CAS  PubMed  Google Scholar 

  5. Schady W, Metcalfe RA, Butler P. The incidence of craniocervical bony anomalies in the adult Chiari malformation. J Neurol Sci. 1987;82(1–3):193–203.

    Article  CAS  PubMed  Google Scholar 

  6. Smoker WR. Craniovertebral junction: normal anatomy, craniometry, and congenital anomalies. Radiographics. 1994;14(2):255–77.

    Article  CAS  PubMed  Google Scholar 

  7. Muhleman M, Charran O, Matusz P, Shoja MM, Tubbs RS, Loukas M. The proatlas: a comprehensive review with clinical implications. Childs Nerv Syst. 2012;28(3):349–56.

    Article  PubMed  Google Scholar 

  8. Menezes AH. Primary craniovertebral anomalies and the hindbrain herniation syndrome (Chiari I): data base analysis. Pediatr Neurosurg. 1995;23(5):260–9.

    Article  CAS  PubMed  Google Scholar 

  9. Tubbs RS, Beckman J, Naftel RP, Chern JJ, Wellons JC 3rd, Rozzelle CJ, Blount JP, Oakes WJ. Institutional experience with 500 cases of surgically treated pediatric Chiari malformation type I. J Neurosurg Pediatr. 2011;7(3):248–56.

    Article  PubMed  Google Scholar 

  10. Pooh RK, Pooh KH. Fetal central nervous system. In: Kurjak A, Chervenak FA, editors. Donald school textbook of ultrasound in obstetrics & gynecology. 3rd ed. New Delhi: Jypee; 2011. p. 233–76.

    Chapter  Google Scholar 

  11. Russell DS, Donald C. The mechanism of internal hydrocephalus in spina bifida. Brain. 1935;58:203–15.

    Article  Google Scholar 

  12. Gardner WJ. The dysraphic states. Amsterdam: Excerpta Medica; 1973.

    Google Scholar 

  13. Tubbs RS, Dockery SE, Salter G, Elton S, Blount JP, Grabb PA, Oakes WJ. Absence of the falx cerebelli in a Chiari II malformation. Clin Anat. 2002;15(3):193–5.

    Article  PubMed  Google Scholar 

  14. Gilbert JN, Jones KL, Rorke LB, Chernoff GF, James HE. Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects. Neurosurgery. 1986;18(5):559–64.

    Article  CAS  PubMed  Google Scholar 

  15. Gardner WJ. Hydrodynamic factors in Dandy-Walker and Arnold-Chiari malformations. Childs Brain. 1977;3(4):200–12.

    CAS  PubMed  Google Scholar 

  16. Naidich TP, Pudlowski RM, Naidich JB. Computed tomographic signs of the Chiari II malformation. III: Ventricles and cisterns. Radiology. 1980;134(3):657–63.

    Article  CAS  PubMed  Google Scholar 

  17. Masters CL. Pathogenesis of the Arnold-Chiari malformation: the significance of hydrocephalus and aqueduct stenosis. J Neuropathol Exp Neurol. 1978;37(1):56–74.

    Article  CAS  PubMed  Google Scholar 

  18. Lichtenstein BW. Distant neuroanatomic complications of spina bifida (spinal dysraphism). Arch Neurol Psychiatr. 1942;47:195–214.

    Article  Google Scholar 

  19. Gardner WJ. Hydrodynamic mechanism of syringomyelia: its relationship to myelocele. J Neurol Neurosurg Psychiatry. 1965;28:247–59.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Tubbs RS, Smyth MD, Wellons JC 3rd, Oakes WJ. Arachnoid veils and the Chiari I malformation. J Neurosurg. 2004;100(5 Suppl Pediatrics):465–7.

    PubMed  Google Scholar 

  21. Barry A, Patten BM, Stewart BH. Possible factors in the development of the Arnold-Chiari malformation. J Neurosurg. 1957;14(3):285–301.

    Article  CAS  PubMed  Google Scholar 

  22. Josef V, Fehlings MG. Chiari malformations and syringomyelia. In: Goel A, Cacciola F, editors. The craniovertebral junction: diagnosis, pathology, surgical techniques. New York: Thieme; 2011.

    Google Scholar 

  23. Tubbs RS, Shoja MM, Ardalan MR, Shokouhi G, Loukas M. Hindbrain herniation: a review of embryological theories. Ital J Anat Embryol. 2008;113(1):37–46.

    PubMed  Google Scholar 

  24. Bell JE, Gordon A, Maloney AF. The association of hydrocephalus and Arnold-Chiari malformation with spina bifida in the fetus. Neuropathol Appl Neurobiol. 1980;6(1):29–39.

    Article  CAS  PubMed  Google Scholar 

  25. Radkowski MA. (translator). Concerning alterations in the cerebellum resulting from cerebral hydrocephalus, 1891 by Hans Chiari [original article in German]. Pediatr Neurosci. 1987;13(1):3–8.

    Article  Google Scholar 

  26. Koehler PJ, Greenblatt SH. The Chiari malformation. In: Koehler PJ, Bruyn GW, Pearce JMS, editors. Neurological eponyms. New York: Oxford University Press; 2000. p. 277–82.

    Google Scholar 

  27. Stein SC, Schut L. Hydrocephalus in myelomeningocele. Childs Brain. 1979;5(4):413–9.

    CAS  PubMed  Google Scholar 

  28. Caviness VS. The Chiari malformations of the posterior fossa and their relation to hydrocephalus. Dev Med Child Neurol. 1976;18(1):103–16.

    Article  CAS  PubMed  Google Scholar 

  29. Williams H. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida. Cerebrospinal Fluid Res. 2008;5:7.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Gardner WJ, Abdullah AF, McCormack LJ. The varying expressions of embryonal atresia of the fourth ventricle in adults: Arnold-Chiari malformation, Dandy-Walker syndrome, arachnoid cyst of the cerebellum, and syringomyelia. J Neurosurg. 1957;14(6):591–605.

    Article  CAS  PubMed  Google Scholar 

  31. Pollay M. The function and structure of the cerebrospinal fluid outflow system. Cerebrospinal Fluid Res. 2010;7:9.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Penfield W, Cone W. Spina bifida and cranium bifidum: results of plastic repair of meningocele and myelomeningocele by a new method. JAMA. 1932;93:454–61.

    Article  Google Scholar 

  33. Oldfield EH, Muraszko K, Shawker TH, Patronas NJ. Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils. Implications for diagnosis and treatment. J Neurosurg. 1994;80(1):3–15.

    Article  CAS  PubMed  Google Scholar 

  34. Cameron AH. The Arnold-Chiari malformation and other neuro-anatomical malformations associated with spina bifida. J Pathol Bacteriol. 1957;73:195–211.

    Article  Google Scholar 

  35. Peach B. The arnold-chiari malformation; morphogenesis. Arch Neurol. 1965;12:527–35.

    Article  CAS  PubMed  Google Scholar 

  36. Jacobs EB, Landing BH, Thomas W Jr. Vernicomyelia. Its bearing on theories of genesis of the Arnold-Chiari complex. Am J Pathol. 1961;39:345–53.

    CAS  PubMed  PubMed Central  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(1):40–7.

    Article  CAS  PubMed  Google Scholar 

  38. Weed LH. The development of the cerebrospinal spaces in pig and in man. Contrib Embryol. 1917;5:1–116.

    Google Scholar 

  39. Padget DH. The development of the cranial venous system in man, from the viewpoint of comparative anatomy. Contrib Embryol. 1957;36:79–104.

    Google Scholar 

  40. Bering EA Jr. Choroid plexus and arterial pulsations of cerebrospinal fluid: demonstration of the choroid plexus as a cerebrospinal fluid pump. AMA Arch Neurol Psychiatry. 1955;73:165–72.

    Article  PubMed  Google Scholar 

  41. Marin-Padilla M, Marin-Padilla TM. Morphogenesis of experimentally induced Arnold – Chiari malformation. J Neurol Sci. 1981;50(1):29–55.

    Article  CAS  PubMed  Google Scholar 

  42. D’Addario V, Pinto V, Del Bianco A, Di Naro E, Tartagni M, Miniello G, Serio G. The clivus-supraocciput angle: a useful measurement to evaluate the shape and size of the fetal posterior fossa and to diagnose Chiari II malformation. Ultrasound Obstet Gynecol. 2001;18(2):146–9.

    Article  PubMed  Google Scholar 

  43. Patten BM. Overgrowth of the neural tube in young human embryos. Anat Rec. 1952;113(4):381–93.

    Article  CAS  PubMed  Google Scholar 

  44. Patten BM. Embryological stages in the establishing of myeloschisis with spina bifida. Am J Anat. 1953;93(3):365–95.

    Article  CAS  PubMed  Google Scholar 

  45. Hung CF. The relationship between hydrocephalus and Chiari type II malformation in the experimental rat fetuses with Arnold-Chiari malformation. Proc Natl Sci Counc Repub China B. 1986;10(2):118–26.

    CAS  PubMed  Google Scholar 

  46. Bergquist H. Experiments on the ‘overgrowth’ phenomenon in the brain of chick embryos. J Embryol Exp Morphol. 1959;7:122–7.

    CAS  PubMed  Google Scholar 

  47. Kallen B. Errors in the differentiation of the central nervous system. In: Vinken PJ, Bruyn GW, Klawans HL, editors. Handbook of clinical neurology – volume 50 of current clinical practice: malformations. Amsterdam: Elsevier; 1987. p. 19–48.

    Google Scholar 

  48. Jelinek R. A report to the so-called “overgrowth” of the neural tube [Czech]. Cesk Morfologie. 1961;9:151–61.

    Google Scholar 

  49. Vogan KJ, Epstein DJ, Trasler DG, Gros P. The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene. Genomics. 1993;17(2):364–9.

    Article  CAS  PubMed  Google Scholar 

  50. Moase CE, Trasler DG. Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans. J Med Genet. 1992;29(3):145–51.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. O’Shea KS, Liu LH. Basal lamina and extracellular matrix alterations in the caudal neural tube of the delayed splotch embryo. Brain Res. 1987;465(1–2):11–20.

    Article  PubMed  Google Scholar 

  52. Yang XM, Trasler DG. Abnormalities of neural tube formation in pre-spina bifida splotch-delayed mouse embryos. Teratology. 1991;43(6):643–57.

    Article  CAS  PubMed  Google Scholar 

  53. Ahlgren S, Vogt P, Bronner-Fraser M. Excess FoxG1 causes overgrowth of the neural tube. J Neurobiol. 2003;57(3):337–49.

    Article  CAS  PubMed  Google Scholar 

  54. Penfield W, Coburn DF. Arnold-Chiari malformation and its operative treatment. Arch Neurol Psychiatr. 1938;40:328–36.

    Article  Google Scholar 

  55. Tubbs RS, Loukas M, Shoja MM, Oakes WJ. Observations at the craniocervical junction with simultaneous caudal traction of the spinal cord. Childs Nerv Syst. 2007;23(4):367–9.

    Article  PubMed  Google Scholar 

  56. Daniel PM, Strich S. Some observations on congenital deformity of central nervous system known as Arnold-Chiari malformation. J Neuropath Exp Neurol. 1958;17:255–66.

    Article  CAS  PubMed  Google Scholar 

  57. Lang J. Skull base and related structures: atlas of clinical anatomy. 2nd ed. Stuttgart: Schattauer; 2001.

    Google Scholar 

  58. van Hoytema GJ, van den Berg R. Embryological studies of the posterior fossa in connection with Arnold-Chiari malformation. Dev Med Child Neurol. 1966;Suppl 11:61–76.

    Google Scholar 

  59. McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci. 1989;15(1):1–12.

    Article  CAS  PubMed  Google Scholar 

  60. McLone DG. The Chiari II malformation of the hindbrain and the associated hydromyelia. In: Anson JA, Benzel EC, Awad IA, editors. Syringomyelia and the Chiari malformations. Park Ridge: The American Association of Neurological Surgeons; 1997. p. 69–82.

    Google Scholar 

  61. Corti G, Manzur T, Nagle C, Martinez-Ferro M. Etiopathology of Arnold-Chiari malformation: a fetal rat model of dysraphism. Fetal Diagn Ther. 2010;28(1):28–33.

    Article  CAS  PubMed  Google Scholar 

  62. Roth M. Cranio-cervical growth collision: another explanation of the Arnold-Chiari malformation and of basilar impression. Neuroradiology. 1986;28(3):187–94.

    Article  CAS  PubMed  Google Scholar 

  63. Williams B. On the pathogenesis of syringomyelia: a review. J R Soc Med. 1980;73(11):798–806.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  64. Williams B. Syringomyelia. Neurosurg Clin N Am. 1990;1(3):653–85.

    Article  CAS  PubMed  Google Scholar 

  65. Stovner LJ, Rinck P. Syringomyelia in Chiari malformation: relation to extent of cerebellar tissue herniation. Neurosurgery. 1992;31(5):913–7.

    Article  CAS  PubMed  Google Scholar 

  66. du Boulay GH. Pulsatile movements in the CSF pathways. Br J Radiol. 1966;39(460):255–62.

    Article  PubMed  Google Scholar 

  67. du Boulay G, O’Connell J, Currie J, Bostick T, Verity P. Further investigations on pulsatile movements in the cerebrospinal fluid pathways. Acta Radiol Diagn (Stockh). 1972;13:496–523.

    Article  Google Scholar 

  68. Tubbs RS, Griessenauer CJ, Hendrix P, Oakes P, Loukas M, Chern JJ, Rozzelle CJ, Oakes WJ. Relationship between pharyngitis and peri-odontoid pannus: a new etiology for some Chiari I malformations? Clin Anat. 2015;28(5):602–7.

    Article  PubMed  Google Scholar 

  69. Bell C. The nervous system of the human body: embracing the papers delivered to the Royal Society on the subject of the nerves. London: Longman, Rees, Orme, Brown, and Green; 1830.

    Google Scholar 

  70. Parke WW, Rothman RH, Brown MD. The pharyngovertebral veins: an anatomical rationale for Grisel’s syndrome. J Bone Joint Surg Am. 1984;66:568–74.

    Article  CAS  PubMed  Google Scholar 

  71. Battiata AP, Pazos G. Grisel’s syndrome: the two-hit hypothesis–a case report and literature review. Ear Nose Throat J. 2004;83(8):553–5.

    Article  PubMed  Google Scholar 

  72. Tubbs RS, Wellons JC 3rd, Blount JP, Grabb PA, Oakes WJ. Inclination of the odontoid process in the pediatric Chiari I malformation. J Neurosurg. 2003;98:43–9.

    Article  PubMed  Google Scholar 

  73. Shokouhi G, Naghili B. Spontaneous resolution of acquired tonsillar herniation caused by isolated cerebellar tonsil inflammation: case report. Neurosurgery. 2005;56(5):E1158.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of General Surgery, Tabriz University of Medical Sciences, Tabriz, Iran

    Mohammadali M. Shoja

  2. University of Illinois at Chicago, Metropolitan Group Hospitals, Chicago, IL, USA

    Mohammadali M. Shoja

  3. Department of Neurosurgery, Tulane University School of Medicine, New Orleans, LA, USA

    R. Shane Tubbs

  4. Department of Neurosurgery and Ochsner Neuroscience Institute, Ochsner Health System, New Orleans, LA, USA

    R. Shane Tubbs

  5. Departments of Neurosurgery and Pediatrics, University of Alabama, Birmingham, AL, USA

    W. Jerry Oakes

Authors
  1. Mohammadali M. Shoja
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Shane Tubbs
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. Jerry Oakes
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Neurosurgery, Tulane University School of Medicine, New Orleans, LA, USA

    R. Shane Tubbs

  2. Department of Neurosurgery, Aydın Adnan Menderes University School of Medicine, Efeler, Aydın, Turkey

    Mehmet Turgut

  3. Departments of Neurosurgery and Pediatrics, University of Alabama, Birmingham, AL, USA

    W. Jerry Oakes

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Shoja, M.M., Tubbs, R.S., Oakes, W.J. (2020). Embryology and Pathophysiology of the Chiari I and II Malformations. In: Tubbs, R., Turgut, M., Oakes, W. (eds) The Chiari Malformations. Springer, Cham. https://doi.org/10.1007/978-3-030-44862-2_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-44862-2_5

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-44861-5

  • Online ISBN: 978-3-030-44862-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation