Child's Nervous System

, Volume 35, Issue 10, pp 1673–1679 | Cite as

Clinical diagnosis—part I: what is really caused by Chiari I

  • Palma CiaramitaroEmail author
  • Marilena Ferraris
  • Fulvio Massaro
  • Diego Garbossa
Special Annual Issue



Chiari malformation is a group of congenital malformations involving the brainstem, cerebellum, and upper spinal cord, frequently identified in both young adults and in children. Chiari I malformation (CM1), classically defined as a caudal displacement of the cerebellar tonsils through the foramen magnum into the spinal cord, is the most common clinical type. A syringomyelia can be associated at the time of the diagnosis or appear secondarily and manifest with medullary symptoms. The aim of this paper is to update the knowledge on clinical manifestations specifically related to Chiari I malformation with or without syringomyelia in the pediatric population.


Current literature with focus on relevant clinical pediatric issues is reviewed and discussed, comparing with those related to adults; we include the results of a 10-year single-center experience on 600 CM1 patients.

Results and conclusions

Herniation of the cerebellar tonsils may lead to significant clinical symptoms, including neck and cervical pain, short-lasting occipital “cough” headache, dizziness, and gait impairment; in children younger than 3 years, oropharyngeal symptoms are prevalent (sleep apnea, feeding problems) whereas in those older than 3 years, a higher incidence of cough headache and scoliosis is reported. CM1 clinical features, both in children and in adults, have in common the presence of anatomical deformities of the brainstem and cerebellum. Clinical myelopathy (sensory/autonomic disorders, motor weakness) can result from direct compression of the cervical spinal cord by the herniated cerebellar tonsils or can be due to the presence of a syrinx, reported in association with Chiari I between 35 and 75% of pediatric patients. Similarly, in our series (440 females, 160 males, 98% > 18 years), syringomyelia associated with Chiari I was ranging from 40 to 60% (respectively in asymptomatic and symptomatic groups); headache was reported in 65%. Sensory disturbances (48%), cranial nerve deficits (45%), motor weakness (32%), and autonomic disorders (35%) were the most frequent neurological signs in our cohort. In Chiari I malformation, cervical pain and occipital cough headache are the most characteristic presenting symptoms, both in old children and in adults; however, headache is often multifactorial, and CM1 patients can report a wide variety of non-specific symptoms and signs. Clinical diagnostic CM1 criteria, shared at the national and international level, are recommended with the aim to avoid consequent controversies on diagnosis and on surgical decision making.


Chiari I malformation Hindbrain hernia Clinical diagnosis Chiari syndrome Syringomyelia 



The authors acknowledge Adam Spielholz for his help with English grammar.

Compliance with ethical standards

Conflict of interest

There was no financial support nor industry affiliations involved in this work. None of the authors has any personal or institutional financial interest in drugs, materials, or devices.


  1. 1.
    Meadows J, Kraut M, Guarneri M et al (2000) Asymptomatic Chiari type I malformations identified on magnetic resonance imaging. J Neurosurg 92(6):920–926CrossRefGoogle Scholar
  2. 2.
    Wu YW, Chin CT, Chan KM et al (1999) Pediatric Chiari I malformations: do clinical and radiologic features correlate? Neurology 25:221–226Google Scholar
  3. 3.
    Genitori L, Peretta P, Nurisso C, Macinante L, Mussa F (2000) Chiari type I anomalies in children and adolescents: minimally invasive management in a series of 53 cases. Childs Nerv Syst 16:707–718CrossRefPubMedGoogle Scholar
  4. 4.
    Park JK, Langham Gleason P, Madsen JR, Goumnerova LC, Scott M (1997) Presentation and management of Chiari I malformation in children. Pedriatr Neurosurg 26:190–196CrossRefGoogle Scholar
  5. 5.
    Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC (1999) Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:1005–1117CrossRefGoogle Scholar
  6. 6.
    Tubbs RS, Mc Girt MJ, Oakes WJ (2003) Surgical experience in 130 pediatric patients with Chiari I malformation. J Neurosurg 99(2):291–296CrossRefGoogle Scholar
  7. 7.
    Attenello FJ, McGirt MJ, Gathinji M et al (2008) Outcome of Chiari-associated syringomyelia after hindbrain decompression in children: analysis of 49 consecutive cases. Neurosurgery 62(6):1307–1313CrossRefPubMedGoogle Scholar
  8. 8.
    Tubbs RS, Beckman J, Naftel RP, Chern JJ, Wellons JC, Rozzelle CJ, Blount JP, Oakes WJ (2011) Institutional experience with 500 cases of surgically treated pediatric Chiari malformation type I. J Neurosurg Pediatr 7(3):248–256CrossRefPubMedGoogle Scholar
  9. 9.
    Greenlee JD, Donovan KA, Hasan DM et al (2001) Pediatrics 110(6):1212–1219CrossRefGoogle Scholar
  10. 10.
    Tubbs RS, Lyerly MJ, Loukas M, Shoja MM, Oakes WJ (2007) The pediatric Chiari I malformation: a review. Childs Nerv Syst 23:1239–1250CrossRefPubMedGoogle Scholar
  11. 11.
    Furtado SV, Thakar S, Hedge AS (2011) Correlation of functional outcome and natural history with clinic-radiological factors in surgically managed pediatric Chiari I malformation. Neurosurgery 68:319–328CrossRefPubMedGoogle Scholar
  12. 12.
    Headache Classification Committee of the International Headache Society-HIS (2018) The International Classification of Headache Disorders, 3rd edition. Cephalalgia 38(1):110Google Scholar
  13. 13.
    Pascual J, Oterino A, Berciano J (1992) Headache in type I Chiari malformation. Neurology 42:1519–1521CrossRefPubMedGoogle Scholar
  14. 14.
    Grangeon L et al (2017) Predictive factors of headache resolution after Chiari type I malformation surgery. World Neurosurgery 110:e60–e66CrossRefPubMedGoogle Scholar
  15. 15.
    Paul KS, Lye RH, Strang FA, Dutton J (1983) Arnold-Chiari malformation. Review of 71 cases. J Neurosurg 58:183–187CrossRefPubMedGoogle Scholar
  16. 16.
    Pasquis P et al (1998) Chiari type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases. J Neurosurg 89:835–838CrossRefGoogle Scholar
  17. 17.
    Pettorini BL, Oesman C, Magdum S (2010) New presenting symptoms of Chiari I malformation: report of two cases. Childs Nerv Syst 26:399–402CrossRefPubMedGoogle Scholar
  18. 18.
    Sivakanthan S, Goldhagen C, Danner C, Agazzi S (2014) Hearing loss and Chiari malformation: a clinical pearl. Clin Neurol Neurosurg 122:20–22CrossRefPubMedGoogle Scholar
  19. 19.
    Massimi L, Della Pepa GM, Tamburrini G et al (2011) Sudden onset of Chiari malformation type I in previously asymptomatic patients. J Neurosurg Pediatr 8(5):438–442CrossRefPubMedGoogle Scholar
  20. 20.
    Miranda SP, Kimmel KT, Silberstein HJ (2016) Acute presentation of Chiari I malformation with hemiparesis in a pediatric patient. World Neurosurgery 85:366.e1–366.e4CrossRefGoogle Scholar
  21. 21.
    Lewis AR, Kline LB, Sharpe JA (1996) Aquired esotropia due to Arnold-Chiari malformation. J Neuroophthalmol 16:49–54CrossRefPubMedGoogle Scholar
  22. 22.
    Almotairi FS, Andersson M, Andersson O, Skoglund T, Tisell M (2018) Swallowing dysfunction in adult patients with Chiari I malformation. J Neurol Surg 79:606–613CrossRefGoogle Scholar
  23. 23.
    Isu T, Iwasaki Y, Akino M, Abe H (1990) Syringomyelia associated with a Chiari I malformation in children and adolescents. Neurosurgery 26(4):591–596CrossRefPubMedGoogle Scholar
  24. 24.
    Isu T, Chono Y, Iwasaki Y, Koyanagi I, Akino M, Abe H, Abumi K, Kaneda K (1992) Scoliosis associated with syringomyelia presentingin children. Childs Nerv Syst 8(2):97–100CrossRefPubMedGoogle Scholar
  25. 25.
    Oakes J, Thompson D (2014) Paediatric perspectives. In: Flint G, Rusbridge C (eds) Syringomyelia. Springer-Verlag, Berlin, pp 193–2017CrossRefGoogle Scholar
  26. 26.
    Brockmeyer D (2011) Editorial. J Neurosurg Pediatr 7:22–23CrossRefPubMedGoogle Scholar
  27. 27.
    Luciano M (2011) Chiari malformation: are children little adults? Neurol Res 33(3):272–277CrossRefPubMedGoogle Scholar
  28. 28.
    Ciaramitaro P, Baldovino S, Roccatello D et al (2011) Chiari and syringomyelia consortium: a model of multidisciplinary and sharing path for rare diseases. Neurol Sci 32 (Suppl.3:S271–S272CrossRefPubMedGoogle Scholar
  29. 29.
    Taylor RF, Larkins MV (2002) Headache and Chiari I malformation: clinical presentation, diagnosis and controversies in management. Current Pain Headache Reports 6:331–337CrossRefPubMedGoogle Scholar
  30. 30.
    Scelsa SN (2000) Syringomyelia presenting as ulnar neuropathy at the elbow. Clin Neurophysiol 111:1527–1530CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Interregional Centre of Expertise for Syringomyelia and Chiari, Neuroscience DepartmentAOU Città della Salute e della Scienza di TorinoTorinoItaly
  2. 2.Diagnostic Imaging DepartmentAOU Citta’ della Salute e della Scienza di TorinoTorinoItaly
  3. 3.Neurosurgery Unit, Neuroscience DepartmentUniversity of TorinoTorinoItaly

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