Chiari malformations: not every disability is visible
DOI:
https://doi.org/10.18203/2349-3291.ijcp20223071Keywords:
Chiari malformation, Arnold-Chiari, Syringomyelia, Hydrocephalus, CerebellumAbstract
In Chiari malformation (CM), portions of the brain or spinal cord is pushed down through the foramen magnum, which is located at the bottom of your skull. This causes a portion of the brain to be in contact with the part of the spinal column-usually the spinal cord. The cerebrospinal fluid, however, may be pushed up through the hole making it difficult to detect in this condition. These are a collection of malformations affecting the cerebellum, pons, and medulla oblongata in the posterior fossa and hindbrain. Problems caused by these malformations range from the lack of the cerebellum to the cerebellar tonsils protruding through the foramen magnum, with or without additional intracranial or extracranial anomalies such as hydrocephalus, encephalocele, syrinx, or spinal dysraphism. CMs can be of several types and are more common in females than in males and in children than in adults. This is because they are growing and developing at a rapid rate, which leads them to have a greater amount of skull growth. In this review article, we discuss the various types of CMs, their pathophysiology, clinical features, imaging characteristics, treatment, and why they form an important complex of rare disorders necessary to be diagnosed early.
References
Schijman, E. History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst. 2004;20:323-8.
Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg. Spine. 2007;7(6):601-9.
Furtado SV, Reddy K, Hegde AS. Posterior fossa morphometry in symptomatic pediatric and adult Chiari I malformation. J Clin Neurosci. 2009;16(11):1449-54.
Loukas M, Shayota BJ, Oelhafen K, Miller JH, Chern JJ, Tubbs RS, Oakes WJ. Associated disorders of Chiari Type I malformations: a review. Neurosurg Focus. 2011;31(3):E3.
Freeman MD, Rosa S, Harshfield D, Smith F, Bennett R, Centeno CJ, Kornel E, Nystrom A, Heffez D, Kohles SS. A case-control study of cerebellar tonsillar ectopia (Chiari) and head/neck trauma (whiplash). Brain Injury. 2010;24(7-8):988-94.
Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg. Spine. 2007;7(6):601-9.
Tubbs RS, Iskandar BJ, Bartolucci AA, Oakes WJ. A critical analysis of the Chiari 1.5 malformation. J Neurosurg. 2004;101(2):179-83.
Albright AL, Pollack IF. Principles and practice of pediatric neurosurgery. Third edition. Thieme : New York. 2014.
Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B. Congenital Chiari malformations. Neurology India. 2010;58(1) 6-14.
McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci. 1989;15(1):1-12.
Zhang D, Melikian R, Papavassiliou E. Chiari I Malformation Presenting as Shoulder Pain, Weakness, and Muscle Atrophy in a Collegiate Athlete. Curr Sports Med Rep. 2016;15(1):10-2.
Rogers JM, Savage G, Stoodley MA. A Systematic Review of Cognition in Chiari I Malformation. Neuropsychol Rev. 2018;28(2):176-87.
Jayamanne C, Fernando L, Mettananda S. Chiari malformation type 1 presenting as unilateral progressive foot drop: a case report and review of literature. BMC Pediatr. 2018;18(1):34.
Andica C, Soetikno RD. Chiari malformation type III: Case report and review of the literature. Radiol Case Rep. 2015;8(3):831.
Fisahn C, Shoja MM, Turgut M, Oskouian RJ, Oakes WJ, Tubbs RS. The Chiari 3.5 malformation: a review of the only reported case. Child's Nervous System. 2016;32(12):2317-9.
Yu F, Jiang QJ, Sun XY, Zhang RW. A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. Brain. 2015;138(6):e353.
Tubbs RS, Muhleman M, Loukas M, Oakes WJ (February 2012). "A new form of herniation: the Chiari V malformation". Child's Nervous System. 28 (2): 305–7. doi:10.1007/s00381-011-1616-5. PMID 22038152. S2CID 3255189.
Udayakumaran S. Chiari V or Chiari II plus?. Child's Nervous System. 2012;28(3):337-8.
Klekamp J. How Should Syringomyelia be Defined and Diagnosed? World Neurosurg. 2018;111:e729-45.
Thomas M. The lemon sign. Radiology. 2003;228(1):206-7.
Nicolaides KH, Campbell S, Gabbe SG, Guidetti R. Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet. 1986;2(8498):72-4.
Lin W, Duan G, Xie J, Shao J, Wang Z, Jiao B. Comparison of Results Between Posterior Fossa Decompression with and without Duraplasty for the Surgical Treatment of Chiari Malformation Type I: A Systematic Review and Meta-Analysis. World Neurosurg. 2018;110:460-74.
Giammattei L, Borsotti F, Parker F, Messerer M. Chiari I malformation: surgical technique, indications and limits. Acta Neurochir (Wien). 2018;160(1):213-7.
Imperato A, Seneca V, Cioffi V, Colella G, Gangemi M. Treatment of Chiari malformation: who, when and how. Neurol Sci. 2011;32(3):S335-9.
Klekamp J, Batzdorf U, Samii M, Bothe HW. The surgical treatment of Chiari I malformation. Acta Neurochirurgica. 1996;138(7):788-801.
Goel A, Gore S, Shah A, Dharurkar P, Vutha R, Patil A. Atlantoaxial Fixation for Chiari 1 Formation in Pediatric Age-Group Patients: Report of Treatment in 33 Patients. World Neurosurg. 2018;111:e668-77.
Martinez-Sabater A, Ballestar-Tarin ML, Vazquez-Seoane M, Mari-Avargues L, Saus-Ortega C, Del Carmen Casal-Angulo M. Quality of Life in Individuals Affected by Arnold Chiari Malformation: Comparison and Validation of a Measurement Instrument. Endocr Metab Immune Disord Drug Targets. 2018;18(4):388-96.
