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Journal of Pediatric Neurology 2024; 22(05): 359-365
DOI: 10.1055/s-0044-1786792
Review Article

Anomalies of the Craniocervical Junction (Chiari Malformations)

Andrea Giugno‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Valeria Fichera‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Antonio Zanghì‡   *
2   Research Center for Surgery of Complex Malformation Syndromes of Transition and Adulthood, Department of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Catania, Italy
,
Michele Vecchio
3   Rehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Marco Catalano
4   Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Stefano Palmucci
5   IPTRA Unit, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Giuseppe Belfiore
6   Unit of Radiology 1, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Salvatore Lavalle
7   Chair of Radiology, Department of Medicine and Surgery, Kore University, Enna, Italy
,
Agata Polizzi
8   Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
,
Andrea D. Praticò
9   Chair of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
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Abstract

Arnold Chiari malformations include a combination of posterior fossa, hindbrain, and cervical occipital junction abnormalities, sometimes associated with spinal cord abnormalities such as spina bifida, syringomyelia, and syringobulbia. The most frequent form is Chiari I syndrome but two other variants, progressively more severe, have been described. Chiari malformations are the result of defective development of posterior fossa and can be due to genetic mutations, skeletal malformations, and intrautero factors. Clinical manifestations depend on the compression of the nerve structures within the foramen magnum and the spinal canal and mainly consist in headache or neck pain, gait disturbances, sensory or motor abnormalities, and autonomic signs. However, a high number of cases of Chiari I is asymptomatic and the diagnosis is occasional. Diagnosis is performed through nuclear magnetic resonance imaging of the brain and cervical tract, although other investigations may support the diagnosis. First-line treatment for candidate patients is a surgical procedure that involves decompression of the posterior cranial fossa and the craniocervical junction, as well as correction of associated malformations with techniques that depend on the severity of the case. Anyhow, some symptomatic patients benefit from conservative medical treatment with nonsteroidal anti-inflammatory drugs.

Keywords

craniocervical junction - Chiari - malformation - genetics - surgery

* These authors contributed equally to the article.




Publication History

Received: 11 December 2023

Accepted: 03 April 2024

Article published online:
29 May 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Arora R. Imaging spectrum of cerebellar pathologies: a pictorial essay. Pol J Radiol 2015; 80: 142-150
    CrossrefPubMedGoogle Scholar
  • 2 Ruggieri M, Praticò AD, Serra A. et al. Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms. Childs Nerv Syst 2017; 33 (04) 549-560
    CrossrefPubMedGoogle Scholar
  • 3 Hidalgo JA, Tork CA, Varacallo M. Arnold Chiari Malformation. September 5, 2022. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; ; January 2022. PMID: 28613730
    Google Scholar
  • 4 Falsaperla R, D'Angelo G, Praticò AD. et al. Ketogenic Diet for Infants with Epilepsy: A Literature Review. Epilepsy & Beavior; 2020: 112
    Google Scholar
  • 5 Arnautovic A, Splavski B, Boop FA, Arnautovic KI. Pediatric and adult Chiari malformation Type I surgical series 1965-2013: a review of demographics, operative treatment, and outcomes. J Neurosurg Pediatr 2015; 15 (02) 161-177
    CrossrefPubMedGoogle Scholar
  • 6 Pavone P, Briuglia S, Falsaperla R. et al. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13. Am J Med Genet A 2014; 164A (07) 1734-1743
    CrossrefPubMedGoogle Scholar
  • 7 Langridge B, Phillips E, Choi D. Chiari malformation type 1: a systematic review of natural history and conservative management. World Neurosurg 2017; 104: 213-219
    CrossrefPubMedGoogle Scholar
  • 8 Pavone P, Praticò AD, Ruggieri M, Falsaperla R. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 2015; 36 (07) 1173-1180
    CrossrefPubMedGoogle Scholar
  • 9 Aitken LA, Lindan CE, Sidney S. et al. Chiari type I malformation in a pediatric population. Pediatr Neurol 2009; 40 (06) 449-454
    CrossrefPubMedGoogle Scholar
  • 10 Pavone P, Praticò AD, Ruggieri M. et al. Acquired peripheral neuropathy: a report on 20 children. Int J Immunopathol Pharmacol 2012; 25 (02) 513-517
    CrossrefPubMedGoogle Scholar
  • 11 Frič R, Eide PK. Chiari type 1-a malformation or a syndrome? A critical review. Acta Neurochir (Wien) 2020; 162 (07) 1513-1525
    CrossrefPubMedGoogle Scholar
  • 12 Pratico AD, Ruggieri M, Falsaperla R, Pavone P. A probable topiramate-induced limbs paraesthesia and rigid fingers flexion. Curr Drug Saf 2018; 13 (02) 131-136
    CrossrefPubMedGoogle Scholar
  • 13 Boyles AL, Enterline DS, Hammock PH. et al. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genet A 2006; 140 (24) 2776-2785
    CrossrefPubMedGoogle Scholar
  • 14 Pavone P, Nigro F, Falsaperla R. et al. Hemihydranencephaly: living with half brain dysfunction. Ital J Pediatr 2013; 39: 3
    CrossrefPubMedGoogle Scholar
  • 15 Markunas CA, Soldano K, Dunlap K. et al. Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. PLoS One 2013; 8 (04) e61521
    CrossrefPubMedGoogle Scholar
  • 16 Pavone P, Praticò AD, Gentile G. et al. A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features. Eur J Med Genet 2016; 59 (05) 283-289
    CrossrefPubMedGoogle Scholar
  • 17 Markunas CA, Enterline DS, Dunlap K. et al. Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation. Ann Hum Genet 2014; 78 (01) 1-12
    CrossrefPubMedGoogle Scholar
  • 18 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Rediagnosing one of Smith's patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 2017; 38 (03) 493-499
    CrossrefPubMedGoogle Scholar
  • 19 Gonçalves D, Lourenço L, Guardiano M, Castro-Correia C, Sampaio M, Leão M. Chiari malformation type I in a patient with a novel NKX2-1 mutation. J Pediatr Neurosci 2019; 14 (03) 169-172
    CrossrefPubMedGoogle Scholar
  • 20 Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C. Introduction to phacomatoses (neurocutaneous disorders) in childhood. Childs Nerv Syst 2020; 36 (10) 2229-2268
    CrossrefPubMedGoogle Scholar
  • 21 Rosenblum JS, Maggio D, Pang Y. et al. Chiari malformation type 1 in EPAS1-associated syndrome. Int J Mol Sci 2019; 20 (11) 2819
    CrossrefPubMedGoogle Scholar
  • 22 Incorpora G, Pavone P, Castellano-Chiodo D, Praticò AD, Ruggieri M, Pavone L. Gelastic seizures due to hypothalamic hamartoma: rapid resolution after endoscopic tumor disconnection. Neurocase 2013; 19 (05) 458-461
    CrossrefPubMedGoogle Scholar
  • 23 Milhorat TH, Chou MW, Trinidad EM. et al. Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 1999; 44 (05) 1005-1017
    CrossrefPubMedGoogle Scholar
  • 24 Leonardi S, Praticò AD, Lionetti E, Spina M, Vitaliti G, La Rosa M. Intramuscular vs intradermal route for hepatitis B booster vaccine in celiac children. World J Gastroenterol 2012; 18 (40) 5729-5733
    CrossrefPubMedGoogle Scholar
  • 25 Tsuda M, Takahashi S, Takahashi Y, Asahara H. Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9. J Biol Chem 2003; 278 (29) 27224-27229
    CrossrefPubMedGoogle Scholar
  • 26 Palano GM, Praticò AD, Praticò ER. et al. Intossicazione accidentale da alcol etilico in un lattante di 30 giorni. Quadro clinico e follow-up neurologico. Minerva Pediatr 2007; 59 (03) 275-279
    PubMedGoogle Scholar
  • 27 Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J 2007; 54 (04) 637-641
    CrossrefPubMedGoogle Scholar
  • 28 Fiumara A, Lanzafame G, Arena A. et al. COVID-19 pandemic outbreak and its psychological impact on patients with rare lysosomal diseases. J Clin Med 2020; 9 (09) 2716
    CrossrefPubMedGoogle Scholar
  • 29 McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 1989; 15 (01) 1-12
    CrossrefPubMedGoogle Scholar
  • 30 Praticò AD, Leonardi S. Immunotherapy for food allergies: a myth or a reality?. Immunotherapy 2015; 7 (02) 147-161
    CrossrefPubMedGoogle Scholar
  • 31 Hadley DM. The Chiari malformations. J Neurol Neurosurg Psychiatry 2002; 72 (Suppl 2, Suppl 2): ii38-ii40
    PubMedGoogle Scholar
  • 32 Salafia S, Praticò AD, Pizzo E, Greco F, Di Bella D. Hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance findings in a 3-year-old boy. Neurol Neurochir Pol 2013; 47 (06) 584-589
    CrossrefPubMedGoogle Scholar
  • 33 Kim IK, Wang KC, Kim IO, Cho BK. Chiari 1.5 malformation: an advanced form of Chiari I malformation. J Korean Neurosurg Soc 2010; 48 (04) 375-379
    CrossrefPubMedGoogle Scholar
  • 34 Praticò AD, Ruggieri M. COVID-19 vaccination for children: may be necessary for the full eradication of the disease. Pediatr Res 2021; 90 (06) 1102-1103
    CrossrefPubMedGoogle Scholar
  • 35 Dlouhy BJ, Dawson JD, Menezes AH. Intradural pathology and pathophysiology associated with Chiari I malformation in children and adults with and without syringomyelia. J Neurosurg Pediatr 2017; 20 (06) 526-541
    CrossrefPubMedGoogle Scholar
  • 36 Ruggieri M, Polizzi A, Catanzaro S, Bianco ML, Praticò AD, Di Rocco C. Neurocutaneous melanocytosis (melanosis). Childs Nerv Syst 2020; 36 (10) 2571-2596
    CrossrefPubMedGoogle Scholar
  • 37 Koyanagi I, Houkin K. Pathogenesis of syringomyelia associated with Chiari type 1 malformation: review of evidences and proposal of a new hypothesis. Neurosurg Rev 2010; 33 (03) 271-284 , discussion 284–285
    CrossrefPubMedGoogle Scholar
  • 38 Praticò AD, Mistrello G, La Rosa M. et al. Immunotherapy: a new horizon for egg allergy?. Expert Rev Clin Immunol 2014; 10 (05) 677-686
    CrossrefPubMedGoogle Scholar
  • 39 Pakzaban P. Technique for mini-open decompression of Chiari type I malformation in adults. Oper Neurosurg (Hagerstown) 2017; 13 (04) 465-470
    CrossrefPubMedGoogle Scholar
  • 40 Praticò AD. COVID-19 pandemic for pediatric health care: disadvantages and opportunities. Pediatr Res 2021; 89 (04) 709-710
    CrossrefPubMedGoogle Scholar
  • 41 Rogers JM, Savage G, Stoodley MA. A systematic review of cognition in Chiari I malformation. Neuropsychol Rev 2018; 28 (02) 176-187
    CrossrefPubMedGoogle Scholar
  • 42 Praticò AD, Giallongo A, Arrabito M. et al. SCN2A and its related epileptic phenotypes. J Pediatr Neurol 2021; ••• DOI: 10.1055/s-0041-1727097.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 43 Aboulezz AO, Sartor K, Geyer CA, Gado MH. Position of cerebellar tonsils in the normal population and in patients with Chiari malformation: a quantitative approach with MR imaging. J Comput Assist Tomogr 1985; 9 (06) 1033-1036
    CrossrefPubMedGoogle Scholar
  • 44 Praticò AD, Falsaperla R, Comella M, Belfiore G, Polizzi A, Ruggieri M. Case report: a gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth. Front Pediatr 2023; 11: 1101026
    CrossrefPubMedGoogle Scholar
  • 45 Elster AD, Chen MY. Chiari I malformations: clinical and radiologic reappraisal. Radiology 1992; 183 (02) 347-353
    CrossrefPubMedGoogle Scholar
  • 46 Vincent A, Jacobson L, Plested P. et al. Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita. Ann N Y Acad Sci 1998; 841: 482-496
    CrossrefPubMedGoogle Scholar
  • 47 Meehan III WP, Jordaan M, Prabhu SP, Carew L, Mannix RC, Proctor MR. Risk of athletes with Chiari malformations suffering catastrophic injuries during sports participation is low. Clin J Sport Med 2015; 25 (02) 133-137
    CrossrefPubMedGoogle Scholar
  • 48 Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E. Aicardi syndrome with multiple tumors: a case report with literature review. Brain Dev 1995; 17 (04) 283-285
    CrossrefPubMedGoogle Scholar
  • 49 Nicolaides KH, Campbell S, Gabbe SG, Guidetti R. Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 1986; 2 (8498) 72-74
    CrossrefPubMedGoogle Scholar
  • 50 Polizzi A, Pavone P, Parano E, Incorpora G, Ruggieri M. Lack of progression of brain atrophy in Aicardi-Goutières syndrome. Pediatr Neurol 2001; 24 (04) 300-302
    CrossrefPubMedGoogle Scholar
  • 51 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: 460-474.e5
    CrossrefPubMedGoogle Scholar
  • 52 Leuzzi V, Mastrangelo M, Polizzi A. et al. Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?. JIMD Rep 2015; 15: 39-45
    PubMedGoogle Scholar
  • 53 Chen J, Li Y, Wang T. et al. Comparison of posterior fossa decompression with and without duraplasty for the surgical treatment of Chiari malformation type I in adult patients: a retrospective analysis of 103 patients. Medicine (Baltimore) 2017; 96 (04) e5945
    CrossrefPubMedGoogle Scholar
  • 54 Ruggieri M, Polizzi A. From Aldrovandi's “Homuncio” (1592) to Buffon's girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?. J Med Genet 2003; 40 (03) 227-232
    CrossrefPubMedGoogle Scholar
  • 55 Lou Y, Yang J, Wang L, Chen X, Xin X, Liu Y. The clinical efficacy study of treatment to Chiari malformation type I with syringomyelia under the minimally invasive surgery of resection of submeningeal cerebellar tonsillar herniation and reconstruction of cisterna magna. Saudi J Biol Sci 2019; 26 (08) 1927-1931
    CrossrefPubMedGoogle Scholar
  • 56 Pavone P, Polizzi A, Longo MR. et al. Congenital myasthenic syndromes: clinical and molecular report on 7 Sicilian patients. J Pediatr Neurosci 2013; 8 (01) 19-21
    CrossrefPubMedGoogle Scholar
  • 57 Messing-Jünger M, Röhrig A. Primary and secondary management of the Chiari II malformation in children with myelomeningocele. Childs Nerv Syst 2013; 29 (09) 1553-1562
    CrossrefPubMedGoogle Scholar
  • 58 Ruggieri M, Milone P, Pavone P. et al. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 2012; 158A (11) 2870-2880
    CrossrefPubMedGoogle Scholar
  • 59 Greenberg JK, Yarbrough CK, Radmanesh A. et al. The Chiari Severity Index: a preoperative grading system for Chiari malformation type 1. Neurosurgery 2015; 76 (03) 279-285 , discussion 285
    CrossrefPubMedGoogle Scholar
  • 60 Ruggieri M, Iannetti P, Clementi M. et al. Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 2009; 25 (02) 211-216
    CrossrefPubMedGoogle Scholar
  • 61 Rocque BG, Oakes WJ. Surgical treatment of Chiari I malformation. Neurosurg Clin N Am 2015; 26 (04) 527-531
    CrossrefPubMedGoogle Scholar
  • 62 Pavone P, Praticò AD, Pavone V. et al. Ataxia in children: early recognition and clinical evaluation. Ital J Pediatr 2017; 43 (01) 6
    CrossrefPubMedGoogle Scholar
  • 63 Kular S, Cascella M. Chiari I Malformation. February 5, 2022. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; ; January 2022
    Google Scholar
  • 64 Ruggieri M, Pavone V, De Luca D, Franzò A, Tiné A, Pavone L. Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). J Pediatr Orthop 1999; 19 (03) 301-305
    CrossrefPubMedGoogle Scholar
  • 65 Ruggieri M, Huson SM. The neurofibromatoses. An overview. Ital J Neurol Sci 1999; 20 (02) 89-108
    CrossrefPubMedGoogle Scholar
  • 66 Pratico AD, Longo L, Mansueto S. et al. Off-label use of drugs and adverse drug reactions in pediatric units: a prospective, multicenter study. Curr Drug Saf 2018; 13 (03) 200-207
    CrossrefPubMedGoogle Scholar
  • 67 Ruggieri M. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 2000; 159 (10) 745-749
    CrossrefPubMedGoogle Scholar
  • 68 Ruggieri M, Polizzi A, Pavone L, Musumeci S. Thalamic syndrome in children with measles infection and selective, reversible thalamic involvement. Pediatrics 1998; 101 (1 Pt 1): 112-119
    CrossrefPubMedGoogle Scholar