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Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1786792
Special Issue 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

 

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