Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies

• Published in: Brain Sciences
• Main Authors: Corneliu Toader, Horia Ples, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Bogdan-Gabriel Bratu, David-Ioan Dumitrascu, Luca Andrei Glavan, Alexandru Vlad Ciurea
• Format: Article
• Language: English
• Published: MDPI AG 2023-11-01
• Subjects: Chiari 1; Chiari 2; cerebral malformation; syringomyelia; neurosurgery; syrinx pathologies
• Online Access: https://www.mdpi.com/2076-3425/13/12/1658

Chiari Malformation and Syringomyelia are neurosurgical entities that have been the subject of extensive research and clinical interest. Globally prevalent, these disorders vary demographically and have witnessed evolving temporal trends. Chiari Malformation impacts the normal cerebrospinal fluid flow, consequently affecting overall health. Key observations from canine studies offer pivotal insights into the pathogenesis of Syringomyelia and its extrapolation to human manifestations. Genetics plays a pivotal role; contemporary knowledge identifies specific genes, illuminating avenues for future exploration. Clinically, these disorders present distinct phenotypes. Diagnostically, while traditional methods have stood the test of time, innovative neurophysiological techniques are revolutionizing early detection and management. Neuroradiology, a cornerstone in diagnosis, follows defined criteria. Advanced imaging techniques are amplifying diagnostic precision. In therapeutic realms, surgery remains primary. For Chiari 1 Malformation, surgical outcomes vary based on the presence of Syringomyelia. Isolated Syringomyelia demands a unique surgical approach, the effectiveness of which is continually being optimized. Post-operative long-term prognosis and quality of life measures are crucial in assessing intervention success. In conclusion, this review amalgamates existing knowledge, paving the way for future research and enhanced clinical strategies in the management of Chiari Malformation and Syringomyelia.