The Pathogenesis of Chiari Malformation and Syringomyelia: A Case Report and Systematic Review of Current Theories

Abstract

We report a case of a 42-year-old female presenting with left axillary pain radiating down the arm and weakness in the ipsilateral hand. Specialist examinations of neurological and musculoskeletal systems were insignificant. Magnetic resonance imaging (MRI) of the whole spine and brain revealed cerebellar tonsillar herniation of 9-10mm indicating a Chiari type 1 malformation and a large tubular T2 high-intensity lesion in the cervical cord, extending from the C2/3-disc level down to C6/C7 as well as a similar but smaller lesion behind the bodies of C7 and T1. Both lesions were consistent with syringomyelia. Surgical intervention was deemed inappropriate, and she was treated with three months of physiotherapy. Regular follow-up for two years showed gradual symptom resolution, syrinx shrinkage, and no further complications arising secondary to Chiari type 1 malformation. Chiari malformation is an anatomical anomaly of the cranio-cervical junction. It is often incidentally found on MRI, but although asymptomatic in the population, complications associated with the condition such as syringomyelia are a common initial presentation. The relationship between Chiari malformation, particularly Chiari type 1 malformation, and syringomyelia is close with the majority of patients often presenting with idiopathic syringomyelia also found to have a Chiari type 1 malformation. Considerable discussion about the pathogenic mechanisms for syringomyelia development in Chiari malformation is recognized and advancing continually.