Clinical significance of subthreshold cerebellar tonsil ectopia into foramen magnum and Chiari malformation type 0

Abstract

Cerebellar tonsil dislocation into foramen magnum exceeding 5 mm is traditionally considered as Chiari malformation type 1. This disease requires surgical treatment in case of severe clinical manifestations. In patients with hypoplasia of posterior cranial fossa (PCF), subthreshold tonsil dislocations or tonsil position inside the foramen magnum can result clinical signs identical to Chiari malformation type 1. These disorders are presumably referred to phenotypic variant of Chiari malformation type 1 (Chiari malformation type 0). The authors discuss the data on the prevalence and mechanisms of cerebellar tonsil ectopia into foramen magnum, the role of hereditary and environmental factors in development of PCF hypoplasia and its role in Chiari malformation type 1 and 0. Significance of MR-based morphometry of PCF in identifying the primary forms (Chiari malformation type 1 and 0), clinical and radiological signs of malformation type 0, as well as data on surgical treatment of Chiari malformation type 0 combined and non-combined with syringomyelia are analyzed. Literature data confirm validity of the concept of Chiari malformation type 0. We emphasize the need for further analysis of this problem to identify sensitive and specific diagnostic signs of Chiari malformation type 0 and determine optimal treatment strategy.