Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum

Submitted: December 14, 2018
Accepted: February 20, 2019
Published: March 8, 2019
Abstract Views: 994
PDF: 435
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Authors

The authors discuss the association of papilledema with Chiari I malformation (CMI) and syringomyelia on the basis of a clinical case studied by radiology, immunology and biochemistry methods. In the presence of normal haematology, blood immunology and biochemistry, clinical signs of headache and papilledema associated to hemifacial asymmetry, blind neck fistulas, malformed ears and spinal abnormalities (symptoms of oculo-auricolo- vertebral spectrum - OAVS), were observed. Magnetic resonance images and computed tomography demonstrated the occurrence of lowered cerebellar tonsils, but with values lower than those typical of the CMI syndrome and syringomyelia. The authors concluded for a minor form (benign ectopia) in the CMI syndrome, associated to papilledema and syringomyelia, and hypothesize an unique pathogenetic mechanism for this complex, connected to neural crest cell development and to OAVS, as extension of this spectrum. The authors underline the relevance of the facial/neck lateral signs for the diagnosis of OAVS associated to brain stem pathology and CMI.

Dimensions

Altmetric

PlumX Metrics

Downloads

Download data is not yet available.

Citations

How to Cite

Berio, A., Garlaschi, G., Mangiante, G., Mariottini, G. L., & Piazzi, A. (2019). Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum. Journal of Biological Research - Bollettino Della Società Italiana Di Biologia Sperimentale, 92(1). https://doi.org/10.4081/jbr.2019.8001