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

• Main Authors: Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Gian Luigi Mariottini, Attilia Piazzi
• Format: Article
• Language: English
• Published: PAGEPress Publications 2019-03-01
• Series: Journal of Biological Research
• Subjects: Chiari I malformation; Papilledema; Syringomyelia; Headache; Facial abnormalities; Neural crest cells
• Online Access: https://www.pagepressjournals.org/index.php/jbr/article/view/8001

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.