title: Chiari 2 without spinal dysraphism: does it blow a hole in the pathogenesis?
abstract: Chiari malformation type 2 is characterized by hindbrain protrusion and a constellation of supratentorial malformations. Chiari malformation type 2 is thought to be causally related to myelomeningocele due to intrauterine cerebrospinal fluid overdrainage. This relationship is so strong that it has become a rule. A 14-year-old girl affected by mental retardation, spastic triparesis, and epilepsy is presented. Brain magnetic resonance imaging disclosed a severe Chiari malformation type 2, whereas spine magnetic resonance imaging was unremarkable. The authors discuss previous literature describing rare cases of Chiari malformation type 2 without open spinal dysraphism and the relevance of concomitant, sometimes overlooked, neuroimaging findings, underlying how exceptions might be hurdles but might also eventually strengthen the rules.
authors.affiliation: Division of Neuroradiology, University Hospital of Padua, Italy. valentinacitton@gmail.com
authors.forename: Valentina
authors.initials: V
authors.lastname: Citton
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Laura
authors.initials: L
authors.lastname: Balao
authors.forename: Andrea
authors.initials: A
authors.lastname: Pettenazzo
authors.forename: Enzo
authors.initials: E
authors.lastname: Emanuelli
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.forename: Milena
authors.initials: M
authors.lastname: Calderone
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum / Q000150:complications* / Q000473:pathology; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology