Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?

AJNR Am J Neuroradiol. 1999 Jun-Jul;20(6):1154-7.

Abstract

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carotid Artery, Internal / abnormalities*
  • Cerebral Angiography
  • Coloboma / complications
  • Encephalocele / complications*
  • Encephalocele / diagnosis
  • Humans
  • Hypertelorism / complications
  • Hypopituitarism / complications
  • Magnetic Resonance Imaging
  • Male
  • Neural Crest / abnormalities
  • Optic Nerve Diseases / complications
  • Sphenoid Bone / abnormalities
  • Sphenoid Bone / pathology
  • Syndrome
  • Tomography, X-Ray Computed