Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report

Neurosurgery. 1995 Jul;37(1):129-33. doi: 10.1227/00006123-199507000-00020.

Abstract

unilateral absence of the greater wing of the sphenoid bone is a distinctive but uncommon manifestation of Type I neurofibromatosis, which has until now been regarded as a developmental anomaly of mesodermal origin. A computed tomographic scan was obtained in a 4-week-old infant with an abnormal left eye. The scan demonstrated an intact ipsilateral sphenoid bone, except for minor expansion of the medial end of the left superior orbital fissure. Another computed tomographic scan was obtained 6 years later, when the child had café-au-lait patches, axillary freckling, Lisch nodules, and left phthisis bulbi. This later scan showed typical sphenoid dysplasia. Much of the greater wing was absent, and the anterior temporal pole was displaced anteriorly. In this article, we discuss the implications of this case in terms of the cause of this condition and the diagnosis of Type I neurofibromatosis.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Eye Abnormalities / diagnostic imaging*
  • Eye Abnormalities / pathology
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Neurofibromatosis 1 / diagnostic imaging*
  • Neurofibromatosis 1 / pathology
  • Sphenoid Bone / abnormalities*
  • Sphenoid Bone / diagnostic imaging
  • Sphenoid Bone / pathology
  • Tomography, X-Ray Computed