Oculocerebral dysgenesis in the linear nevus sebaceous syndrome

Ophthalmology. 1997 Mar;104(3):497-503. doi: 10.1016/s0161-6420(97)30285-1.


Purpose: The authors document the association of peripapillary staphyloma and an atypical variant of hemimegalencephaly with the linear nevus sebaceous syndrome.

Background: Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder that has a propensity to involve the eyes.

Methods: Clinical, histopathologic, and neuroimaging findings are examined in a child with linear nevus sebaceous syndrome.

Results: In addition to bilateral peripapillary staphylomas, ophthalmologic abnormalities included a corneal dermoid, a complex conjunctival choristoma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of hemimegalencephaly characterized by hypoplasia of an optic radiation within the enlarged, dysgenetic cerebral hemisphere.

Conclusion: The spectrum of oculocerebral dysgenesis in the linear nevus sebaceous syndrome can be expanded to include peripapillary staphyloma and atypical hemimegalencephaly with hypoplasia of an optic radiation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology
  • Child, Preschool
  • Choristoma / pathology*
  • Conjunctival Neoplasms / pathology*
  • Eye Abnormalities / pathology*
  • Facial Neoplasms / pathology*
  • Humans
  • Lacrimal Apparatus Diseases / pathology
  • Magnetic Resonance Imaging
  • Male
  • Nevus, Pigmented / pathology*
  • Optic Disk / pathology
  • Sebaceous Glands / pathology*
  • Skin Diseases / pathology
  • Syndrome