Childhood orbitotemporal neurofibromatosis masked by congenital glaucoma and buphthalmos

J Pediatr Ophthalmol Strabismus. 2011 Jul 19:48 Online:e49-51. doi: 10.3928/01913913-20110712-06.

Abstract

In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of orbitotemporal neurofibromatosis. The authors present the diagnostic challenge of an unusual case of neurofibromatosis type 1 with unilateral congenital glaucoma, buphthalmos, and sphenoid-orbital dysplasia. The accompanying type of osseous orbital dysplasia has rarely been described in the literature, complicating the diagnostic and management process.

Publication types

  • Case Reports

MeSH terms

  • Alkylating Agents / administration & dosage
  • Diagnosis, Differential
  • Glaucoma / congenital
  • Glaucoma / diagnosis*
  • Glaucoma / surgery
  • Humans
  • Hydrophthalmos / diagnosis*
  • Hydrophthalmos / surgery
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mitomycin / administration & dosage
  • Neurofibromatosis 1 / diagnosis*
  • Orbital Neoplasms / diagnosis*
  • Skull Neoplasms / diagnosis*
  • Sphenoid Bone / pathology*
  • Tomography, X-Ray Computed
  • Trabeculectomy

Substances

  • Alkylating Agents
  • Mitomycin