von Hippel-Lindau disease manifesting as a chiasmal syndrome

Surv Ophthalmol. 1995 Jan-Feb;39(4):302-6. doi: 10.1016/s0039-6257(05)80107-9.

Abstract

A 21-year-old woman presented with a two year history of progressive loss of vision in the left eye. Brain MRI revealed a supresellar mass felt to be most consistent with a meningioma. However, pathologic examination including special stains disclosed features characteristic of hemangioblastoma. Further evaluation established the diagnosis of von Hippel-Lindau disease by demonstrating retinal capillary hemangiomas, small renal and hepatic cysts, and cervico-medullary masses later confirmed to be hemangioblastomas. To date, no other family members have displayed features of this inherited syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebellar Neoplasms / diagnosis*
  • Diagnosis, Differential
  • Female
  • Hemangioblastoma / diagnosis*
  • Humans
  • Optic Chiasm*
  • Syndrome
  • von Hippel-Lindau Disease / diagnosis*