von Hippel-Lindau disease manifesting as a chiasmal syndrome.
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.
Balcer
L J
LJ
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.
Galetta
S L
SL
Curtis
M
M
Maguire
A
A
Judy
K
K
D000328:Adult; D002528:Cerebellar Neoplasms / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D018325:Hemangioblastoma / Q000175:diagnosis*; D006801:Humans; D009897:Optic Chiasm; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000175:diagnosis*