title: Choroid plexus papilloma. A new presentation of von Hippel-Lindau (VHL) disease.
abstract: A definite association between Von Hippel-Lindau [VHL] disease and choroid plexus tumour has not been described previously. A 24-year-old patient was found to have a choroid plexus tumour in the left cerebellopontine angle and involving the temporal bone. Examination of her fundi revealed bilateral retinal angiomatosis, thus making a diagnosis of von Hippel-Lindau disease. Later, an abdominal scan showed renal and pancreatic cysts. An important point is that molecular analysis of the choroid plexus tumour tissue showed chromosome 3 allele loss as described for other tumour types associated with von Hippel-Lindau disease.
authors.affiliation: Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.
authors.forename: T L
authors.initials: TL
authors.lastname: Blamires
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D000328:Adult; D016545:Choroid Plexus Neoplasms / Q000209:etiology* / Q000473:pathology; D005134:Eye Neoplasms / Q000209:etiology; D005260:Female; D006391:Hemangioma / Q000209:etiology; D006801:Humans; D010212:Papilloma / Q000209:etiology* / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000150:complications*