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.
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Blamires, T., Maher, E. Choroid plexus papilloma. Eye 6, 90–92 (1992). https://doi.org/10.1038/eye.1992.18
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DOI: https://doi.org/10.1038/eye.1992.18
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