Hostname: page-component-76fb5796d-vvkck Total loading time: 0 Render date: 2024-04-26T13:14:09.142Z Has data issue: false hasContentIssue false

Von Hippel-Lindau disease associated with an invasive choroid plexus tumour presenting as a middle ear mass

Published online by Cambridge University Press:  29 June 2007

T. L. Blamires*
Affiliation:
Departments of Ophthalmology, Addenbrooke's Hospital, Cambridge.
I. Friedmann
Affiliation:
Department of Pathology, North wick Park Hospital, Middlesex.
D. A. Moffat
Affiliation:
Department of Otoneurosurgery, Addenbrooke's Hospital, Cambridge.
*
Mrs Trudi Blamires, F.R.C.S., 4 Hinton Avenue, Cambridge, CB1 4AS.

Abstract

Cerebellar haemangioblastomata and angiomata of the retina are the most common vascular tumours seen in von Hippel-Lindau disease. A definite association between this condition and choroid plexus tumour has not been described previously and its presentation as a middle ear mass is unique.

Type
Clinical Records
Copyright
Copyright © JLO (1984) Limited 1992

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Amoils, S. P., Smith, T. R. (1969) Cryotherapy of angiomatosis retinae. Archives of Ophthalmology, 81: 689691.CrossRefGoogle ScholarPubMed
Blamires, T. L., Maher, E. R. (1992) Choroid plexus papilloma: A new presentation of von Hippel-Lindau (VHL) disease. Eye 6 Part 1: 9092.Google ScholarPubMed
Coakham, H. B., Garson, J. A., Allan, P. M., Harper, E. I., Brownell, B., Kemstead, J. T., Lane, E. B. (1985) Immunohistological diagnosis of central nervous system tumours using a monoclonal antibody panel. Journal of Clinical Pathology, 38: 165173.CrossRefGoogle ScholarPubMed
Coffin, C. M., Wick, M. R., Braun, J. T., Dehner, L. P. (1986) Choroid plexus neoplasms. Clinico- pathologic and immunohistochemical studies. American Journal of Surgical Pathology, 10 (6): 394404.CrossRefGoogle Scholar
Cruz-Sanchez, F. E, Rossi, M. L., Hughes, J. T., Coakham, H. B., Figols, J., Eynaud, P. M. (1989) Choroid plexus papilloma: An immuno-histological study of 16 cases. Histopathology, 15: 6169.CrossRefGoogle Scholar
Decker, H.-J. H., Neumann, H. P. H., Walter, T. A., Sandberg, A. A. (1988) 3p involvement in a renal cell carcinoma in von Hippel-Lindau syndrome. Cancer Genetics Cytogenetics, 33: 5965.CrossRefGoogle Scholar
Doglioni, C., Dell-orto, P., Coggi, G., Iuzzololino, P., Bontempini, L., Viale, G. (1987) Choroid plexus tumours: An immuno-cytochemical study with particular reference to the coexpression of intermediate filament proteins. American Journal of Pathology, 127 (no. 3): 519529.Google Scholar
Gaffey, M. J., Mills, S. E., Fechner, R. E., Intemann, S. R., Wick, M. R. (1988) Aggressive papillary middle-ear tumor. A clinicopathologic entity distinct from middle-ear adenoma. American Journal of Surgical Pathology, 12(10): 790797.CrossRefGoogle ScholarPubMed
Goldberg, M. E, Duke, J. R. (1968) Von Hippel-Lindau disease. Histopathologic findings in a treated and untreated eye. American Journal of Ophthalmology, 66(4): 693705.CrossRefGoogle Scholar
Goldberg, M. E, Koenig, S. (1974) Argon laser treatment of von Hippel-Lindau retinal angiomas. 1. Clinical and angiographic findings. 2. Histopathology of treated lesions. Archives of Ophthalmology, 92: 121130.CrossRefGoogle Scholar
Green, J. S., Bowmer, M. I., Johnson, G. J. (1986) Von Hippel- Lindau disease in a Newfoundland kindred. Canadian Medical Association Journal, 134: 133146.Google Scholar
Heffner, D. K. (1989) Low-grade adenocarcinoma of probable endolymphatic sac origin. Cancer, 64: 22922302.3.0.CO;2-#>CrossRefGoogle ScholarPubMed
Huson, S. M., Harper, P. S., Hourihan, M. D., Cole, G., Weeks, R. D., Compston, D. A. S. (1986) Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain, 109: 12971310.CrossRefGoogle ScholarPubMed
King, C. R., Schinke, R. N., Arthur, T., Davoren, B., Collins, D. (1987) Proximal 3p deletion in renal cell carcinoma cells from a patient with von-Hippel Lindau. Cancer Genetics Cytogenetics, 27: 345348.CrossRefGoogle ScholarPubMed
Kuhlman, J. K., Fishman, E. K., Marshall, F. E., Siegelman, S. S. (1987) CT diagnosis of unsuspected von Hippel-Lindau disease. Urology, 30(5): 505508.CrossRefGoogle ScholarPubMed
Lauritsen, J. G. (1973) Lindau's disease. Ada Chirurgica Scandanavia, 139: 482486.Google ScholarPubMed
Malek, R. S., Omess, P. J., Benson, R. C., Zincke, H. (1987) Renal cell carcinoma in von Hippel-Lindau syndrome. American Journal of Medicine, 82: 236238.CrossRefGoogle ScholarPubMed
Naguib, M. G., Chou, S. N., Mastri, A. (1981) Radiation therapy of a choroid plexus of the cerbellopontine angle with bone involvement. Journal of Neurosurgery, 54: 245247.CrossRefGoogle Scholar
Neumann, H. P. H. (1987a) Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. VASA. Band 16 Heft, 3: 220236.Google Scholar
Neumann, H. P. H. (1987 b) Prognosis of von Hippel-Lindau syndrome. VASA Band 16 Heft, 4: 309312.Google Scholar
Neumann, H. P. H., Schempp, W., Weinker, T. F. (1988) High resolution chromosome banding and fragile site studies in von Hippel-Lindau syndrome. Cancer Genetics Cytogenetics, 31: 4146.CrossRefGoogle ScholarPubMed
Neumann, H. P. H., Eggert, H. R., Weigert, K., Friedberg, H., Weistler, O. D., Schollmeyer, P. (1989) Haemangioblastomas of the central nervous system. Journal of Neurosurgery, 70: 2430.CrossRefGoogle ScholarPubMed
Palmer, J. M., Coker, N. J., Harper, R. L. (1989) Papillary adenoma of the temporal bone in von Hippel-Lindau disease. Otolaryngology, Head and Neck Surgery, 100(1): 6468.CrossRefGoogle ScholarPubMed
Ramsey, J. A., Asa, S. L., van Nostrand, A. W. P., Hassaram, S. T, de Harvin, E. P. (1987) Lipid degeneration in phaeochromatosis mimicking adrenal cortical tumours. American Journal of Surgical Pathology, 11(60): 480486.CrossRefGoogle Scholar
Ridley, M., Green, J., Johnson, G. (1986) Retinal angiomatosis: The ocular manifestations of von Hippel-Lindau disease. Canadian Journal of Ophthalmology, 21(7): 276283.Google ScholarPubMed
Schmidt, D., Neumann, H. P. H. (1987) Atypische retinal Veranderung bei von Hippel-Lindau Syndrom. Fortschr Ophthalmol, 84: 187189.Google Scholar
Seizinger, B. R., Rouleau, G. A., Ozelius, L. J., Lane, A. H., Fanner, G. E., Lamiell, J. M., Haines, J., Yuen, J. W. M., Collins, D., Majoor-Krakauer, D., Bonner, T., Mathew, C., Rubenstein, A., Halperin, J., McConkie-Rosell, A., Green, J. S., Trofatter, J. A., Ponder, B. A., Eierman, L., Bowmer, M. I., Schimke, R., Oostra, B., Aronin, N., Smith, D. I., Drabkin, H., Waziri, M. H., Hobbs, W. J., Martuza, R. L., Conneally, P. M, Hsia, Y. E., Gusella, J. F. (1988) Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Letters to Nature, 332: 268.CrossRefGoogle Scholar
Van der Hoeve, J. (1932) The Doyne Memorial Lecture: Eye symptoms in phakomatoses. Transactions of the Ophthalmological Society of the United Kingdom, 52: 381401.Google Scholar
Watzke, R. C. (1973) Cryotherapy for retinal angiomatois: A clinico-pathologic report. Documenta Ophthalmologica, 34: 405411.CrossRefGoogle ScholarPubMed
Welch, R. B. (1970) Von Hippel-Lindau Disease: The recognition and treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy. Transactions American Ophthalmological Society, 68: 367424.Google ScholarPubMed
Whitson, J. T., Welch, R. B., Green, R. (1986) Von Hippel-Lindau disease: A case report of a patient with spontaneous regression of a retinal angioma. Retina, 6: 253259.CrossRefGoogle ScholarPubMed
Zbar, B., Brauch, H., Talmadge, C., Lineham, M. (1987) Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Letters to Nature, 327: 721.CrossRefGoogle ScholarPubMed