Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1996 Sep;61(3):318–320. doi: 10.1136/jnnp.61.3.318

Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.

G Kempermann 1, H P Neumann 1, R Scheremet 1, B Volk 1, W Mann 1, J Gilsbach 1, R Laszig 1
PMCID: PMC486560  PMID: 8795608

Abstract

A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histological appearance, immunocytochemical findings, and the clinical context gave evidence that the tumours had to be reclassified as endolymphatic sac tumours--extremely rare entities. The report supports the hypothesis, suggested by the few earlier case reports, that endolymphatic sac tumours could be one of the inherent tumour manifestations in von Hippel-Lindau syndrome.

Full text

PDF

Images in this article

319Image
on p.319

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J. R., Orcutt M. L., Duh F. M., Glenn G. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat. 1995;5(1):66–75. doi: 10.1002/humu.1380050109. [DOI] [PubMed] [Google Scholar]
  2. Delisle M. B., Uro E., Rouquette I., Yardeni E., Rumeau J. L. Papillary neoplasm of the endolymphatic sac in a patient with von Hippel-Lindau disease. J Clin Pathol. 1994 Oct;47(10):959–961. doi: 10.1136/jcp.47.10.959. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Gaffey M. J., Mills S. E., Boyd J. C. Aggressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease. Am J Surg Pathol. 1994 Dec;18(12):1254–1260. doi: 10.1097/00000478-199412000-00009. [DOI] [PubMed] [Google Scholar]
  4. Hassard A. D., Boudreau S. F., Cron C. C. Adenoma of the endolymphatic sac. J Otolaryngol. 1984 Aug;13(4):213–216. [PubMed] [Google Scholar]
  5. Heffner D. K. Low-grade adenocarcinoma of probable endolymphatic sac origin A clinicopathologic study of 20 cases. Cancer. 1989 Dec 1;64(11):2292–2302. doi: 10.1002/1097-0142(19891201)64:11<2292::aid-cncr2820641119>3.0.co;2-#. [DOI] [PubMed] [Google Scholar]
  6. Latif F., Tory K., Gnarra J., Yao M., Duh F. M., Orcutt M. L., Stackhouse T., Kuzmin I., Modi W., Geil L. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317–1320. doi: 10.1126/science.8493574. [DOI] [PubMed] [Google Scholar]
  7. Li J. C., Brackmann D. E., Lo W. W., Carberry J. N., House J. W. Reclassification of aggressive adenomatous mastoid neoplasms as endolymphatic sac tumors. Laryngoscope. 1993 Dec;103(12):1342–1348. doi: 10.1288/00005537-199312000-00004. [DOI] [PubMed] [Google Scholar]
  8. Lo W. W., Applegate L. J., Carberry J. N., Solti-Bohman L. G., House J. W., Brackmann D. E., Waluch V., Li J. C. Endolymphatic sac tumors: radiologic appearance. Radiology. 1993 Oct;189(1):199–204. doi: 10.1148/radiology.189.1.8372194. [DOI] [PubMed] [Google Scholar]
  9. Neumann H. P. Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. Vasa. 1987;16(3):220–226. [PubMed] [Google Scholar]
  10. Neumann H. P., Berger D. P., Sigmund G., Blum U., Schmidt D., Parmer R. J., Volk B., Kirste G. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med. 1993 Nov 18;329(21):1531–1538. doi: 10.1056/NEJM199311183292103. [DOI] [PubMed] [Google Scholar]
  11. Neumann H. P., Lips C. J., Hsia Y. E., Zbar B. Von Hippel-Lindau syndrome. Brain Pathol. 1995 Apr;5(2):181–193. doi: 10.1111/j.1750-3639.1995.tb00592.x. [DOI] [PubMed] [Google Scholar]
  12. Neumann H. P., Wiestler O. D. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet. 1991 May 4;337(8749):1052–1054. doi: 10.1016/0140-6736(91)91705-y. [DOI] [PubMed] [Google Scholar]
  13. Poe D. S., Tarlov E. C., Thomas C. B., Kveton J. F. Aggressive papillary tumors of temporal bone. Otolaryngol Head Neck Surg. 1993 Jan;108(1):80–86. doi: 10.1177/019459989310800112. [DOI] [PubMed] [Google Scholar]
  14. Resche F., Moisan J. P., Mantoura J., de Kersaint-Gilly A., Andre M. J., Perrin-Resche I., Menegalli-Boggelli D., Lajat Y., Richard S. Haemangioblastoma, haemangioblastomatosis, and von Hippel-Lindau disease. Adv Tech Stand Neurosurg. 1993;20:197–304. doi: 10.1007/978-3-7091-6912-4_6. [DOI] [PubMed] [Google Scholar]
  15. Seizinger B. R., Rouleau G. A., Ozelius L. J., Lane A. H., Farmer G. E., Lamiell J. M., Haines J., Yuen J. W., Collins D., Majoor-Krakauer D. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17;332(6161):268–269. doi: 10.1038/332268a0. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES