Hostname: page-component-7c8c6479df-fqc5m Total loading time: 0 Render date: 2024-03-29T05:48:51.168Z Has data issue: false hasContentIssue false

Type 2 neurofibromatosis: the need for supraregional care?

Published online by Cambridge University Press:  29 June 2007

D. Gareth R. Evans*
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester
Richard Ramsden
Affiliation:
Department of Otolaryngology, Manchester Royal Infirmary, Manchester;
Susan M. Huson
Affiliation:
Department of Medical Genetics, Churchill Hospital, Oxford.
Rodney Harris
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester
Richard Lye
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary, Manchester;
Tom T. King
Affiliation:
Department of Neurosurgery, London Hospital, Whitechapel, London.
*
Dr D. G. R. Evans, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH.

Abstract

The results of a U.K. study of 145 cases of type 2 neurofibromatosis has shown generally very poor operative results in terms of hearing and facial nerve preservation. Only 9 out of 118 vestibular schwannoma (acoustic neuroma) operations resulted in any clinically detectable hearing preservation and only 32 left the patient with good or normal (House grade I or II) ipsilateral facial nerve function. Although operation is still the definitive treatment of vestibular schwannoma (acoustic neuroma) and may be a lifesaving procedure, it appears that the evidence in favour of early operation is only valid when carried out in highly specialized centres. The special problems of NF2 cases who may go on to develop multiple spinal and cranial tumours making them wheelchair bound and blind as well as deaf warrants a careful experienced approach. Timing of operations may be critical for the enhancement of useful years of quality life. We therefore propose the setting up of a national NF2 register, with the management of cases at a few supraregional centres.

Type
Main Articles
Copyright
Copyright © JLO (1984) Limited 1993

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

Baldwin, D., King, T. T., Chevretton, E., Morrison, A. W. (1991) Bilateral cerebellopontine angle tumours in neurofibromatosis type 2. Journal of Neurosurgery 74: 910915CrossRefGoogle ScholarPubMed
Bini, W., Samii, M., Tatagiba, M., Matthies, C. (1991) The lateral suboccipital or retrosigmoid approach for acoustic neuroma surgery, NIH Consensus Development Conference, p. 8385Google Scholar
Cushing, H. (1917) Tumours of the nervus acusticus and the syndrome of the cerebellopontile angle. W. B. Saunders Philadelphia.Google Scholar
Dutton, J. E. M, Ramsden, R. T., Lye, R. H., Morris, K., Keith, A. O., Page, R., Vafidis, J. (1991) Acoustic neuroma (schwannoma) surgery. Journal of Laryngology and Otology 105: 165173CrossRefGoogle ScholarPubMed
Elliot, F. A., McKissock, W. (1954) Acoustic neuroma, Lancet ii: 11891191CrossRefGoogle Scholar
Evans, D. G. R., Huson, S., Donnai, D., Neary, W., Blair, V., Teare, D., Newton, V., Strachan, T., Harris, R. (1992 a) A genetic study of type 2 neurofibromatosis in the north west of England and the UK: prevalence, mutation rates, fitness and confirmation of maternal gene effect, Journal of Medical Genetics 29: 841846CrossRefGoogle Scholar
Evans, D. G. R., Huson, S., Donnai, D., Neary, W., Blair, V, Newton, V., Harris, R. (1992 b) A clinical study of type 2 neurofibromatosis, Quarterly Journal of Medicine 84: 603618Google ScholarPubMed
Gardner, W. J., Frazier, C. H. (1930) Bilateral acoustic neurofibromas: a clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members. Archives of Neurology and Psychiatry 23: 266302CrossRefGoogle Scholar
Glasscock, M. E. (1979) Preservation of hearing in acoustic tumour surgery. In Middle fossa technique: Neurologic surgery of the ear. Ascalapius publishing Co, Birmingham, Alabama, p. 284286Google Scholar
Glasscock, M. E., McKennan, K. X., Levine, S. C. (1987) Acoustic neuroma surgery: the results of hearing conservation surgery, Laryngoscope 97: 785789CrossRefGoogle ScholarPubMed
Henneberg, A., Koch, M. (1902) Ueber centrale Neurofibromatose und die Geschwulste des Kleinhirnbruckenwinkels (acusticusneurome). Archiv. für Psychiatry 36: 251304CrossRefGoogle Scholar
Henschen, F. (1915) Zur Histologie und Pathogenese der Kleinhirnbrucken- winkeltumoren. Archiv. für Psychiatry Nervenkr 56: 21122Google Scholar
Hinton, A. E., Ramsden, R. T., Lye, R. H., Dutton, J. E. M. (1992) Hearing preservation in acoustic neuroma surgery: how useful is it? Proceedings of First International Conference on Acoustic Neuroma. Almstelveen: Kugler Publications (in press).Google Scholar
Hitselberger, W. E., Hughes, R. L. (1968) Bilateral acoustic tumours and neurofibromatosis. Archives of Otolaryngology 88: 700711CrossRefGoogle Scholar
House, J. W., Brackmann, D. E. (1985) Facial nerve grading system. Otolaryngology Head and Neck Surgery 93: 146147CrossRefGoogle ScholarPubMed
Hughes, G. B., Sismanis, A., Glasscock, M. E., Hays, J. W., Jackson, C. G. (1982) Management of bilateral acoustic tumours, Laryngoscope 92: 13521359CrossRefGoogle Scholar
Kaiser-Kupfer, M. I., Freidlin, V., Datiles, M. B., Eldridge, R. (1989) The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Archives of Ophthalmology 107: 541544CrossRefGoogle ScholarPubMed
Kanter, W. R., Eldridge, R., Fabricant, R., Allen, J. C, Koerber, T. (1980) Central neurofibromatosis with bilateral acoustic neuroma: Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30: 851859CrossRefGoogle ScholarPubMed
Linfhicum, F. H. Jr, (1972) Unusual audiometric and histologie findings in bilateral acoustic neurinomas. Annals of Otology Rhinology and Laryngology 81: 433437CrossRefGoogle Scholar
National Institute of Health Consensus Development Conference: Neurofibromatosis Conference Statement, (1988) Archives Neurology 45: 575578CrossRefGoogle Scholar
National Institute of Health Consensus Development Conference, (1990) Neurofibromatosis 1 (von Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). Annals of Internal Medicine 113: 3952CrossRefGoogle Scholar
Officiers, F. E., Forton, G., Marquet, J. F. E. (1992) Preservation of hearing in acoustic neuroma: a myth. Proceedings of the First International Conference on Acoustic Neuroma, Amstelveen: Kugler Publications (in press).Google Scholar
Rouleau, G., Seizinger, B. R., Wertelecki, W., Haines, J. L., Superneau, D. W., Martuza, R. L., Gusella, J. F. (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329: 246248CrossRefGoogle ScholarPubMed
Samii, M., Turel, K. E., Penkert, G. (1985) Management of seventh and eighth nerve involvement by cerebellopontine angle tumours. Clinical Neurosurgery 32: 242272.Google Scholar
Sanna, M., Zini, C, Landolfi, M., Piazza, F. (1992) Hearing preservation critical revision of the literature. Proceedings of First International Conference on Acoustic Neuroma. Amstelveen:Kugler Publications (in press).Google Scholar
Seizinger, B. R., Rouleau, G. A., Ozelius, L. G., Lane, A. H., Faryniarz, A. G., Chao, M. V., Huson, S., Korf, B. R., Parry, D. M., Pericak-Vance, M. A., Collins, F. S., Hobbs, W. J., Falcone, B. G., Ianazzi, J. A., Roy, J. C, St George-Hyslop, P. H., Tanzi, R. E., Bothwell, M. A., Upadhyaya, M., Harper, P. S., Goldstein, A. E., Hoover, D. L., Bader, J. L., Spence, M. A., Mulvihill, J. J., Aylesworth, A. S., Vance, J. M., Rossenwasser, G. O. D., Gaskell, P. C, Roses, A. D., Martuza, R. L., Breakfield, X. O., Gusella, J. F. (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589594CrossRefGoogle Scholar
Thomsen, J., Tos, M. (1991) Surgical options in acoustic neuroma treatment: The translabarynthine approach. NIH Consensus Development Conference, p. 7881Google Scholar
Wiegand, D. A., Fickel, V. (1989) Acoustic neuroma-the patient's perspective: subjective assessment of symptoms. Diagnosis, therapy and outcome in 541 patients. Laryngoscope 99: 179187CrossRefGoogle ScholarPubMed
Wishart, J. H. (1820) Case of tumours in the skull, dura mater, and brain. Edinburgh Medical and Surgical Journal 18: 393397.Google Scholar
Young, P. F, Eldridge, R., Nager, G. T., Deland, F. H., McNew, J. (1971) Hereditary bilateral acoustic neuroma (central neurofibromatosis). Birth Defects OAS 7: 7386Google Scholar