Hostname: page-component-cd9895bd7-jkksz Total loading time: 0 Render date: 2024-12-27T07:15:42.188Z Has data issue: false hasContentIssue false
  • English
  • Français

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

Published online by Cambridge University Press:  29 June 2007

W. J. Neary ,
V. E. Newton ,
S. N. Laoide-Kemp ,
R. T. Ramsden ,
G. Griffith ,
D. G. Evans ,
R. Harris  and
T. Strachan
W. J. Neary
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology (CAEDSP), University of Manchester, UK
V. E. Newton
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology (CAEDSP), University of Manchester, UK
S. N. Laoide-Kemp
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology (CAEDSP), University of Manchester, UK
R. T. Ramsden
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, Manchester Royal Infirmary, UK
G. Griffith
Affiliation:
Manchester Royal Eye Hospital, St Mary's Hospital, Manchester, UK
D. G. Evans
Affiliation:
Department of Clinical Genetics, St Mary's Hospital, Manchester, UK
R. Harris
Affiliation:
Department of Clinical Genetics, St Mary's Hospital, Manchester, UK
T. Strachan
Affiliation:
Department of Human Geneticstt, University of Newcastle-upon-Tyne, UK
Get access Rights & Permissions [Opens in a new window]

Abstract

Ninety-three patients with unilateral vestibular schwannomas were examined in a clinical, genetic and audiological study, to determine whether they had features associated with neurofibromatosis Type 1 or neurofibromatosis Type 2. In 91 families, one patient only was found to be affected with a unilateral vestibular schwannoma. Patients did have a few café-au-lait macules, but fewer than six in number. None of the patients satisfied the cutaneous diagnostic criteria for neurofibromatosis Type 1. Neither Lisch nodules nor presenile posterior subcapsular lenticular opacities or cortical opacities were a feature. Five patients with unilateral vestibular schwannomas are described where the clinical findings raised the possibility of neurofibromatosis Type 2. It is suggested that certain individuals with unilateral vestibular schwannomas are at risk of developing neurofibromatosis Type 2. Furthermore, the possibility of neurofibromatosis Type 2 should be considered if more than one individual in a family is found to be affected with a unilateral vestibular schwannoma.

Keywords

Schwannoma, vestibularNeurofibromatosis Type 1Neurofibromatosis Type 2Genetics
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 110 , Issue 7 , July 1996 , pp. 634 - 640
Copyright
Copyright © JLO (1984) Limited 1996

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

Barker, V., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Waye, J. S., Greig, G., Leinwand, L., Nakamura, Y., O'Connell, P., Leppert, M., Lalouel, J. M., White, R., Skolnick, M. (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236: 1100–1102.Google Scholar
Chiveralls, K. (1977) A further examination of the use of the stapedius reflex in the diagnosis of acoustic neuroma. Audiology 16: 331–337.CrossRefGoogle ScholarPubMed
Crowe, F. W., Schull, W. J., Neel, J. V. (1956) In: A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis.Charles C. Thomas, Springfield, Illinois, p15.Google Scholar
Evans, D. G.R., Huson, S. M., Donnai, D., Neary, W., Blair, V., Teare, D., Newton, V., Strachan, T., Ramsden, R., Harris, R. (1992a) A genetic study of Type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. Journal of Medical Genetics 29: 841–846.Google Scholar
Evans, D. G. R., Huson, S. M., Donnai, D., Neary, W., Blair, V., Newton, V., Harris, R. (1992 b) A clinical study of Type 2 neurofibromatosis. Quarterly Journal of Medicine 304: 603–618.Google Scholar
Evans, D. G. R., Ramsden, R., Huson, S. M., Harris, R., Lye, R., King, T. T. (1993) Type 2 neurofibromatosis: the need for supraregional care? Journal of Laryngology and Otology 107: 401–406.Google Scholar
Guyot, J. P., Hausler, R., Reverdin, A., Berney, J., Montandon, P. B. (1992) The Value of Otoneurologic Diagnostic Procedures Compared with Radiological and Operative Findings. Proceedings of the First International Conference on Acoustic Neuroma. Copenhagen, Denmark,Kugler Publications, Amsterdam/New York, pp31–37.Google Scholar
Hart, R. G., Davenport, J. (1981) Diagnosis of acoustic neuroma. Neurosurger 9: 4.Google Scholar
Henschen, J. (1910) Uber Geschwulste der Hinteren Schadelgrube, Insbesondere des Kleinhirnbruckenwinkels. Jena, Gustav Fischer, p 283.Google Scholar
Henschen, J. (1915) Zur histologie und pathogenese der kleinhirnbruckenwinkeltumoren. Archives of Psychiatry 56: 21.Google Scholar
Huson, S. M., Jones, J., Beck, L. (1987) Ophthalmic manifestations of von Recklinghausen neurofibromatosis. British Journal of Ophthalmology 71: 235–238.Google Scholar
Jewett, J., Romano, M., Williston, J. (1970) Human auditory evoked potentials: possible brain stem components detected on the scalp. Science 167: 1517–1518.CrossRefGoogle ScholarPubMed
Kaiser-Kupfer, M. I., Freidlin, V., Dantiles, M. B., Edwards, P. A., Sherman, J. L., Parry, D., McCain, L. M., Eldridge, R. (1989) The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis Type 2. Archives of Ophthalmology 107: 541–544.Google Scholar
Kanter, W. R., Eldridge, J., Fabricant, R., Allen, J. C, Koerber, T. (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30: 851–859.CrossRefGoogle ScholarPubMed
King, T. T., Gibson, J. P. R., Morrison, A. W. (1976) Tumours of the Vlllth cranial nerve. British Journal of Hospital Medicine 16: 259–272.Google Scholar
Lanser, M. J., Sussman, J. A., Frazer, K. (1992) Epidemiology, pathogenesis and genetics of acoustic tumors. Otolaryngologic Clinics of North America 25: 499–520.CrossRefGoogle ScholarPubMed
Martuza, R. L., Eldridge, J. (1988) Neurofibromatosis Type 2 (bilateral acoustic neurofibromatosis). New England Journal of Medicine 318: 684–688.CrossRefGoogle ScholarPubMed
National Institutes of Health Consensus Development Conference. Neurofibromatosis Conference Statement (1988) Archives of Neurology 45: 575–578.Google Scholar
Neary, W. J., Newton, J. E., Vidler, M., Rarnsden, R. T., Lye, R. H., Dutton, J. E. M., Richardson, P. L., Harris, R., Evans, D. G. (1993) A elinical genetic and audiological study of patients and families with bilateral acoustic neurofibfomatosis. Journal of Laryngology and Otology 107: 6–11.CrossRefGoogle Scholar
Parry, D. M., Eldridge, J. (1992) Neurofibromatosis2: Groups at High Risk. Proceedings of the First International Conference on Acoustic NeuromaCopenhagen, DenmarkKugler Publications, Amsterdam/New York, pp 811–814.Google Scholar
Pearson-Webb, M. A., Kaiser-Kupfer, M. I., Eldridge, R. (1986) Eye findings in bilateral acoustic (central) neurofibromatosis; association with presenile lens opacities and cataracts, but absence of Lisch nodules. New England Journal of Medicine 315: 1553–1554.Google ScholarPubMed
Pool, J. L., Pava, J. A. (1957) cited in Pool, J, L., Pava, A, A., Greenfield, E. C. (1970) Acoustic Nerve Tumors. 2nd Edition. Charles C. Thomas, Springfield, Illinois, p 22.Google Scholar
Pool, J. L., Pava, J. A., Greenfield, E. C. (1970) Acoustic Nerve Tumors. 2nd Edition. Charles C, Thomas, Springfield, Illinois, p 23.Google Scholar
Priede, V. M., Coles, J. R. A. (1976) Speech discrimination tests in investigation of sensorineural hearing loss. Journal of Laryngology and Otology 90: 1081–1092.Google Scholar
Revilla, J. G. (1947) Neurinomas of the cerebellopontine recess. A clinical study of 160 cases including operative mortality and end results. Johns Hopkins Hospital Bulletin 80: 254.Google Scholar
Riccardi, J. M. (1981) Von Recklinghausen neurofibromatosis. New England Journal of Medicine 305: 1617–1627.Google Scholar
Riccardi, V. M., Eichner, J. E. (1986) Neurofibromatosis: Phenotype, Natural History and Pathogenesis, Johns Hopkins University Press, Baltimore, pp 46–50; 58–62; 89–90.Google Scholar
Rosenberg, J. E. (1958) Rapid clinical measurement of tone decay. Paper presented at the American Speech and Hearing Association Convention, New York.Google Scholar
Rouleau, G. A., Wertelecki, J., Haines, J. L., Hobbs, W. J., Trofatter, J. A., Seizinger, B. R., Martuza, R. L., Superneau, D. W., Conneally, P. M., Gusella, J. F. (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329: 246–248.Google Scholar
Rouleau, G. A., Seizinger, J. R., Wertelecki, W., Haines, J. L., Superneau, D. W., Martuza, R. L., Gusella, J. F. (1990) Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. American Journal of Human Genetics 46: 323–328.Google Scholar
Seizinger, B. R., Martuza, J. L., Gusella, J. F. (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322: 644–647.Google Scholar
Seizinger, B. R., Rouleau, J. A., Ozelius, L. J., 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., Iannazzi, J. A., Roy, J. C, St George-Hyslop, P. H., Tanzi, R. E., Bothwell, M. A., Upadhyaya, M., Harper, P., Goldstein, A. E., Hoover, D. L., Bader, J.L., Spence, M. A., Mulvihill, J. J., Aylsworth, A. S., Vance, J. M., Rossenwasser, G. O. D., Gaskell, P. C, Roses, A. D., Martuza, R. L., Breakefield, X. O., Gusella, J. F. (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589–594.Google Scholar
Seizinger, J. R. (1989) Fundamental mechanisms of tumorigenesis in the human nervous system: isolation and characterization of genes associated with hereditary forms of cancer. Clinical Chemistry 35: B25–27.Google Scholar
Selters, W. A., Brackmann, J. E. (1977) Acoustic tumor detection with brain stem electric response audiometry. Archives of Otolaryngology 103: 181–187.Google Scholar
Terkildsen, J., Thomsen, J. (1983) Diagnostic screening for acoustic neuromas. Clinical Otolaryngology 8: 295–296.Google Scholar
Tos, J., Thomsen, J., Charabi, S. (1992) Epidemiology of Acoustic Neuromas: Has the Incidence Increased During the Last Years? Proceedings of the First International Conference on Acoustic NeuromaCopenhagen, DenmarkKugler Publications, Amsterdam/New York, pp 3–6.Google Scholar
Trofatter, J. A., MacCollin, J. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kleys, N., Menon, A. G., Pulaski, K., Haase, V. H., Ambrose, C. M., Munroe, D., Bove, C, Haines, J. L., Martuza, R. L., MacDonald, M. E., Seizinger, B. R., Short, M. P., Buckler, A. J., Gusella, J. F. (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: 791–800.Google Scholar
Viskochil, J., Buchberg, A. M., Xu, G., Cawthon, R. M., Stevens, J., Wolff, R. K., Culver, M., Carey, J. C., Copeland, N. G., Jenkins, N. A., White, R., O'Connell, P. (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187–192.Google Scholar
Woolsey, T. D., Eldred, J. A. (1977) A Summary Report on the Survey of Intracranial Neoplasms. Office of Biometry and Epidemiology, National Institute of Neurological and Communicative Disorders and Stroke. National Institutes of Health, Rockville, M.D., pp 1–28.Google Scholar