The diagnosis and management of neurofibromatosis 2 in childhood

Seminars in Pediatric Neurology

Volumn 5, Issue 4, 1998, Pages 243-252

  Maccollin, M ^a   Mautner, V F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AUTOSOMAL DOMINANT DISORDER; CHILD; CHILDHOOD DISEASE; DIFFERENTIAL DIAGNOSIS; FOLLOW UP; HUMAN; MOLECULAR GENETICS; NERVOUS SYSTEM TUMOR; NEURILEMOMA; NEUROFIBROMATOSIS; PATIENT COUNSELING; REVIEW;

EID: 0032421712     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1071-9091(98)80003-X     Document Type: Article

References (43)

1. Bassoe P Nuzum F Report of a case of central and peripheral neurofibromatosis J Nerv Ment Dis 42 1915 785 796
2. Rodriguez H Berthrong M Multiple primary intracranial tumors in von Recklinghausen's neurofibromatosis Arch Neurol 14 1966 467 475
3. Lee DK Abbott ML Familial central nervous system neoplasia: Case report of a family with von Recklinghausen's neurofibromatosis Arch Neurol 20 1969 154 160
4. Argenyi ZB Thieberg MD Hayes CM Primary cutaneous meningioma associated with von Recklinghausen's disease J Cutan Pathol 21 1994 549 556
5. Gardner W Frazier C Bilateral acoustic neurofibromas Archieves of Neurology and Psychiatry 23 1929 266 302
6. Kanter WR Eldridge R Fabricant R Central neurofibromatosis with bilateral acoustic neuroma: Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis Neurology 30 1980 851 859
7. Mulvihill JJ Parry DM Sherman JL NIH conference: Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): An update Ann Intern Med 113 1990 39 52
8. Gutmann D Aylsworth A Carey J The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 JAMA 278 1997 51 57
9. Viskochil D Buchberg AM Xu G Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus Cell 62 1990 187 192
10. Wallace W Marchuk D Andersen L Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients Science 249 1990 181 186
11. [published erratum appears in Cell 1993 Nov 19;75(4):826] Trofatter JA MacCollin MM Rutter JL A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor Cell 72 1993 791 800
12. Rouleau GA Merel P Lutchman M Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 Nature 363 1993 515 521
13. Mautner VF Tatagiba M Guthoff R Neurofibromatosis 2 in the pediatric age group Neurosurgery 33 1993 92 96
14. Evans DG Huson SM Donnai D A clinical study of type 2 neurofibromatosis Q J Med 84 1992 603 618
15. Parry DM Eldridge R Kaiser-Kupfer MI Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity Am J Med Genet 52 1994 450 461
16. Mautner VF Lindenau M Baser M The neuroimaging and clinical spectrum of neurofibromatosis 2 Neurosurgery 38 1996 880 886
17. Sobel RA Vestibular (acoustic) schwannomas: Histologic features in neurofibromatosis 2 and in unilateral cases J Neuropathol Exp Neurol 52 1993 106 113
18. Louis DN Ramesh V Gusella JF Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors Brain Pathology 5 1995 163 172
19. Halliday A Sobel R Martuza R Benign spinal nerve sheath tumors: Their occurrence spoadically and in neurofibromatosis types 1 and 2 J Neurosurg 74 1991 248 253
20. Mautner VF Lindenau M Baser M Skin abnormalities in neurofibromatosis 2 Arch Dermatol 133 1997 1539 1543
21. Mautner VF Tatagiba M Lindenau M Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety AJR Am J Roentgenol 165 1995 951 955
22. Bouzas EA Parry DM Eldridge R Visual impairment in patients with neurofibromatosis 2 Neurology 43 1993 622 623
23. Ragge NK Baser ME Klein J Ocular abnormalities in neurofibromatosis 2 Am J Ophthalmol 120 1995 634 641
24. Rodgers N Brand C Acoustic neuroma and the eye Br J Neurosurg 11 1997 292 297
25. Gusella J Ramesh V MacCollin M Neurofibromatosis 2: Loss of merlin's protective spell Curr Opin Genet Dev 6 1996 87 92
26. Pulst SM Rouleau GA Marineau C Familial meningioma is not allelic to neurofibromatosis 2 Neurology 43 1993 2096 2098
27. Stangl A Wellenreuther R Lenartz D Clonality of multiple meningiomas J Neurosurg 86 1997 853 858
28. Jacoby LB Jones D Davis K Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis Am J Hum Genet 61 1997 1293 1302
29. Bourn D Carter SA Evans DG A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals Am J Hum Genet 55 1994 69 73
30. Evans DGR Trueman L Wallace A Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutation J Med Genet 35 1998 450 455
31. Evans DG Huson SM Donnai D A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity J Med Genet 29 1992 841 846
32. Eldridge R Parry D Vestibular schwannoma (acoustic neuroma): Consensus development conference Neurosurgery 30 1992 962 964
33. Tsukita S Yonemura S Tsukita S ERM (ezrin/radixin/moesin) family: From cytoskeleton to signal transduction Curr Opin Cell Biol 9 1997 70 75
34. MacCollin M Ramesh V Jacoby LB Mutational analysis of patients with neurofibromatosis 2 Am J Hum Genet 55 1994 314 320
35. Parry D MacCollin M Kaiser-Kupfer M Germline mutations in the neurofibromatosis 2 (NF2) gene: Correlations with disease severity and retinal abnormalities Am J Hum Genet 59 1996 529
36. Kluwe L Bayer S Baser M Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes Hum Genet 98 1996 534 538
37. Nadol JB Jr Chiong CM Ojemann RG Preservation of hearing and facial nerve function in resection of acoustic neuroma Laryngoscope 102 1992 1153 1158
38. Briggs RJ Brackmann DE Baser ME Comprehensive management of bilateral acoustic neuromas Arch Otolaryngol Head Neck Surg 120 1994 1307 1314
39. Samii M Matthies C Tatagiba M Management of vestibular schwannomas (acoustic neuromas): Auditory and facial nerve function after resection of 120 vestibular schwannomas in patients with neurofibromatosis 2 Neurosurgery 40 1997 696 706
40. Otto S Shannon R Brackmann D The multichannel auditory brainstem implant: Performance of 20 patients J Otolaryngol Head Neck Surg 118 1998 291 303
41. Matsuda Y Kawamoto K Kiya K Antitumor effects of antiprogesterones on human meningioma cells in vitro and in vivo J Neurosurg 80 1994 527 534
42. Yazaki T Takamiya Y Costello P Inhibition of angiogenesis and growth of non-malignant and malignant meningiomas by TNP-470 J Neurooncol 23 1995 23 29
43. Schrell U Rittig M Anders M Hydroxyurea for treatment of unresectable and recurrent meningiomas. II: Decrease in the size of meningimoas in patients treated with hydroxyurea J Neurosurg 86 1997 840 844