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Volumn 44, Issue 4, 2004, Pages

Neuroimaging of phacomatoses;Neuro-imagerie des phacomatoses

Author keywords

Genetic, tumor; Skin, tumor; White matter, tumor

Indexed keywords

ARTERY DYSPLASIA; ASTROCYTOMA; BONE DYSPLASIA; BRAIN AQUEDUCT STENOSIS; BRAIN CALCIFICATION; BRAIN VENTRICLE DILATATION; CAFE AU LAIT SPOT; CENTRAL NERVOUS SYSTEM TUMOR; CLINICAL FEATURE; EPILEPSY; FOLLOW UP; GENETIC ANALYSIS; HAMARTOMA; HEMANGIOBLASTOMA; HEMANGIOFIBROMA; HUMAN; MENINGIOMA; NEURILEMOMA; NEUROFIBROMATOSIS; NEUROFIBROSARCOMA; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; PHAKOMATOSIS; PHEOCHROMOCYTOMA; PROGNOSIS; REVIEW; SCOLIOSIS; SKIN TUMOR; STURGE WEBER SYNDROME; TUBEROUS SCLEROSIS; VON HIPPEL LINDAU DISEASE;

EID: 19544385592     PISSN: 01819801     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0181-9801(04)94751-3     Document Type: Review
Times cited : (8)

References (127)
  • 3
    • 0002839104 scopus 로고
    • Disorders of histogenesis: Neurocutaneous syndromes
    • Mosby-Year Book, Inc
    • Osborn AG. Disorders of histogenesis: neurocutaneous syndromes. In: Diagnostic neuroradiology. Mosby-Year Book, Inc. 1994: 72-113.
    • (1994) Diagnostic Neuroradiology , pp. 72-113
    • Osborn, A.G.1
  • 4
    • 0036700962 scopus 로고    scopus 로고
    • Neurofibromatosis 1: Clinical manifestations and diagnostic criteria
    • Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol 2002; 17: 548-54.
    • (2002) J Child Neurol , vol.17 , pp. 548-554
    • Friedman, J.M.1
  • 6
    • 0035296612 scopus 로고    scopus 로고
    • Diagnosis and management of neurofibromatosis type 1
    • Korf BR. Diagnosis and management of neurofibromatosis type 1. Curr Neurol Neurosci Rep 2001; 1: 162-7.
    • (2001) Curr Neurol Neurosci Rep , vol.1 , pp. 162-167
    • Korf, B.R.1
  • 8
    • 0023885121 scopus 로고
    • Neurofibromatosis
    • National Institutes of Health Consensus Development Conference Statement. Neurofibromatosis. Arch Neurol 1988; 45: 575-8.
    • (1988) Arch Neurol , vol.45 , pp. 575-578
  • 9
    • 0034997932 scopus 로고    scopus 로고
    • Neurofibromatosis type 1. Part I. Clinical and central nervous system manifestations
    • Caldemeyer KS, Mirowski GW. Neurofibromatosis type 1. Part I. Clinical and central nervous system manifestations. J Am Acad Dermatol 2001; 44: 1025-6.
    • (2001) J Am Acad Dermatol , vol.44 , pp. 1025-1026
    • Caldemeyer, K.S.1    Mirowski, G.W.2
  • 10
    • 0029931315 scopus 로고    scopus 로고
    • The management of brainstem gliomas in patients with neurofibromatosis 1
    • Pollack IF, Shultz B, Mulvihill JJ. The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 1996; 46: 1652-60.
    • (1996) Neurology , vol.46 , pp. 1652-1660
    • Pollack, I.F.1    Shultz, B.2    Mulvihill, J.J.3
  • 13
    • 0029122278 scopus 로고
    • Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: Serial contrast MR evaluation
    • Parazzini C, Triulzi F, Bianchini E, Agnetti V, Conti M, Zanolini C et al. Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation. AJNR 1995; 16: 1711-8.
    • (1995) AJNR , vol.16 , pp. 1711-1718
    • Parazzini, C.1    Triulzi, F.2    Bianchini, E.3    Agnetti, V.4    Conti, M.5    Zanolini, C.6
  • 14
    • 0032850847 scopus 로고    scopus 로고
    • Spontaneous improvement of optic pathway lesions in children with neurofibromatosis type 1
    • Rossi LN, Triulzi F, Parazzini C, Maninetti MM. Spontaneous improvement of optic pathway lesions in children with neurofibromatosis type 1. Neuropediatrics 1999; 30: 205-9.
    • (1999) Neuropediatrics , vol.30 , pp. 205-209
    • Rossi, L.N.1    Triulzi, F.2    Parazzini, C.3    Maninetti, M.M.4
  • 16
    • 0036375204 scopus 로고    scopus 로고
    • Optic pathway gliomas in neurofibromatosis type I. Longitudinal study of 30 cases in two multidisciplinary practices
    • Mikaeloff Y, Chaix Y, Grill J, Adamsbaum C, Bursztyn J, Rubie H et al. Optic pathway gliomas in neurofibromatosis type I. Longitudinal study of 30 cases in two multidisciplinary practices. Arch Pediatr 2002; 9: 797-804.
    • (2002) Arch Pediatr , vol.9 , pp. 797-804
    • Mikaeloff, Y.1    Chaix, Y.2    Grill, J.3    Adamsbaum, C.4    Bursztyn, J.5    Rubie, H.6
  • 17
    • 0034526879 scopus 로고    scopus 로고
    • Intra-cranial manifestations of the neurocutaneous syndromes
    • Herron J, Darrah R, Quaghebeur G. Intra-cranial manifestations of the neurocutaneous syndromes. Clin Radiol 2000; 55: 82-98.
    • (2000) Clin Radiol , vol.55 , pp. 82-98
    • Herron, J.1    Darrah, R.2    Quaghebeur, G.3
  • 18
    • 0028307561 scopus 로고
    • Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities
    • North K, Joy P, Yuille D, Cocks N, Mobbs E, Hutchins P et al. Specific learning disability in children with neurofibromatosis type 1: significance of MRI abnormalities. Neurology 1994; 44: 878-83.
    • (1994) Neurology , vol.44 , pp. 878-883
    • North, K.1    Joy, P.2    Yuille, D.3    Cocks, N.4    Mobbs, E.5    Hutchins, P.6
  • 19
    • 0033926242 scopus 로고    scopus 로고
    • Pigmentary disorders: Update on neurofibromatosis-1 and tuberous sclerosis
    • Arbuckle HA, Morelli JG. Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis. Curr Opin Pediatr 2000; 12: 354-8.
    • (2000) Curr Opin Pediatr , vol.12 , pp. 354-358
    • Arbuckle, H.A.1    Morelli, J.G.2
  • 20
    • 0035184431 scopus 로고    scopus 로고
    • Cross-sectional imaging of peripheral nerve sheath tumors: Characteristic signs on CT, MR imaging, and sonography
    • Lin J, Martel W. Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR 2001; 176: 75-82.
    • (2001) AJR , vol.176 , pp. 75-82
    • Lin, J.1    Martel, W.2
  • 21
    • 0031731642 scopus 로고    scopus 로고
    • Neurofibromatosis: A common neurocutaneous disorder
    • Karnes PS. Neurofibromatosis: a common neurocutaneous disorder. Mayo Clin Proc 1998; 73: 1071-6.
    • (1998) Mayo Clin Proc , vol.73 , pp. 1071-1076
    • Karnes, P.S.1
  • 23
    • 0035183901 scopus 로고    scopus 로고
    • Optic pathway glioma: Correlation of imaging findings with the presence of neurofibromatosis
    • Kornreich L, Blaser S, Schwarz M, Shuper A, Vishne TH, Cohen IJ et al. Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. AJNR 2001; 22: 1963-9.
    • (2001) AJNR , vol.22 , pp. 1963-1969
    • Kornreich, L.1    Blaser, S.2    Schwarz, M.3    Shuper, A.4    Vishne, T.H.5    Cohen, I.J.6
  • 24
    • 0035133637 scopus 로고    scopus 로고
    • MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis
    • Chateil JF, Soussotte C, Pedespan JM, Brun M, Le Manh C, Diard F. MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis. Br J Radiol 2001; 74: 24-31.
    • (2001) Br J Radiol , vol.74 , pp. 24-31
    • Chateil, J.F.1    Soussotte, C.2    Pedespan, J.M.3    Brun, M.4    Le Manh, C.5    Diard, F.6
  • 25
    • 0041421100 scopus 로고    scopus 로고
    • Optic pathway gliomas in children with and without neurofibromatosis 1
    • Czyzyk E, Jozwiak S, Roszkowski M, Schwartz RA. Optic pathway gliomas in children with and without neurofibromatosis 1. J Child Neurol 2003; 18: 471-8.
    • (2003) J Child Neurol , vol.18 , pp. 471-478
    • Czyzyk, E.1    Jozwiak, S.2    Roszkowski, M.3    Schwartz, R.A.4
  • 26
    • 0028074590 scopus 로고
    • Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features
    • Lovblad KO, Remonda L, Ozdoba C, Huber P, Schroth G. Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr 1994; 18: 728-30.
    • (1994) J Comput Assist Tomogr , vol.18 , pp. 728-730
    • Lovblad, K.O.1    Remonda, L.2    Ozdoba, C.3    Huber, P.4    Schroth, G.5
  • 27
    • 0031030181 scopus 로고    scopus 로고
    • Brain stem involvement in children with neurofibromatosis type 1: Role of magnetic resonance imaging and spectroscopy in the distinction from diffuse pontine glioma
    • Broniscer A, Gajjar A, Bhargava R, Langsten JW, Heideman R, Jones D et al. Brain stem involvement in children with neurofibromatosis type 1: role of magnetic resonance imaging and spectroscopy in the distinction from diffuse pontine glioma. Neurosurgery 1997; 40: 331-8.
    • (1997) Neurosurgery , vol.40 , pp. 331-338
    • Broniscer, A.1    Gajjar, A.2    Bhargava, R.3    Langsten, J.W.4    Heideman, R.5    Jones, D.6
  • 28
    • 0029432188 scopus 로고
    • Brainstem tumors in patients with neurofibromatosis type 1: A distinct clinical entity
    • Molloy PT, Bilaniuk LT, Vaughan SN, Needle MN, Liu GT, Zackai EH et al. Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. Neurology 1995; 45: 1897-902.
    • (1995) Neurology , vol.45 , pp. 1897-1902
    • Molloy, P.T.1    Bilaniuk, L.T.2    Vaughan, S.N.3    Needle, M.N.4    Liu, G.T.5    Zackai, E.H.6
  • 31
    • 0031890253 scopus 로고    scopus 로고
    • MRI diagnosis of NF-1 in children without cafe-au-lait skin lesions
    • Curless RG, Siatkowski M, Glaser JS, Shatz NJ. MRI diagnosis of NF-1 in children without cafe-au-lait skin lesions. Pediatr Neurol 1998; 18: 269-71.
    • (1998) Pediatr Neurol , vol.18 , pp. 269-271
    • Curless, R.G.1    Siatkowski, M.2    Glaser, J.S.3    Shatz, N.J.4
  • 32
    • 0031912838 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings
    • Menor F, Marti-Bonmati L, Arana E, Poyatos C, Cortina H. Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings. Eur J Radiol 1998; 26: 121-31.
    • (1998) Eur J Radiol , vol.26 , pp. 121-131
    • Menor, F.1    Marti-Bonmati, L.2    Arana, E.3    Poyatos, C.4    Cortina, H.5
  • 33
    • 0035214343 scopus 로고    scopus 로고
    • Non-neoplastic brain abnormalities on MRI in children and adolescents with neurofibromatosis type 1
    • Raininko R, Thelin L, Eeg-Olofsson O. Non-neoplastic brain abnormalities on MRI in children and adolescents with neurofibromatosis type 1. Neuropediatrics 2001; 32: 225-30.
    • (2001) Neuropediatrics , vol.32 , pp. 225-230
    • Raininko, R.1    Thelin, L.2    Eeg-Olofsson, O.3
  • 34
    • 0032231345 scopus 로고    scopus 로고
    • Usefulness of contrast material in MR of patients with neurofibromatosis type 1
    • Bonawitz C, Castillo M, Chin CT, Mukherji SK, Barkovich AJ. Usefulness of contrast material in MR of patients with neurofibromatosis type 1. AJNR 1998; 19: 541-6.
    • (1998) AJNR , vol.19 , pp. 541-546
    • Bonawitz, C.1    Castillo, M.2    Chin, C.T.3    Mukherji, S.K.4    Barkovich, A.J.5
  • 35
  • 36
    • 0029938960 scopus 로고    scopus 로고
    • Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1
    • Terada H, Barkovich AJ, Edwards MS, Ciricillo SM. Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1. AJNR 1996; 17: 755-60.
    • (1996) AJNR , vol.17 , pp. 755-760
    • Terada, H.1    Barkovich, A.J.2    Edwards, M.S.3    Ciricillo, S.M.4
  • 37
    • 2642683203 scopus 로고    scopus 로고
    • Magnetic resonance imaging lesion analysis in neurofibromatosis type 1
    • DiMario FJ Jr, Ramsby G. Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol 1998; 55: 500-5.
    • (1998) Arch Neurol , vol.55 , pp. 500-505
    • DiMario Jr., F.J.1    Ramsby, G.2
  • 38
    • 0028129360 scopus 로고
    • Neurofibromatosis type 1: The evolution of deep gray and white matter MR abnormalities
    • Itoh T, Magnaldi S, White RM, Denckla MB, Hofman K, Naidu S et al. Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR 1994; 15: 1513-9.
    • (1994) AJNR , vol.15 , pp. 1513-1519
    • Itoh, T.1    Magnaldi, S.2    White, R.M.3    Denckla, M.B.4    Hofman, K.5    Naidu, S.6
  • 39
    • 0036700555 scopus 로고    scopus 로고
    • Neurofibromatosis 1: Clinical review and exceptions to the rules
    • Young H, Hyman S, North K. Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol 2002; 17: 613-21.
    • (2002) J Child Neurol , vol.17 , pp. 613-621
    • Young, H.1    Hyman, S.2    North, K.3
  • 40
    • 0026716566 scopus 로고
    • Evolution of white matter lesions in neurofibromatosis type 1: MR findings
    • Sevick RJ, Barkovich AJ, Edwards MS, Koch T, Berg B, Lempert T. Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR 1992; 159: 171-5.
    • (1992) AJR , vol.159 , pp. 171-175
    • Sevick, R.J.1    Barkovich, A.J.2    Edwards, M.S.3    Koch, T.4    Berg, B.5    Lempert, T.6
  • 43
    • 0029890041 scopus 로고    scopus 로고
    • Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis
    • Moore BD, Slopis JM, Schomer D, Jackson EF, Levy BM. Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology 1996; 46: 1660-8.
    • (1996) Neurology , vol.46 , pp. 1660-1668
    • Moore, B.D.1    Slopis, J.M.2    Schomer, D.3    Jackson, E.F.4    Levy, B.M.5
  • 45
    • 0036123636 scopus 로고    scopus 로고
    • Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1
    • Jacquemin C, Bosley TM, Liu D, Svedberg H, Buhaliqa A. Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR 2002; 23: 644-8.
    • (2002) AJNR , vol.23 , pp. 644-648
    • Jacquemin, C.1    Bosley, T.M.2    Liu, D.3    Svedberg, H.4    Buhaliqa, A.5
  • 46
    • 0031049789 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 and type 2: Review of the central nervous system and related structures
    • Inoue Y, Nemoto Y, Tashiro T, Nakayama K, Nakayama T, Daikokuya H. Neurofibromatosis type 1 and type 2: review of the central nervous system and related structures. Brain Dev 1997; 19: 1-12.
    • (1997) Brain Dev , vol.19 , pp. 1-12
    • Inoue, Y.1    Nemoto, Y.2    Tashiro, T.3    Nakayama, K.4    Nakayama, T.5    Daikokuya, H.6
  • 47
    • 0035034266 scopus 로고    scopus 로고
    • Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: Relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities
    • Steen RG, Taylor JS, Langsten JW, Glass JO, Brewer VR, Reddick WE et al. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR 2001; 22: 810-7.
    • (2001) AJNR , vol.22 , pp. 810-817
    • Steen, R.G.1    Taylor, J.S.2    Langsten, J.W.3    Glass, J.O.4    Brewer, V.R.5    Reddick, W.E.6
  • 49
    • 0026645081 scopus 로고
    • Spinal MR findings in neurofibromatosis 1 and neurofibromatosis 2
    • Egelhoff JC, Bates DJ, Ross JS, Rothner AD, Cohen BH. Spinal MR findings in neurofibromatosis 1 and neurofibromatosis 2. AJNR 1992; 13: 1071-7.
    • (1992) AJNR , vol.13 , pp. 1071-1077
    • Egelhoff, J.C.1    Bates, D.J.2    Ross, J.S.3    Rothner, A.D.4    Cohen, B.H.5
  • 50
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278: 51-7.
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3    Korf, B.4    Marks, J.5    Pyeritz, R.E.6
  • 51
    • 0029855567 scopus 로고    scopus 로고
    • Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients
    • Wolkenstein P, Freche B, Zeller J, Revuz J. Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients. Arch Dematol 1996; 132: 1333-6.
    • (1996) Arch Dematol , vol.132 , pp. 1333-1336
    • Wolkenstein, P.1    Freche, B.2    Zeller, J.3    Revuz, J.4
  • 53
    • 0026892095 scopus 로고
    • Radiologic screening in the neurocutaneous syndromes: Strategies and controversies
    • Elster AD. Radiologic screening in the neurocutaneous syndromes: strategies and controversies. AJNR 1992; 13: 1078-82.
    • (1992) AJNR , vol.13 , pp. 1078-1082
    • Elster, A.D.1
  • 57
    • 0029774092 scopus 로고    scopus 로고
    • Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
    • Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M et al. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 1996; 59: 529-39.
    • (1996) Am J Hum Genet , vol.59 , pp. 529-539
    • Parry, D.M.1    MacCollin, M.M.2    Kaiser-Kupfer, M.I.3    Pulaski, K.4    Nicholson, H.S.5    Bolesta, M.6
  • 58
    • 18644371170 scopus 로고    scopus 로고
    • Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
    • Zhao Y, Kumar RA, Baser ME, Evans DG, Wallace A, Kluwe L et al. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol 2002; 23: 245-59.
    • (2002) Genet Epidemiol , vol.23 , pp. 245-259
    • Zhao, Y.1    Kumar, R.A.2    Baser, M.E.3    Evans, D.G.4    Wallace, A.5    Kluwe, L.6
  • 59
    • 19244362433 scopus 로고    scopus 로고
    • Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
    • Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996; 5: 331-42.
    • (1996) Am J Hum Genet , vol.5 , pp. 331-342
    • Ruttledge, M.H.1    Andermann, A.A.2    Phelan, C.M.3    Claudio, J.O.4    Han, F.Y.5    Chretien, N.6
  • 61
    • 0029111478 scopus 로고
    • Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree
    • Sainio M, Strachan T, Blomstedt G, Salonen O, Setala K, Palotie A et al. Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree. Neurology 1995; 45: 1314-22.
    • (1995) Neurology , vol.45 , pp. 1314-1322
    • Sainio, M.1    Strachan, T.2    Blomstedt, G.3    Salonen, O.4    Setala, K.5    Palotie, A.6
  • 62
    • 0034918396 scopus 로고    scopus 로고
    • Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk
    • Janse AJ, Tan WF, Majoie CB, Bijlsma EK. Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk. Eur J Pediatr 2001; 160: 439-43.
    • (2001) Eur J Pediatr , vol.160 , pp. 439-443
    • Janse, A.J.1    Tan, W.F.2    Majoie, C.B.3    Bijlsma, E.K.4
  • 63
    • 5444271557 scopus 로고    scopus 로고
    • Neurofibromatose de type 2
    • Lavoisier Tec et Doc
    • Goutebroze L, Giovannini M. Neurofibromatose de type 2. In: Oncogénétique. Lavoisier Tec et Doc. 1997: 233-43.
    • (1997) Oncogénétique , pp. 233-243
    • Goutebroze, L.1    Giovannini, M.2
  • 65
    • 0027080030 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling
    • Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 1992; 29: 847-52.
    • (1992) J Med Genet , vol.29 , pp. 847-852
    • Evans, D.G.1    Huson, S.M.2    Donnai, D.3    Neary, W.4    Blair, V.5    Newton, V.6
  • 67
    • 0028079549 scopus 로고
    • Radiological investigation of neurofibromatosis type 2
    • Akeson P, Hollas S. Radiological investigation of neurofibromatosis type 2. Neuroradiology 1994; 36: 107-10.
    • (1994) Neuroradiology , vol.36 , pp. 107-110
    • Akeson, P.1    Hollas, S.2
  • 68
    • 0035142218 scopus 로고    scopus 로고
    • Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype
    • Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 2001; 218: 434-42.
    • (2001) Radiology , vol.218 , pp. 434-442
    • Patronas, N.J.1    Courcoutsakis, N.2    Bromley, C.M.3    Katzman, G.L.4    MacCollin, M.5    Parry, D.M.6
  • 69
    • 0028981250 scopus 로고
    • Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety
    • Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst SM, Baser ME et al. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR 1995; 165: 951-5.
    • (1995) AJR , vol.165 , pp. 951-955
    • Mautner, V.F.1    Tatagiba, M.2    Lindenau, M.3    Funsterer, C.4    Pulst, S.M.5    Baser, M.E.6
  • 70
    • 0029393599 scopus 로고
    • Occult spinal tumors in neurofibromatosis: Implications for screening
    • Elster AD. Occult spinal tumors in neurofibromatosis: implications for screening. AJR 1995; 765: 956-7.
    • (1995) AJR , vol.765 , pp. 956-957
    • Elster, A.D.1
  • 71
    • 0034532069 scopus 로고    scopus 로고
    • Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2)
    • Evans DG, Newton V, Neary W, Baser ME, Wallace A, Macleod R et al. Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2). J Med Genet 2000; 37: 944-7.
    • (2000) J Med Genet , vol.37 , pp. 944-947
    • Evans, D.G.1    Newton, V.2    Neary, W.3    Baser, M.E.4    Wallace, A.5    Macleod, R.6
  • 74
    • 0035075603 scopus 로고    scopus 로고
    • Molecular genetic aspects of the phakomatoses: Tuberous sclerosis complex and neurofibromatosis 1
    • MacCollin M, Kwiatkowski D. Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. Curr Opin Neurol 2001; 14: 163-9.
    • (2001) Curr Opin Neurol , vol.14 , pp. 163-169
    • MacCollin, M.1    Kwiatkowski, D.2
  • 75
    • 0033840291 scopus 로고    scopus 로고
    • Advances in the understanding of tuberous sclerosis
    • O'Callaghan FJ, Osborne JP. Advances in the understanding of tuberous sclerosis. Arch Dis Child 2000; 83: 140-2.
    • (2000) Arch Dis Child , vol.83 , pp. 140-142
    • O'Callaghan, F.J.1    Osborne, J.P.2
  • 76
    • 0034113402 scopus 로고    scopus 로고
    • Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis
    • Mizuguchi M, Ikeda K, Takashima S. Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathol 2000; 99: 503-10.
    • (2000) Acta Neuropathol , vol.99 , pp. 503-510
    • Mizuguchi, M.1    Ikeda, K.2    Takashima, S.3
  • 78
    • 0035167932 scopus 로고    scopus 로고
    • Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
    • Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80.
    • (2001) Am J Hum Genet , vol.68 , pp. 64-80
    • Dabora, S.L.1    Jozwiak, S.2    Franz, D.N.3    Roberts, P.S.4    Nieto, A.5    Chung, J.6
  • 79
    • 0032693614 scopus 로고    scopus 로고
    • New developments in the neurobiology of the tuberous sclerosis complex
    • Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology 1999; 53: 1384-90.
    • (1999) Neurology , vol.53 , pp. 1384-1390
    • Crino, P.B.1    Henske, E.P.2
  • 80
    • 0030660617 scopus 로고    scopus 로고
    • Tuberous Sclerosis Complex: The role of neuroradiology
    • Griffiths PD, Martland TR. Tuberous Sclerosis Complex: the role of neuroradiology. Neuropediatrics 1997; 28: 244-52.
    • (1997) Neuropediatrics , vol.28 , pp. 244-252
    • Griffiths, P.D.1    Martland, T.R.2
  • 82
  • 83
    • 0026538490 scopus 로고
    • MR imaging of tuberous sclerosis: Pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review
    • Braffman BH, Bilaniuk LT, Naidich TP, Altman NR, Post MJ, Quencer RM et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992; 183: 227-38.
    • (1992) Radiology , vol.183 , pp. 227-238
    • Braffman, B.H.1    Bilaniuk, L.T.2    Naidich, T.P.3    Altman, N.R.4    Post, M.J.5    Quencer, R.M.6
  • 84
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-8.
    • (1998) J Child Neurol , vol.13 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 85
    • 0032424306 scopus 로고    scopus 로고
    • Skin lesions in children with tuberous sclerosis complex: Their prevalence, natural course, and diagnostic significance
    • Jozwiak S, Schwartz RA, Janniger CK, Michalowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998; 37: 911-7.
    • (1998) Int J Dermatol , vol.37 , pp. 911-917
    • Jozwiak, S.1    Schwartz, R.A.2    Janniger, C.K.3    Michalowicz, R.4    Chmielik, J.5
  • 86
    • 0034861703 scopus 로고    scopus 로고
    • Tuberous sclerosis. Part I. Clinical and central nervous system findings
    • Caldemeyer KS, Mirowski GW. Tuberous sclerosis. Part I. Clinical and central nervous system findings. J Am Acad Dermatol 2001; 45: 448-9.
    • (2001) J Am Acad Dermatol , vol.45 , pp. 448-449
    • Caldemeyer, K.S.1    Mirowski, G.W.2
  • 87
    • 0028824180 scopus 로고
    • MR evaluation of tuberous sclerosis: Increased sensitivity with fluid-attenuated inversion recovery and relation to severity of seizures and mental retardation
    • Takanashi J, Sugita K, Fujii K, Niimi H. MR evaluation of tuberous sclerosis: increased sensitivity with fluid-attenuated inversion recovery and relation to severity of seizures and mental retardation. AJNR 1995; 16: 1923-8.
    • (1995) AJNR , vol.16 , pp. 1923-1928
    • Takanashi, J.1    Sugita, K.2    Fujii, K.3    Niimi, H.4
  • 88
    • 0036880352 scopus 로고    scopus 로고
    • Supratentorial tuber location and autism in tuberous sclerosis complex
    • Walz NC, Byars AW, Egelhoff JC, Franz DN. Supratentorial tuber location and autism in tuberous sclerosis complex. J Child Neurol 2002; 17; 830-2.
    • (2002) J Child Neurol , vol.17 , pp. 830-832
    • Walz, N.C.1    Byars, A.W.2    Egelhoff, J.C.3    Franz, D.N.4
  • 89
    • 0028821190 scopus 로고
    • MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment
    • Shepherd CW, Houser OW, Gomez MR. MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR 1995; 16: 149-55.
    • (1995) AJNR , vol.16 , pp. 149-155
    • Shepherd, C.W.1    Houser, O.W.2    Gomez, M.R.3
  • 90
    • 0023106020 scopus 로고
    • Magnetic resonance imaging in tuberous sclerosis
    • Roach ES, Williams DP, Laster DW. Magnetic resonance imaging in tuberous sclerosis. Arch Neurol 1987; 44: 301-3.
    • (1987) Arch Neurol , vol.44 , pp. 301-303
    • Roach, E.S.1    Williams, D.P.2    Laster, D.W.3
  • 91
    • 0029056712 scopus 로고
    • Solitary cortical tubers
    • DiPaolo D, Zimmerman RA. Solitary cortical tubers. AJNR 1995; 16: 1360-4.
    • (1995) AJNR , vol.16 , pp. 1360-1364
    • DiPaolo, D.1    Zimmerman, R.A.2
  • 92
    • 0026583705 scopus 로고
    • Formation, maturation, and disorders of brain neocortex
    • Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR 1992; 13: 423-46.
    • (1992) AJNR , vol.13 , pp. 423-446
    • Barkovich, A.J.1    Gressens, P.2    Evrard, P.3
  • 93
    • 0030925876 scopus 로고    scopus 로고
    • Improved detection of cortical and subcortical tubers in tuberous sclerosis by fluid-attenuated inversion recovery MRI
    • Kato T, Yamanouchi H, Sugai K, Takashima S. Improved detection of cortical and subcortical tubers in tuberous sclerosis by fluid-attenuated inversion recovery MRI. Neuroradiology 1997; 39: 378-80.
    • (1997) Neuroradiology , vol.39 , pp. 378-380
    • Kato, T.1    Yamanouchi, H.2    Sugai, K.3    Takashima, S.4
  • 94
    • 0029130485 scopus 로고
    • Cortical and subcortical tubers in tuberous sclerosis and FLAIR sequence
    • Maeda M, Tartaro A, Matsuda T, Ishii Y. Cortical and subcortical tubers in tuberous sclerosis and FLAIR sequence. J Comput Assist Tomogr 1995; 19: 660-1.
    • (1995) J Comput Assist Tomogr , vol.19 , pp. 660-661
    • Maeda, M.1    Tartaro, A.2    Matsuda, T.3    Ishii, Y.4
  • 95
    • 0032725180 scopus 로고    scopus 로고
    • MR imaging of tuberous sclerosis in neonates and young infants
    • Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR 1999; 20: 907-16.
    • (1999) AJNR , vol.20 , pp. 907-916
    • Baron, Y.1    Barkovich, A.J.2
  • 96
    • 0031546121 scopus 로고    scopus 로고
    • Cystlike white matter lesions in tuberous sclerosis
    • Van Tassel P, Cure JK, Holden KR. Cystlike white matter lesions in tuberous sclerosis. AJNR 1997; 18: 1367-73.
    • (1997) AJNR , vol.18 , pp. 1367-1373
    • Van Tassel, P.1    Cure, J.K.2    Holden, K.R.3
  • 98
    • 0032159190 scopus 로고    scopus 로고
    • White matter abnormalities in tuberous sclerosis complex
    • Griffiths PD, Bolton P, Verity C. White matter abnormalities in tuberous sclerosis complex. Acta Radiol 1998; 39: 482-6.
    • (1998) Acta Radiol , vol.39 , pp. 482-486
    • Griffiths, P.D.1    Bolton, P.2    Verity, C.3
  • 99
    • 0032989136 scopus 로고    scopus 로고
    • Tuberous Sclerosis Consensus Conference: Recommendations for diagnostic evaluation
    • National Tuberous Sclerosis Association
    • Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999; 14: 401-7.
    • (1999) J Child Neurol , vol.14 , pp. 401-407
    • Roach, E.S.1    DiMario, F.J.2    Kandt, R.S.3    Northrup, H.4
  • 100
    • 0034023746 scopus 로고    scopus 로고
    • National Institutes of Health consensus conference: Tuberous sclerosis complex
    • Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 2000; 57: 662-5.
    • (2000) Arch Neurol , vol.57 , pp. 662-665
    • Hyman, M.H.1    Whittemore, V.H.2
  • 102
    • 0033909888 scopus 로고    scopus 로고
    • Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents
    • Sgambati MT, Stolle C, Choyke PL, Walther MM, Zbar B, Linehan WM et al. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet 2000; 66: 84-91.
    • (2000) Am J Hum Genet , vol.66 , pp. 84-91
    • Sgambati, M.T.1    Stolle, C.2    Choyke, P.L.3    Walther, M.M.4    Zbar, B.5    Linehan, W.M.6
  • 104
    • 5444253006 scopus 로고    scopus 로고
    • Maladie de von Hippel-Lindau
    • Lavoisier Tec et Doc
    • Richard S. Maladie de von Hippel-Lindau. In: Oncogénétique. Lavoisier Tec et Doc. 1997: 233-43.
    • (1997) Oncogénétique , pp. 233-243
    • Richard, S.1
  • 105
    • 0033136031 scopus 로고    scopus 로고
    • Third International Meeting on von Hippel-Lindau disease
    • Zbar B, Kaeliri W, Maher E, Richard S. Third International Meeting on von Hippel-Lindau disease. Cancer Res 1999; 59: 2251-3.
    • (1999) Cancer Res , vol.59 , pp. 2251-2253
    • Zbar, B.1    Kaeliri, W.2    Maher, E.3    Richard, S.4
  • 106
    • 0032702779 scopus 로고    scopus 로고
    • The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system
    • Glasker S, Bender BU, Apel TW, Natt E, van Velthoven V, Scheremet R et al: The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. J Neurol Neurosurg Psychiatry 1999; 67: 758-62.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 758-762
    • Glasker, S.1    Bender, B.U.2    Apel, T.W.3    Natt, E.4    Van Velthoven, V.5    Scheremet, R.6
  • 109
    • 0032695163 scopus 로고    scopus 로고
    • Long-term prognosis of haemangioblastoma of the CNS: Impact of von Hippel-Lindau disease
    • Niemela M, Lemeta S, Summanen P, Bohling T, Sainio M, Kere J et al. Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease. Acta Neurochir 1999; 141: 1147-56.
    • (1999) Acta Neurochir , vol.141 , pp. 1147-1156
    • Niemela, M.1    Lemeta, S.2    Summanen, P.3    Bohling, T.4    Sainio, M.5    Kere, J.6
  • 110
    • 0035155525 scopus 로고    scopus 로고
    • Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease
    • Conway JE, Chou D, Clatterbuck RE, Brem H, Long DM, Rigamonti D. Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease. Neurosurgery 2001; 48: 55-62.
    • (2001) Neurosurgery , vol.48 , pp. 55-62
    • Conway, J.E.1    Chou, D.2    Clatterbuck, R.E.3    Brem, H.4    Long, D.M.5    Rigamonti, D.6
  • 111
    • 0034877619 scopus 로고    scopus 로고
    • Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: Case report and review of the literature
    • Goto T, Nishi T, Kunitoku N, Yamamoto K, Kitamura I, Takeshima H et al. Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. Surg Neurol 2001; 56: 22-6.
    • (2001) Surg Neurol , vol.56 , pp. 22-26
    • Goto, T.1    Nishi, T.2    Kunitoku, N.3    Yamamoto, K.4    Kitamura, I.5    Takeshima, H.6
  • 113
    • 0036665042 scopus 로고    scopus 로고
    • Radiological considerations in the diagnosis of an endolymphatic sac tumour
    • Joy HM, Barker CS, Millar JS, Davis A. Radiological considerations in the diagnosis of an endolymphatic sac tumour. Clin Radiol 2002; 57: 652-4.
    • (2002) Clin Radiol , vol.57 , pp. 652-654
    • Joy, H.M.1    Barker, C.S.2    Millar, J.S.3    Davis, A.4
  • 114
    • 0030460281 scopus 로고    scopus 로고
    • Sturge-Weber syndrome revisited; the role of neuroradiology
    • Griffiths PD. Sturge-Weber syndrome revisited; the role of neuroradiology. Neuropediatrics 1996; 27: 284-94.
    • (1996) Neuropediatrics , vol.27 , pp. 284-294
    • Griffiths, P.D.1
  • 115
    • 0027121110 scopus 로고
    • Malformations vasculaires complexes systématisées
    • Enjorlas O. Malformations vasculaires complexes systématisé es. Rev Prat 1992; 42: 2048-52.
    • (1992) Rev Prat , vol.42 , pp. 2048-2052
    • Enjorlas, O.1
  • 116
    • 0028199732 scopus 로고
    • Sturge-Weber syndrome with posterior fossa involvement
    • Decker T, Jones K, Barnes P. Sturge-Weber syndrome with posterior fossa involvement. AJNR 1994; 15: 389-92.
    • (1994) AJNR , vol.15 , pp. 389-392
    • Decker, T.1    Jones, K.2    Barnes, P.3
  • 117
    • 0021807948 scopus 로고
    • Facial port-wine stains and Sturge-Weber syndrome
    • Enjorlas O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985; 76: 48-51.
    • (1985) Pediatrics , vol.76 , pp. 48-51
    • Enjorlas, O.1    Riche, M.C.2    Merland, J.J.3
  • 118
    • 0033708663 scopus 로고    scopus 로고
    • Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures
    • Kramer U, Kahana E, Shorer Z, Ben-Zeev B. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol 2000; 42: 756-9.
    • (2000) Dev Med Child Neurol , vol.42 , pp. 756-759
    • Kramer, U.1    Kahana, E.2    Shorer, Z.3    Ben-Zeev, B.4
  • 121
    • 0027324673 scopus 로고
    • MR and MR angiography of Sturge-Weber syndrome
    • Vogl TJ, Stemmler J, Bergman C. MR and MR angiography of Sturge-Weber syndrome. AJNR 1993; 14: 417-25.
    • (1993) AJNR , vol.14 , pp. 417-425
    • Vogl, T.J.1    Stemmler, J.2    Bergman, C.3
  • 122
    • 0034222942 scopus 로고    scopus 로고
    • Syndrome de Sturge-Weber. Données actuelles de l'imagerie neuroradiologique
    • Boukobza M, Enjorlas O, Cambra MR, Merland JJ. Syndrome de Sturge-Weber. Données actuelles de l'imagerie neuroradiologique. J Radiol 2000; 81: 765-71.
    • (2000) J Radiol , vol.81 , pp. 765-771
    • Boukobza, M.1    Enjorlas, O.2    Cambra, M.R.3    Merland, J.J.4
  • 124
    • 0036129949 scopus 로고    scopus 로고
    • Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere
    • Portilla P, Husson B, Lasjaunias P, Landrieu P. Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere. AJNR 2002; 23: 490-2.
    • (2002) AJNR , vol.23 , pp. 490-492
    • Portilla, P.1    Husson, B.2    Lasjaunias, P.3    Landrieu, P.4
  • 125
    • 0029991120 scopus 로고
    • Abnormal ocular enhancement in Sturge-Weber syndrome: Correlation of ocular MR and CT findings with clinical and intracranial imaging findings
    • Griffiths PD, Boodram MB, Blaser S, Altomare F, Buncic JR, Levin AV et al. Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings. AJNR 1995; 17: 749-54.
    • (1995) AJNR , vol.17 , pp. 749-754
    • Griffiths, P.D.1    Boodram, M.B.2    Blaser, S.3    Altomare, F.4    Buncic, J.R.5    Levin, A.V.6
  • 126
    • 0035699502 scopus 로고    scopus 로고
    • Quel est votre diagnostic?
    • Antoun H, Adamsbaum C. Quel est votre diagnostic? J. Neuroradiol 2001; 28: 241-3.
    • (2001) J Neuroradiol , vol.28 , pp. 241-243
    • Antoun, H.1    Adamsbaum, C.2
  • 127
    • 0027273234 scopus 로고
    • The Sturge-Weber syndrome: Correlation between the clinical status and radiological CT and MRI findings
    • Marti-Bonmati L, Menor L, Mulas F. The Sturge-Weber syndrome: correlation between the clinical status and radiological CT and MRI findings. Child's Nerv Syst 1993; 9: 107-9.
    • (1993) Child's Nerv Syst , vol.9 , pp. 107-109
    • Marti-Bonmati, L.1    Menor, L.2    Mulas, F.3


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