MR of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations

American Journal of Neuroradiology

Volumn 19, Issue 3, 1998, Pages 477-484

  Fulbright, Robert K ^a   Chaloupka, John C ^a   Putman, Christopher M ^a   Sze, Gordon K ^a   Merriam, Michael M ^a   Lee, Graham K ^a   Fayad, Pierre B ^a   Awad, Issam A ^a   White Jr , Robert I ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN ANGIOGRAPHY; CEREBROVASCULAR MALFORMATION; CONTRAST ENHANCEMENT; HUMAN; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE; RENDU OSLER WEBER DISEASE; RETROSPECTIVE STUDY;

CEREBRAL ANGIOGRAPHY; COHORT STUDIES; HUMANS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; MAGNETIC RESONANCE IMAGING; PREVALENCE; RETROSPECTIVE STUDIES; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 0032231685     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (51)

1. Sutton HG. Epistaxis as an indication of impaired nutrition, and of degeneration of the vascular system. Med Mirror 1864;:769-781
2. Rendu HJ. Epistaxis repetees chez un sujet porteir depetits angiomes cutanes et muqueux. Gax Hop 1896;:1322-1323
3. Osier W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Bull Johns Hopkins Hosp 1901;12:333-337
4. Weber RP. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages. Lancet 1907;2:160-162
5. Sobel D, Norman D. CNS manifestations of hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 1984;5:569-573
6. Roman G, Fisher M, Perl DP, Poser CM. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osier-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978;4:130-144
7. Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987;82:989-997
8. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32: 291-297
9. Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527-530
10. Guttmacher AE, Marchuk DA, White RI, Jr. Current concepts: hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333: 913-924
11. White RI Jr. Pulmonary arteriovenous malformations: how do we diagnose them and why is it important to do so? Radiology 1992; 182:633-635
12. Shovlin CL, Hughes JM, Tuddenham EG, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994;6:205-209
13. Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994;31:925-926
14. McAllister KA, Lennon F, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994;31:823-829
15. Heutink P, Haitjema T, Breedveld GJ. Linkage of hereditary haemorrhagic telangiectasia to chromosome k9q34 and evidence for locus heterogeneity. J Med Gene 1994;31:933-936
16. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godte J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995;31:945-950
17. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-B binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-351
18. Bird RM, Jaques WE. Vascular lesions of hereditary hemorrhagic telangiectasia. N Engl J Med 1959;260:597-599
19. Albert P. Personal experience in the treatment of 178 cases of arteriovenous malformations of the brain. Acta Neurochir (Wein) 1982;61:207-226
20. Plauchu H, Bideau A. Epidemiologie et constitution d'un registre de population a propos d'une concentration geographcique d'une maladie hereditaire rare. Population 1984;4-5:765-786
21. Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986;91:1079-1083
22. Jessurun GA, Kamphuis DJ, van der Zande FH, Nossent JC. Cerebral arteriovenous malformations in The Netherlands Antilles: high prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg 1993;95:193-198
23. Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet 1994;52:252-253
24. Marks MP, Lane B, Steinberg GK, Chang P. Vascular characteristics of intracerebral arteriovenous malformations in patients with clinical steal. AJNR Am J Neuroradiol 1991;12:489-496
25. Smith HJ, Strother CM, Kikuchi Y, et al. MR imaging in the management of supratentorial intracranial AVMs. AJNR Am J Neuroradiol 1988;9:225-235
26. Kumar AJ, Vinuela F, Fox AJ, Rosenbaum AE. Unruptured intracranial arteriovenous malformations do cause mass effect. AJNR Am J Neuroradiol 1985;6:29-32
27. Chappell PM, Steinberg GK, Marks MP. Clinically documented hemorrhage in cerebral arteriovenous malformations: MR characteristics. AJNR Am J Neuroradiol 1992;12:489-496
28. Wilms G, Marchal G, Vas Hecke P, et al. Cerebral venous angiomas: MR imaging at 1.5 Tesla. Neuroradiology 1990;32:81-85
29. Osterton B, Solymosi L. Magnetic resonance angiography of cerebral developmental anomalies: its role in differential diagnosis. Neuroradiology 1993;35:97-104
30. Rigamonti D, Drayer BP, Johnson PC, Hadley MN, Zabramski J, Spetzler RF. The MRI appearance of cavernous malformations (angiomas). J Neurosurg 1987;67:518-524
31. Gomori JM, Grossman RI. Occult cerebral vascular malformations: high field MR imaging. Radiology 1986;158:707-713
32. Rapacki TFX, Brantly MJ, Furlow TW, Geyer CA, Toro VE, George ED. Heterogeneity of cerebral cavernous hemangiomas diagnosed by MR imaging. J Comput Assist Tomogr 1990;14:18-25
33. Robinson JR, Awad IA, Little JR. Natural history of the cavernous angioma. J Neurosurg 1991;75:709-714
34. Hanes FM. Multiple hereditary telangiectases causing hemorrhage (hereditary hemorrhagic telangiectasia). Bull Johns Hopkins Hosp 1909;20:63-73
35. Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994;106:1387-1390
36. Davidson CH. Hereditary haemorrhagic telangiectasia: a report on a family of seven generations. Scott Med J 1959;4:260-262
37. Hodgson CH, Kaye RL. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula. N Engl J Med 1959;261:625-636
38. Fulbright RK, Merriam MM, Fayad PB, Sze GK, Egglin TK, White RI Jr. Hereditary hemorrhagic telangiectasia: correlation of MR imaging and clinical findings in 130 patients. Radiology 1994; 193(P):211
39. Boczko ML. Neurological implications of HHT. J Nerv Ment Dis 1964;139:525-536
40. Fayad PB. Neurologic manifestations of hereditary hemorrhagic telangiectasia. In: Gilman S, Goldstein GW, Waxman SG, eds. Neurobase. La Jolla, Calif: Arbor; 1995
41. Nussel F, Wegmuller H, Huber P. Comparison of magnetic resonance angiography, magnetic resonance imaging and conventional angiography in cerebral arteriovenous malformation. Neuroradiology 1991;33:56-61
42. Pott M, Huber M, Assheuer J, Bewermeyer H. Comparison of MRI, CT and angiography in cerebral arteriovenous malformations. Bildgebung 1992;59:98-102
43. Prayer L, Wimberger D, Stiglbauer R, et al. Haemorrhage in intracerebral arteriovenous malformations: detection with MRI and comparison with clinical history. Neuroradiology 1993;35: 424-427
44. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990;95:422-427
45. White RI Jr, Mitchell SE, Barth KH, et al. Angioarchitecture of pulmonary arteriovenous malformations: an important consideration before embolotherapy. AJR Am J Roentgenol 1983;:681-686
46. Awad IA, Robinson JR, Mohanty S, Estes ML. Mixed Vascular Malformations of the brain: clinical and pathogenetic considerations. Neurosurgery 1993;33:179-188
47. Latchaw RE. Commentary: venous angioma, cavernous angioma, and hemorrhage. AJNR Am J Neuroradiol 1994;15:1255-1257
48. Crawford PM, West CR, Chadwick DW, Shaw MDM. Arteriovenous malformations of the brain: natural history in unoperated patients. J Neurol Neurosurg Psychiatry 1986;49:1-10
49. Jane JA, Kassell NF, Torner JC, Winn HR. The natural history of aneurysms and arteriovenous malformations. J Neurosurg 1985;62: 321-323
50. Minakawa T, Tanaka R, Koike T, Takeuchi S, Sasaki O. Angiographic follow-up study of cerebral arteriovenous malformations with reference to their enlargement and regression. Neurosurgery 1989;24:68-74
51. Putman CM, Chaloupka JC, Fulbright RK, Awad IA, White RI, Jr, Fayad PB. Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). AJNR Am J Neuroradiol 1996;17: 1733-1742