icon fsr

文献詳細

雑誌文献

Neurological Surgery 脳神経外科38巻7号

2010年07月発行

文献概要

症例

親子間で認めた家族性AVMの1例

著者: 輪島大介1 竹島靖浩1 田村健太郎1 本山靖1 平林秀裕1 中瀬裕之1

所属機関: 1奈良県立医科大学脳神経外科

ページ範囲:P.639 - P.644

文献購入ページに移動
Ⅰ.はじめに

 脳動静脈奇形(arteriovenous malformation:AVM)は胎生早期に発生する先天性異常であるが,家族性AVM(4親等以内の親族に2人以上のAVMの既往がある場合)2-4,6,9,11,13,14,21,22,24)の報告は非常に稀である.今回,われわれは親子間で認められた家族性AVMの症例を経験したため,文献的考察を加えて報告する.

参考文献

1)Abdalla SA, Letarte M:Hereditary haemorrhagic telangiectasia:Current views on genetics and mechanisms of disease. J Med Genet 43:97-110, 2006
2)Amin-Hanjani S, Robertson R, Arginteanu MS, Scott RM:Familial intracranial arteriovenous malformations. Case report and review of the literature. Pediatr Neurosurg 29:208-213, 1998
3)Barre RG, Suter CG, Rosenblum WI:Familial vascular malformation or chance occurrence? Case report of two affected family members. Neurology 28:98-100, 1978
4)Boyd MC, Steinbok P, Paty DW:Familial arteriovenous malformations. Report of four cases in one family. J Neurosurg 62:597-599, 1985
5)Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA:SMAD4 mutations found in unselected hht patients. J Med Genet 43:793-797, 2006
6)Goto S, Abe M, Tsuji T, Tabuchi K:Familial arteriovenous malformations of the brain--two case reports. Neurol Med Chir (Tokyo) 34:221-224, 1994
7)Guttmacher AE, Marchuk DA, White RI, Jr:Hereditary hemorrhagic telangiectasia. N Engl J Med 333:918-924, 1995
8)Hashimoto T, Lawton MT, Wen G, Yang GY, Chaly T, Jr., Stewart CL, Dressman HK, Barbaro NM, Marchuk DA, Young WL:Gene microarray analysis of human brain arteriovenous malformations. Neurosurgery 54:410-423;discussion 423-415, 2004
9)Herzig R, Burval S, Vladyka V, Janouskova L, Krivanek P, Krupka B, Vlachova I, Urbanek K:Familial occurrence of cerebral arteriovenous malformation in sisters:Case report and review of the literature. Eur J Neurol 7:95-100, 2000
10)Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA:Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13:189-195, 1996
11)Kamiryo T, Nelson PK, Bose A, Zalzal P, Jafar JJ:Familial arteriovenous malformations in siblings. Surg Neurol 53:255-259, 2000
12)小泉昭夫,山田茂樹,宇都宮真木,井上佳代子,野崎和彦,竹中勝信,岩間 亨,鈴木倫保,野村貞宏,依藤純子,山川弘保,阿部雅光,田渕和雄,松田昌之,橋本信夫:脳神経外科疾患の責任遺伝子解析の概説.No Shinkei Geka 32:1203-1213, 2004
13)Laing JW, Smith RR:Intracranial arteriovenous malformations in sisters:A case report. J Miss State Med Assoc 15:203-206, 1974
14)Larsen PD, Hellbusch LC, Lefkowitz DM, Schaefer GB:Cerebral arteriovenous malformation in three successive generations. Pediatr Neurol 17:74-76, 1997
15)Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME:Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 21:1016-1020, 2000
16)McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al:Endoglin, a tgf-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8:345-351, 1994
17)Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M:Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome). Pediatrics 109:E12, 2002
18)Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL:Polymorphisms in transforming growth factor-beta-related genes alk1 and eng are associated with sporadic brain arteriovenous malformations. Stroke 36:2278-2280, 2005
19)Shovlin CL, Letarte M:Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations:Issues in clinical management and review of pathogenic mechanisms. Thorax 54:714-729, 1999
20)Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H:Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66-67, 2000
21)Snead OC, 3rd, Acker JD, Morawetz R:Familial arteriovenous malformation. Ann Neurol 5:585-587, 1979
22)van Beijnum J, van der Worp HB, Schippers HM, van Nieuwenhuizen O, Kappelle LJ, Rinkel GJ, Berkelbach van der Sprenkel JW, Klijn CJ:Familial occurrence of brain arteriovenous malformations:A systematic review. J Neurol Neurosurg Psychiatry 78:1213-1217, 2007
23)Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG:Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 92:779-784, 2000
24)Zellem RT, Buchheit WA:Multiple intracranial arteriovenous malformations:Case report. Neurosurgery 17:88-93, 1985

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1251

印刷版ISSN:0301-2603

雑誌購入ページに移動
icon up
あなたは医療従事者ですか?