文献詳細
文献概要
総説
発生・解剖・遺伝からみた脳血管病変
著者: 小宮山雅樹1
所属機関: 1大阪市立総合医療センター脳血管内治療科
ページ範囲:P.103 - P.115
文献購入ページに移動Ⅰ.はじめに
脳血管病変は,頚部血管を含めた脳血管の異常であり,種々の原因による正常な脳血管の解剖学的構築や生理的な状態からの逸脱と考えられる.脳動静脈奇形(arteriovenous malformation:AVM)を代表とする先天性疾患では,「生下時に病変がある=生まれつき」,つまり,病変の形成は出生前であると考えがちである.この発想の裏には,「出生までにすべての血管の発生過程は終了し,その異常は出生時のまま成人まで維持される」という考えがある.しかし,原因遺伝子の変異に起因することが判明している疾患であっても,出生後に病変が形成されることも多く,出生を境に先天性疾患と後天性疾患を区別することは正しくなく,病因の理解を困難にする17).
本稿では,発生・解剖・遺伝学的視点から,受精,出生,成熟,老化という時系列の中で種々の脳血管病変を概観することを試みた.このような視点は,血管病変の病因・病態を考える上で重要であり,多くの示唆を与えてくれる.脳血管の発生や個々の疾患の記載は誌面の関係で十分ではなく,参考文献を参照してほしい.
脳血管病変は,頚部血管を含めた脳血管の異常であり,種々の原因による正常な脳血管の解剖学的構築や生理的な状態からの逸脱と考えられる.脳動静脈奇形(arteriovenous malformation:AVM)を代表とする先天性疾患では,「生下時に病変がある=生まれつき」,つまり,病変の形成は出生前であると考えがちである.この発想の裏には,「出生までにすべての血管の発生過程は終了し,その異常は出生時のまま成人まで維持される」という考えがある.しかし,原因遺伝子の変異に起因することが判明している疾患であっても,出生後に病変が形成されることも多く,出生を境に先天性疾患と後天性疾患を区別することは正しくなく,病因の理解を困難にする17).
本稿では,発生・解剖・遺伝学的視点から,受精,出生,成熟,老化という時系列の中で種々の脳血管病変を概観することを試みた.このような視点は,血管病変の病因・病態を考える上で重要であり,多くの示唆を与えてくれる.脳血管の発生や個々の疾患の記載は誌面の関係で十分ではなく,参考文献を参照してほしい.
参考文献
1) Bhattacharya JJ, Luo CB, Suh DC, Alvarez H, Rodesch G, Lasjaunias P:Wyburn-Mason or Bonnet-Dechaume-Blanc as cerebrofacial arteriovenous metameric syndromes(CAMS). A new concept and a new classification. Interv Neuroradiol 7:5-17, 2001
2) Brouillard P, Vikkula M:Vascular malformations:localized defects in vascular morphogenesis. Clin Genet 63:340-351, 2003
3) Cloft HJ, Razack N, Kallmes DF:Prevalence of cerebral aneurysms in patients with persistent primitive trigeminal artery. J Neurosurg 90:865-867, 1999
4) Cobb S:Haemangioma of the spinal cord associated with skin naevi of the same metamere. Ann Surg 62:641-649, 1915
5) Frieden IJ, Reese V, Cohen D:PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132:307-311, 1996
6) Gold AP, Ransohoff J, Carter S:Vein of Galen malformation. Acta Neurol Scand 40(Suppl 11):1-31, 1964
7) Im SH, Han MH, Kwon BJ, Ahn JY, Jung C, Park SH, Oh CW, Han DH:Venous-predominant parenchymal arteriovenous malformation:a rare subtype with a venous drainage pattern mimicking developmental venous anomaly. J Neurosurg 108:1142-1147, 2008
8) Jenny B, Zerah M, Swift D, Le Tohic A, Merzoug V, Alvarez H, Grangé G, Rilliet B:Giant dural venous sinus ectasia in neonates. J Neurosurg Pediatr 5:523-528, 2010
9) Jeon JP, Kim JE, Ahn JH, Cho WS, Cho YD, Son YJ, Bang JS, Kang HS, Sohn CH, Chung HT, Oh CW, Kim DG:Long-term treatment outcome of venous-predominant arteriovenous malformation. J Neurosurg 124:1100-1106, 2016
10) Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S:A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56:34-40, 2011
11) Komiyama M, Nakajima H, Nishikawa M, Yasui T:Middle cerebral artery variations:duplicated and accessory arteries. AJNR Am J Neuroradiol 19:45-49, 1998
12) Komiyama M, Yamanaka K, Iwai Y, Yasui T:Venous angiomas with arteriovenous shunts:report of three cases and review of the literature. Neurosurgery 44:1328-1334;discussion 1334-1335, 1999
13) Komiyama M, Ishiguro T, Kitano S, Sakamoto H, Nakamura H:Serial antenatal sonographic observation of cerebral dural sinus malformation. AJNR Am J Neuroradiol 25:1446-1448, 2004
14) 小宮山雅樹:頭頸部の血管異常:血管腫と血管奇形.Clin Neurosci 23:1173-1175, 2005
15) 小宮山雅樹:脳血管の機能解剖.No Shinkei Geka 33:213-224, 2005
16) 小宮山雅樹:脳静脈の機能解剖.脳外誌18:821-829, 2009
17) 小宮山雅樹:異なる視点からみた脳動静脈奇形の疾患概念.脳外誌20:4-11, 2011
18) 小宮山雅樹:脳脊髄血管の基本構築.小宮山雅樹(編):脳脊髄血管—正常から変異,異常まで—.メディカ出版,大阪,2014
19) 小宮山雅樹:ガレン大静脈瘤.Clin Neurosci 33:446-448, 2015
20) 小宮山雅樹:脳・脊髄の穿通動脈の機能解剖:中枢神経系の分節構築の観点から.脳外誌24:4-11, 2015
21) 小宮山雅樹:遺伝性出血性毛細血管拡張症.脳卒中の外科43:193-200, 2015
22) Komiyama M:Letter to the Editor:RNF213 variant and quasi-moyamoya disease. J Neurosurg Pediatr 18:653-654, 2016
23) Krings T, Kim H, Power S, Nelson J, Faughnan ME, Young WL, terBrugge KG;Brain Vascular Malformation Consortium HHT Investigator Group:Neurovascular manifestations in hereditary hemorrhagic telangiectasia:imaging features and genotype-phenotype correlations. AJNR Am J Neuroradiol 36:863-870, 2015
24) Kudo T:Spontaneous occlusion of the circle of Willis. A disease apparently confined to Japanese. Neurology 18:485-496, 1968
25) Lasjaunias P, Burrows P, Planet C:Developmental venous anomalies(DVA):the so-called venous angioma. Neurosurg Rev 9:233-242, 1986
26) Lasjaunias P:A revised concept of the congenital nature of cerebral arteriovenous malformations. Interv Neuroradiol 3:275-281, 1997
27) Lasjaunias PL:Segmental identity and vulnerability in cerebral arteries. Interv Neuroradiol 6:113-124, 2000
28) Lasjaunias PL, Landrieu P, Rodesch G, Alvarez H, Ozanne A, Holmin S, Zhao WY, Geibprasert S, Ducreux D, Krings T:Cerebral proliferative angiopathy:clinical and angiographic description of an entity different from cerebral AVMs. Stroke 39:878-885, 2008
29) Léauté-Labrèze C, Dumas de la Roque E, Hubiche T, Boralevi F, Thambo JB, Taïeb A:Propranolol for severe hemangiomas of infancy. N Engl J Med 358:2649-2651, 2008
30) Lie TA:Congenital malformations of the carotid and vertebral arterial systems, including the persistent anastomoses. In Vinken PJ, Bruyn GW(eds):Handbook of Clinical Neurology, Vol.12, Chapter 9. North Holland Publishing Co, Amsterdam, 1972, pp.289-339
31) Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A:Identification of RNF213 as susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6:e22542, 2011
32) McCormick WF:The pathology of vascular(“arteriovenous”)malformations. J Neurosurg 24:807-816, 1966
33) Morimoto T, Mineharu Y, Kobayashi H, Harada KH, Funaki T, Takagi Y, Sakai N, Miyamoto S, Koizumi A:Significant association of the RNF213 p.R4810K polymorphism with quasi-moyamoya disease. J Stroke Cerebrovasc Dis 25:2632-2636, 2016
34) Mulliken JB, Glowacki J:Hemangiomas and vascular malformations in infants and children:a classification based on endothelial characteristics. Plast Reconstr Surg 69:412-422, 1982
35) Okudera T, Huang YP, Fukusumi A, Nakamura Y, Hatazawa J, Uemura K:Micro-angiographical studies of the medullary venous system of the cerebral hemisphere. Neuropathology 19:93-111, 1999
36) Padget DH:The development of the cranial arteries in the human embryo. Contrib Embryol 32:205-261, 1948
37) Padget DH:The development of the cranial venous system in man, from the viewpoint of comparative anatomy. Contrib Embryol 36:79-140, 1957
38) Puelles L, Harrison M, Paxinos G, Watson C:A developmental ontology for the mammalian brain based on the prosomeric model. Trends Neurosci 36:570-578, 2013
39) Raybaud CA, Strother CM, Hald JK:Aneurysms of the vein of Galen:embryonic considerations and anatomical features relating to the pathogenesis of the malformation. Neuroradiology 31:109-128, 1989
40) Raybaud C:Normal and abnormal embryology and development of the intracranial vascular system. Neurosurg Clin N Am 21:399-426, 2010
41) Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M:Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RISA1 mutations. Hum Mutat 29:959-965, 2008
42) 佐野圭司:大脳基底部のtelangiectasia:一私見(特集:脳底部に異常血管網を示す疾患群をめぐって).No To Shinkei 17:748-750, 1965
43) Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J:Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971-1979, 2013
44) Streeter GL:The development of the venous sinuses of the dura mater in the human embryo. Am J Anat 18:145-178, 1915
45) Suzuki J, Takaku A:Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20:288-299, 1969
46) Wyburn-Mason R:Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain 66:163-203, 1943
掲載誌情報