Wyburn-Mason or Bonnet-Dechaume-Blanc as cerebrofacial arteriovenous metameric syndromes (CAMS) - A new concept and a new classification

被引:93
作者
Bhattacharya, JJ
Luo, CB
Suh, DC
Alvarez, H
Rodesch, G
Lasjaunias, P
机构
[1] Univ Paris Sud, Hop Bicetre, F-94275 Le Kremlin Bicetre, France
[2] So Gen Hosp, Inst Neurol Sci, Glasgow G51 4TF, Lanark, Scotland
[3] Natl Yang Ming Univ, Dept Radiol, Taipei 112, Taiwan
[4] Taipei VGH, Taipei, Taiwan
[5] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Radiol, Seoul, South Korea
来源
INTERVENTIONAL NEURORADIOLOGY | 2001年 / 7卷 / 01期
关键词
Bonnet-Dechaume-Blanc syndrome; Wyburn-Mason syndrome; cerebral arteriovenous malformations-multifocal; retinal vascular lesions; craniofacial vascular malformations; phakomatoses; metameric cerebral lesions; neural crest disease;
D O I
10.1177/159101990100700101
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The diagnosis of Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome encompasses a spectrum of phenotypic expression. Features of the syndrome as originally described, and common to all, include arteriovenous malformations of the brain and orbit (with retinal and/or retrobulbar lesions). A portion of these patients manifest the complete expression of the disease with additional high-flow arteriovenous malformations of the maxillofacial or mandibular regions These present the distinct and additional risks of life-threatening epistaxis or gingival haemorrhage. We suggest new diagnostic criteria for the syndrome. Applying insights from modern developmental biology to our series of 15 patients (the largest to date), together with a review of the literature, we have recognised metameric patterns of involvement in what we believe to be a disease of the neural crest or adjacent cephalic mesoderm. This allows us to propose a new rational classification reflecting the putative underlying disorder and to suggest a new name: Cerebrofacial Arteriovenous Metameric Syndrome (CAMS).
引用
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页码:5 / 17
页数:13
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