Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta
Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta
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DOI：
10.1159/000076967
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发表时间：
2004-01-01
影响因子：
2.9
通讯作者：
Pagès, M
中科院分区：
文献类型：
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作者：
Rouvière, S;Michelini, R;Pagès, M
成骨不全（OI）是一组异质性结缔组织疾病，由分别编码I型前胶原的前α 1（I）和前α 2（I）链的COL 1A 1或COL 1A 2基因突变引起[1，2]。主要临床表现为骨脆性过度;可能伴有巩膜变蓝、听力丧失和牙本质形成障碍，但神经血管并发症罕见[3-5]。我们报告2例中风，由于自发性夹层的颈内动脉，影响2兄弟姐妹从一个大的家族与OI。
Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue disorders which result from mutations in the COL1A1 or in the COL1A2 gene encoding for pro-alpha1 (I) and pro-alpha2 (I) chains of type I procollagen, respectively [1, 2]. The main clinical manifestation is an excessive bone fragility; blue sclerae, hearing loss, and dentinogenesis imperfecta may be associated, but neurovascular complications are rare [3–5]. We report 2 cases of stroke due to spontaneous dissection of the internal carotid artery, affecting 2 siblings from a large kindred with OI.