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格兰杰综合征:青年卒中的可识别病因。

Grange syndrome: an identifiable cause of stroke in young adults.

机构信息

Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, Brescia, Italy.

出版信息

Am J Med Genet A. 2012 Nov;158A(11):2894-8. doi: 10.1002/ajmg.a.35593. Epub 2012 Sep 17.

Abstract

Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age.

摘要

格兰杰综合征是一种以动脉闭塞性疾病、高血压、先天性心脏缺陷、骨骼脆弱、短指(趾)畸形和学习障碍为特征的疾病。它最初在同一个家庭的四个成员和此后的两个散发病例中被描述,提示存在多种遗传模式的可能性。我们报告了一例 18 岁女性,因基底动脉动脉瘤破裂导致蛛网膜下腔出血,同时存在广泛的血管病变、面部畸形和短指(趾)畸形等独特的全身特征,符合格兰杰综合征的诊断。尽管罕见且尚未完全描述,但格兰杰综合征应纳入年轻患者中风的鉴别诊断中。

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