银罗素综合征和大脑中动脉梗死1例报告

Q Medicine Neurosurgery Quarterly Pub Date : 2016-08-01 DOI:10.1097/WNQ.0000000000000167

Ayçiçek Ceçen, Erhan Çelikoğlu, M. İş, A. Ramazanoğlu

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引用次数: 0

摘要

银罗素综合征(Silver-Russell syndrome, SRS)是一种以严重的宫内和产后生长迟缓、典型的三角形面部、不对称、斜指和进食困难为特征的疾病。11p15印迹控制区1基因的低甲基化是SRS的主要表观遗传障碍，大约十分之一的患者还携带母体7号染色体的单亲二体。我们报告第一例5岁女孩SRS表现为癫痫发作后左侧大脑中动脉闭塞。SRS患者血栓栓塞事件的早期诊断和有效治疗可以预防并发症和后遗症。

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Silver-Russell Syndrome and Middle Cerebral Artery Infarct: A Case Report

Silver-Russell syndrome (SRS) is a disorder characterized by severe intrauterine and postnatal growth retardation, a typical triangular face, asymmetry, clinodactyly, and feeding difficulties. Hypomethylation in the imprinting control region 1 gene at 11p15 is the major epigenetic disturbance in SRS, and approximately one tenth of patients also carry a maternal uniparental disomy of chromosome 7. We report the first case of a 5-year-old girl with SRS presenting with epileptic seizures following a left-sided middle cerebral artery occlusion. Early diagnosis and effective therapy of thromboembolic events in SRS can prevent complications and sequelae.

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来源期刊

Neurosurgery Quarterly 医学-神经科学

CiteScore

0.08

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurosurgery Quarterly synthesizes the broad wealth of material on international developments in the diagnosis, management, and surgical treatment of neurological disorders. By encompassing viewpoints from worldwide sources, the journal provides information in greater depth than is usually found in the medical literature.