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伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL):一种罕见的痴呆病因。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia.

作者信息

Toni-Uebari Thelma K

机构信息

Old Age Psychiatry, Parklands Hospital, Basingstoke, Hampshire, UK.

出版信息

BMJ Case Rep. 2013 Jan 25;2013:bcr2012007285. doi: 10.1136/bcr-2012-007285.

Abstract

The clinical course of a 60-year-old gentleman with a history of atypical migraine, recurrent encephalopathic episodes and progressive cognitive impairment is presented. He was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, a rare genetic disorder of the cerebral blood vessels caused by mutations in the Notch 3 gene on chromosome 19. The diagnosis was confirmed by MRI, skin biopsy and genetic testing. His cognitive function has progressively deteriorated and he continues to receive supportive care provision. The course and review of the condition are highlighted.

摘要

本文介绍了一位60岁男性患者的临床病程,该患者有非典型偏头痛、复发性脑病发作和进行性认知障碍病史。他被诊断为伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病,这是一种由19号染色体上Notch 3基因突变引起的罕见脑血管遗传病。通过MRI、皮肤活检和基因检测确诊。他的认知功能逐渐恶化,目前仍在接受支持性护理。文中重点强调了病情的发展过程及相关评估。

相似文献

本文引用的文献

2
[The pathomechanism and treatment of CADASIL].
Rinsho Shinkeigaku. 2011 Nov;51(11):945-8. doi: 10.5692/clinicalneurol.51.945.
3
[CADASIL: Case report and literature review].
Psychiatriki. 2008 Jan;19(1):21-7.

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