Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy：a Case Report and Literature Review

doi:10.12114/j.issn.1007-9572.2020.00.184

Abstract

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy（CADASIL） is a monogenic autosomal dominant cerebral small-vessel disorder，mainly manifesting as migraine，subcortical ischemic events，cognitive impairment，and mental symptoms （mood disorders） and so on.The disease aggravates progressively，eventually leading to severe disability and dementia.At present，no therapies have been found to be effective in halting or delaying the disease progression and only empiric treatments can be employed to relieve the main symptoms.This article reports a case of CADASIL with a clear diagnosis，in which the clinical characteristics and management methods are analyzed and summarized，aiming to provide a reference for clinicians to manage the disease.

Key words: Cerebral small vessel diseases, Genetics, Genes, Mutation, Clinical governance, Case reports

摘要： 伴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）是一种单源性常染色体显性脑小血管疾病，主要临床表现为偏头痛、皮质下梗死、认知功能下降及精神症状（情感障碍）等，病程呈进行性加重，最终可导致严重的残疾和痴呆。目前尚无有效的CADASIL治疗方法，临床上多为经验性治疗。本文通过报道1例诊断明确的CADASIL患者，分析并总结CADASIL的临床特征及管理方法，旨在为临床医生管理该病提供参考。

关键词: 大脑小血管疾病, 遗传学, 基因, 突变, 临床管理, 病例报告

ZHANG Chunyan,LIU Qingxin,CAO Xiaoyu, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy：a Case Report and Literature Review　[J]. Chinese General Practice, 2020, 23(30): 3864-3869. DOI: 10.12114/j.issn.1007-9572.2020.00.184.
张春燕,刘庆新,曹晓雨等. 伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病一例报道并文献复习[J]. 中国全科医学, 2020, 23(30): 3864-3869. DOI: 10.12114/j.issn.1007-9572.2020.00.184.

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