临床表现为脱发、腰痛的NOTCH3基因突变合并ABCC6基因突变的脑小血管病1例

A case of cerebral small vessel disease related to a missense mutation in NOTCH3 with clinical manifestations of alopecia and lumbago

常染色体显性遗传性脑动脉病伴皮质下脑梗死和白质脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是最常见的遗传性脑小血管疾病,由19号染色体上Notch3基因发生突变所致。与CADASIL相比,由高温相关丝氨酸蛋白酶A1(high-temperature requirement protease A1,HTRA1)纯合突变引起的常染色体隐性遗传性脑动脉病伴皮下脑梗死和白质脑病是一种罕见的单基因脑小血管病。文中报道1例患者,男,47岁,主因"饮水呛咳、吞咽困难28 h"就诊,根据家族史,影像学表现考虑遗传性脑小血管病,临床表现伴有常染色体隐性遗传性脑动脉病伴皮下脑梗死和白质脑病典型症状脱发和腰痛,基因检测提示NOTCH3基因突变合并ABCC6基因突变。通过对此病例临床资料的分析,有助于提高临床医师对遗传性脑小血管病的识别。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy(CADASIL))is the most common inherited cerebral small-vessel disease,which is caused by mutations in the Notch3 gene on chromosome 19.Compared with CADASIL,CARASIL caused by homozygous mutation of high-temperature requirement protease A1(HTRA1)is a rare single-gene cerebral small vessel disease.A 47-year-old male patient was reported in this paper.The main cause was"cough in drinking water and dysphagia for 28 hours".According to family history and imaging findings,he was considered to be hereditary cerebral small vessel disease,and the clinical manifestations were accompanied by typical symptoms of CARASIL,such as alopecia and low back pain.Gene detection suggested that NOTCH3 gene mutation combined with ABCC6 gene mutation.Through the analysis of the clinical data of this case,it is helpful for clinicians to improve the recognition of hereditary cerebral small vessel disease.