A 52-year-old female patient diagnosed with hereditary cerebral small vessel disease(CSVD),with clinical manifestations of recurrent stroke and mild cognitive impairment was reported.There was no history of hypertension or diabetes,and her maternal grandparents were consanguineous.Her maternal grandmother and mother died of cerebral infarction.Cranial magnetic resonance imaging showed multiple lacunar cerebral infarcts,cerebral white matter degeneration and microhemorrhagic foci,and whole exome sequencing reported a heterozygous mutation c.947A＞G in the high-temperature requirement A serine peptidase 1(HTRA1).For patients with CSVD,the family history should be asked,and for patients with suspected hereditary CSVD,the possibility of HTRA1 heterozygous mutations should be considered.Reasonable use of genetic testing methods to screen high-risk families of CSVD patients and further guide treatment.
关键词
大脑小血管疾病/脑梗死/HTRA丝氨酸肽酶1/突变,误义/遗传性脑小血管病
Key words
Cerebral small vessel diseases/Brain infarction/High-temperature requirement A serine peptidase 1/Mutation,missense/Hereditary cerebral small vessel disease
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