Heterozygous HTRA1-related Hereditary Cerebral Small Vessel Disease: A Case Report and Literature Review

doi:10.3969/j.issn.1673-5765.2023.09.012

Abstract

Abstract: Clinical symptoms, imaging findings, and genetic testing results of a 60-year-old male patient with mild cognitive impairment and dizziness were analyzed. The patient had a history of hypertension, hyperlipidemia, hyperuricemia, and long-term smoking and alcohol consumption. His mother had dementia. Cranial magnetic resonance images revealed multiple lacunar infarctions, white matter degeneration, and multiple microbleeding lesions. Genetic testing report showed a heterozygous mutation in the HTRA1 gene (c.1174T > C). All of above results are consistent with the diagnosis of heterozygous HTRA1-related hereditary cerebral small vessel disease.

Key words: HTRA1; Heterozygous mutation; Hereditary cerebral small vessel disease

摘要： 本文对1例60岁男性轻度认知障碍、头晕患者的临床症状、影像学和基因检测结果进行分析。该患者既往有高血压、高脂血症、高尿酸血症病史，以及长期吸烟、饮酒史，其母亲曾患痴呆，头颅MRI示多发腔隙性脑梗死、脑白质变性和多发微出血病灶，基因检测报告示HTRA1基因c.1174T>C杂合突变，以上结果符合HTRA1基因杂合突变相关遗传性脑小血管病的诊断。

关键词: 高温相关丝氨酸蛋白酶A1; 杂合突变; 遗传性脑小血管病

ZU Yu, YU Shasha, ZHANG Yujing, LYU Jing, FENG Xuedan. Heterozygous HTRA1-related Hereditary Cerebral Small Vessel Disease: A Case Report and Literature Review[J]. Chinese Journal of Stroke, 2023, 18(9): 1054-1059.

祖煜, 于莎莎, 张玉婧, 吕晶, 冯雪丹. HTRA1基因杂合突变相关遗传性脑小血管病1例并文献复习[J]. 中国卒中杂志, 2023, 18(9): 1054-1059.

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