Abstract:

Objective: To analyze the clinical characteristics of 2 young patients with cerebral microhemorrhage as the main manifestation of cerebral small vessel disease (CSVD), and explore the relationship between the cerebral microhemorrhage and cognitive dysfunction. Methods and Results: Both 2 patients were male, 39 years old, and had onset in their youth, diagnosed with cognitive dysfunction as the main complaint, all of them had a history of hypertension. The clinical manifestations were cognitive decline, including Case 1 with 28 score on Mini-Mental State Examination (MMSE) and 21 score on the Montreal Cognitive Assessment (MoCA). The MMSE of Case 2 was 26 score, the MoCA was 22 score, and Clinical Dementia Rating Scale (CDR) was one score. Laboratory tests ruled out other causes of cognitive dysfunction. The imaging findings of the 2 patients were mainly cerebral microhemorrhage. Among them, the cerebral microhemorrhage of the patient in Case 1 was located in the cortex and subcortex, mainly distributed in the cortex. In Case 2, cerebral microhemorrhage was mainly located in the deep brain. No genetic variation was found to be associated or partially associated with the clinical phenotype. Finally, Case 1 was diagnosed with CSVD, and the possibility of amyloid cerebrovascular disease was high. Case 2 was diagnosed with vascular dementia (VaD) related to CSVD. Conclusions: The number and location of cerebral microhemorrhage are closely related to cognitive dysfunction in young people, but the cause of cerebral microhemorrhage needs to be further clarified.

Key words: Cerebral small vessel disease, Cerebral hemorrhage, Cognition disorders, Hypertension, Young adult

摘要：

目的: 总结2例青年期发病的以脑微出血为主要表现的脑小血管病患者临床特征，探讨脑微出血与认知功能障碍之间关系。方法与结果: 2例患者均为男性，39岁，青年期发病；以认知功能障碍为主诉就诊，伴高血压病史。临床表现为认知功能减退，例1简易智能状态检查量表评分28分、蒙特利尔认知评价量表评分21分；例2相应评分分别为26和22分，认知综合评价临床痴呆评价量表评分1分。实验室检查排除其他原因导致的认知功能障碍。影像学检查主要表现为脑微出血，例1脑微出血灶位于皮质及皮质下，以皮质分布为主；例2病灶主要位于脑深部组织。基因检测均未发现与临床表型相关或部分相关的基因变异。最终例1诊断为脑小血管病，淀粉样脑血管病可能；例2诊断为脑小血管病相关血管性痴呆。结论: 青年人脑微出血灶数量及部位与认知功能障碍关系密切，但脑微出血原因有待进一步明确。

关键词: 大脑小血管疾病, 脑出血, 认知障碍, 高血压, 青年人