以脑微出血为主要表现的青年脑小血管病相关认知功能障碍两例并文献复习

Cognitive dysfunction related to cerebral small vessel disease in young people with cerebral microbleeds as the main manifestation:two cases report and literature review

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。

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.