【摘要】 目的探讨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(CADASIL)患者临床表现与MRI改变之间的关系。方法对一家系同代4例患者施行常规MRI和MRA检查,并对其脑部病变的信号特征、分布范围、分布规律、脑萎缩程度及相关临床表现进行分析。其中3例(先证者及其姐妹)经Notch3基因检查和皮肤组织活检明确诊断,余1例(先证者弟)经MRI和临床检查拟诊为常染色体显性遗传性脑动脉病。结果先证者经皮肤组织活检证实血管平滑肌细胞表面存在嗜锇颗粒沉积;Notch3基因突变;临床表现为渐进性记忆力减退,伴轻度偏瘫。家系中连续2代5例于43～48岁发病,均以痴呆伴轻度偏瘫为主要表现。MRI显示多发小灶性脑梗死,脑深部白质广泛稀疏和O’Sullivan征、双侧额叶和顶叶大致对称性广泛皮质下与侧脑室旁的白质病灶、脑萎缩、皮质下腔隙性脑梗死、"人字征"、基底节和脑干形态不一的陈旧性腔隙性脑梗死、"黑洞征(black holes sign)"和"胡椒壶征(pepperpot sign)"等。简易智能状态检查量表评分先证者和其姐分别为21分和23分,其妹和弟分别为22分和29分;Coulthard评分先证者和其姐分别为32分和29分,其妹和弟分别为25分和27分。结论Coulthard评分提示CADASIL伴痴呆患者的MRI改变更为广泛,但该评分难以反映疾病早期的临床表现。更多还原

【Abstract】 Objective To investigate the relationship between the clinical manifestations and MRI changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods Four patients from the same generation in a family underwent the routine MRI and MRA. Three cases (the proband and 2 sisters) were comfirmed by the Notch3 genetic testing and skin biopsy, other one (the brother) was diagnosed as cerebral autosomal dominant arteriopathy by MRI and clinical examination. The brain lesion signal characteristic, distribution area, distribution regularity, brain atrophy and the related clinical manifestations were all analysed. Results In the proband, skin biopsy revealed granular osmiophilic materials on the surface of vascular smooth muscle cells of subcutaneous arterioles, gene testing detected Notch3 gene mutation, and clinical presentations indicated progressive memory deterioration associated with hemiparesis. There were 5 affected family members (onset at 43-48 years old) mainly with dementia and hemiparesis in 2 consequential generations. MRI showed multiple small focal cerebral infarcts, extensive white matter hypointensity at deep part of the brain and O’Sullivan sign. Approximately symmetric and extensive foci were found at the white matter of bilateral subcortex of frontal and parietal lobe and beside the lateral cerebral ventricle. Encephalatrophy, subcortical cerebral lacunar infarct, ″人″ shape sign, various old basal ganglion and brain stem lacunar infarcts, black holes sign and pepperpot sign were also seen. Mini-Mental State Examination (MMSE) scores were 21 in the proband, 23 in the elder sister, 22 in the younger sister and 29 in the brother. Coulthard scores were 32 in the proband, 29 in the elder sister, 25 in the younger sister and 27 in the brother. Conclusion Coulthard score indicates that CADASIL patients with dementia may have more extensive MRI changes, but Coulthard score can not correctly reflect the clinical manifestations in the early stage of the disease.更多还原