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(Departement of Radiology,Tongji Hospital, Tongji Medical College,Huazhong University of Science & Technology, Wuhan 430030， China)



MRI findings of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

HUYing，ZHANGShun,YAOYihao,LIUChengxia,LIJuan，ZHUWenzhen*

(DepartementofRadiology,TongjiHospital,TongjiMedicalCollege,HuazhongUniversityofScience&Technology,Wuhan430030，China)

Objective To investigate the conventional and functional MRI findings of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Methods Clinical and MRI data of totally 10 patients with CADASIL were retrospectively analyzed. All of 10 cases underwent conventional MRI plan scan， including 4 of them underwent plan scan and enhanced scan. And there were 8 cases underwent DWI， 4 cases underwent enhanced gradient echo T2 star weighted angiography (ESWAN)， 3 cases underwent diffusion kurtosis imaging (DKI)， 3 cases underwent arterial spin labeling (ASL) scan and 2 cases underwent MRS. Results Conventional MRI： CADASIL lesions manifested as symmetric abnormal signals involved bilateral frontal lobe and external capsule in 10 cases， temporal lobe， corona radiate and basal ganglia in 9 cases, temporal pole in 8 cases, occipital lobe and parietal lobe in 8 cases, brain stem in 6 cases and callosum in 4 cases. No enhancement was found in all 4 cases underwent conventional enhanced scan. DWI: Abnormal high signals were found in totally 5 of 8 cases. ESWAN： Multiple plaguliform low signals of right lentiform nucleus, right lobus insularis, left thalamus and subcortex white matter of left temporal lobe were found in 1 of 4 cases. DKI： The mean kurtosis (MK) was increased in white matter of hyperintensities on conventional MRI plan scan. ASL： The cerebral blood flow was decreased in white matter of hyperintensities on conventional MRI plan scan. MRS： The peak of N-acetylaspartate (NAA) in lesion foci was descend. And the lactic acid (Lac) peak was found. Conclusion MRI findings of CADASIL are characteristic. The lesions mainly involve subcortical structure, temporal pole, external capsule, callosum and brain stem. The functional MRI is helpful for qualitative diagnosis.

Cerebral autosomal dominant arteriopathy； Brain infarction； Leucoencephalopathy; Gene diagnosis； Magnetic resonance imaging

伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy， CADASIL)是一种由NOTCH3基因突变引起的单基因遗传性疾病[1-2]。1977年由Sourander等[1]首次发现，1993年Tournier-Lasserve等[2]报道该病的基因突变位点为19q12。2000年谢淑萍等[3]报道我国首个CADASIL家系。由于CADASIL的临床表现多样，影像学表现缺乏特异性，目前仅能通过基因检测或皮肤病理活检确诊，临床极易误、漏诊。本研究回顾性分析我院2012年1月—2015年12月收治的10例CADASIL患者的临床资料及MR影像学表现，并复习相关文献，探讨CADASIL的MR神经影像检查特征及鉴别要点，以提高对本病的诊断水平。

1 资料与方法

1.1一般资料 回顾性分析2012年1月—2015年12月就诊于我院的CADASIL患者共10例，其中男6例，女4例，年龄33～66岁，平均(46.1±10.6)岁。10例CADASIL患者均经基因检测确诊(表1)，2例同期接受皮肤病理活检。1例患者发现家族史。以头昏、头痛为首发症状6例，其中2例伴记忆力下降；以突发言语不清首发者3例；以突发视物模糊及左手麻木首发者1例。10例体格检查均无特异性发现。1例合并高血压，1例合并高脂血症。

表1 10例CADASIL患者基因检测结果及临床资料

1.2仪器与方法 采用GE 3.0T Discovery 750 MR扫描仪，32通道头线圈。对10例患者均行颅脑常规MR平扫，包括矢状位及轴位T1 FLAIR序列，TR 2 992 ms，TE 23 ms，层厚5 mm，层间隔 6 mm，矩阵320×320；轴位T2WI，TR 4 650 ms，TE 106 ms，层厚5 mm，层间隔6 mm，矩阵224×320；轴位T2 FLAIR序列，TR 8 000 ms,TE 160 ms, 层厚5 mm，层间隔6 mm，矩阵256×256。对其中4例行增强扫描，扫描参数：TR 520 ms,TE 17 ms,层厚5 mm，层间隔6 mm。

另对8例加行DWI；4例加行磁敏感加权成像，采用序列为多回波重度T2*WI三维梯度回波，(enhanced gradient echo T2 star weighted angiography， ESWAN)序列；3例加行扩散峰度成像(diffusion kurtosis imaging， DKI)，测定感兴趣区(region of interest， ROI)平均峰度值(mean kurtosis， MK)；3例加行三维动脉自旋标记(arterial spin labeling， ASL)检查，测量ROI脑血流量(cerebral blood flow， CBF)；……