常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病的颅脑MRI表现

目的 提高对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)的颅脑MRI表现的认识.方法 对一家系2代5例患者进行头颅常规MR和MR血管成像(MRA)检查.对经Notch3基因检查或皮肤组织活检超微病理检查确诊的3例和经MRI与临床诊断的1例CADASIL的MRI资料进行分析.结果 MR检查的5例中4例CADASIL均获得明确诊断,1例排除诊断.4例CADASIL均见两侧颞叶、额叶和顶叶大致对称性皮层下与侧脑室旁白质病灶,呈长T1、长T2信号,但枕叶累及甚少且皮层不受累;O'Sullivan征阳性4例,皮层下腔隙性损害(SLLs)征阳性2例;3例半卵圆中心可见多发圆形或卵圆形囊性梗死即"黑洞",4例均见多发圆点状血管周间隙即"胡椒罐盖"样征象;4例全部显示胼胝体单发或多发斑片状显著长T1、长T2信号,其中2例伴萎缩;内囊前肢与外囊均受累,呈"人"字征;基底节和脑干可见单发或多发陈旧性腔隙性梗死灶;1例伴右侧小脑小片状梗死灶;4例全部有轻度至中度的脑干、小脑和大脑萎缩;MRA颅内Ⅰ-Ⅲ级较大动脉均未见明显异常.结论 CADASIL的颅脑MRI表现具有一定的特征性,可为CADASIL的初诊和筛选提供重要依据.     

Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison

PURPOSE: To differentiate lesion patterns in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from those in patients with sporadic subcortical arteriosclerotic encephalopathy (sSAE). MATERIALS AND METHODS: Magnetic resonance (MR; T2-weighted and fluid-attenuated inversion-recovery) images obtained in 28 patients with CADASIL were compared with images obtained in 24 patients with sSAE by using an automated pixel-based group comparison with statistical parametric mapping and regional semiquantitative rating. RESULTS: Visual rating showed higher lesion scores for CADASIL in the temporal and temporopolar white matter (WM). Statistical parametric mapping group analysis independently revealed more extensive bilateral involvement of the anterior temporal and superior frontal WM in CADASIL. There were bilateral signal intensity reductions within the dentate nucleus, deep cerebellar WM, crus cerebri, and thalamus. Lesions extended remarkably more often into arcuate fibers in the temporopolar and paramedian superior frontal lobes in CADASIL. Linear discriminant analysis was used to classify 96% (50 of 52) of the cases correctly, with temporopolar WM and arcuate fiber involvement contributing most to the discrimination function. CONCLUSION: The presented MR imaging criteria are useful in the diagnostic work-up in patients with leukoencephalopathy and help to differentiate CADASIL from sSAE. The observed pattern of vulnerability in CADASIL suggests future directions for research in the pathophysiology of this disorder. In addition, the study demonstrates the potential of automated image analysis to explore MR imaging lesion patterns.     

The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features

BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition causing recurrent subcortical strokes. MR imaging, which shows focal lacunar infarcts and leukoaraiosis, plays a central role in the diagnosis and evaluation. We studied MR imaging abnormalities in a large prospectively recruited cohort of CADASIL patients to describe the spatial distribution of abnormalities, determine how this distribution alters with age, and identify any correlations with the clinical features of the disease. METHODS: In this study, 112 CADASIL subjects from 64 families were prospectively recruited. MR imaging scans were graded by a single neuroradiologist, by using the modified Scheltens scale, to quantify the severity of high-signal-intensity changes in different brain regions. RESULTS: Lesion load increased progressively with age. Scores were maximal in the frontal, parietal, and anterior temporal cortex, and the external capsule; intermediate in the pons; and relatively low in the corpus callosum, caudate, globus pallidus, cerebellum, midbrain, and medulla. Anterior temporal pole involvement was common at all ages and, when present, usually confluent, but this was absent in 33% of patients 20-29 years of age. A history of stroke correlated with total Scheltens score and internal capsule and pontine scores. Dementia correlated with total Scheltens score and subcortical white matter score, whereas depression correlated with subcortical white matter score but not total Scheltens score. CONCLUSIONS: There is a characteristic pattern of MR imaging abnormalities in CADASIL that aids in differential diagnosis; however, some characteristic features, such as anterior temporal pole involvement, can be absent. MR imaging lesion load correlated with some clinical features including stroke and dementia, whereas depression is more common in individuals with deep white matter changes.     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: structural MR imaging changes and apolipoprotein E genotype

BACKGROUND AND PURPOSE: Apolipoprotein E (apoE) genotype plays an important role in the development, maintenance, and response to injury of the central nervous system. It has been suggested that apoE epsilon4 genotype is a risk factor for several neurologic disorders. We investigated the correlation between the apoE genotype and radiologic data in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: T1-weighted, dual fast spin-echo, T2*-weighted gradient echo, and fluid-attenuated inversion recovery MR imaging scans were obtained from 36 CADASIL patients (21-59 years of age). The number of lacunar infarcts and microbleeds and the presence of subcortical lacunar lesions were determined. The amount of white matter hyperintensities was assessed by using semiautomated segmentation software. The relation between the radiologic endophenotype of CADASIL and the apoE genotype was assessed by using a Student t test for unpaired data and Fisher exact test. RESULTS: White matter hyperintensities, lacunar infarcts, microbleeds, and subcortical lacunar lesions were not found to be associated with the presence of an epsilon4 allele. CONCLUSION: The variability of structural MR imaging lesions in CADASIL is independent of apoE genotype and other processes must underlie the variable natural history of the disease.     

伴皮质下梗死和白质脑病常染色体显性遗传性脑动脉病CT平扫特点

目的：探讨伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）CT平扫特点。方法：对8例经临床、MRI、病理学及基因检查确诊为CADASIL患者的CT平扫资料进行回顾性分析。结果：CADASIL患者脑CT平扫特点主要表现为颞极、额叶前部白质疏松,可伴有腔隙性梗死灶,随年龄增长上述病灶逐渐加重。结论：CADASIL病例CT平扫存在特征性的脑白质病变,CT对该病的筛选有重要作用。     

老年人皮质下动脉硬化性脑病的病理学基础和CT,MRI对照研究

本文就２６例皮质下动脉硬化性脑病患者的ＣＴ、ＭＲＩ检查结合病理学基础进行了分析。ＭＲＩ检查，当ＴＲ＝２０００ｍｓｅｅ，ＴＥ＝３０、６０ｍｓｅｃ时，皮质动脉硬化性脑病损害均为明显的高信号，Ｔ１加权像为低信号。ＣＴ像为低密度改变。Ｔ２加权像上半卵圆中心的白质表现为不均匀弥漫的高信号区，可累及基底节、丘脑、脑干及小脑的白质，并有不同程度的侧脑室扩大、脑室边缘呈斑片状改变可有脑萎缩。病理学特征是弥漫不完全     

Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

PURPOSE: To assess the prevalence and distribution of subcortical lacunar lesions (SLLs) in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to determine whether SLLs are an abnormal finding by studying their prevalence in healthy subjects, and to assess whether SLLs occur in other conditions associated with small vessel disease and white matter areas of high signal intensity (WMH). MATERIALS AND METHODS: The presence of SLLs, their location, and their relation to other abnormalities were assessed on magnetic resonance (MR) images (T1-weighted, T2-weighted, and fluid-attenuated inversion-recovery) obtained in 34 CADASIL patients and 20 healthy family members. Three additional control groups of healthy volunteers, elderly patients with vascular risk factors, and patients with another hereditary small vessel disease were also screened for the presence and location of SLLs. Sensitivity and specificity of the presence of SLLs for the diagnosis of CADASIL were assessed. RESULTS: SLLs were found in 20 (59%) of CADASIL patients. Incidence of SLLs increased with age (20%, <30 years; 50%, 30-50 years; 80%, >50 years). SLLs invariably occurred in the anterior temporal lobes and in areas where diffuse WMH expanded into arcuate fibers. From the anterior temporal lobe, the lesions could extend dorsally into the temporal lobes and rostrally into the frontal lobes. Lesions were not found in the parietal and occipital lobes. None of the control subjects had SLLs. Specificity and sensitivity of SLLs for CADASIL were 100% and 59%, respectively. CONCLUSION: SLLs are an abnormal finding at MR imaging that frequently occur in CADASIL patients.     

Preliminary experience of magnetic resonance imaging in neurosarcoidosis

Summary Twelve MR scans performed on seven patients with neurosarcoidosis are presented. The most common abnormalities were ventricular enlargement (four patients) and diffuse periventricular white matter changes (three patients). Infarcts were seen in three patients and mass lesion in one. The lesions were seen in both T1 and T2 weighted images. The results are compared with CT findings. MRI seems to be more sensitive than CT in detecting white matter changes and infarcts. Ventricular enlargement and granulomas were equally well seen with both modalities.     

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病患者的MR定量指标及其与临床的关系

目的 对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)患者的白质高信号和脑体积进行定量分析,并探讨其与临床的关系.方法 15例通过病理检查确诊为CADASIL的患者进行常规MR扫描,统计脑半卵圆中心、内囊后肢、外囊、胼胝体和颞极白质受病变累及情况.利用计算机后处理软件计算标准化颅脑体积和白质高信号占颅脑体积的百分比,并与年龄、美国国立卫生研究院卒中量表(NIHSS)和简易精神状态检查(MMSE)量表评分进行Spearman相关性分析.结果 CADASIL患者的白质病变累及部位依次为:半卵圆中心(13/15)、颞极白质(10/15)、外囊(8/15)、内囊后肢(5/15)、胼胝体(4/15).白质高信号占颅脑体积的百分比为(5.7±1.4)%,标准化颅脑体积为(1602±58)×103mm3.年龄与标准化颅脑体积呈负相关(r=-0.555,P＜0.05);白质高信号百分比与NIHSS、MMSE量表评分分别呈正、负相关(r=0.522,P＜0.05;r=-0.679,P＜0.01);标准化颅脑体积与NIHSS评分呈负相关(r=-0.624,P＜0.05).结论 CADASIL患者的白质高信号和脑体积可以定量测量,这两种影像学指标可以在一定程度上反映患者的病情.白质高信号的发展可能预示患者认知功能的下降.     

脑脂肪栓塞的CT和MRI诊断(附3例分析)

目的 :分析脑脂肪栓塞 (CFE)的CT和MRI表现 ,以提高对此病的早期诊断。方法 :对 3例CFE患者的临床及CT和MRI资料进行分析。结果 :3例CFE患者CT检查均为阴性 ,MRI示双侧额叶皮层下脑白质区、基底节、放射冠、半卵圆中心区多发散在点状异常信号影 ,1例T1WI表现为低信号 ,2例未见异常 ,3例T2 WI均表现为点状较高信号 ,DWI上 3例均有点状高信号。结论 :有近期骨折病史者 ,一旦出现神经系统症状 ,要想到CFE的可能 ,应早期行颅脑MRI检查 ,常规选择T1WI、T2 WI和DWI多种序列成像技术进行检查。     

2个CADASIL患者的弥散张量成像与20例正常人的比较

目的　分析2例CADASIL患者的MR特点及弥散张量指标的变化。方法　收集2例通过病理和基因检查确诊为CA DASIL的先证者的临床资料,对其进行常规MR扫描和弥散张量成像,将弥散张量成像的指标与20例正常志愿者的指标进行比较。结果　2例CADASIL患者的MR主要表现为双侧额顶叶白质内多发腔梗、脱髓鞘改变和双侧颞叶前部白质脱髓鞘。1例患者双侧外囊、内囊后肢、胼胝体膝部和压部的部分各向异性(FA)值均小于正常组的平均值减去2倍标准差,另1例患者左侧外囊的FA值小于对照组的平均值减去2倍标准差。结论　常规MR表现和弥散张量成像指标的测量均反映了CADASIL患者中存在严重的白质病变。     

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: decrease in regional cerebral blood volume in hyperintense subcortical lesions inversely correlates with disability and cognitive performance

BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an arteriopathic syndrome related to a genetic defect on chromosome 19. Characteristic changes in CADASIL can be observed onT2-weighted MR images in the subcortical white matter. The purpose of this study was to measure changes of regional cerebral blood volume (rCBV) with dynamic contrast-enhanced MR imaging and to correlate the changes to disability and cognitive performance. METHODS: We obtained rCBV measurements of 24 individuals with proven CADASIL on a 1.5-T MR imaging unit. A susceptibility-weighted MR imaging sequence was used for bolus tracking. Principles of the indicator dilution theory were applied to estimate values of absolute rCBV (mL/100 g). Disability was determined by using the Rankin scale, and overall cognitive performance was assessed by using the Mini-Mental State Examination. RESULTS: The mean rCBV in the subcortical white matter that was hyperintense on the T2-weighted images (2.7 +/- 0.8 mL/100 g) was significantly lower than the rCBV in the white matter that appeared normal on the T2-weighted images (4.4 +/- 1.3 mL/100 g) (P <.05). The mean rCBV in the gray matter was within the normal range (8.3 +/- 1.7 mL/100 g). Both cognitive impairment and disability negatively correlated with rCBV in the subcortical white matter that was hyperintense (P <.05) but not with rCBV in the normal appearing white matter. rCBV did not correlate with age. CONCLUSION: rCBV measured in the hyperintense subcortical white matter in individuals with CADASIL was decreased and inversely correlated with disability and cognitive impairment.     

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene. Received: 17 February 1999 Accepted: 23 July 1999     

儿童多发性硬化的临床特点及MRI特征

目的 探讨中国儿童多发性硬化(MS)的临床孤立综合征( CIS)和复发时的临床及MRI特征.方法 回顾性分析16例MS患儿的首次发作及复发时临床及影像学资料.随访时间4个月至7年,期间患儿复发次数为1～5次.由1名儿科神经医师对CIS及复发的临床表现进行了归类总结.由1名资深神经影像学医师对患儿CIS及复发的头颅MRI表现进行分析,内容包括病灶的位置、大小、分布.病灶位置的分析包括皮层、皮层下白质、中央白质、脑室旁白质、深部灰质核团以及脑干和小脑.结果 (1)临床表现:儿童MS发病急,CIS以皮层症状及视觉障碍表现多见,14例1年以内复发,复发时皮层症状减少,而视觉症状仍较多,随访时康复良好.(2)颅脑MRI表现:CIS时,13例出现皮层下白质病灶,且大片融合,与中央白质病灶相连,好发部位依次为额、顶叶.皮层9例受累.10例可见中央白质病灶.6例可见脑室旁白质小病灶.4例可见对称性深部灰质核团病灶.5例可见脑干病灶.3例可见小脑病灶.3例可见视束或视神经肿胀、增粗.2例可见锥体束异常信号.1例可见胼胝体病灶.复发时,12例可见皮层下病灶,较CIS时数量增多,以小病灶为主.9例可见中央白质病灶,病灶大小较前减小.8例可见脑室旁病灶,病灶数量较CIS时增多.仅有2例出现皮层病灶.5例出现小脑病灶.4例可见脑干病灶.6例可见锥体束病灶,发生率较CIS时明显增多,且出现“轨道征”.结论 儿童MS的MRI表现具有一定特征,CIS时额、顶叶皮层下白质病灶融合成大片并常累及中央区白质,复发时有时可见“轨道征”,结合临床可以提高对儿童MS诊断的正确性.     

Hemodynamically caused cerebral infarctions. Clinical importance of infarct pattern and angiomorphology

Summary Classification of brain infarcts based on the location, size and shape of parenchymal damage alone can be difficult and misleading. This is particularly true in subcortical infarctions and infarcts in so-called watershed areas between neighboring territories of the main hemispheric arteries. Pathogenetic mechanisms, signs and symptoms, lesion patterns in CT and MRI are discussed as well as angiomorphological conditions. Hemodynamically induced low-flow infarcts are rare and show typical, but not pathognomic lesion patterns on CT and MRI. Characteristic subcortical chainlike and confluent lesions are located in the supra- and paraventricular white matter, representing the core of a hemodynamically induced infarction. Definite diagnosis of low-flow infarcts requires information on the underlying complex vascular compromise of the extra- and intracranial arterial circulation. A noncompetent circle of Willis is the main predisposing condition in hemispheric low-flow infarcts even in severe occlusive disease of the internal carotid arteries.      

Persistent aura and status migrainosus in CADASIL syndrome: A case report

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy characterized by a genetic predisposition to small arteries of the brain. It is produced by a mutation in the NOTCH3 gene and concerns adults. The symptomatology is diversified including migraines with or without aura, subcortical ischemic events, and cognitive impairment. The diagnosis of CADASIL is suspected by neuroimaging and confirmed by genetic testing. Treatment of the disease remains preventive. We report a case of CADASIL manifesting as status migrainosus with persistent aura.     

大脑中动脉狭窄相关的脑梗塞20例临床分析

目的：分析了２０例大脑中动脉（ＭＣＡ）狭窄相关的脑梗塞患者的临床中风模式与神经影像（ＣＴ／ＭＲＩ）特点。方法；对经颅多普勒超声（ＴＣＤ）等确诊的２０例ＭＣＡ狭窄的脑梗塞患者进行临床与神经影像的对比分析，结果：２０例中，腔隙综合征１０例（５０％），ＣＴ／ＭＲＩ显示无病灶２例（１０％），基底节和内囊腔隙性脑梗塞８例（４０％）非腔隙综合征１０例（５０％），ＣＴ／ＭＲＩ显示ＭＣＡ皮层无梗塞９例（４５％），     

Imaging findings in intracranial aspergillosis

RATIONALE AND OBJECTIVES: The authors' purpose was to elucidate the various computed tomographic (CT) and magnetic resonance (MR) imaging findings in intracranial aspergillosis. MATERIALS AND METHODS: Retrospective analysis of cranial imaging findings was performed in eight proved cases of central nervous system aspergillosis. The patients ranged in age from 17 to 75 years. Four patients were immunocompromised, and four were immunocompetent. CT was performed in all eight patients, and MR imaging in five. RESULTS: Six patients (75%) had multiple lesions seen on the imaging studies, with a total of 27 focal brain lesions demonstrated. The lesions were most commonly seen in the cerebral hemispheres (n = 21), with lesser involvement of the basal ganglia (n = 2) and the posterior fossa (n = 4). Seven lesions were hemorrhagic on CT and/or MR images. There was a correlation between lesion size and hemorrhage, with hemorrhage more likely in larger lesions (>15 mm). At pathologic examination, foci of hemorrhage were noted within both infarcts and abscesses. Enhancement was noted in five lesions, four of which were confirmed abscesses. Contrast enhancement of the lesions was vague and week in immunocompromised patients but solid and strong in immunocompetent patients. There were 18 lesions without hemorrhage or enhancement; they were either infarcts or abscesses at pathologic examination. Some of these small nonhemorrhagic nonenhancing brain lesions in the subcortical white matter mimicked lacunar infarcts. CONCLUSION: Typical imaging findings of intracranial aspergillosis include multifocal lesions involving the cerebral hemispheres, with hemorrhage in approximately 25% of lesions. Lesional contrast enhancement tends to be stronger in immunocompetent hosts.     

MRI of the brain in the Kearns- Sayre syndrome: report of four cases and a review

We report brain MRI findings in four patients with typical Kearns-Sayre syndrome (KSS) and correlate them with clinical manifestations. MRI was interpreted as normal in two patients; cerebral and cerebellar atrophy was seen in the other two. On T2-weighted spin-echo images, two patients had high-signal lesions bilaterally in subcortical white matter, thalamus and brain stem. In one patient, the white matter lesion extended into the deep cerebral white matter and the cerebellum was also affected. The other also had bilateral high-signal lesions in the globus pallidus. There was little correlation between neurological deficits and MRI findings. A review of the literature revealed that 10 of the 13 patients with typical KSS previously studied had bilateral subcortical white-matter lesions on T2-weighted images; at least 7 also had high-signal lesions in the brain stem, globus pallidus, thalamus or cerebellum. Although MRI may be normal or show atrophy, the characteristic finding in KSS is a combination of the high-signal foci in subcortical cerebral white matter and in the brain stem, globus pallidus or thalamus. Received: 23 October 1998 Accepted: 8 February 1999     

SURF-1基因604G→C突变所致Leigh综合征的MRI表现

目的 探讨SURF-1基因604G→C突变引起的Leigh综合征(Leigh syndrome,LS)的MRI表现.方法 对8例确诊为SURF-1基因604G→C突变的Ls患儿进行头颅MR检查,观察基底节、下丘脑、脑干及小脑灰质核团,大小脑白质异常及萎缩情况,并与典型LS患儿MRI改变进行比较.结果 3例Ls患儿MRI表现为脑干和下丘脑核受累,其中2例同时合并基底节异常;3例仅有大脑白质异常信号,无灰质核团受累;8例均存在脑萎缩,其中2例仅表现为单纯的脑萎缩,无灰质核团受累及白质异常.结论 SURF-1基因604G→C突变患儿的MRI表现具有多样化的特点.