肝豆状核变性的脑部MRI诊断

肝豆状核变性 (ｈｅｐａｔｏｌｅｎｔｉｃｕｌｏｒｄｅｇｅｎｅｒａｔｉｏｎ)是一种少见的常染色体隐性遗传性疾病 ,现将我院确诊为肝豆状核变性的 12例脑部ＭＲＩ表现分析报告如下。1　资料与方法1 1　一般资料　本组 12例中男 7例 ,女 5例。年龄 9～37岁 ,平均 16 5岁。肝功能异常 7例 ,其中肝硬化 2例。全部病例均有不同程度锥体外系的症状和体征 ,构音障碍9例 ,肌张力障碍 8例 ,震颤 5例 ,行走不稳 2例。角膜Ｋ Ｆ环均为阳性 ,血清铜蓝蛋白 (正常 0 .2 1～ 0 .5 3ｇ/Ｌ)血清铜氧化酶活性 (正常 0 .1～ 0 .3光密度 )均低于正常。ＭＲＩ…     

儿童肝豆状核变性的MRI表现

探讨ＭＲＩ在儿童肝豆状核变性中的诊断价值。材料与方法,对临床和生化证实２０例肝豆状核变性的儿童进行胸部及腹部的ＭＲＩ检查。结果９例有脑部异常信号,异常信号分布;豆状核８例,尾状核８例,丘脑５例,胸干１例,半卵圆区１例。结论ＭＲＩ对肝豆状核变性的诊断及预后具有重要意义。     

基于体素分析技术在肝豆状核变性病变MRI研究中的应用价值

目的：探讨基于体素分析（voxel-based analysis,VBA）图像方法在肝豆状核变性（Wilson’s disease,WD）MRI研究中的应用价值。方法：通过34例WD患者和30例健康志愿者的定量磁化率成像（quantitative susceptibility mapping,QSM）和DTI数据的VBA组间比较,检出WD患者大脑铁沉积及各向异性指数（FA）值异常的脑区,分析这种方法与常规基于ROI方法研究的优势与不足。结果：WD患者较正常人,双侧丘脑、双侧豆状核、双侧尾状核、双侧红核、双侧黑质、双侧颞叶、右侧岛叶和左侧顶下小叶等脑区的铁沉积含量增加,部分白质等脑区的铁沉积含量减少;双侧丘脑的背外侧核和腹外侧核、双侧豆状核、双侧尾状核及双侧红核等脑区的FA值升高,双侧丘脑内侧核及白质等脑区的FA值降低。结论：VBA图像方法具有能够发现未知区域病变、病变区域精确定位,以及研究客观等方面的优势,是一种很有价值的WD的MRI研究方法。     

肝豆状核变性脑部MRI与临床相关性探讨

目的 :探讨肝豆状核变性脑部 MRI改变及其与临床的关系。方法 :对 9例经临床及化验证实的肝豆状核变性患者的脑部 MRI表现进行了分析。结果 :发病部位依次为壳核 10 0 % ;苍白球 88.8% ;红核 77.7% ;黑质 77.7% ;丘脑 6 6 .6 % ;齿状核 33.3% ;桥脑 2 2 .2 %。脑部 MRI主要改变为铜沉积所致的继发性长 T1 低信号和长 T2 高信号 ,由铜沉积顺磁作用直接引起的短 T2 低信号出现较少。结论 :肝豆状核变性脑部改变以继发为主 ,MRI表现与临床症状具有一定相关性意义。 FSEIR是显示病灶的最佳序列     

肝豆状核变性的脑MRI诊断

作者对８例临床确诊的肝豆状核变性脑ＭＲＩ进行了分析。结果表明异常信号分布广泛并且对称出现，以基底节、丘脑和脑干为著。病变形态及信号较具特点。Ｔ２加权像高信号较常见，其信号基础为继发于铜沉积的水肿、胶质增生或空腔，Ｔ２加权像低信号为本病特征性改变，系铜的顺磁性作用造成Ｔ２弛像时间缩短所致，它的出现对病程判断很有帮助。对ＭＲＩ与临床表现的关系也作了初步探讨。作者认为ＭＲＩ对肝豆状核变性的早期诊断、疗效     

肝豆状核变性的MRI表现及临床诊断价值

目的 探讨肝豆状核变性(WD)的MRI表现及临床诊断价值。方法 选取28例WD患者的MRI资料进行分析,主要病变位于神经系统和肝脏,患者均行3.0T MRI检查。结果 28例WD患者中脑部MRI发现异常信号16例,评分为(8.12±4.92)分,改良Young量表评分(19.27±6.13)分,相关系数为0.69,差异有统计学意义(P<0.05);其余12例为肝脏病变,其中8例患者肝脏T₁WI呈多发高信号小结节,T₂WI及T₂WI脂肪抑制序列则表现为多发低信号结节,1例多发结节表现周围更高信号的间隔包围,呈相对“蜂窝状”的特征,MRI增强扫描结节未见明显异常强化。结论 通过对高场强MRI脑型、肝型WD的信号特点分析,有助于临床早期准确的诊断,为WD的随访及疗效评估提供依据。     

肝豆状核变性的颅脑MRI表现及临床应用

目的 分析肝豆状核变性的颅脑MRI表现,评价MRI对肝豆状核变性的临床应用价值.资料与方法 回顾性分析经临床证实的82例肝豆状核变性患者的颅脑MRI资料,其中22例行DWI检查,12例行增强扫描.结果 颅脑MRI无异常发现12例,有异常发现70例,阳性率为85.4%.脑MRI异常信号发病部位依次为豆状核(63/70)、中脑(23/70)、丘脑(21/70)、桥脑(21/70)、尾状核头(15/70)、额叶(5/70)、齿状核(5/70)、胼胝体压部(4/70)、小脑中脚(1/70)、枕叶(1/70).病灶以长T1、长T2信号为主,有4例双侧苍白球等部位显示短T1、短T2信号;1例脑内广泛受累;13例显示软化灶;脑萎缩54例,其中5例仅表现为脑萎缩.结论 MRI对肝豆状核变性有很高的诊断价值,可为临床提供早期诊断和治疗依据.     

肝豆状核变性的颅脑MRI诊断（附11例报告）

肝豆状核变性是少见的常染色体基因缺陷所致的隐性遗传性铜代谢障碍疾病，最初由Wilson等于1912年作了较全面的描述，亦称Wilson病，1921年正式命名为肝豆状核变性。该病首发症状多样化，伴有多脏器损害，早期误诊率很高。近年来随着临床对本病的高度重视，以及CT、MRI，特别是MRI的普及与应用，肝豆状核变性临床发现率、早期诊断率都有所提高，本组总结11例肝豆状核变性的MRI表现并进行探讨。     

30例儿童肝豆状核变性的MRI检查及随访

目的:探讨MRI在儿童肝豆状核变性中的检查价值.材料和方法:对临床和生化证实30例肝豆状核变性的儿童进行治疗前后的脑部及腹部的MRI检查.结果:治疗前30例MRI中,19例(63.35%)病人有脑部异常信号,异常信号分布:豆状核14例(73.7%),尾状核7例(36.8%),内囊6例(31.6%),丘脑4例(21.1%),脑干3例(15.8%).4例(21.1%)有轻度或中度脑萎缩.11例(36.6%)病人肝内大量弥漫性结节状异常信号.23例(76.7%)病人有不同程度的脾脏肿大.治疗后复查,19例脑部异常信号中,17例病变变小或消失,1例没有明显变化,1例加重.11例肝脏病变中,10例病变消失或变小,1例加重.23例脾脏肿大没有明显变化.结论:MRI对肝豆状核变性的诊断及预后具有重要意义.     

肝豆状核变性的影像学表现及成像相关因素探讨

目的 研究肝豆状核变性（HLD）的CT、MR和B超表现,探讨影响影像表现的相关因素。方法 54例HLD患者中,男35例,女9例,年龄3－40岁。作CT检查29例,MR检查11例,其中两者同时检查者5例。B超检查26例。结果 （1）脑部MRI呈长T1、长T2信号9例,稍短T1、短T2信号2例。病灶位于壳核11例,尾状核8例,丘脑5例,苍白球2例,红核2例,黑质3例,大脑脚网状结构1例,脑桥桥核2例,额叶白质1例。典型者依受累部位不同,分别表现为“啄木鸟”、“八字”、“展翅蝴蝶”样改变等。（2）脑部CT检查25例中,阳性18例（72％）,阴性7例（28％）。主要表现为双侧基底节区对称性低密度影。（3）肝脏B超26例均示慢性肝病声像学改变,伴肝硬化12例,脾肿大11例,腹水9例,胆囊水肿8例,双边影5例,胆囊结石3例。结论 （1）MRI T2信号和CT密度改变与临床表现往往不相平行。T1信号可用于随访比较,但不易定量。（2）HLD几乎都有肝损害,肝损害先天脑损害;早期肝损害呈可逆性,脑损害呈对称性;中期肝损害呈静止性;后期脑损害呈萎缩性。（3）提出影响CT、MR图像表现的4对矛盾因素：代谢性全身性疾病与基因选择性亲和性;铜沉积与细胞损伤;内源性自主排铜与组织细胞修复;外源性驱铜治疗与组织细胞修复。     

早期帕金森病患者脑灰质结构异常的MRI初步研究

目的:研究早期帕金森病(Parkinson disease,PD)患者全脑灰质体积异常脑区。方法:采集1.5TMRI高分辨T1WI,运用基于体素的形态学测量技术(voxel-based morphometry,VBM)对15例早期PD患者及15例健康老年人(对照组)的大脑灰质图像进行比较,并对2组数据的灰质体积差异采用国际通用的统计参数图表示。结果:早期PD患者与对照组比较,右侧部分脑区灰质体积萎缩,包括右侧颞叶中下回、枕中回、梭状回;左侧部分脑区体积增加,包括左侧楔叶、舌回、左海马旁回、梭状回、楔前叶及中央前回。结论:VBM方法能较全面、准确、定量地反映早期PD患者存在的脑灰质体积异常区域,为早期PD患者出现复杂的非运动症状提供影像学依据。     

磁共振脑灰白质成像在脑灰质异位症中的临床应用

目的：探讨磁共振脑灰白质成像在脑灰质异位症中的诊断价值。方法：回顾性分析5例经临床及MRI检查确诊的脑灰质异位症患者，全部患者均行脑MRI常规T1WI、T2WI序列、FLAIR序列和脑灰白质成像检查。结果：5例脑灰质异位症患者在MRI各扫描序列上病灶信号与脑灰质信号完全相同，特别是在脑灰白质成像上对异位的灰质灶观察更为满意，更有利于判断病变的性质。结论：脑灰白质成像在观察灰质异位方面有独到价值，在分析癫痫病因方面可提供更直接的影像学信息。对于脑灰质异位症患者，脑灰白质成像对于帮助发现病灶并判断其性质甚为必要，是对常规序列的必要补充，具有较高的临床应用价值。     

Cranial MRI in Wilson's disease

Summary Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition — a proton-electron-dipolar-dipolar-interaction would therefor be impossible.     

MRI in the diagnosis of heterotopic gray matter

Summary This report illustrates the MR appearance of three cases of heterotopic gray matter first discovered in adulthood.     

Diffusion MRI findings in Wilson's disease.

Six patients having Wilson's disease were studied with diffusion MRI in order to characterize cerebral lesions. Diffusion MRI was obtained using the spin-echo, echo-planar sequence with a gradient strength of 30 mT/m. The trace protocol was used in the axial imaging plane. Heavily diffusion-weighted (b=1000s/mm(2)) images, and the ADC (apparent diffusion coefficient) values from automatically generated ADC maps were studied. The ADC values of the normal brain parenchyma were available in 17 age-matched cases for comparison (ADC values, 0.85+/-0.11 x 10(-3)mm(2)/s). In Wilson's disease two distinct diffusion MRI patterns were observed by quantitative evaluations of the ADC maps; cytotoxic edema-like (ADC values, 0.52+/-0.03 x 10(-3)mm(2)/s), and vasogenic edema-like (ADC values, 1.42+/-0.17 x 10(-3)mm(2)/s) patterns. Diffusion imaging appears to be a promising sequence to evaluate the changes in the brain tissue in Wilson's disease at least by revealing two different patterns.     

Alzheimer disease: measuring loss of cerebral gray matter with MR imaging

The distributions of the cerebral gray matter, the white matter, and the intracranial cerebrospinal fluid (CSF) were measured in 14 patients with Alzheimer disease (AD) and in 14 healthy control subjects. The measurements, derived from two specifically designed magnetic resonance inversion-recovery sequences, compensate for partial signal averaging. The percentage of the gray matter in the brains of AD patients (44.9% +/- 4.4) was significantly lower than in control subjects (50.2% +/- 3.2). The most significant reduction (P less than .001) occurred in the temporal lobes (13.8%) and a central region (12.8); the reduction in frontal lobe (11.2%) and occipital lobe (9.2%) was also statistically significant (P less than .01). There was an increase in the CSF volume in the temporal, occipital, and frontal regions; no region showed a significant difference in the white matter content. The findings of diffuse changes and temporal lobe involvement in AD are consistent with pathologic observations of cortical cell loss.     

Wilson's disease: MRI with clinical correlation

We tried to establish possible correlations between clinical data and MRI in a group of patients with Wilson's disease. Eleven patients (6 male, 5 female), aged between 11 and 50 years old, with a duration of illness from 5 months to 32 years, were submitted to MRI on a 1.5 T System. Three patients were asymptomatic, two had mild neurological disturbances, two were moderately affected and the remaining four had a severe form of the disease. All were receiving D-penicillamine at the time of the study. In the most symptomatic patients there were abnormalities in five or more sites on MRI. The putamen was affected in all symptomatic patients, including five with dystonia. A striking feature was the peripheral location of high signal putaminal lesions on T2-weighted images. In five cases, lesions in the corpus striatum or substancia nigra explained the patient's Parkinsonian features. MRI is an efficient method for studying involvement of the central nervous system in Wilson's disease, and allows some interesting anatomoclinical correlations.     

脑灰质异位的CT及MRI诊断

目的:分析脑灰质异位(HGM)的CT及MRI表现,加深对本病的认识,减少漏诊及误诊的分生。方法:搜集我院经临床、CT和/或MRI证实的HGM17例,CT检查9例,MRI检合5例,CT MRI检查3例,回顾性分析其影像学表现。结果:17例中,单侧12例(左侧8例,右侧4例),其中室管膜下结节型3例,混合型桥带型5例,非室管膜下结节型4例。非室管膜下结节型均为单发,额顶叶、颞顶叶、顶枕叶及半卵圆中心各1例:双侧5例,室管膜下结节型2例,其中1例合并胼胝体发育不全;室管膜下弥漫型2例,其中1例合并四叠体池及枕大池蛛网膜囊肿;非室管膜下弥漫性1例。上述病灶位于脑白质内、侧脑室室管膜下或两省均有,呈结节、团块或条带状,在CT及MRI各序列上均与脑灰质密度或信号相同。结论:HGM在CT及MRI上具有特征性的影像学表现,因MRI为多参数成像,在对不典型及小HGM的检出优于CT。