DWI、MRS和CASL-PWI联合应用在MELAS型线粒体脑肌病诊断中的价值

目的 明确扩散加权成像(DWI)、磁共振波谱成像(MRS)和连续动脉自旋标记(CASL)灌注成像(CASL PWI)等无创性检查的联合应用在线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)诊断中的应用价值.资料与方法 2例MELAS患者,除了常规MRI检查序列,补充了DWI、MRS和CASL-PWI.结果 在MELAS急性期,DWI显示病灶呈略低信号,MRS显示乳酸峰升高,在看似正常的脑组织中乳酸峰亦轻度升高.CASL-PWI显示病灶为高灌注.结论 通过DWI、MRS和CASL-PWI等无创性检查联合应用对于MELAS有极大诊断价值,并且可以鉴别MELAS急性期与脑梗死急性期.     

成人线粒体脑肌病的MRI和1H-MRS诊断价值

目的 分析MRI和1H-MRS对线粒体脑肌病的诊断价值.方法 经病理活检确诊的 6例成人 (男3例,女3例)线粒体脑肌病患者采用1.5T磁共振仪扫描,其中3例行1H-MRS检查,并分析MRI和1H-MRS的表现. 结果6例线粒体脑肌病患者MRI显示病变累及多个脑叶,多位于皮层及皮层下白质,并可同时累及大脑深部灰质和大脑皮层.脑梗死样病灶呈斑片状或楔形,非对称性.T1WI为低信号或等低信号,T2WI为高信号.急性期病变区域脑组织轻度肿胀,慢性期全脑萎缩,并可见皮质层状坏死.4例行MR增强扫描未见强化.3例1H-MRS检查均显示病灶内Lac峰明显升高和NAA峰不同程度的降低.结论 线粒体脑肌病MRI表现具有一定的特征,1H-MRS可提供更多脑组织代谢信息,对本病诊断具有重要的价值.     

扩散成像和磁共振波谱对MELAS诊断价值的初步研究

目的:探讨扩散成像(DWI、DTI)和磁共振波谱(1H-MRS)对MELAS患者的诊断价值。材料和方法:采用3.0T磁共振,对5例经病理证实的MELAS患者进行常规磁共振及DWI、DTI和1H-MRS检查。结果:5例MELAS患者常规磁共振可见大脑皮层多发脑回状长T1长T2及高FLAIR异常信号,增强扫描无强化,病灶具有游走和复发特点。DWI病变区呈稍高信号,ADC图呈稍高或稍低或混杂信号;DTI显示白质纤维信号减低;1H-MRS可见NAA峰降低,高大Lac峰出现。病灶区与对侧正常区比较ADC值增高(P<0.05),FA值降低(P<0.01),NAA/Cr降低(P<0.05),Lac/Cr明显增高(P<0.01)。结论:常规磁共振发现大脑皮层反复出现的多发游走性无强化病灶,要考虑到MELAS型线粒体脑肌病的可能性,DWI结合ADC图有助于明确MELAS的病理损害性质,DTI可直观显示白质纤维破坏程度,1H-MRS检测到异常高大Lac峰是支持MELAS的重要辅助依据。     

多模态磁共振成像对儿童线粒体脑肌病综合征的鉴别诊断价值

目的分析儿童线粒体脑肌病(MELAS)综合征的多模态影像学特点,探讨功能成像技术的鉴别诊断价值。方法回顾性分析8例经过临床、基因检测证实的MELAS患儿的完整磁共振成像(MRI)资料,包括脑MRI平扫、增强、磁共振血管成像(MRA)、扩散加权成像(DWI)、波谱成像(MRS)、动脉自旋标记灌注成像(ASL)。结果病变主要分布于双侧枕顶叶脑皮质或皮质下区域,病灶在T1WI上呈低信号,在T2WI上呈高信号,在急性期DWI上呈等或高信号,ADC图呈现低或高信号,增强扫描呈脑回样强化或不强化。5例双侧病变,3例表现为对称性,3例复查发现,额、顶叶出现新发病变,原发病灶萎缩改变,呈多变性、游走性。2例MRA显示双侧大脑中动脉分支增多,其余未见明显异常。4例经ASL检查,急性期病变呈高灌注,MRS均在病灶区及正常区均可见升高的乳酸双峰。结论儿童MELAS综合征容易误诊,脑功能影像具有特征性,多模态MRI对儿童MELAS综合征的早期鉴别诊断有重要价值。     

线粒体脑肌的MRI表现特征及其诊断价值

目的:总结线粒体脑肌病的MRI表现特征并分析磁共振在线粒体脑肌病诊断中的价值。方法:搜集2005年1月～2007年7月经临床及病理证实的线粒体脑肌病患者资料21例,男5例,女16例。所有病例均行常规MRI检查(平扫加增强扫描),7例患者行磁共振波谱检查。结果:21例中有17例患者脑内病灶均表现为T1WI低信号、T2WI高信号,病变主要累及颞、顶、枕叶皮层、及深部灰质核团(以基底节多见),部分患者伴有不同程度的脑萎缩,病灶对称或不对称,且具有多发性,迁移性和与血管分布区不一致性;4例患者头部常规扫描仅见轻度脑萎缩。FLAIR及DWI序列能更清楚和准确显示较隐匿的病灶,7例磁共振波谱检查表现为病变区、无信号异常的脑区和/或脑室系统均可见较特征性的乳酸峰。结论:线粒体脑肌病的MRI表现有一定的特征性,磁共振成像(包括DWI、FLAIR、MRS)在线粒体脑肌病的诊断、鉴别诊断以及对该病代谢物改变的检测方面均具有重要的价值。     

多模态影像学检查诊断MELAS综合征的价值分析

【摘要】目的：探讨MELAS综合征的CT和MRI表现及临床特点及多模态影像学检查对MELAS综合征的诊断价值。方法：回顾性分析21例经基因检测或肌肉活检确诊的MELAS综合征患者的CT和MRI表现及临床特点。结果：21例中9例具有MELAS综合征的典型三联征表现（癫痫发作、乳酸性酸中毒及卒中样发作）,其余12例仅有1种或2种症状。所有患者均行颅脑MRI检查,最常累及部位为颞顶枕叶皮层,其中累及单侧者7例,累及双侧者13例;9例行MRS检查,均可见病变区明显升高的倒置乳酸峰,同时伴NAA峰降低;8例行MRA或CTA检查均未见颅内大血管异常改变;13例行DWI检查,均显示病变部位呈扩散受限改变;7例患者随访复查MRI,可见颅内病灶具有“此消彼长”的特点。结论：颅脑多模态CT和MRI检查结合典型的临床表现,可对MELAS综合征患者的早期诊断及鉴别诊断提供帮助。     

线粒体脑肌病伴高乳酸血症和脑卒中样发作综合征的MRI表现与研究进展

线粒体脑肌病伴高乳酸血症和脑卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes,MELAS)综合征是以线粒体功能异常为诱因,累及多系统的少见代谢性疾病。该病累及神经系统时的急性期临床表现与脑卒中较为相似,病灶主要发生于顶枕叶皮层区,同时颅内血管成像一般无明显狭窄,有时甚至轻度扩张,结合相应的临床诊断标准,容易诊断该病,但当     

脑梗死~1H磁共振波谱研究初探

目的 :初步探讨脑部1H磁共振波谱分析对脑梗死治疗和预后的价值。材料和方法 :22例脑梗死患者行32次常规MRI和1H -MRS检查。MRS检查采用PRESS序列 ,对病变区和对侧半球相应部位进行测量。主要观察的代谢物为NAA ,Cr,Cho和Lac。病灶NAA ,Cr和Cho的相对值以病侧和对侧各代谢物共振峰谱线下积分面积的比值来表示。病灶Lac的相对值则以病灶Lac和对侧Cr共振峰高度的比值来表示。结果 :超急性期脑梗死NAA下降 ,并出现Lac峰 ,而Cr和Cho无明显变化。随病情进展NAA进一步减少 ,以至消失 ;Lac峰仍持续存在 ,至慢性晚期逐渐消失 ;Cr和Cho也逐渐减少 ,但Cho减少的程度颇多变异。结论 :1H -MRS所提供的脑梗死区代谢变化对脑梗死救治时间窗口的预测可能有一定帮助。     

MELAS 综合征的 MRI 诊断

目的：回顾性分析线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的 MR 表现特点,提高对 MELAS 综合征早期诊断的能力。方法收集经临床诊断的 MELAS 综合征共16例,均由肌肉病理活检证实。所有患者均行 MR 平扫,其中3例行 ASL 扫描,15例行 MRA 检查,14例行 DWI 扫描,3例行 MRS 扫描,并回顾性综合分析其影像学资料。结果MRI 检查发现,本组 MELAS 综合征多表现为大脑半球各叶大小不等片状病灶,病变多位于大脑半球后部脑皮质区,向皮层下的白质蔓延,病灶的分布与脑血供分布不一致;自旋回波 T1 WI 呈低信号、T2 WI 呈高信号,FLAIR 呈高信号;DWI 呈高信号;3例行 MRS 分析提示病灶区典型乳酸峰;其中1例 MRA 检查提示病灶区分支血管增多,1例分支血管减少;3例行 ASL 检查提示病灶区高灌注。16例中4例随访病灶具有游走性、多变性、此起彼伏等表现,旧病灶有脑萎缩、脑软化等表现。16例行肌组织活检见破碎样红纤维(RRF);电镜见线粒体体积增大、数量增多,肌纤维粗细不等,少数萎缩变细。3例行线粒体基因测序发现线粒体 DNA(mtDNA)A3243G 点突变。结论DWI、MRS 及 ASL 在 MELAS 综合征诊断中具有良好的价值。     

成人线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征浅析

目的探讨成人MELAS综合征的临床表现和影像特点,提高对该病的认识,减少误诊。方法复习线粒体脑肌病相关文献,回顾性分析2例经肌肉病理活检证实的MELAS综合征病人的临床和影像资料。结果病人均为卒中样起病伴癫间发作。影像检查提示:1不对称累及颞顶枕叶的"脑梗死"样病灶:CT示片状低密度影,MRI示片状稍长T1稍长T2信号,FLAIR呈高信号,扩散加权成像(DWI)呈高信号,表观扩散系数(ADC)图呈稍低信号;2病变同时累及大脑中动脉及大脑后动脉供血区;3MR血管成像(MRA)未见相应供血动脉狭窄或闭塞;4灌注加权成像(PWI)显示病变区异常高灌注;5磁共振波谱成像(MRS,TE=135 ms)示病灶区明显倒置的乳酸峰。实验室检查示血和脑脊液中乳酸含量明显升高。肌肉活检(改良Gomori Trichrome染色,MGT)示细胞内散在破碎红纤维。2例均确诊为MELAS综合征。基因检测线粒体DNA(mt DNA)A3243G点突变情况,病例1呈阴性,病例2呈阳性。病例1的病人于首次发病1年后复发,新发病灶向颞极迁移,原发病灶累及脑区萎缩。结论MELAS综合征临床较为罕见,临床表现和影像改变具有一定的特征,多模态MRI检查对本病的临床诊断具有重要的价值。最终确诊依赖于肌肉病理组织学检查。     

Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy,lactic acidosis,and stroke-like events

The mechanism of neurological disturbances in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is controversial. We studied 12 patients with MELAS using conventional and diffusion weighted MRI (DWI) and MR spectroscopy (MRS), to look at the physiopathology of the stroke-like events. Although conventional MRI showed lesions in all patients, DWI was more sensitive. One patient did not show high signal on DWI 48 h after a from stroke-like episode, but MRS demonstrated a lactate peak in left occipital lobe; 2 weeks after the attack, high signal was demonstrated on the right frontal lobe where MRS had shown a lactate peak. Our findings suggest a possible predictive ability of ¹H-MRS, in showing early MELAS lesions and supports the hypothesis that mitochondrial metabolic dysfunction may precedes abnormalities on DWI.     

Diffusion and Perfusion Characteristics of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episode) in Thirteen Patients

Objective

We analyzed the diffusion and perfusion characteristics of acute MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) lesions in a large series to investigate the controversial changes of the apparent diffusion coefficient (ADC) that were reported in prior studies.

Materials and Methods

We analyzed 44 newly appearing lesions during 28 stroke-like episodes in 13 patients with MELAS. We performed a visual assessment of the MR images including the ADC and perfusion maps, comparison of the ADC between the normal and abnormal areas, comparison of % ADC between the 44 MELAS lesions and the 30 acute ischemic infarcts. In addition, the patterns of evolution on follow-up MR images were analyzed.

Results

Decreased, increased, and normal ADCs were noted in 16 (36%), 16 (36%), and 12 (27%) lesions, respectively. The mean % ADC was 102 ± 40.9% in the MELAS and 64 ± 17.8% in the acute vascular infarcts (p < 0.001), while perfusion imaging demonstrated hyper-perfusion in six acute MELAS lesions. On follow-up images, resolution, progression, and tissue loss were noted in 10, 4, and 17 lesions, respectively.

Conclusion

The cytotoxic edema gradually evolves following an acute stroke-like episode in patients with MELAS, and this may overlap with hyper-perfusion and vasogenic edema. The edematous swelling may be reversible or it may evolve to encephalomalacia, suggesting irreversible damage.     

MEL AS综合征的MRI和MRS表现及临床意义

目的：分析线粒体脑肌病并高乳酸血症与卒中样发作（MELAs）综合征的MRI和MRS表现,探讨MRI对该病早期诊断与鉴别诊断的临床价值。方法：回顾性分析24例经临床表现及肌肉病理活检确诊的MELAS综合征患者,24例均行常规MRI（包括T1WI平扫与增强扫描,T2WI,T2FLAIR）,14例行MRA,3例行DwI,3例行MRS。综合分析所有病例的多模态MRI特征。结果：24例（79个病灶）均出现大脑皮质或皮质下片状长T1长T2信号,以枕叶（29个）、颞叶（25个）和项叶（16个）受累为主,可双侧出现;14例MRA示病变区与动脉供血区域不吻合,4例可见血管增生;10例随访患者中7例发现病灶具有游走性;3例行DWI患者均可见扩散受限所致异常信号;TzFLAIR可同时显示新、旧病灶（呈不同程度高信号）,且所显示慢性期病灶的数目与DwI相同（2例）或更多（1例）。3例MRs均可见乳酸（Lac）峰增高,且不局限于MRI所显示的病灶内,1例较陈旧病灶可见氮一乙酰天门冬氨酸（NAA）峰降低。结论：MELAS综合征具有较特异的MRI表现;MRS提示病灶内和病灶外Lac峰增高,结合高乳酸血症,对该病早期确诊有重要价值。     

A case of MELAS showing both cytotoxic and vasogenic edema on serial diffusion-weighted imaging

In patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), T2-, FLAIR, and diffusion-weighted imaging reveal lesions as hyperintense areas after stroke-like episodes. It has been speculated that the lesions occur by vasogenic edema. However, we describe a case of MELAS which presented both normal and restricted water diffusion after stroke-like episodes, as detected by apparent diffusion coefficient map and values. Both cytotoxic and vasogenic edema can occur at acute stage after stroke-like episodes.     

Reversible decreases in N-acetylaspartate after acute brain injury

N-Acetylaspartate (NAA), which constitutes the major proportion of the dominant resonance in proton MR spectra of brain, is localized in mature brain exclusively in neurons and neuronal processes. A decrease in NAA has been observed in many cerebral pathologies and has usually been interpreted as an index of irreversible neuronal loss. The authors report a follow-up study of six patients with acute brain damage (four from demyelinating lesion and two from mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [MELAS]). All patients underwent serial MR spectroscopy examinations. The four patients with acute demyelinating lesions initially showed decreases in NAA in the centers of the lesions that ranged between 34-72% of values from homologous brain volumes in the other hemisphere. All four patients subsequently showed substantial recovery of NAA as their clinical status improved. The two patients with MELAS syndrome had large decreases of NAA signal (50% and 20% of normal values, respectively) from their occipital lobe lesions during the acute stroke-like episodes. After the acute phase of the illness a progressive increase of NAA in the same volumes was seen in both patients (to 76% and 60% of normal values, respectively). These results demonstrate that significant recovery of NAA can occur after acute brain damage. The potential contribution of reversible neuronal dysfunction (as well as neuronal loss) must be considered in the interpretation of decreases in the NAA resonance associated with acute brain pathology.     

MR imaging,MR angiography,and MR spectroscopy of the brain in eclampsia.

PURPOSETo compare the MR imaging and MR angiographic changes with in vivo proton MR spectroscopic findings and to determine the spectral differences between edema and ischemia in patients with eclampsia.METHODSSpin-echo MR imaging, MR angiography, and single-voxel proton MR spectroscopy were performed in 10 patients with eclampsia. MR studies were obtained within 3 to 5 days of diagnosis and repeated after 2 weeks with identical parameters.RESULTSMultifocal subcortical/cortical hyperintensities were noted in all 10 patients on T2-weighted images; in two patients, hyperintensities were seen in both cerebral hemispheres. In nine patients, MR angiograms showed narrowing of the major vessels constituting the circle of Willis that resolved after 2 weeks. In one patient with subtle imaging changes, MR angiography showed mild bilateral narrowing of the proximal middle and posterior cerebral arteries that did not change after 2 weeks, whereas imaging abnormalities worsened. Findings at single-voxel MR spectroscopy of the reversible T2 hyperintense lesions were significantly different from findings in the control group for N-acetylaspartate (NAA)/creatine ratios. One patient with mild abnormalities at MR imaging and MR angiography had lactate and decreased creatine and NAA, and on a follow-up study had a further decrease of NAA and creatine as well as a decrease in lactate.CONCLUSIONIn vivo proton MR spectroscopy may help to differentiate cerebral edema from ischemia in patients with eclampsia and thus may help to determine the prognosis for these patients.     

Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1

Although conventional magnetic resonance imaging (MRI) findings of glutaric aciduria type 1 (GA-1) have been well established, diffusion weighted MR imaging (DWI) and proton MR spectroscopy (MRS) findings are limited. We report widespread restricted diffusion in the white matter and increased diffusion in bilateral putamen in a case of GA-1. The MRS showed decreased N-acetyl-aspartate (NAA)/creatine (Cr) ratio compared with a sex and age-matched control with no significant change in choline (Cho)/Cr ratio. The presence of the lactate peak reflecting disturbed mitochondrial functions in this disease has never been reported.     

In vivo detection of postictal perturbations of cerebral metabolism by use of proton MR spectroscopy: preliminary results in a canine model of prolonged generalized seizures.

BACKGROUND AND PURPOSE: Biochemical studies of seizures in patients and laboratory animals have monitored postictal perturbations in cerebral metabolism with either invasive techniques or with such noninvasive techniques as nuclear medicine, MR imaging, in vivo phosphorus MR spectroscopy (MRS), and in vivo proton MRS at field strengths of 1.5 T or above. We investigated postictal metabolic changes in a generalized seizure model with in vivo proton MRS at 0.5 T, in which the combination of glutamate and glutamine resonances (denoted glx) can be modeled as a singlet. METHODS: Five adult mongrel dogs underwent control and postictal experiments in which single-voxel proton MR spectra were obtained from the right frontal lobe cortex with a point-resolved spectroscopy technique approximately every 20 minutes for 3 hours. N-acetylaspartate (NAA), glx, and creatine (Cr) were quantified in absolute millimolar units with a cerebral water-referenced algorithm. Inter- and intrasubject differences in mean metabolite concentrations collected throughout the 3-hour period were compared using an unpaired, two-tailed Student's t test at a.05 level of significance. RESULTS: We found a significant increase (15.4%) in the postictal intersubject mean glx concentration, as well as a 23.7% postictal decrease in the intersubject mean Cr concentration. A trend toward a subtle decrease in postictal intersubject mean NAA concentration was not statistically significant. We also observed a substantial qualitative increase in the combination of postictal lactate and free fatty acid peaks. CONCLUSIONS: The glx, NAA, lactate, and free fatty acid results are in general agreement with previous studies of postictal perturbations in cerebral metabolism measured with invasive biochemical or noninvasive high-field-strength in vivo MRS detection assays. Given a high sensitivity for glx at 0.5 T relative to 1.5 T, further studies of postictal mesial temporal lobe structures are warranted in chronic animal preparations that model temporal lobe epilepsy.     

Proton MR spectroscopy in multiple sclerosis: value in establishing diagnosis, monitoring progression, and evaluating therapy

MR imaging is currently the technique of choice for evaluating brain lesions in patients with multiple sclerosis (MS). In addition to MR imaging, proton MR spectroscopy has shown potential in diagnosing MS and monitoring the progression of treatment. Spatially localized proton spectroscopy has been used to evaluate changes in choline, creatine, N-acetyl aspartate (NAA), lipids, and lactate in MS patients and in animal models of MS. The main spectroscopic findings are a decrease in the NAA:creatine ratio and an increase in the choline:creatine ratio in brain regions that include plaques defined by MR imaging. Proton MR spectroscopy along with MR imaging may be helpful in distinguishing those early lesions that might respond to therapy from late irreversible lesions. Preliminary evidence suggests that although the proton spectra acquired from patients with various brain diseases are similar (high choline, low NAA), there are differences in other resonances (lipids, lactate, glutamate, inositol) that could potentially help in diagnosing MS. Changes in proton metabolites potentially can be used to differentiate between the different stages of the MS lesion (hyperacute and edematous lesions, demyelinated lesions, and subacute to chronic plaques). It is hypothesized that successful treatment of demyelination and neuronal damage will be accompanied by changes in the proton spectrum (high choline:creatine ratio will lower to normal values and low NAA:creatine values will rise to normal values).     

Acute putaminal necrosis and white matter demyelination in a child with subnormal copper metabolism in Wilson disease: MR imaging and spectroscopic findings

Wilson disease (WD) that manifests solely with acute and severe neurological damage in the absence of hepatic disease and Kayser–Fleischer ring of the cornea is rare and difficult to diagnose at the acute setting. This report describes unusual diffusion and proton spectroscopic magnetic resonance (MR) imaging findings in a 12-year-old boy with WD who presented with hemichorea and subnormal copper metabolism. The MR imaging findings of lactate accumulation, decrease of N-acerylaspartate/creatinine (NAA/Cr) ratio and markedly increased apparent diffusion coefficient (ADC) value of the asymmetrical edematous putaminal lesions in the early stage were suggestive of acute necrosis with anaerobic metabolism of glucose leading to poor clinical outcome at follow-up.