儿童线粒体脑肌病的脑部MRI表现与诊断

目的探讨儿童线粒体脑肌病的脑部MRI表现及其诊断价值。方法搜集1996年1月至2002年12月经病理与实验室检查证实的16例儿童线粒体脑肌病及其脑部MRI表现，并进行回顾性分析。结果16例患儿脑MRI均有多发对称性片状略长T1和长T2异常信号，其中单纯脑深部灰质受累9例，大脑皮质和深部灰质同时受累6例，单纯白质受累l例。临床主要表现为进行性智力减退(12例)和肌力减退(10例)。骨骼肌活检病理检查可见破碎样红纤维及异常线粒体。结论进行性智力和肌力减退是儿童线粒体脑肌病最常见的临床表现；脑深部灰质多发对称性斑片状异常信号是儿童线粒体脑肌病脑部MRI的主要表现；脑MRI是诊断儿童线粒体脑肌病的重要手段，但儿童线粒体脑肌病的确诊有赖于肌肉活检和基因检查。     

MRI在小儿线粒体脑肌病中的诊断价值

目的　探讨MRI在小儿线粒体脑肌病中的诊断价值。方法　搜集自 1996 -0 1～ 2 0 0 0 -12经MRI检查、病理及实验室检查证实的小儿线粒体脑肌病 16例进行回顾性分析。结果　 16例患者脑内病灶均表现为多发对称性略长T1、长T2 信号 ,其中单纯脑深部灰质受累 9例 ,大脑皮质和深部灰质同时受累 4例 ,灰、白质同时受累 2例 ,单纯白质受累 1例。结论　多样化的临床和MRI表现是小儿线粒体脑肌病的特点 ;MRI对小儿线粒体脑肌病的诊断有较大帮助。     

线粒体脑肌病的MRI诊断价值

目的 探讨线粒体脑肌病的脑部MRI表现及其诊断价值。资料与方法 对13例线粒体脑肌病患者的临床、实验室及MRI表现进行回顾性分析。结果 13例头部MRI检查均显示异常，对病变的检出率为100％，主要MRI表现为3类：（1）大脑半球多发单侧或双侧病变（7例），4例呈对称性，病变呈片状等长T1、长T2信号，以一侧或两侧颞顶枕时皮层和皮层下白质最常受累。（2）大脑半球皮层和深部灰质核团同时出现片状等长T1、长T2信号2例。上述两类脑内病变有5例合并脑萎缩。（3）脑实质信号正常，但有脑萎缩4例，其中桥脑、延髓及小脑萎缩3例，大脑半球、脑干、小脑萎缩1例。结论 MRI对线粒体脑肌病的脑内病变显示敏感且准确，对其早期诊断、指导治疗、判断疗效和提示预后具有重要价值。     

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.     

海洛因所致海绵状白质脑病的MRI诊断

目的 阐述海洛因所致海绵状白质脑病的MRI表现及其诊断价值。材料与方法 搜集11例具有吸食海洛因史者的MRI资料,全部患者均进行MRI检查,检查序列包括T1WI、T2WI、FLAIR序列。结果 全部患者幕上半球脑白质、小脑半球、内囊后肢及膝部、胼胝体压部及膝部 见双侧,对称性异常改变,2例患者桥脑中央见椭圆形病变。MRI均表现为T1WI呈低信号,T2WI及FLAIR序列为不均匀或均匀高信号。以小脑半球白质受累最为严重,但其灰质核团未见受累,结论 海洛因所致海绵状白质脑病具有典型的MRI表现,结合病史,MRI诊断具有特异性。     

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。     

苯丙酮尿症的临床和MRI表现

目的 :分析苯丙酮尿症的临床和MRI表现。方法 :用 0 .5T超导磁共振机对 6例临床检查和生化测定已确诊的患儿头颅进行扫描。结果 :MRI在T2 WI上发现两侧侧脑室三角区背上方深部白质内大小不等的片状高信号区 4例 ,额顶深部白质内对称性高信号区 2例 ,其中 1例伴有侧脑室顶周围深部白质内多发小斑片状高信号区。 1例侧脑室三角区背上方深部白质内高信号与侧脑室边缘间有清晰的正常髓鞘化的低信号带分隔 ,其余各例未见此分隔带。结论 :PKU患者颅脑MRI在T2 WI上表现为脑深部白质内片状和弥漫性高信号病灶。MRI检查能揭示颅内病变及其范围     

苯丙酮尿症的临床和MRI表现

【摘要】目的:分析苯丙酮尿症的临床和MRI表现。方法 :用 0 .5T超导磁共振机对 6例临床检查和生化测定已确诊的患儿头颅进行扫描。结果 :MRI在T2 WI上发现两侧侧脑室三角区背上方深部白质内大小不等的片状高信号区 4例 ,额顶深部白质内对称性高信号区 2例 ,其中 1例伴有侧脑室顶周围深部白质内多发小斑片状高信号区。 1例侧脑室三角区背上方深部白质内高信号与侧脑室边缘间有清晰的正常髓鞘化的低信号带分隔 ,其余各例未见此分隔带。结论 :PKU患者颅脑MRI在T2 WI上表现为脑深部白质内片状和弥漫性高信号病灶。MRI检查能揭示颅内病变及其范围     

小腿骨筋膜间隔综合征MRI表现及其诊断价值

目的　总结小腿骨筋膜间隔综合征 (ostealcompartmentsyndrome ,OCS)的MRI表现特点及其诊断价值。　方法　回顾分析 15例经临床证实的小腿OCS患者的临床及MRI资料。结果　 15例中表现为多个筋膜间室受累 14例 ;单室受累 1例。急性期MRI表现为受累肌肉高度水肿 ,T1WI为低信号、T2 WI为高信号 ,肌间隔结构模糊 ;亚急性期信号混杂。与肌肉水肿相比 ,肌肉坏死区在T1WI呈更低信号 ,T2 WI呈更高信号 ,而肌肉内出血在T1WI、T2 WI上均呈高信号 ;慢性期主要表现为受累肌肉萎缩、肌间隔脂肪增多和深筋膜增厚。　结论　小腿OCS的MRI表现具有一定特征性。MRI可帮助临床诊断可疑病例 ,明确病变部位、范围和程度 ,并帮助临床制定治疗计划     

MOG抗体阳性视神经脊髓炎谱系疾病MRI特征

【摘要】目的：总结儿童髓鞘少突胶质细胞糖蛋白抗体（MOG-IgG）阳性视神经脊髓炎谱系疾病（NMOSD）MRI特征,以期提高诊断率。方法：回顾性分析临床确诊11例MOG-IgG阳性NMOSD患儿治疗前后中枢神经系统及眼眶MRI表现。结果：10例患儿病变累及脑实质,病变主要位于双侧大脑皮层下白质,可同时伴有丘脑、脑桥及小脑白质受累,其中7例表现为无定形片状长T1长T2信号影,FLAIR呈显著高信号,可伴有弥散受限;3例表现为多发肿胀性斑块,未见弥散受限及占位效应。4例患儿视神经受累,表现为视神经压脂信号增高;2例患儿脊髓受累,表现为长节段白质压脂信号增高。治疗后复查MRI示病灶明显数量减少、范围缩小。结论：儿童MOG-IgG阳性NMOSD脑实质受累较视神经及脊髓更为多见,典型MRI表现为分散、不定形且不对称皮层下白质病变,部分不典型者可表现为不伴有占位效应的多发肿胀型斑块。随访复查提示该病为良性单时相病程。     

18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images

PURPOSE: To study brain MRI findings in patients with 18q- syndrome and to correlate these findings with the results of the molecular breakpoint analysis. MATERIALS AND METHODS: Brain MR images of 17 patients with 18q- syndrome were evaluated. Segregation analysis was performed with 15 microsatellite markers to determine the deletion breakpoints and whether the deletion included the myelin basic protein (MBP) gene. RESULTS: One patient had an interstitial deletion of 18q which spared the MBP gene. He was the only one with normal brain MRI. All 16 patients with deletions including the MBP gene had abnormal white matter in MRI. The main finding was poor differentiation of gray and white matter on T2-weighted images due to increased white matter signal intensity. In addition, measured signal intensity of the white matter was significantly increased in patients compared with controls. CONCLUSIONS: Poor differentiation of gray and white matter on T2-weighted images is the most typical MRI finding of the 18q- syndrome. These results support the postulation that abnormal myelination in 18q- syndrome is due to haploinsufficiency at or near the MBP locus.     

Deep gray matter involvement in children with acute disseminated encephalomyelitis.

PURPOSETo review the frequency, distribution, and extent of deep gray matter disease in children with acute disseminated encephalomyelitis.METHODSThe MR examinations of 10 patients, who were discharged with the clinical diagnosis of acute disseminated encephalomyelitis between 1986 and 1992, were retrospectively reviewed. Locations of abnormal signal in the cerebral and cerebellar cortices, white matter, and deep gray matter nuclei were recorded. Precontrast and postcontrast images were compared, when available, to assess degree of enhancement (if any).RESULTSSix patients had foci of prolonged T2 relaxation in the deep gray matter, ranging in size from less than 1 cm to 4 cm. The caudate heads were involved in 4 patients, caudate body in 3, globus pallidus in 3, putamina in 3, and thalami in 4. In 1 patient, the thalami were involved nearly symmetrically, with mild mass effect. Asymmetric subcortical white matter involvement was present as well. Prolonged T2 relaxation was present within the cerebral cortex in 4 patients and was associated with subcortical white matter abnormality in 3 and more central white matter disease in 1. Nine of 10 patients demonstrated foci of T2 prolongation in white matter, most commonly involving the subcortical region, corona radiata, and centrum semiovale. Three patients also had periventricular foci. Of the 3 patients receiving gadolinium, one showed no enhancement. Two of the patients showed enhancement of some but not all lesions. One patient, who had normal brain MR findings and symptoms of myelopathy, underwent spine MR which demonstrated focal linear areas of T2 prolongation in the spinal cord at levels C-1 to C-2 and T-6.CONCLUSIONInvolvement of deep gray matter was common in our small series. The finding of T2 prolongation in these structures does not preclude the diagnosis of acute disseminated encephalomyelitis in the proper clinical setting. Because thalamic involvement is reported to be rare in multiple sclerosis, it may prove useful in distinguishing between acute disseminated encephalomyelitis and the initial presentation of multiple sclerosis.     

神经元移行异常的MRI诊断

目的分析各种神经元移行异常的MRI特征。方法分析50例神经元移行异常的MRI表现,总结MRI影像特征。结果灰质异位23例,脑裂畸形12例,多小脑回9例,巨脑回5例,无脑回1例。脑灰质异位MR表现为皮质下,白质区,侧脑室室管膜下结节状、团块状或带状病灶,在所有序列上与正常脑灰质信号相同。脑裂畸形表现为大脑半球的横行裂隙,边缘衬有灰质。多小脑回畸形表现为脑回增多、细小而浅。巨脑回畸形表现为脑回增宽,灰质增厚,白质变薄。无脑回畸形表现为大脑半球呈肾形,正常脑沟和脑回消失,皮质增厚,白质变薄。结论MRI是诊断神经元移行异常的最佳影像方法。     

MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy

OBJECTIVE: The purpose of this study was to retrospectively review MR images of the brain in five patients diagnosed with mitochondrial neurogastrointestinal encephalomyopathy. CONCLUSION: Our research supports previously reported findings of confluent abnormal cerebral white matter in patients with mitochondrial neurogastrointestinal encephalomyopathy. In contrast to prior studies, our cohort of five patients showed that involvement of the corpus callosum as well as the capsular white matter, basal ganglia, thalami, midbrain, pons, and cerebellar white matter is not rare and does not preclude the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.     

Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report

Summary: Conventional MR imaging, MR spectroscopy, diffusion-weighted imaging, and diffusion tensor imaging were performed in a 5-month-old male patient with mitochondrial encephalomyopathy. On conventional T2-weighted MR images, symmetric, confluent high signal intensity was found in the temporoparietal white matter. A large lactate peak and decreased N-acetylaspartate were found in this region on proton MR spectroscopic images. Diffusion-weighted imaging showed increased apparent diffusion coefficient, representing vasogenic edema. Diffusion tensor imaging revealed decreased anisotropy, consistent with injury to the oligodendro-axonal unit. A muscle biopsy specimen revealed an isolated complex III enzyme respiratory chain deficiency. Diffusion-weighted and diffusion tensor imaging are valuable techniques for the characterization of hyperintense lesions on T2-weighted MR images in cases of mitochondrial encephalomyopathy.     

Membranous lipodystrophy: MR imaging appearance of the brain

Five patients with membranous lipodystrophy (lipomembranous polycystic osteodysplasia with progressive dementia) underwent magnetic resonance (MR) imaging of the brain. T2-weighted MR images showed atrophied cerebral white matter with dilated ventricles; increased signal intensity of the white matter; and decreased signal intensity of the thalamus, putamen, caudate nucleus, and cerebral cortex. Although each single finding is not specific, the combination of the above MR findings when coupled with skeletal lesions strongly suggests this rare disease.