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。     

艾滋病痴呆综合征的MRI表现

目的 分析艾滋病痴呆综合征(ADC)的MRI特点,提高对本病的认识.方法 回顾性分析35例ADC患者的临床及MRI资料. 结果 35例ADC患者中有31例脑组织总量减少,皮层及基底神经节弥漫性萎缩,脑沟增宽,脑室扩大;25例侧脑室周围白质信号异常;3例呈单纯脑萎缩.结论 ADC具有特征性的MRI表现,大部分患者出现脑萎缩征象,脑沟增宽,脑室扩大;侧脑室周围白质及半卵圆中心信号异常.结合临床病史,MRI检查对本病的早期诊断有重要意义.     

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。     

Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients

Summary We report the findings on cranial computed tomography (CT) and magnetic resonance imaging (MRI) and their correlation with the clinical manifestations, disease severity and biochemical abnormalities in eight patients with cerebrotendinous xanthomatosis. CT revealed cerebral atrophy in seven cases, cerebellar atrophy in four and focal low density lesions in the cerebral white matter in two. T2-weighted MRI showed high signal lesions in the cerebral white matter, focal in four cases and diffuse in one, and in the globus pallidus in three patients, two of whom also had lesions in the cerebellar white matter. While severely affected patients showed variable CT and MRI abnormalities, our cases did not show the dramatic findings expected from the neurological manifestations. Diffuse lesions in the cerebral and cerebellar white matter have been emphasized in previous reports, but in our study the focal lesions in the cerebral white matter were also present; the globus pallidus was frequently involved.     

Familial arteriopathic leukoencephalopathy: imaging and neuropathologic findings.

We present the clinical, imaging, and neuropathologic data for a family with an autosomal dominant, nonhypertensive, progressive cerebral arteriopathy and leukoencephalopathy. Clinical presentation was characterized by progressive dementia, gait abnormalities, and, in some, Parkinson-like symptoms. MR abnormalities, consisting of white matter T2 hyperintensities and cystic-appearing T1 hypointensities, were present in seven family members. The basal ganglia also showed cystic abnormalities. Neuropathologic examination in two cases revealed numerous lacunar infarctlike lesions, extensive demyelination, and widespread hyalinization of arteriolar walls with karyolysis and granular deposits within the media. These findings appear to constitute further evidence of a genetically determined arteriopathic leukoencephalopathy.     

Magnetic resonance imaging in Pelizaeus-Merzbacher disease

Summary Pelizaeus-Merzbacher's disease is a progressive encephalopathy with demyelination of the cerebral white matter. The diagnosis can not be made on clinical or biological grounds: pathological investigation is necessary to confirm tigroid demyelination. CT scanning failed to visualize this type of anomaly but detection is now possible with the advent of magnetic resonance imaging (MRI). The authors studied the case of a boy who, at the age of 8 presented with symptoms characteristic of the disease: rotatory nystagmus, progressive encephalopathy, and inherited X-linked recessive traits. Magnetic resonance imaging revealed a high signal in the supra-tentorial white matter and the usual contrast was inverted. The authors believe that MRI can make an important contribution to the diagnosis of the disease.     

Rapid spongiform degeneration of the cerebrum and cerebellum in Creutzfeldt-Jakob encephalitis: serial MR findings.

We report the cerebral MR imaging findings in a patient with pathologically proved Creutzfeldt-Jakob disease in whom predominant gray and white matter degeneration was seen within 1 year of symptom onset. The initial MR signal abnormalities in the basal ganglia were subtle. A follow-up MR examination revealed diffuse cerebral and cerebellar atrophy and demyelination.     

局限性脑皮层发育不良的影像与病理对比分析

目的 探讨局限性脑皮层发育不良(FCD)的影像改变,并与病理改变对比,以提高对FCD的认识.方法 回顾性分析28例经临床病理证实的FCD患者的临床及影像资料,所有患者均行MR检查,其中14例患者行PET检查,将影像改变与病理变化进行对比分析.结果 28例FCD中MRI显示病灶24例(85.7%),4例未显示明显异常,局限性脑皮层增厚及灰、白质界限不清是FCD的主要MR改变,同时脑皮层及皮层下白质可出现多种异常信号,其中皮层下白质内类三角形稍长T2信号指向侧脑室具有一定的特征性.14例行PET检查,其中9例(64.3%)显示病灶局部葡萄糖代谢活性减低.病理改变主要包括脑皮层细胞排列结构紊乱,皮层及皮层下白质内异形神经元细胞及气泡状细胞,部分患者可见皮层下白质髓鞘形成障碍及海绵样坏死灶.结论 高质量的MR图像可以显示大部分FCD病灶,包括脑皮层及皮层下白质的异常信号,是目前术前评价FCD的最佳影像检查.     

MRI对先天性肌营养不良的诊断价值

目的研究先天性肌营养不良(congenital muscular dystrophies,CMD)的MRI特点。资料与方法对10例临床诊断为CMD的患儿行常规头部MRI,分析其脑白质及脑发育异常情况。脑干发育是否正常经与对照组比较后进行判断。结果10例中,1例MRI表现基本正常,其余9例均有不同程度的脑白质异常,侧脑室旁白质异常8例,皮层下白质异常9例。1例有新生儿缺氧缺血脑病(HIE)后遗改变。1例有侧脑室扩大。1例小脑发育不良。2例小脑可见多发囊性小病灶。6例脑干发育不良。结论CMD的颅脑MRI具有特征性,MRI能为CMD的诊断提供帮助。     

儿童急性坏死性脑病的影像学分析

目的分析儿童急性坏死性脑病(ANEC)的颅脑影像学特征,探讨其对临床的指导价值。方法回顾性分析2013年1月至2018年10月武汉儿童医院22例确诊为ANEC患儿的临床及影像资料。患儿病初均有高热,前驱感染后迅速出现神经功能恶化。首次影像检查中,所有患儿均行头颅MRI检查,其中6例MRI检查前行头颅CT检查。MRI随访中,4例失访,6例仅行1次短期随访(<14 d),12例接受1~2次短期及1~4次长期随访(>14 d)。影像学检查重点观察丘脑、脑干、脑白质和基底节区等部位,以及整个随访中是否有出血及软化灶形成。结果所有ANEC患儿的影像学表现中均累及双侧丘脑,其他对称病变部位包括大脑白质(14例)、基底节区(15例)、脑干(16例)、小脑(9例)、胼胝体(2例)和海马(1例),不对称病灶患儿3例,分别见于大脑白质(2例)及小脑(1例)。最典型的头颅MRI表现为急性期在表观扩散系数(ADC)图上,丘脑呈"三色模式"(中央高信号和周围低信号环,以及丘脑周围高信号)或"双色模式"(丘脑中央低信号及边缘高信号)。影像学随访中,MRI上出现出血、脑软化可能提示临床预后差。结论ANEC为快速进展型脑病,具有典型影像学特点,出血、脑软化可能提示不良预后。     

GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI

Two children with GM-2 gangliosidosis type 0 (Sandhoff's disease) followed up by MRI at 1.5 Tesla for 1.8 years are reported. One was presymptomatic at the first MRI examination. As her neurological status deteriorated, MRI showed low signal in bilaterally, on T2-weighted images the white matter with involvement of the optic radiations. In the second, MRI correlated well with the clinical progression of the disease, showing in the different stages involvement of thalamus and basal ganglia. There was no contrast enhancement and the grey matter remained normal.     

Multiple Sklerose

Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI.     

脑白质稀疏症的CT与临床研究

目的：探讨脑白质稀疏症的发病机理及CT表现与临床症状的关系。方法：分析124例脑白质稀疏症的CT及临床表现。结果：脑白质稀疏症的CT可表现为双侧侧脑室枕角周围对称性低密度和/或双侧侧脑室额角周围低密度、双侧侧脑室周围斑片状对称性低密度或脑白质弥漫性低密度。本病可合并基底节、丘脑腔隙性梗塞及出血。结论：脑白质稀疏症多发于双侧侧脑室枕角周围，也可以发生在双侧侧脑室额角周围，在严重病例可累及双侧侧脑室周围部分或全部脑白质区。本病病理表现为双侧侧脑室周围脑白质脱髓鞘，脑白质的供血特点、年龄的增长、高血压为脱髓鞘的主要原因。     

Balo's concentric sclerosis: value of magnetic resonance imaging in diagnosis

We report two cases of Balo's concentric sclerosis that demonstrate the typical magnetic resonance imaging (MRI) findings of concentric rings of demyelination involving the superficial and deep white matter and sparing the cortex. In both cases biopsy was not performed as MRI findings and multi-mode evoked potential studies were consistent with demyelinating illness. The theories regarding the pathogenesis of this peculiar appearance are briefly reviewed.     

MRI in chronic toluene abuse: low signal in the cerebral cortex on T2-weighted images

Abstract MRI may be helpful in showing brain toxicity associated with chronic toluene inhalation. We report clinical and MRI findings over 3 years in a man with gradual neurologic decline secondary to toluene abuse. Cerebral atrophy most prominently involved the corpus callosum and cerebellar vermis. On T2-weighted images, loss of gray-white matter contrast, diffuse supratentorial white matter high-signal lesions, and low signal in the basal ganglia and midbrain were seen. In addition, MRI showed abnormal labor cortical low signal on T2-weighted images, most prominent in the primary motor and visual cortex. This cortical T2 shortening, not previously described in this condition, may reflect iron deposition. Received: 14 October 1997 Accepted: 18 December 1997     

MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease

MR imaging was performed in five members of a family afflicted with Pelizaeus-Merzbacher disease. The individuals imaged included a male proband, his mother, and three maternal uncles. Clinically affected members showed generalized white matter signal aberration consistent with dys- and demyelination, basal ganglia, and thalamic signal aberration suggestive of pathologic iron storage and diffuse brain atrophy. These findings are similar to those seen in other leukodystrophies. The proband's mother was normal by neurologic examination but showed a suspicious but not definitely abnormal similar pattern of basal ganglionic and white matter signal aberration. In our limited patient sample, MR appears to be able to: (1) demonstrate a pattern of imaging abnormalities characteristic of Pelizaeus-Merzbacher disease (we do not know if this pattern is specific); (2) potentially detect the obligate carrier state; and (3) detect the facultative carrier state.     

Cranial MRI in Behçet’s disease: 134 examinations of 98 patients

Two observers, blinded to the patients neurological status, reviewed 134 MRI studies of 98 consecutive patients with Behçets disease (BD), to define imaging patterns and to look for any relationship between the MRI findings and the timing of the examination in patients with differing courses of disease. There were 43 patients with overt parenchymal central nervous system (CNS) involvement, 22 with attacks and remissions, 15 with secondary progressive and six with primary progressive disease; 14 had raised intracranial pressure (RICP). Of the remaining 41 patients without specific neurological complaints, 16 had abnormalities on examination (silent CNS involvement) and 25 did not. During an acute CNS attack, the most common finding was a large lesion in the brain-stem or basal ganglia, extending to the diencephalon. On MRI performed after remission of an acute attack or during secondary progression, the same sites were affected, but the lesions were smaller or scattered, with less clearly defined margins. In primary progressive disease or silent CNS involvement, the cerebral white matter was most commonly involved, but almost half the MRI studies were normal. The brain parenchyma was abnormal in only one of the patients with RICP. MRI was normal in all but three patients without clinical CNS involvement, in whom it showed a few millimetric white-matter lesions. Brain-stem atrophy was seen in 15 patients examined >1 year after an initial parenchymal CNS episode, with secondary progressive cases predominating.Part of this work was presented at the Eighth International Conference on Behçets Disease, Reggio Emilia, October 1998 and at the Eighth Meeting of the European Neurological Society, Nice, June 1998     

一氧化碳中毒迟发性脑病的MRI表现

目的:研究一氧化碳(CO)中毒迟发性脑病的MRI特征.方法:回顾性分析32例CO中毒迟发性脑病患者的MRI和临床资料.结果:CO中毒迟发性脑病MRI表现可分为三型:①神经核团受累型;②脑白质受累型;③皮层受累型.MRI特征:苍白球为对称性的卵圆形长T1、长T2信号,皮层下白质为对称性的弥漫、模糊云雾状长T1、长T2信号,侧脑室周围、半卵圆中心白质亦为对称云絮状长T1、长T2信号,胼胝体常受累.MRI显示苍白球合并脑白质受累者及皮层受累者,临床表现较重.结论:CO中毒迟发性脑病MRI表现有一定特征性,且能反应其病理过程,并对CO中毒迟发性脑病的诊断和评价临床表现、预后均有意义.     

儿童结节性硬化症14例的磁共振表现

目的 探讨结节性硬化症(TSC)的磁共振影像表现。方法 收集2002年3月至2005年4月间临床证实的结节性硬化症14例,全部病例均进行MR检查,其中3例进行增强检查。不合作儿童检查前采用6.5%水合氯醛保留灌肠镇静睡眠。结果 全部病例均显示大小不等(1~5mm)的室管膜下结节。皮层或皮层下结节10例,表现为脑回核心样病灶和H型病灶。白质异常信号6例,分别呈线状、楔形、不规则形。室管膜下巨细胞星形细胞瘤2例,肾血管平滑肌脂肪瘤1例。结论 MRI对TSC诊断的敏感性高,是首选的影像学检查方法。室管膜下结节是TSC最重要的MR影像学表现之一,以T₁加权成像(T₁WI)及梯度回波序列显示效果最佳。T₂加权成像(T₂WI)及液体衰减反转恢复序列(FLAIR)对TSC大脑皮层或皮层下区结节、脑白质区病灶的显示优于T₁WI。     

Marchiafava-Bignami disease with widespread extracallosal lesions and favourable course

We report a 61-year-old alcoholic man who presented with subacute physical deterioration and severe dysarthria. MRI, suggestive of corpus callosum demyelination with associated white matter involvement in both cerebral hemispheres, indicated the diagnosis of Marchiafava-Bignami disease. During his stay in hospital the patient showed remarkable improvement, and was discharged 22 days after admission. On MRI 2 months later, the extracallosal lesions had disappeared. This case raises questions about some previous ideas on this disease, such as the prognosis of its acute forms and the significance of the extracallosal lesions seen on neuroimaging. Received: 9 March 1998 Accepted: 27 March 1998