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。     

儿童线粒体脑肌病的MRI表现

目的回顾性研究20例线粒体脑肌病患儿(年龄10个月到14岁)的MRI表现.方法20例由肌肉活检及实验室检查证实为线粒体脑肌病的患儿,脑内均有MRI阳性表现,研究其MRI表现的类型.结果20例患儿脑内病灶均表现为T1WI低、T2WI高信号,8例有不同程度的脑萎缩.18例患儿主要为灰质受累,其中10例为只有深部灰质病变;4例为深部灰质和大脑皮质同时受累.4例为深部灰质病变合并脑梗塞而同时累及灰质和白质.2例主要为白质受累,表现侧脑室后角旁白质异常信号.结论儿童线粒体脑肌病的MRI表现是多样性的.当儿童脑MRI表现为灰质(尤其是深部灰质)异常信号、灰质萎缩、不典型梗塞、不典型白质病变且合并临床难以解释的神经、肌肉等多系统的症状时,应考虑到线粒体肌病的可能.     

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.     

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。     

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。     

线粒体脑肌病综合影像表现

目的:探讨多种影像技术对线粒体脑肌病(ME)的诊断价值.方法:回顾性分析7例线粒体脑肌病患者的影像资料,其中7例行常规MRI扫描,3例行MRA扫描,4例行MRS扫描,1例行DSA检查,6例行CT平扫.结果:6例病变主要累及两侧大脑皮层和皮层下,1例主要表现为白质内改变,均表现为长T1、长T2改变;MRA示2例未见明显改变,1例示病变处血管分支明显增粗;4例MRS在病变处检出乳酸双峰,1例在脑脊液中检出乳酸双峰.1例行DSA检查示病灶内血管分支增粗,血运加快.6例行CT检查病灶均呈低密度改变.结论:影像检查尤其是MRI检查对ME的诊断提供了丰富的信息,当年青患者出现非典型性脑梗死表现,MRS检出乳酸双峰时要考虑到线粒体脑肌病的可能.     

脑脂肪栓塞的MRI诊断价值

目的：研究MIU对脑脂肪栓塞的影像学诊断及其临床价值。方法：回顾性分析了25例经临床诊断为脂肪栓塞综合征(FES)的脑部MRI资料。MRI检查采用0．3T、0．5T低场强设备，行常规SE T1WI、FSE T2WI和FI FLAIR，16例病人在发病后1～3月内行MRI复查，CT检查22例。结果：脑脂肪栓塞(CFE)的MRI表现为散在多发、对称分布的点、片状等或长T1长T2信号灶，边缘多较模糊，主要位于基底节区、脑干深部、深部白质及分水岭区白质。MRI复查示随脑内病灶的吸收，病人症状得到不同程度的改善，因此，MRI对判断预后及指导治疗具有重要意义。结论：MRI可为CFE的诊断提供直接的证据，应作为诊断CFE的常规手段。     

儿童髓鞘少突胶质细胞糖蛋白抗体相关疾病首次发作的MRI分析

目的 探讨儿童髓鞘少突胶质细胞糖蛋白抗体相关疾病（MOGAD）首次发作的MRI特点。资料与方法 回顾性分析2018年5月—2021年2月湖南省儿童医院临床诊断为MOGAD的40例患儿首次发作时头颅、脊髓及视神经MRI表现,患儿首次发作年龄1.2～13.8岁。结果 40例患儿中,37例（92.5%）头颅MRI可见异常病灶,30例为多脑叶受累,24例皮层、皮层下白质及深部白质均受累,额叶（78.4%,29/37）、顶叶（75.7%,28/37）为最常累及的脑叶,扩散加权成像及磁敏感成像无异常,增强扫描无强化或轻度强化。14例（38.9%）脊髓MRI异常,表现为脊髓长节段、不连续稍长T1稍长T2信号影,主要位于中央灰质部位,增强扫描无强化或轻度强化;其中13例胸髓受累,8例颈髓受累。31.0%(9/29)视神经MRI异常,主要表现为单侧（4例）或双侧（4例）视神经稍增粗,T2WI信号增高,1例累及视交叉,增强扫描以视神经鞘及周围脂肪组织强化为特征。结论 MOGAD患儿头颅、脊髓及视神经MRI表现多样,在头颅多表现为皮层、皮层下白质及深部白质的多发稍长T1稍长T2信号影,在脊髓表现为颈胸髓内长...     

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     

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.     

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.     

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin α 2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin. Received: 22 December 1997 Accepted: 22 April 1998     

MRI findings in neuro-beh?et's disease.

AIM: To evaluate the pattern and site of involvement in neuro-Beh?et's disease (NBD). MATERIALS AND METHODS: Twenty-one patients with NBD were evaluated. Using 1.5T magnetic resonance imaging (MRI), T1-weighted axial and sagittal images, gadolinium enhanced axial and coronal images and T2-weighted axial images were obtained. RESULTS: The brainstem, basal ganglia, cerebral white matter, internal capsule, thalamus and spinal cord were involved in eighteen, nine, nine, seven, six and two patients, respectively. In nine patients with cerebral white matter involvement, four had subcortical involvement and three had periventricular involvement, in addition to two patients with focal deep white matter lesions. Among the brainstem lesions, pons involvement was seen in fourteen patients, all had ventrally located lesions, and nine had tegmental involvement. Midbrain involvement was seen in fourteen patients; the cerebral peduncle was involved in 11 of these. Five patients had brainstem atrophy: two cases were demonstrated at initial MRI, the other three cases were seen on follow-up MRI. Pyramidal signs, the most common neurological signs, were demonstrated in fourteen patients. Follow-up MRI was obtained 10 days to 20 months after the initial MRI in eight cases; all showed changes in size, shape and site of involvement. After gadolinium enhancement, thirteen patients demonstrated mottled non-confluent enhancement in the brainstem (eight patients), posterior limb of the internal capsule (three patients), pachymeninges (two patients) and spinal cord (two patients). CONCLUSION: NBD manifests a reversible course, but chronic NBD may result in brainstem atrophy. Characteristic involvement along the corticospinal tract is well correlated with neurological signs.     

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.     

MRI in methotrexate-related leukoencephalopathy: Disseminated necrotising leukoencephalopathy in comparison with mild leukoencephalopathy

We report two fatal cases of methotrexate (MTX)-induced disseminated necrotising leukoencephalopathy (DNL) in which MRI was repeated from the onset. Initial T2-weighted images showed multiple areas of high signal, mainly in deep cerebral white matter, which on follow-up, spread and coalesced to involve the entire white matter. Small irregular low-signal foci on T2-weighted images were seen within the high-signal lesions. Multiple areas of contrast enhancement corresponded to these low-signal foci. The condition of both patients deteriorated and they died. We compared their MRI findings with those of seven patients with mild MTX-related leukoencephalopathy, six of whom were asymptomatic; one had transient neurological symptoms. They showed no contrast enhancement, but rather mild-to-moderate diffuse high signal in deep white matter, which later disappeared. These findings suggest that multiple low-signal foci on T2-weighted images with contrast enhancement may be characteristic of DNL, and that contrast-enhanced imaging is useful to differentiate this condition from mild leukoencephalopathy.