线粒体脑肌病伴乳酸血症和卒中样发作综合征的临床、EEG、影像学及肌肉病理特点分析

目的探讨线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的临床症状、EEG、影像学及肌肉病理特点,以提高对其认识及诊断的正确率。方法回顾性分析6例基因确诊的MELAS综合征患者的临床资料,分析其临床表现、EEG、影像学、肌肉病理特点。结果6例患者中男性4例,女性2例,年龄最大者43岁,最小者4岁,平均起病年龄(15.00±13.10)岁。临床主要表现为痫性发作(100%)、卒中样发作(50.0%)、形体矮小(50.0%)、认知功能下降(66.7%)、共济失调(33.3%)、血乳酸增高(83.3%)等;6例EEG检查示4例顶、枕、颞区局灶性癫痫样放电,2例广泛性δ波,其中1例伴弥漫性1.5~2.0 Hz多棘慢、慢棘慢波发放。影像学检查:头颅MRI示4例顶、枕、颞区呈长T1、长T2改变,DWI高信号改变伴脑室扩大、脑沟裂增宽,2例未见明显异常;1例磁共振波谱分析(MRS)示左枕区乳酸峰升高,N-乙酰天门冬氨酸峰减低。肌活检:5例见蓬毛样红纤维,5例CCO染色见强烈反应性血管增生现象(SSVs);3例SDH染色见SSVs。结论MELAS综合征的临床多表现为癫痫、卒中、发育迟缓、智能减低等。EEG多表现为背景异常、局灶性放电,发作期可见多种发作图形,且局灶性放电部位多与影像学病灶一致。头颅MRI多显示病灶位于大脑半球后部,顶、枕、颞多见,不按脑血管分布。MRS可出现N-乙酰天门冬氨酸峰下降和乳酸峰升高。肌肉病理多见蓬毛样红纤维及SSVs。     

MELAS综合征的临床、影像学及病理研究

目的探讨线粒体脑肌病中MELAS综合征患者的临床表现、影像学、组织病理学特点及诊断方法。方法对5例MELAS综合征患者的临床、影像学及神经电生理、肌肉和脑组织病理学特点进行系统分析,3例行肌活检,其中1例患者行肌肉电镜检查;2例行脑活检。结果 MELAS综合征患者主要临床表现为运动不耐受、脑卒中发作、抽搐发作、偏盲、偏头痛发作、听力下降、视力下降。5例患者中血乳酸增高4例,肌电图提示肌源性损害4例,脑电图检查提示重度异常脑电图5例,头颅MRI检查主要为颞、枕、顶叶的不对称病灶;3例患者肌肉组织有破碎红纤维,1例行肌肉电镜检查发现异常线粒体,2例患者脑组织活检可见皮质组织成分层样改变。结论根据患者的临床及影像学特点,并结合肌肉及脑组织活检可对线粒体脑肌病MELAS综合征进行诊断。     

MELAS综合征八例

目的探讨MELAS综合征(线粒体脑肌病伴乳酸血症和卒中样发作)的临床特征,为早期诊断和治疗提供参考。方法对8例确诊的MELAS综合征患者的临床表现、肌活检病理及影像学资料进行回顾性分析。结果头痛、抽搐、运动耐受差、智能障碍、脑卒中样发作、血乳酸水平升高为本组患者的主要临床表现。8例患者脑内病灶均表现为T1WI低信号、T2WI高信号,病变主要累及额、颞、顶、枕叶皮层、皮层下及基底节,伴有不同程度的脑萎缩,病灶多发且与血管分布区不一致。8例患者行肌肉活检可见破碎红纤维(RRF)、异常线粒体增多。结论 MELAS综合征临床表现复杂多样,确诊依赖于临床特征分析和肌肉活检。磁共振成像在线粒体脑肌病的诊断、鉴别诊断方面具有一定的价值。     

颅骨嗜酸性细胞肉芽肿伴巨大缺损1例

患者男，25岁。主因右颞顶枕部颅骨进行性凹陷3年人院。查体：右颞顶枕部有一约10cm×10cm凹陷，边界尚清，无皮下硬结，无红肿及压痛，局部颅骨缺损下陷约0．8cm。外周血嗜酸性粒细胞8％，血沉50mm／h。头颅X线片：右侧颞顶枕骨部位显示大片低密度骨质破坏缺损区，直径约10cm×10cm，无硬化边缘，无骨膜反应，病灶边缘清楚锐利，呈穿凿状（图1）。     

15例MELAS综合征临床分析

目的 探讨线粒体脑肌病伴高乳酸血症和卒中样发作(Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes,MELAS)综合征的临床表现、核磁共振成像(Magnetic resonance imaging,MRI)特征、肌肉病理表现、基因突变特点、易误诊疾病,以提高临床医生对该病的认识。方法 回顾性分析本院2015年1月-2020年12月收治的15例MELAS综合征患者的临床资料。结果 15例MELAS综合征患者平均发病年龄30岁,临床表现中具有脑卒中样发作10例,癫痫11例,精神异常7例,认知功能下降6例,视力异常6例,听力异常2例,头痛8例,呕吐3例。MRI以颞顶枕叶病灶多见,不符合脑血管分布,且病灶呈“游走性”。15例患者均有静止性乳酸水平升高。15例肌肉活检可见典型破碎红纤维; 3例行基因检测,3例mtDNA A3243G突变; 曾误诊疾病:脑炎8人次,脑梗死4人次,继发性癫痫3人次,可逆性后部脑白质病变1人次。结论 临床上MELAS综合征极易漏诊、误诊,需结合临床表现、MRI特征、肌肉活检、基因检测协助诊断。     

癫痫后失明

作者报告三例儿童有癫痫后失明或偏盲,均在24小时内恢复视力。作者所见三例均为儿童,尚未在成人见到此现象。脑电图异常常局限于颞、顶、枕区。儿童未成熟的皮层以枕叶较不稳定,故小孩的脑电图枕部局限慢波较常见;而癫痫儿童中更常见枕部癫痫活动病灶,此一类的癫痫儿童约36%可有多种形式的视觉障碍,如斜视、眼球震颤、近视、阅读障碍或视幻觉。先天性失明儿童的枕区电活动常异常,即使这些儿童没有出现癫痫发作,枕区棘波、尖波的出现     

脑血管病所致的偏侧舞动症和舞蹈症（附8例临床分析）

目的 探讨脑血管病所致偏侧舞动症和舞蹈症（HB－HC）的临床、影像学的特点及其预后。方法 对8例脑血管病所致偏则HB－HC患者的临床及影像学资料进行分析。结果 本组7例为对侧上下肢或单肢舞蹈,肌力近正常,1例为同侧上肢舞动,对侧肢体肌力0级,呈浅昏迷。头颅MRI示底节区腔隙性梗死4例,丘脑和颞顶枕出血各1例,同侧上肢舞蹈患者为颞顶枕出血。7例对侧舞蹈均治愈,1例同侧舞动者死亡。结论 底节区腔隙性脑梗死常致对侧HB－HC,而同侧舞动者多为脑出血所致。局限病灶致对侧HB－HC患者预后佳,而广泛出血致同侧HB－HC患者顶后差。     

婴儿颅骨肌纤维瘤病一例临床观察及文献复习

目的 追踪1例婴儿颅骨肌纤维瘤病患者,探讨其自然病程、手术疗效及预后。方法8个月女孩因发现左颞及右枕部颅骨两处肿物入院,在我院行左颞肿物全切除,术后病理确诊为婴儿肌纤维瘤病。右枕部颅骨病灶未手术而给予随访观察。术后半年、1年、2年、4年分别行影像学检查,观察其自然病程。结果术后半年额骨近中线处出现一新病灶,右枕部病灶部分性消退,术后2年所有病灶均完全消退,目前患儿生长发育正常。结论发生于颅骨的婴儿肌纤维瘤病罕见,有自发消退倾向,应重新正确认识此病并给予正确的治疗。     

顶枕及颞顶枕离断手术治疗难治性癫癎

目的探讨顶枕及颞顶枕离断治疗难治性癫癎的疗效。方法回顾性分析16例难治性癫癎病人的临床资料,其中行颞顶枕离断9例,顶枕离断5例,颞叶切除及顶枕离断2例。结果随访16例,时间0.5~3.9年,平均1.6年。根据Engel分级,术后疗效:Ⅰ级13例,Ⅱ级1例,Ⅲ级2例。术后发生脑水肿2例,无严重神经功能损伤及死亡病例。结论顶枕及颞顶枕离断技术是致癎灶位于一侧顶枕及颞顶枕部位的安全、有效的治疗方法。     

MELAS型线粒体脑肌病的临床、影像学和肌肉病理分析

目的 探讨MELAS型线粒体脑肌病的临床表现、影像学特点和肌肉组织病理学改变,提高人们对本病的认识.方法 回顾性分析5例MELAS型线粒体脑肌病的临床表现、脑影像学改变(MRI和CT),以及骨骼肌活检的组织病理学特点.结果 MELAS型线粒体脑肌病的主要临床表现为局灶性或全身性癫NFDCC发作、听觉和视觉障碍、运动不能耐受、认知功能障碍、脑卒中样发作、血乳酸水平升高等.脑影像学检查可见病灶多位于颞、枕、顶叶皮层脑回处,脑MRI表现为长T1、长T2信号,部分患者头颅CT可见基底节钙化.骨骼肌活检5例患者肌肉组织中均可见破碎红边纤维(RRF),2例行电镜检查均可见异常线粒体聚集.结论 MELAS型线粒体脑肌病是一种以高乳酸血症和卒中样发作为特征的脑和肌肉能量代谢障碍综合征.患者临床表现复杂多样,容易造成误诊,其诊断需在临床表现和影像学特点的基础上,结合骨骼肌活检病理检查发现RRF或异常线粒体聚集,可获得临床确诊.     

Diffuse cortical lesions with hemorrhage in cerebral Whipple's disease

A 30-year-old Chinese male with a history of diarrhea and arthralgia presented for evaluation of progressive dementia, epilepsy, and increased intracranial pressure. Imaging of the brain showed progressive cortical and subcortical lesions with hemorrhage involving the bilateral temporal and occipital lobes, the posterior parietal lobes, and the left frontal lobe. "Foamy" periodic acid-Schiff (PAS)-positive macrophages were demonstrated on brain biopsy. The patient showed clinical improvement following treatment with chloromycetin and sulfadiazine for 2 months. This constitutes the first reported case of cerebral Whipple's disease with diffuse cortical lesions with hemorrhage reported in a Chinese individual. Further, this case points out the significance of early recognition and treatment of cerebral Whipple's disease, especially in those cases with unusual manifestations.     

可逆性后部白质脑病综合征的临床及影像学特点

目的探讨可逆性后部白质脑病综合征(RPLS)的临床及影像学特点。方法回顾性分析16例RPLS患者的临床资料。结果患者均为急性起病,其中继发于高血压脑病7例,妊娠子痫9例。患者均出现血压明显升高,其中出现头痛9例,意识障碍9例,癫痫发作13例,视力模糊6例。16例患者MRI均表现为双侧枕叶和/或额、颞、顶叶对称或不对称的T1低信号,T2高信号;其中累及顶叶13例(81.3%),枕叶12例(75.0%),额叶9例(56.3%),颞叶5例(31.3%),小脑4例(25.0%)。弥散加权成像(DWI)显示等/低信号14例,异常高信号2例。所有患者经对症治疗均痊愈。结论 RPLS以血压升高、头痛、视觉异常、意识障碍、癫痫发作为主要临床表现。MRI表现双侧枕叶和/或额、颞、顶叶对称或不对称的T1低信号,T2高信号,经治疗预后良好。     

脑电偶极子定位手术治疗32例顽固性癫痫临床分析

目的探讨脑电偶极子定位法(DLM)在癫痫外科中的临床意义及作用。方法所有患者术前均行脑电DLM定位,并按照术前定出的致痫源偶极子的位置设计手术入路。术中在皮层和深部电极脑电图监测下进行手术,并将DLM与术中脑电图监测结果进行比较。结果经DLM定位后结果显示,致痫灶在颞叶的有12例,额叶11例,枕叶2例,顶叶2例,两个脑叶4例,三个脑叶1 例。术前DLM位置与术中脑电图监测发现的致痫区位置相比,在额、顶、枕叶定位误筹均在10～15 mm 以内,在颞叶癫痫病人中 DLM与术中脑电图监测的发现均完全一致。术后6～24月随访结果显示,21 例患者癫痫控制疗效满意,4例疗效显著,3例效果良好,效果较差3例,术后因并发感染死亡1例。手术总有效率为87．5％(28／32),优良率为78．1％(25／32)。结论 DLM在顽固性癫痫患者术前致痫灶定位方面具有一定的指导意义,它与术中脑电图监测有很高的符合率,且在其指导下行手术患者的疗效满意,说明它是一种可靠的术前无创致痫灶定位方法。     

Hemispheric asymmetry (lateralization) in electroencephalographic activity while viewing familiar and unfamiliar patterns from Kimura figures

Kimura Recurring Figures were presented after the priming trial to the upper or lower, left or right, tachistoscopic fields while monopolar electroencephalographic activity was measured over the left and right parietal, occipital, and temporal lobes for 9 men and 9 women. The relative proportions of alpha rhythms during the 2 sec after each of 64 presentations were employed as the primary measure. The powerful asymmetry in electroencephalographic activity, manifested as a paucity of alpha activity over the right temporal lobe compared to the left temporal lobe, was not observed for the parietal or occipital regions. There was conspicuously more relative activity over the parietal and occipital lobes, but not over the temporal lobes, during presentations of the familiar figures compared to the unfamiliar figures. Several interactions--explaining more than 25% of the variance--between gender, left and right hemispheric EEG activity, and visual quadrants were consistent with lateralization of function and gender differences in functional brain organization.     

Combined EEG-fMRI and tractography to visualise propagation of epileptic activity

In a patient with refractory temporal lobe epilepsy, EEG-fMRI showed activation in association with left anterior temporal interictal discharges, in the left temporal, parietal and occipital lobes. Dynamic causal modelling suggested propagation of neural activity from the temporal focus to the area of occipital activation. Tractography showed connections from the site of temporal lobe activation to the site of occipital activation. This demonstrates the principle of combining EEG-fMRI and tractography to delineate the pathways of propagation of epileptic activity.     

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities

BackgroundFolate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid (CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal.Case reportWe present here a female patient with developmental delay, microcephaly, hypotonia, nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion in the bilateral parietal and occipital lobes, and calcifications of the bilateral putamen, globus pallidus, and caudate nucleus, and the bilateral parietal and occipital lobes. Laboratory tests revealed macrocytic anemia, increased homocysteine, low-normal CSF 5,10-methenyltetrahydrofolate, and low CSF folate, but normal serum vitamin B12 and folate levels. A whole exome sequencing analysis verified the diagnosis of 5,10-methenyltetrahydrofolate synthetase deficiency.ConclusionsWe have added novel knowledge which is nystagmus and hypotonia in the clinical findings, the involvement and restriction of bilateral putamen, globus pallidus, parietal and occipital lobes, and calcification of the bilateral putamen, globus pallidus, caudate nucleus, and parietal and occipital lobes in neuroimaging images and also low CSF folate in the metabolic investigation with the patient in 5,10-methenyltetrahydrofolate synthetase deficiency.     

Age-associated sex and asymmetry differentiation in hemispheric and lobar cortical ribbon complexity across adulthood: A UK Biobank imaging study

Cortical morphology changes with ageing and age-related neurodegenerative diseases. Previous studies suggest that the age effect is more pronounced in the frontal lobe. However, our knowledge of structural complexity changes in male and female brains is still limited. We measured cortical ribbon complexity through fractal dimension (FD) analysis at the hemisphere and lobe level in 7010 individuals from the UK Biobank imaging cohort to study age-related sex differences (3332 males, age ranged 45–79 years). FD decreases significantly with age and sexual dimorphism exists. With correction for brain size, females showed higher complexity in the left hemisphere and left and right parietal lobes whereas males showed higher complexity in the right temporal and left and right occipital lobes. A nonlinear age effect was observed in the left and right frontal, and right temporal lobes. Differential patterns of age effects were observed in both sexes with relatively more age-affected regions in males. Significantly higher rightward asymmetries at hemisphere, frontal, parietal, and occipital lobe level and higher leftward asymmetry in temporal lobe were observed. There was no age-by-sex-by asymmetry interaction in any region. When controlling for brain size, the leftward hemispheric, and temporal lobe asymmetry decreased with age. Males had significantly lower asymmetry between hemispheres and higher asymmetry in the parietal and occipital lobes than females. This work provides distinct patterns of age-related sex and asymmetry differences that can aid in the future development of sex-specific models of the normal brain to ascribe cognitive functional significance of these patterns in ageing.     

脑皮质发育不良继发顽固性癫痫的病理分型及手术治疗

目的 探讨局灶性脑发育不良(FCD)的临床特征、病理学、影像学的特点及手术疗效.方法 42例外科手术切除致痫灶并经病理证实为FCD的患者中,根据Palmini病理学分型进行分类,并对其临床特征、影像学特点及手术疗效进行回顾性分析.结果 42例患者中,按致痫灶部位分类颢叶24例、额叶14例、顶叶6例及枕叶3例,其中多脑叶5例.术前影像学检查阳性率62%.组织学分型FCDⅠA型9例,FCDⅠB型21例,FCDⅡA型5例,FCDⅡB型7例,其中以FCD Ⅰ B型最为常见,多位于颞叶且常伴有海马硬化.所有患者术后至少随访1年以上,癫痫术后治愈率FCD位于颞叶67%,颞叶以外43%(EngleⅠa).结论 FCD是难治性癫痫常见的病理学改变,其病理分型与临床特征和致痫灶部位存在相关性,为制定手术方案和判定手术效果提供了依据.     

后部皮质萎缩的临床及影像学特点

目的后部皮质萎缩(posterior cortical atrophy,PCA)是以视觉障碍为突出表现,并伴进行性认知功能受损的神经系统退行性疾病。PCA的临床表现以视觉加工、计算力下降、阅读书写能力受损为主,患者的视觉认知损害突出,而情景记忆、语言能力和自知力相对保留。本文结合我院收治PCA病例,总结PCA的临床及影像学特征,以期为该病的早期诊治提供参考。方法收集2013年至2018年于宣武医院神经内科确诊的后部皮质萎缩8例患者的临床表现、神经心理学检查、影像学资料等各项检查结果并进行回顾性分析。结果8例PCA患者起病均为隐袭起病,病情进展缓慢,其中有5例符合背侧型后部皮质萎缩特点,临床表现为巴林特综合征、视空间功能障碍以及格茨曼综合征特点,头MRI显示顶枕叶皮质萎缩为主;另3例符合腹侧型后部皮质萎缩特点,临床表现主要为面孔失认、视觉忽视,头MRI显示双侧颞枕叶皮质萎缩为主,而内侧颞叶和海马萎缩程度相对较轻。8例患者均行SPECT检查,显示大脑后部包括顶叶、颞枕叶皮质血流低灌注现象。3例患者行18F FDG PET检查显示大脑后部枕叶、顶叶、颞叶皮质葡萄糖代谢降低。结论对于存在视觉障碍和后部皮质相关认知功能损害的患者,临床医生要考虑到PCA的诊断,特别注意进行视觉相关的全面的神经心理学评估及PET检查,以辅助进行PCA的诊断。