3.0T磁共振血管造影普查对颅内动脉开窗畸形的诊断价值

目的通过大样本病例研究颅内动脉开窗畸形磁共振血管造影(MRA)的检出率、好发部位及其临床意义。方法2009年10月至2011年3月行MRA 2 036例患者,确诊动脉开窗畸形25例(开窗畸形组),其中男性14例,女性11例;年龄30~81岁,平均年龄60.5岁。全部行头颅三维时间飞跃MRA(3D-TOF MRA)扫描,将原始图像经工作站处理,得到最大密度投影(MIP)和容积重组(VR)图像,分析颅内动脉开窗畸形的影像学特点,与伴发动脉瘤之间的相关性。结果 2 036例患者中,发现动脉开窗畸形共计25例(检出率1.23%,25/2 036),其中位于基底动脉11例;位于椎动脉颅内段4例;位于前交通动脉区6例;位于大脑中动脉3例;位于大脑后动脉1例。25例开窗畸形中有6例合并动脉瘤,4例位于颈内动脉颅内段,2例位于大脑前动脉。结论 3D-TOF MRA检查能准确诊断、显示颅内动脉开窗畸形。     

独眼合并无脑畸形1例

在国外文献中 ,独眼 (Cyclopia)合并无脑 (Anencephalia)畸形少有记载 ,仅MacGregor在《婴儿和小儿病理学》一书中描述过[1] 。国内虽已见到过两例独眼畸形的报道[2～ 3 ] ,但独眼合并无脑畸形尚未发现。作者曾观察到此种罕见畸形 1例 ,现报道如下。本例为足月女婴 ,体重 2 .2k     

早期康复对儿童重症脑功能障碍的疗效研究

大量临床实践表明,早期康复干预能更有效的提高脑功能障碍患者的促醒率,促进神经功能及肢体运动功能恢复,提高患者生活质量。儿童大脑的可塑性大,代偿能力高,恢复能力强,与成人相比有更好的预后。儿童患脑炎、无菌性脑膜炎、急性中毒性脑病、神经系统慢病毒感染、急性脑损伤(溺水、窒息、中毒、交通事故、脑部肿瘤、脑血管畸形、运动损伤)等疾病所致的重症脑功能障碍致残率高,且发病率有逐年递     

无脑畸胎伴发器官的异常

<正> 本文作者共观察40例(男9,女31)无脑畸胎,多伴发一些器官的畸形或变异,现经整理,摘要报告如下: 1.伴发脊柱裂37例,出现率占92.5％。其中男性7例;女性30例。显性脊柱裂36例;隐性脊柱裂1例。脊柱裂与无脑畸胎合并者据施际武等人的报告,多与颅裂连通。本文在37例无脑畸胎合并脊柱裂中,有35例脊柱裂与颅裂连通,只有2例脊柱裂单独存在。     

性反转综合征细胞和分子遗传学研究

目的探讨性反转综合征临床及遗传学特点。方法对30例患者进行外周血染色体分析,采用PCR和琼脂糖凝胶电泳检测SRY、Y染色体15个AZF基因。结果 29例患者中,21例为46,XY、1例为45,X/46,X,t(Y:Y)女性性反转,7例为46,XX男性性反转,仅1例男性儿童SRY基因阴性,12例AZF检测的女性性反转者中仅1例有基因缺失,1例成人男性性反转者进行AZF检测,15个位点均缺失。儿童临床表现为生殖道畸形、性腺发育不良和矮小,成人为原发闭经或不孕。结论本地区儿童与成人性反转临床表现差异较大,SRY基因与46,XX男性性反转表型密切相关,是导致女性性反转发病的重要基因。     

新生儿先天性肾盂积水——附8例尸解报告

本文报告8例男性新生儿先天性肾盂积水。其中1例伴尿道缺如、1例伴后尿道狭窄、4例伴输尿管畸形。8例均伴泌尿系统外畸形,其中7例伴肛门闭锁。笔者对新生儿肾盂积水的成因及泌尿道畸形与消化道畸形的相互关系作了讨论。     

成人急性缺氧性脑病13例临床分析

目的探讨成人急性缺氧性脑病的临床特点、治疗及预后。方法回顾性分析13例成人急性缺氧性脑病患者的临床资料。结果主要临床表现：意识障碍，锥体外系症状，记忆力及智能减退，反应迟钝，锥体束征，精神症状，癫痫，部分病人有迟发性脑病。辅助检查：脑电图可见轻-重度异常。头颅cT可见脑水肿、腔隙性脑梗死、豆状核低密度灶、脑萎缩等。MRI主要见双侧基底节区对称性长T1长他信号影。本组病人多数经去除病因、应用脑细胞营养剂、改善脑循环、高压氧、对症及康复治疗，临床症状基本消失或好转。结论急性缺氧性脑病病因不同，临床表现各异，治疗关键在于充分认识本病，积极预防各种产生脑缺氧的原因及晚发损害的发生。一旦发生应及时合理的治疗。头颅MRI对缺氧性脑病有重要诊断价值。     

胎儿神经管缺陷畸形的产前超声诊断分析

目的探讨产前超声诊断胎儿神经管缺陷畸形的价值。方法回顾性分析经产前超声诊断的76例神经管缺陷畸形胎儿。结果无脑畸形26例,露脑畸形12例,脑膨出及脑膜膨出11例,单纯脊柱裂11例,无脑畸形合并脊柱裂5例,露脑畸形合并脊柱裂3例,脑膨出及脑膜膨出合并脑积水5例,脑膨出及脑脊膜膨出合并脊柱裂3例。结论超声作为一种安全简便的检查方法,只要熟悉掌握神经系统不同阶段的超声表现,规范化检查,注意追踪观察,就会大大提高神经管缺陷畸形的诊断正确率及早期发现率。     

胎儿神经系统畸形超声产前诊断分析

目的探讨胎儿神经系统畸形的超声诊断价值及临床意义。方法回顾性分析86例超声产前诊断的胎儿神经系统畸形病例的声像图特征与临床意义。结果超声产前诊断胎儿神经系统畸形86例,其中脑积水23例,无脑或露脑畸形21例,脊柱裂15例,脑或脑膜膨出8例,前脑无裂畸形7例,Dandy-Wallker畸形6例,胼胝体发育不全3例,蛛网膜囊肿2例,Galen静脉瘤1例,合并多发畸形44例,86例均经引产或出生后证实,诊断符合率100%,合并多发畸形并发畸形漏诊9例,并发症漏诊率10.47%。结论超声对产前胎儿神经系统畸形的诊断具有重要的临床价值。     

积水型无脑畸形1例

患儿,男,２岁。左侧肢体偏瘫,时有抽搐。查体：表情呆滞,言语不清,左侧膝部屈曲不易伸直,左足尖着地,头围较同龄儿发育小,身材矮小。ＣＴ表现：右侧额叶、颞叶、顶叶缺如,分布区见一致性低密度,ＣＴ值为８～１２Ｈｕ。小脑,脑干,右侧丘脑及左侧大脑半球各叶均显示正常。第三脑室,第四脑室位置,形态正常,右侧脑室体部较左侧大,大脑镰结构正常。积水型无脑畸形由Ｐｏｔｔｅｒ于１９５２年首次报告。它的发病机理多认为是胚胎期颈内动脉未发育或发育不良所致。临床上以大脑基本生理功能丧失为其特征。作者单位：２３２０７２　…     

早发儿童失神癫癎的临床和脑电特征

目的：早发性儿童失神癫癎是一种罕见病,国内鲜见报道,故对其临床和脑电图（EEG）特征作进一步探讨。方法：分析我院诊治的2例早发性儿童失神癫痴的临床资料,结合文献复习,比较其与儿童失神癫癎的差异。结果：目前世界上仅有8例报道。本文2例患者均为3岁前起病,表现为反复发作性愣神。例1同时伴眼睑肌阵挛和手自动症;发病早期的发作间期EEG无典型失神样3Hz棘慢波改变,后期的发作间期EEG除典型的3Hz棘慢波外,还可见全面性放电与局灶放电共存,且额区优势较明显;存在轻度精神发育迟缓。例2在病程后期的发作期EEG全面性放电欠规则。丙戊酸或拉莫三嗪单药能控制发作。结论：早发性儿童失神的大部分临床特征类似典型儿童失神癫癎,但也有部分差异。注意到以上这些差异,有助于早期诊断。     

Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome)

We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video-polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements. Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal. Our clinical and neurophysiological study seems to indicate that a particular condition of severe sleep disruption, similar to some extent to that reported in the fatal familial insomnia and in the Morvan fibrillary chorea, which has been indicated as Agrypnia Excitata in recent literature, might be associated with the Mulvihill-Smith syndrome. The inclusion of a detailed study on the sleep characteristics of eventual additional patients will certainly help our understanding of this rare condition.     

TCD血流动力学指标评价急性脑梗死患者认知功能损伤程度的价值

目的 探讨经颅多普勒超声（TCD）检查评价急性脑梗死（ACI）后患者认知功能受损的价值。方法 选取2015年5月~2019年4月我院收治的ACI后合并认知功能障碍的患者110例设为认知障碍组,ACI后认知功能正常患者110例设为ACI组,比较两组的大脑中动脉（MCA）平均血流速度（Vm）、阻力指数（RI）、搏动指数（PI）、MCA的屏气指数（BHI）、不同程度认知障碍患者Vm、RI、PI、BHI测定值及认知障碍患者的MCA的Vm、RI、PI、BHI测定值与MoCA评分的关系。结果 认知障碍组的PI测定值高于ACI组,差异具有统计学意义（P＜0.05）;认知障碍组的BHI测定值、MoCA评分低于ACI组,差异具有统计学意义（P＜0.05）;两组Vm、RI测定值比较,差异无统计学意义（P＞0.05）;中度认知障碍患者的PI测定值高于轻度认知障碍患者,差异具有统计学意义（P＜0.05）;中度认知障碍患者BHI测定值、MoCA评分低于轻度认知障碍患者,差异具有统计学意义（P＜0.05）;认知障碍组PI测定值与MoCA评分呈负相关（r=-0.492,P=0.000）;认知障碍组的BHI测定值与MoCA评分呈正相关（r=0.507,P=0.000）;两组Vm、RI与MoCA评分无相关性（r=-0.084、-0.107,P=0.226、0.214）。结论 ACI患者认知功能障碍患者MCA的PI指数升高、BHI降低,TCD血流动力学指标用于评价ACI患者发生认知功能损害具有一定的临床价值。     

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). We now report 13 novel and two recurrent mutations of ARX, and one nucleotide change of uncertain significance in 20 genotypic males from 16 families. Most had XLAG, but two had hydranencephaly and abnormal genitalia, and three males from one family had Proud syndrome or ACC with abnormal genitalia. We obtained detailed clinical information on all 29 affected males, including the nine previously reported subjects. Premature termination mutations consisting of large deletions, frameshifts, nonsense mutations, and splice site mutations in exons 1 to 4 caused XLAG or hydranencephaly with abnormal genitalia. Nonconservative missense mutations within the homeobox caused less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome. A nonconservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. In addition, several less severe phenotypes without malformations have been reported, including mental retardation with cryptogenic infantile spasms (West syndrome), other seizure types, dystonia or autism, and nonsyndromic mental retardation. The ARX mutations associated with these phenotypes have included polyalanine expansions or duplications, missense mutations, and one deletion of exon 5. Together, the group of phenotypes associated with ARX mutations demonstrates remarkable pleiotropy, but also comprises a nearly continuous series of developmental disorders that begins with hydranencephaly, lissencephaly, and agenesis of the corpus callosum, and ends with a series of overlapping syndromes with apparently normal brain structure.     

Focal posterior cingulate atrophy in incipient Alzheimer's disease

Severe posterior cingulate cortex hypometabolism is a feature of incipient, sporadic Alzheimer's disease (AD). The aim was to test the hypothesis that this region is focally atrophic in very early disease by studying AD patients at the mild cognitive impairment (MCI) stage, and, if so, to determine whether the amount of atrophy was comparable to that of the hippocampus. Twenty-four patients meeting criteria for amnestic MCI, who all subsequently progressed to fulfil AD criteria, and 28 age-matched controls, were imaged with volumetric MRI. Four regions of interest were manually traced in each hemisphere: two posterior cingulate regions (BA 23 and BA 29/30), the hippocampus (as a positive control) and the anterior cingulate (as a negative control). BA 23 and BA 29/30 were both significantly atrophic and this atrophy was comparable to that found in the hippocampus, in the absence of anterior cingulate cortex (ACC) atrophy. Contrary to previous reports, there was no evidence that posterior cingulate atrophy is specifically associated with early-onset AD. The results indicate that posterior cingulate cortex atrophy is present from the earliest clinical stage of sporadic AD and that this region is as vulnerable to neurodegeneration as the hippocampus.     

The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.

The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2/2 was found most often in patients who were severely affected by the disease. The genotype 1/2 was significantly over-represented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1/2 genotype was associated with a mild form, while the 2/2 genotype was found in patients with severe insufficiency. None of our patients had the 1/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.     

Hydranencephaly in an infant with vascular malformations.

Hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with hydranencephaly and congenital vascular malformations (port wine stains, generalized nevus flammeus, anomalous retinal vessels, and absent internal carotid flow). Magnetic resonance imaging of the brain showed absence of most of the cerebrum except for small portions of the occipital cortex and thalami. Magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the internal carotid petrous and cavernous portion. This is a report of cutaneous and retinal malformations associated with hydranencephaly. Vascular malformations of larger vessels (e.g., webbing of the carotid arteries and an absent internal carotid arterial system) have been observed in other infants with hydranencephaly, and are proposed to lead to brain destruction. The case reported herein supports the role of primary vascular malformations in the development of some cases of hydranencephaly.     

Neuropsychological functioning in migraine headache, nonheadache chronic pain, and mild traumatic brain injury patients.

There are conflicting reports in the literature concerning the neuropsychological functioning of migraine headache patients. The finding in some studies that migraineurs performed more poorly than healthy controls led to the hypothesis that chronic migraine may result in subtle but persistent cerebral dysfunction. Reports describing acute and between-headache neurophysiological disturbances in migraineurs lent support to this hypothesis. To elucidate the cognitive status of these patients, we administered a brief neuropsychological battery to 60 individuals with migraine headache (HA), nonheadache chronic pain (PAIN), or mild traumatic brain injury (MTBI). The PAIN group was included to test the hypothesis that cognitive difficulty in migraineurs might result from the discomfort, depression, medications, etc. often associated with chronic pain, rather than from brain dysfunction. The MTBI patients were considered a useful comparison for the migraineurs because their level of impairment was also expected to be mild, at worst. A MANOVA, with three cognitive index scores as the dependent variables, revealed that the three groups differed significantly. Follow-up contrasts demonstrated that the MTBI group was significantly more impaired on the memory index compared to the HA and PAIN groups, which did not differ from each other. The use of two different normative-based cutoffs to identify individuals who were impaired on the test battery revealed that the frequency of impairment within the two groups of pain patients, but not the MTBI patients, was within normal limits. Thus, the results did not support a link between migraine headache and cognitive impairment.