Persistence of primitive cerebral vasculature in a newborn A case report of whole brain AVM

A case of a two-day-old infant with a massive arteriovenous malformation involving the entire brain vasculature is reported. The appearance of the cerebral vasculature on computed tomography scans and angiographic studies in this newborn is similar to the primitive vasculature in an embryo. The findings in this case give strong support to ontogenesis maldevelopments as the etiology of cerebral arteriovenous malformations. The role of embryogenesis in the development of an arteriovenous malformation is discussed as it contrasts with other pathogenetic hypotheses.     

ET-A在脑血管畸形血管中表达的实验研究

目的探讨内皮因子受体A（ET-A）mRNA在脑血管畸形血管中的差异性表达。方法对14例脑血管畸形和8例正常脑血管标本分别提取总RNA。应用逆转录-聚合酶链反应的方法检测ET-A mRNA的表达，然后行DNA电泳鉴定，并进行光密度扫描，半定量计算ET-A mRNA的表达。结果在脑血管畸形血管中ET-A mRNA表达水平较正常脑血管中明显下降（P〈0．05）。结论脑血管畸形血管与正常脑血管中ET-A mRNA表达有差异性，为研究其在病理情况下的作用作了前期工作。     

Hemimegalencephaly: a misleading EEG tracing

Hemimegalencephaly is a rare cerebral malformation that usually presents with mental retardation, controlateral hemiparesis and intractable seizures. We report a case of hemimegalencephaly diagnosed in adulthood based on MRI findings. The electroencephalogram initially suggested partial status epilepticus. The diagnosis of this cerebral malformation has been made easier thanks to recent progress in cerebral imagery with MRI. We describe and discuss the relevant encephalographic aspects.     

Normal galenic drainage of the deep cerebral venous system in two cases of vein of Galen aneurysmal malformation

Introduction Vein of Galen aneurysmal malformations (VGAM) are assumed to be related to the persistence of the embryonic median prosencephalic vein of Markowski, which does not involute in cases of VGAM and becomes the venous collector of the shunt, characteristic of the malformation. The arterial feeders of VGAMs are all primitive meningeal arteries present during the embryonic period of the constitution of the malformation. It has also been assumed that the internal cerebral veins were absent in patients presenting with VGAM. There is no clear evidence indicating, however, that the deep venous structures cannot develop normally.Case reports We report on two cases of VGAM in which superselective retrograde transvenous catheterization and MRI demonstrated that normal internal cerebral veins were draining into the aneurysmal vein of Galen.Conclusions It is conceivable that, as in our patients, this drainage pattern is only angiographically detectable via selective retrograde transvenous drainage. The possibility of such normal deep galenic venous drainage must be considered in VGAM management, as it may imply occurrence of adverse effects when the malformation is occluded on the venous side.A commentary on this paper is available at     

眶内眼动脉瘤合并脑海绵状血管畸形一例并文献复习

目的探讨眶内眼动脉瘤合并连续出血的脑海绵状血管畸形的临床表现特点和诊治要领。方法报告1例眶内眼动脉瘤并发反复出血的脑海绵状血管畸形患者临床资料,并复习相关文献。结果该患者先行脑海绵状血管畸形切除,分期手术作眶内眼动脉瘤夹闭,治疗结果良好。结论眶内眼动脉瘤极其罕见,应个体化制定治疗方案;手术夹闭动脉瘤颈是眶内眼动脉瘤的首选治疗方法。     

Neurenteric cyst of medulla oblongata--a curiosity

A case of a newborn infant with a complex cerebral malformation, including a neurenteric cyst of medulla oblongata is presented. This localization is extremely rare, only one such case has been reported in the world literature. Other cerebral malformations were spina bifida posterior with cervico-dorsal dysraphia, cerebellar hypoplasy, cervico-dorsal cystic meningocele and hydrocephalus. The etiology of this complex malformation remained unknown.     

THE MODE OF DEVELOPMENT OF AN INHERITED FORM OF ANENCEPHALY IN THE HOUSE MOUSE

Anencephaly in the xn strain of mouse is a condition determined by a single autosomal recessive gene. At birth, affected animals bear a cap of degenerate cerebral tissue devoid of bony covering. The early development of this malformation was studied in embryo mice from the stage of neural groove formation until after the neural tube has normally closed. The abnormal embryos could be recognized before the anterior neuropore had completely closed in normal litter mates. Detection of the cerebral malformation at this early stage of gestation suggests that the inherited murine anencephaly is due to primary failure of the neural tube to close.     

Pericapillary arteriovenous malformations angiographically manifested as cerebral venous malformations

Cerebral venous malformations have been diagnosed by angiographic features and are considered to be a benign anomaly. However, ample evidence indicates that stroke or similar symptomatology occurs in patients harboring a cerebral vascular malformation that was diagnosed angiographically as a venous malformation. The purpose of the study is to confirm the presence of a pericapillary arteriovenous malformation in these patients by analyzing the clinical history and surgical findings and correlating them with histological features. Thirteen patients were included in this study. Each patient fulfilled four criteria: 1. the patient was neurologically symptomatic; 2. the angiographic diagnosis was a venous malformation; 3. at operation, shunting arterioles (50-100 microns) were found to contribute to the malformation; and 4. histologically, a mixture of venous channels and arterioles with arterioles directly connected to venules was found. Based on the above findings, the malformation present in the 13 patients can be termed a 'pericapillary arteriovenous malformation'. Its angiographic distinction from the cerebral venous malformation requires technological advancement in the capability of magnifying images of arterioles and venules, along with improvement in image resolution.     

Agenesis of the vermis with fusion of the cerebellar hemispheres,septo-optic dysplasia and associated anomalies

Summary Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of the septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed.     

显微手术治疗脑动静脉畸形破裂出血94例

目的:探讨脑动静脉畸形(AVM)出血后显微手术治疗的效果。方法:回顾性分析2007年1月至2011年10月收治的94例AVM破裂出血后经显微手术治疗患者的临床资料。结果:术后随访1~36个月,随访患者81例,其中恢复良好者63例;轻残10例;重残6例;植物生存状态2例。58例患者术后复查DSA或MRA提示畸形血管团全部切除。结论:显微手术是治疗脑血管畸形破裂出血的首选方法。     

Spontaneous thrombosis of a giant aneurysm after excision of an associated vascular malformation. Report of a case

A case of a patient with a giant aneurysm of the left middle cerebral artery and a huge arteriovenous malformation hemodynamically related is reported. Complete thrombosis of the aneurysm was observed after extirpation of the arteriovenous malformation as shown by angiography one week, six months and a year post-operatively. Reduction of the regional cerebral blood flow after extirpation of the arteriovenous malformation and the natural tendency of these giant aneurysms to partially thrombose were to be the explanation for our results.     

Glubran(NBCA-MS)胶栓塞脑动静脉畸形临床研究

目的 探讨Glubran(NBCA-MS)胶栓塞脑动静脉畸形的临床技巧及治疗效果.方法 在DSA监测下对96例脑动静脉畸形患者采用不同浓度的意大利GEM公司生产的Glubran(NBCA-MS)胶进行187次血管内栓塞治疗,并对患者进行跟踪随访,了解临床效果.结果 96例患者中临床随访92例未再出现临床症状,症状好转3例,复发1例.48例行脑血管造影复查,其中44例畸形血管团完全消失,其余栓塞程度达80%～90%以上,进一步行γ-刀放射治疗.本组共32例栓塞后行γ-刀放射治疗,其中26例患者治疗1～2年后行DSA造影检查,21例畸形血管团完全消失.结论 用Glubran(NBCA-MS)胶血管内栓塞治疗脑动静脉畸形是一种安全、有效的治疗手段.     

Holoprosencephaly in a bovine calf

Summary Holoprosencephaly, a rare brain malformation previously unreported in the bovine species, was observed in a female Hereford calf. The malformation was characterized by lack of the longitudinal cerebral fissure and the falx cerebri with fusion of the cerebral hemispheres and a single hydrocephalically dilated lateral ventricle, absence of olfactory bulbs and nerves, corpus callosum and septum pellucidum, and heterotopia. The face was flat. There were mild ocular hypotelorism and severe microphthalmia. The morphological features of this bovine case were compared to those of human infants, and various possible etiologic factors and pathogenesis were discussed.     

Molybdenum cofactor deficiency associated with Dandy–Walker complex

Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral injury is unknown, but sulphite excess, and sulphate or uric acid deficiencies are possible factors. We present here a new case of Molybdenum cofactor deficiency associated with Dandy–Walker complex with a history of three dead siblings, the latter also having Dandy–Walker malformation. We speculate that severe cerebral volume loss due to the above mentioned mechanisms may lead to an appearance resembling Dandy–Walker malformation.     

磁敏感加权成像在脑静脉性血管畸形诊断中的应用

目的探讨磁敏感加权成像(SWI)在脑静脉性血管畸形中的诊断价值。方法回顾性分析21例脑静脉性血管畸形患者的影像学资料,所有患者均行常规MRI平扫与SWI序列扫描,评价SWI序列对脑静脉性血管畸形检出的优越性。结果 SWI发现脑静脉性血管畸形21例,T1WI发现病灶17例,T2WI发现病灶18例,常规MRI扫描序列呈点状或条形流空信号,且只可显示大部分扩张的引流静脉及部分扩张的髓静脉,SWI可以清晰的显示所有扩张的髓静脉及粗大的引流静脉,呈典型"水母头"状。结论 SWI较常规MRI扫描序列对脑静脉性血管畸形的显示更为敏感。     

Developmental aspects of type II lissencephaly

We report neuropathological studies of five cases of type II lissencephaly from three fetuses and two infants. This comparative study allowed us to determine the developmental course of the cerebral lesions. Two distinct developmental events seem to generate this type of brain malformation: firstly, an early disturbance in cortex formation, which results both from a disorder of radial migration and a pial barrier disruption; secondly, a late perturbation of cerebral surface organization, resulting in fusion of the cerebral surface. All these features can be related to a primitive meningeal pathology, and more generally, to a neurocristopathy. Accordingly to our observations, this brain malformation appears during both migrational and post-migrational stages and may be considered more like a polymicrogyria than a lissencephaly.     

A case of arteriovenous malformation associated with venous malformation]

A case of arteriovenous malformation associated with venous malformation is reported. A 35-year-old male patient suffered intracerebral hemorrhage in the left occipital with acute subdural hematoma. Angiography showed an arteriovenous malformation fed by the left middle cerebral artery. The hematoma and nidus was operatively removed. He also had a venous malformation in the left temporal lobe. This rare case is reported with some discussion.     

Neuroimaging features and pathology of mixed glioblastoma-AVM complex: A case report

This report is of a rare case of glioblastoma coexisting with an arteriovenous malformation in a 65-year-old man. Multimodal magnetic resonance imaging (MRI) performed at 3T revealed a necrotic and cystic lesion in the left hemisphere; morphological and metabolic findings were consistent with an infiltrating high-grade glioma, but the presence of dark vessel-like signals on T2* and susceptibility-weighted imaging (SWI) suggested the coexistence of a vascular malformation. The arteriovenous malformation was confirmed by MR angiography and cerebral angiography. The patient was operated on, and histological examination revealed atypical cells characteristic of glioblastoma multiforme and, in the same area, arteriovenous malformation. The possible role of angiogenic factors in this case is also addressed.     

Das chronische eingekapselte intrazerebrale Hämatom

The purpose of this case report is to describe chronic encapsulated intracerebral hematoma (CEIH), a rare and not fully understood brain lesion. The differentiation from chronic cerebral hematoma, cerebral abscess, and intra-axial tumor is based on clinical and imaging criteria. The diagnosis is confirmed by histological analysis. In the English medical literature, we found 39 patients reported with this lesion. The key feature is the formation of a capsule between a hematoma and cerebral parenchyma. The reasons for this formation are not known. In our patient, an arteriovenous malformation was located outside but adjacent to the CEIH.