A patient with simplified gyral pattern followed by progressive brain atrophy

We present the case of a three-year-old boy who suffered from intractable epilepsy from birth, and who displayed microcephaly and severe developmental delay. Neuroradiological examination revealed the presence of simplified gyri of the cerebral cortex, and increased signal intensity changes in the cerebral white matter on T2-weighted magnetic resonance imaging. A tentative diagnosis of congenital cortical malformation was made, but unexpectedly, the cerebrum, cerebellum, and pons showed a progressive atrophy during the follow-up period. The basal ganglia and thalamus were relatively spared. Investigations could find no evidence of leukodystrophies, metabolic disorders, hereditary brain anomalies, or congenital central nervous infections. This case may represent a novel type of neurodegenerative disease with malformation of cortical development.     

脑干海绵状血管瘤治疗的研究进展

脑干海绵状血管瘤(brain stem caverous malformation,BSCM)是一种特殊类型的海绵状血管瘤(cavernous malformation,CM).与幕上病灶相比,BSCM具有更明显的出血倾向,引起的临床症状也更严重,手术切除是根治BSCM的唯一方法.近年来,随着神经影像学的进步,神经导航、神经电生理监测的应用以及显微神经外科技术的提高,BSCM的手术效果明显提高.笔者结合自己的临床经验,对BSCM的发病特点、临床治疗和预后等做一综述. 一、发病特点 BSCM的发病率占颅内CM的9％～35％,可发生于任何年龄,多见于20～50岁患者,中脑、桥脑及延髓均可被累及,其中桥脑最多见[1].临床上桥脑病例约占65％以上.     

Midline “brain in brain”: an unusual variant of holoprosencephaly with anterior prosomeric cortical dysplasia

Introduction We report three cases of brain malformation presenting with a midline mass of dysplastic cortex that we have termed “brain in brain” malformation. Results The three cases have holoprosencephalic features, including bilateral hemispheric continuity across the midline, single ventricle, midline facial defect and missing olfactory bulbs. All three cases have a midline conglomerate mass of deeply infolded, cortex-lined fissures with major arterial branches, heterotopia and large amount of white matter. The dysplastic mass of cortex and white matter extended into the third ventricle. The cortex and white matter of the dysplastic lesion was continuous with the cortex and white matter, respectively, of the cerebral hemispheres. Conclusion The midline “brain in brain” malformations have some similarities to subcortical heterotopia and extracerebral glioneuronal heterotopia. However, the continuity with the cerebral hemispheres and extension into the ventricle were not reported in subcortical or glioneuronal heterotopia. The common involvement of the midline cortex and extension into the third ventricle implied an anterior segmental prosencephalic abnormality (prosomeres 5/6). However, its pathogenesis remains to be explained.     

国产α-氰基丙烯酸正丁酯栓塞治疗脑动静脉畸形的临床研究

目的　本组报告用自行研制的胶体栓塞剂ａ氰基丙烯酸正丁酯（ＮＢＣＡ） 栓塞治疗脑动静脉畸形（ＡＶＭ） １０６ 例。方法　均经股动脉和同侧颈动脉入路, 使用ＮＢＣＡ 的方法有三种： 包括完全根据畸形血管团的动静脉循环时间配制不同比例的碘苯酯和ＮＢＣＡ混合液; 微螺旋圈和ＮＢＣＡ混合栓塞; 循环时间长于２ 秒时直接注入３０ ％ 的ＮＢＣＡ混合液。结果　单支供血的ＡＶＭ均在一次栓塞后完全消除; 多支供血的ＡＶＭ 在栓塞１ ～３ 次后畸形血管团消除范围从４０％ ～１００％ 不等。结论　国产ＮＢＣＡ在栓塞脑ＡＶＭ 的弥散性能良好, 聚合速度可控制, 是治疗脑ＡＶＭ 性能良好的栓塞材料。     

NBCA栓塞治疗脑动静脉畸形并发症分析

目的探讨NBCA栓塞治疗脑动静脉畸形(AVM)的并发症的发生率及高危因素.方法回顾性研究469例施行NBCA栓塞治疗的脑AVM的临床和影像学资料,总结并发症的情况以及分析他们的血管构筑学特征.结果469例脑AVM共行1108次栓塞,每例栓塞1～8次,平均2.3次;共发生并发症11例(出血性并发症4例,缺血性并发症7例),其中死亡2例,植物生存l例,轻度永久性神经功能缺损1例,短暂性神经功能缺损7例.结论本组脑AVM行NBCA栓塞治疗有较低的手术相关并发症.但对于栓塞高危病人,应采取特殊的栓塞策略.     

Clinical manifestations and evaluation of isolated lissencephaly

Lissencephaly (smooth brain) is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.Presented at the Symposium on Lissencephaly and Related Disorders, Münster, Germany, 13 July 1992     

Development and dysgenesis of the cerebral cortex: malformations of cortical development

The cerebral cortex develops in several stages from a pseudostratified epithelium at 5 weeks to an essentially complete cortex at 47 weeks. Cortical connectivity starts with thalamocortical connections in the 3rd trimester only and continues until well after birth. Vascularity adapts to proliferation and connectivity. Malformations of cortical development are classified into disorders of specification, proliferation/apoptosis, migration, and organization. However, all processes are intermingled, as for example a dysplastic cell may migrate incompletely and not connect appropriately. However, this classification is convenient for didactic purposes as long as the complex interactions between the different processes are kept in mind.     

Posterior fossa cysts: clinical,neuroradiological and surgical features

Various types of neuroimaging investigations were performed in 26 patients with posterior fossa cysts. The results were retrospectively analyzed to facilitate differential diagnosis and clarify indications for surgery. Four major findings were obtained in this study. First, posterior fossa intra-arachnoid cysts were encountered more frequently than expected and were found to be surgically treatable. Second, although IV ventricular cysts were categorized as Dandy-Walker malformation, Dandy-Walker variant, and persistent Blake's pouch in this study, the distinctions of neuroimaging findings between these three types are uncertain. Third, the diagnostic criteria for mega cisterna magna were established, and it was found be be a surgically untreatable condition. Finally, in cases with the following neuroimaging findings, surgery appears to be indicated: (1) occipital bossing or petrosal scalloping with distortion or obliteration of cerebrospinal fluid (CSF) cisterns of the posterior fossa; (2) compression and deformity of the brain surrounding the cyst; (3) radioisotope and/or computed tomography cisternographic findings suggestive of disturbance of intracystic CSF circulation; (4) a non-communicating cyst.     

Three-dimensional rotational angiography in the assessment of the angioarchitecture of brain arteriovenous malformations

Background and purpose

The angioarchitecture of brain arteriovenous malformations (BAVM) still remains a complex subject of study despite advances in medical imaging techniques. For this reason, the present study aimed to assess whether or not 3D rotational angiography (3DXA) might improve the assessment of BAVM.

Patients and methods

Included prospectively were 72 patients who had undergone conventional digital subtraction angiography (DSA) and 3DXA for pretherapeutic assessment of BAVM prior to radiosurgery. Dimensional criteria, arterial-feed patterns, venous drainage, points of weakness and vascular densities (VD) of the nidus and shunt zone were studied.

Results

3DXA detected all arteriovenous shunts by revealing abnormal venous enhancement. Post-processing tools similar to CT and MRI may also be used to make complex 3D reconstructions. In addition, the technique provided significant help for volumetric estimations, extraction of arterial feeders and origins of draining veins, and analysis of the 3D conformation of the nidus. Furthermore, 3DXA detected significantly more points of weakness, such as intranidus aneurysms and venous anomalies (P < 0.005). In 65% of cases, a gradient of vascular enhancement intensity was found between the arteries and draining veins surrounding or comprising the nidus. VD, or the percentages of space occupied by the enhanced vascular elements, was evaluated in both the nidus and shunt zone. VD in the shunt zone was highest in untreated patients with no history of bleeding (P < 0.005).

Conclusion

3DXA offers a useful approach to BAVM exploration and can improve our knowledge of lesional angioarchitecture, necessary for the planning of therapeutic strategies.     

脑动静脉畸形的介入治疗

应用国产医用真丝段行血管内栓塞治疗脑动静脉畸形33例。所有病例均行选择性全脑血管造影,取得主要供血动脉后,采用Magic1．8F微导管超选择进入大脑前、中动脉直至病灶内。栓塞剂为5／0真丝线段,栓塞至畸形血管团消失或减少。本组栓塞后临床症状改善显著,显示了介入放射学的优越性。     

Neurosurgical management of congenital malformations of the brain

Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles.     

Initial experience with endoscopic third ventriculostomy in Nigeria, West Africa

Objectives Endoscopic third ventriculostomy (ETV) as an alternative to traditional shunt surgery in the management of hydrocephalus of different etiologies is new in Nigeria and West Africa, with no published data till date. This initial study was done to determine the success rate and complication among our patient population. Materials and methods This series consists of a prospective study of the clinical and radiological features and outcome of the first 25 consecutive patients who underwent ETV. ETV was considered to be successful when there was no event occurring during surgery that resulted in the procedure being aborted, postoperative neurological deficit, or adverse event that resulted in a modification of the normal postoperative care. Patients follow-up was for a minimum of 2 months. Results There were 14 males and 11 females. The median age of the patients was 6 months, ranging from 1 month to 48 years. The study included obstructive hydrocephalus because of aqueductal stenosis, Dandy Walker malformation, and pineal region tumor. ETV was successful in 23 patients. Two patients had cerebrospinal fluid leak and superficial surgical site infection. There was no mortality. Conclusion ETV in this series is safe with comparable surgical outcomes to conventional ventriculoperitoneal shunt surgery, and minimal postoperative morbidity has been observed. A commentary on this paper is available at .     

显微外科手术治疗大型脑动静脉畸形

目的对显微外科手术治疗的13例大型脑动静脉畸形的手术治疗效果进行分析,探讨大型脑动静脉畸形的治疗策略和手术要点。方法共手术治疗13例大型动静脉畸形。外院曾行血肿外引流2例,血肿清除去骨瓣减压1例。全部位于功能区。Spetzler-Martin分级:Ⅳ级7例,Ⅴ级6例。4例行术前栓塞治疗。在我院均行动静脉畸形切除术。结果 6例无明显并发症。余7例主要并发症是偏盲、轻度失语、肌力下降及癫痫等,多数均逐渐恢复。10例动静脉畸形获全切,3例少量残留。残余动静脉畸形行伽玛刀治疗。结论动静脉畸形的最大危害是颅内出血,严重者可导致患者死亡。显微外科手术全切除是最有效的治疗方法。术前充分准备,采用正确的手术方法,术中术后控制血压,高级别大型动静脉畸形可以获得良好的治疗效果。     

Arteriovenous malformations of the brain in children

A survey of 23 children treated for arteriovenous malformations of the brain is presented. Venous angiomas and aneurysms of the vein of Galen were excluded. Spontaneous hemorrhage was the first symptom in 83%. Angiographically occult arteriovenous malformations were found in 22% of cases. Contrast-enhanced CT failed to opacify abnormal vessels in most of these occult lesions. Fourteen patients underwent complete excision of their malformation with only 1 death (7.1% surgical mortality). Overall mortality for the group was 21.7%. Outcome was related to treatment modality and clinical condition on presentation. Four of 8 patients presenting in deep coma died, but 3 are normal and one slightly disabled. A spontaneous cerebral hemorrhage in a child is probably due to a vascular malformation, even when angiography and enhanced CT are negative. Optimal management consists of complete removal of the malformation; residual lesions tend to rebleed with fatal outcome. With aggressive treatment, complete recovery is possible even for children who present in coma.     

立体定向伽玛刀治疗脑动静脉畸型研究

目的评估伽玛刀(γ-刀)立体定向放射手术治疗脑动静脉畸形(AVM)的疗效;探讨脑AVM的γ-刀治疗定位方法。方法用立体定向Leksellγ-刀放射外科治疗系统对216例脑AVM进行γ-刀立体定向放射手术,并随访17～31个月。男性患者162例,女性54例,年龄1.5～83岁(Md=26),Spetzler Martin分级:I级42例,Ⅱ级68例,Ⅲ级95例,Ⅳ级7例及Ⅴ级4例。AVM体积0.3～43.9cm3(Md=7.1),放射手术周边剂量12～30Gy,平均(21.2±6.4)Gy。用1.5Tesla磁共振行磁共振血管造影(MRA)定位156例,数字减影血管造影(DSA)定位22例,MRA与DSA联合定位38例。结果γ-刀治疗后的AVM闭塞情况和并发症的发生与其体积、分级、定位方法、周边剂量、剂量规划及质量控制等因素有关。对体积≤5.0cm3或Spetzler Martin分级<Ⅲ级及周边剂量≥20Gy者,其2年闭塞率超过78.5%。本组有4例γ-刀放射手术后出血,9例并发有明显症状的放射性脑水肿。结论γ-刀高科技手术是治疗脑AVM的一种安全、有效的方法,特别是Spetzler MartinI-Ⅱ级或体积≤5.0cm3的AVM及周边剂量≥20Gy者疗效较好;DSA结合MRA联合定位对提高AVM的闭塞率、降低并发症有帮助。     

Effects of severe hypoglycemia on the human brain neuropathological case reports

The neuropathological findings in two cases of irreversible hypoglycemic brain injury are described. A 26-year-old diabetic man injected insulin without adequate food intake and died after 2 months in coma. An 84-year-old nondiabetic man accidentally received 10 mg of glibenclamide and died after 3 months in relatively superficial coma.
In the first case, an extensive necrotizing injury with gliosis was present in the cerebral cortex with temporal preponderance, as well as in the amygdalae and hippocampus. Lesions were also present in the putamen and caudate nucleus whereas the globus pallidus and thalamus were less severely destroyed. The distribution of the lesions was therefore somewhat different from that commonly seen in hypoxic-ischemic brain injury, which, together with some previously published data, suggests some difference in the pathogenesis of hypoglycemic vs. hypoxic-ischemic brain injury.
In the second case only a slight loss of cortical neurons with secondary gliosis could be attributed to the hypoglycemic insult. This case demonstrates the danger of accidental intake of sulfonylurea preparations, which can cause an irreversible brain injury due to their prolonged hypoglycemic effect.     

Developmental malformations in cerebral structures in "endogenous psychoses"

Summary. The last decades have revealed several structural deviances in patients with so called "endogenous psychoses". Reasonably well established are the enlargement of the lateral ventricles and subtle structural deficits in temporobasal and orbital frontal structures (hypofrontality) in a majority of schizophrenic patients. It is the aim of this investigation to examine the cytoarchitecture of these important central structures, namely the entorhinal region and the orbitofrontal cortex (Brodmann area 11) which have been under meticulous investigation in our laboratories over decades (for review: Beckmann, 2000). Received September 4, 2001; accepted September 14, 2001     

Role of aspirin and statin therapy in patients with cerebral cavernous malformations

Stagnant blood flow and organizing thrombus are intralesional components of patients with cerebral cavernous malformations (CCM). Stasis and inflammation are mechanisms of growth, lesional instability and acute hemorrhages with or w/o symptoms. We evaluate the association of pre-diagnostic aspirin and/or statin use with acute hemorrhages at diagnosis. Patients with a CCM diagnosis were identified and categorized according to their medications on admission into four groups (no therapy, statin, aspirin, combined). The primary outcome was an acute hemorrhage (with or w/o symptoms) at diagnosis reported in a standardized manner from the T2 weighted magnetic resonance image. A multivariate generalized linear mixed models (GLMM) was utilized to conduct per-lesion analysis. We identified 446 patients with 635 lesions. An acute hemorrhage at diagnosis was observed in 31% of the patients. There were 328 patients without statin or aspirin therapy, 34% of whom presented with acute hemorrhage. Of patients on aspirin therapy at diagnosis, 25% presented with hemorrhage. Of patients on statin therapy, 26% had a hemorrhage at diagnosis. Combined therapy in 44 patients demonstrated a lower proportion of patients with acute hemorrhages (7 patients, 16% incidence). A GLMM showed that patients in the combined therapy group to have significantly lower odds of having an acute hemorrhage at diagnosis compared to the reference group of no therapy (OR 0.24; 95% CI 0.09–0.59; P = 0.002). Patients with a CCM receiving therapy with both aspirin and statins were less likely to present at diagnosis with acute hemorrhage.     

MR imaging of fetal brain malformations

Methods From the generally accepted data on the morphogenesis of the brain, the principles for the classification of brain malformations are given, and the salient features of each malformation which may be considered as independent from the developmental stage and therefore practical for MR imaging in the fetus after mid-gestation, are discussed.Results and discussion However, the correlation with the clinical results in 150 cases of malformations out of a series of more than 1,000 cases of MR fetal brain imaging, demonstrates that beside the main, well-defined malformative entities, a significant degree of uncertainty remains. As the indication of further imaging is mainly based on the ultrasonographic findings, cases that are not identified as abnormal by US are not submitted to MRI (partial commissural agenesis and malformations of cortical development). A striking discrepancy exists between the findings of US and those of MRI, in the specific instance of the disorders of the posterior fossa (cystic malformations versus mega cisterna magna versus cerebellar defects), which may be only partly corrected by the use of strict anatomic criteria. Similar difficulties are observed for the diagnosis of nondestructive microcephaly.Conclusion Long-term prospective longitudinal clinical-radiological studies of these groups of patients are needed.     

Holoprosencephaly with neurogenic hypernatremia: a new case

Background Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5–12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur. Case report We report a new case of semilobar-HPE complicated by neurogenic hypernatremia and no signs of dehydration in a child with microcephaly, spasticity, mental and psychomotor retardation, frontal bones hypoplasia, and mild facial dysmorphism.