Epilepsy surgery in Sturge-Weber syndrome

A patient with Sturge-Weber syndrome developed seizures at the age of 4 years. At 13 years of age, she had intractable complex partial seizures with marked visual symptomatology. Interictal encephalograms showed bilateral slow activity, more marked over the right hemisphere with epileptogenic activity maximal in the right temporal region. Serial computerized axial tomography scans demonstrated evolution of bilateral occipital lesions with calcification and adjacent low density areas that were more marked on the right. Magnetic resonance imaging, angiography and neuropsychological evaluations were performed. An extensive resection of the right occipital lobe was achieved. One year after surgery, the patient has had seven brief seizures. Delineation of an epileptogenic focus and surgical removal of the lesion in patients with intractable seizures can now be considered in selected patients with bilateral central nervous system pathology.     

Sturge-Weber综合征15例临床分析

目的总结Sturge-Weber综合征的临床特征及诊断依据,以提高对本病的认识。方法对15例SWS患儿的临床表现、影像学特征、实验室资料以及随访进行总结。 结果男5例,女10例。就诊年龄1.5个月至12岁8个月,均以神经系统症状为主要临床表现,癫发作15例,偏瘫11例,智力、体力发育落后于同龄儿12例,头痛3例,卒中样发作3例。11例可见以颜面部为主的皮肤血管瘤。10例于首次就诊时行眼科检查,除1例眼压稍高外余9例均未见异常。15例行头颅CT检查,沿脑回分布的钙化13例,微小钙化2例。15例行头颅MRI检查,可见病灶处呈低信号改变,其中9例可见病灶周围脑沟增深、脑回萎缩。12例行头颅MRI增强扫描,均可见沿脑回走形的线状强化影。13例定期随访,随访6个月至13年,9例仍有癫发作,其中4例发作频繁。 结论Sturge-Weber综合征主要临床表现为癫发作、偏瘫、智力体力发育落后、卒中样发作和头痛,颜面部皮肤血管瘤是本病标志性体征,小年龄儿童眼部异常表现不明显。头颅影像学显示脑回样钙化、软脑膜血管瘤及局部脑萎缩是诊断本病的重要依据。本病预后轻重不一,治疗主要以对症为主。     

Coexistence of pleomorphic xanthoastrocytoma with Sturge-Weber syndrome: MRI features

Pleomorphic xanthoastrocytoma is a rare, cortically based, partially cystic astroglial tumour with a strongly enhancing solid mural nodule. We report an 11-year-old boy with a pleomorphic xanthoastrocytoma in the contralateral hemisphere to that affected by Sturge-Weber syndrome. This unique case supports the association between Sturge-Weber syndrome and astrocytomas. Patients with Sturge-Weber syndrome who experience unexpected neurological symptoms should be evaluated with MRI.     

Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography

Sturge-Weber syndrome (SWS) is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Typical imaging findings using MRI or CT are superficial cerebral calcification, atrophy and leptomeningeal enhancement. We present a neonate diagnosed with SWS because of a port-wine stain. In the absence of neurological symptoms the first MRI was performed when he was 4 months old, and follow-up MRI studies were performed after his first seizure at the age of 12 months. MRI was performed using standard sequences before and after administration of IV gadolinium. A high-resolution T2*-weighted, rf-spoiled 3D gradient-echo sequence with first-order flow compensation in all three directions was used for additional venographic imaging [blood-oxygen-level-dependent (BOLD) venography]. The initial conventional MRI sequences did not demonstrate any abnormality, but BOLD venography identified leptomeningeal internal veins. Follow-up MRI after the first onset of seizures demonstrated strong leptomeningeal enhancement, while BOLD venography revealed pathological medullary and subependymal veins as well as deep venous structures. At this time there were the first signs of atrophy and CT showed marginal calcifications. This report demonstrates that high-resolution BOLD MR venography allows early diagnosis of venous anomalies in SWS, making early therapeutic intervention possible.     

Intracranial calcification mimicking the Sturge-Weber syndrome A consequence of cerebral folic acid deficiency?

Cerebral cortical calcification identical to that of the Sturge-Weber syndrome was observed in two children. In one child the calcification appeared after intrathecal administration of methotrexate and skull irradiation because of leukemia involving the central nervous system. In the other child, who had coeliac disease and epilepsy, the calcification appeared after treatment with anticonvulsants. This treatment was also contributing to the development of profound megaloblastic anemia. The unspecificity of the Sturge-Weber calcification is stressed and the hypothesis is put forward that the calcification may be secondary to folic acid deficiency interfering with the metabolism in the central nervous system.     

Selective epilepsy surgery in tuberous sclerosis

Abstract A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.     

Growth hormone deficiency in Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a disorder involving central nervous system abnormalities that may increase the risk of hypothalamic-pituitary dysfunction. Records of 19 patients with suspected growth hormone deficiency (GHD), identified from a registry of 1653 patients with SWS, were reviewed; nine patients with GHD were found.     

Utility of scalp-recorded ictal electroencephalograms in childhood epilepsy with complex partial seizures

BACKGROUND: The authors evaluated the usefulness of scalp-recorded ictal electroencephalograms (EEG) in diagnosing the epileptogenic area in epilepsy with complex partial seizures. METHODS: The authors analyzed the ictal EEG of 395 seizures in 43 patients with complex partial seizures. Based on EEG findings the patients were classified according to the degree of localization of their onset areas. The results were then compared with neuroimaging findings. RESULTS: Only 10 patients fell into the category 'discrete', meaning that all the onset areas (as measured by ictal EEG) were localized in the same lobe of the same hemisphere. Seven patients were categorized as 'lateralized', meaning that all the onset areas were clearly lateralized in the same hemisphere but without consistent localization. Eleven patients were classified as 'localized', meaning that the onset area were localized simultaneously in bilateral same lobes, or changed consistently from one lobe in one hemisphere to the same lobe in the opposite hemisphere. The onset area could not be defined in 15 patients and these were categorized as 'not defined'. No patient who underwent seven or more ictal recordings was categorized as discrete. However, when confined only to those patients in whom over 75% of the ictal recordings showed the same onset area, there was a high correlation between the epileptogenic lesions detected by ictal EEG and those detected by neuroimaging techniques. CONCLUSIONS: The findings of the present study indicate that ictal EEG recordings are useful for determining the epileptogenic area in epilepsy with complex partial seizures, provided that more than 75% of the ictal recordings show the same ictal onset area.     

New findings in partial trisomy 16q: clinical report

Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia. Conclusion: Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.     

Self-Induced Pattern-Sensitive Epilepsy in Childhood

Abstract. We studied five children (1 boy and 4 girls) with self-induced pattern-sensitive epilepsy. All patients had refractory epilepsy with multiform, though mainly myoclonic, seizures and medium grade to severe mental retardation. Spontaneously self-induced seizures were documented in all cases by EEG. All the patients underwent full neurophysiological assessment (baseline EEG recording, with activation: eyelid closed, hyperventilation, ILS, EEG during the randomized presentation of 3 types of spatial structured stimuli, VEP-F and VEP-PR). The pattern that triggered the EEG anomalies was highly specific and selective for each patient. Clinical seizures were reproduced by the same patterns as the ones used by the patients to bring on the seizures at will. Authors stress the importance of identifying such peculiar type of epilepsy and of attempting adequate treatment.     

Proteus syndrome

Abstract: This female Asian (Malay) baby had clinical features of Proteus syndrome. She had a large right facial lipolymphangioma with hyperpigmentation of the overlying skin. There was a smaller lymphangioma over the left side of her neck with excess nuchal folds, macrodactyly and bilateral talipes equinovarus. Despite the extensive hemifacial swelling, there was no evidence of upper respiratory tract obstruction. Generalized seizures developed on the sixth day of life which were controlled with phenobarbital. The lymphangiomas were excised without recurrence.     

国际抗癫痫联盟2017年版癫痫分类特点及其解读

国际抗癫痫联盟(ILAE)从1909年开始一直在改进癫痫分类法,尤其当1960年提出这个分类方法的新概念之后取得了迅速的发展。1985年,由于新知识的不断积累和激烈的学术争鸣,产生了具有里程碑意义的"ILAE癫痫和癫痫综合征分类",并于1989年进行了修订。后来这个分类对全球范围癫痫的医疗和研究产生了巨大影响[1]。     

Episodic vomiting and headache in children: consider occipital epilepsy

Children with occipital seizures often have ictal autonomic symptoms such as pallor and vomiting and lack motor manifestations. This has lead to misdiagnosis of occipital seizures in children. The following case report highlights the clinical features of a child with occipital epilepsy misdiagnosed as having migraine. The aetiology of symptomatic occipital epilepsy will be discussed.     

颞叶癫痫伴海马硬化与早期复杂性热性惊厥损伤相关生物信息学分析

目的 使用生物信息学分析对早期具有复杂性热性惊厥病史的颞叶癫痫伴海马硬化患者及对照样本的基因芯片数据进行分析,探索颞叶癫痫与早期复杂性热性惊厥的诊断生物标志物及潜在发病机制。方法 从GEO数据库中下载基因芯片(GSE28674),该芯片数据是圣保罗大学医院儿科于2011年收集上传,包括了18例颞叶癫痫患儿海马CA3区转录组数据。利用R软件鉴定有CFS的TLE-HS样本相对于无FS的TLE-HS样本的表达差异基因(differentially expressed genes, DEGs),进行功能和通路富集分析,构建蛋白质-蛋白质互相作用网络(PPIs),寻找hub基因,以hub基因为标志物进行ROC曲线效能分析。结果 本研究采用的芯片GSE28674共包含18个样本,其中6例具有CFS病史的TLE-HS患者,12例无FS。从中共鉴定出254个差异基因,236个上调基因,18个下调基因。GO和KEGG结果表明DGEs主要富集在GABA能突触通路,逆行内源性大麻素信号通路,神经递质分泌,钙调蛋白结合等通路。PPI网络显示连接度最高的hub基因10个,分别是GABRG2,NRXN1,GABR...     

婴儿恶性游走性部分性癫癎综合征研究进展

婴儿恶性游走性部分性癫癎综合征是在婴儿期发病的一种严重的癫癎性脑病,1995年由Coppola等首次报道,目前世界共有近80例报道,国内暂无报道.目前该综合征病因不明,早期诊断困难,传统抗癫癎药物疗效不佳.该文就婴儿恶性游走性部分性癫癎综合征可能的病因、临床特点、诊断、治疗进行综述.     

Minimal surgery in the prune belly syndrome

In the past 20 years 14 patients with the prune belly syndrome have been seen. A treatment regimen consisting of minimal operative intervention, prophylactic antibiotics, and regular surveillance has been followed. Four patients died in the first 4 weeks of life from grossly inadequate renal function and other anomalies. Another patient died in early adult life after a late presentation. The remaining 9 patients have recently been plan using minimal surgical intervention is a satisfactory alternative. Offprint requests to: J. M. Hutson     

Epilepsy in Hydrocephalic Children

ABSTRACT. Epilepsy and epileptogenic activity in EEGs were studied in 168 shunt treated hydrocephalic (HC) children, the mean age at first operation 1.62 years (SD 1.87). 80 patients (47.6%) suffered from epileptic seizures during the follow-up period (mean 8.9 years). The epileptic seizures appeared before the initial shunting, and after the first shunt inplantation in 43 (25.6%). There was no correlation between epilepsy and the aetiology of HC, number of shunt revisions, or shunt infections. Sixteen patients suffered from seizures during the neonatal period. Generalized spike and wave activity (SWA) was seen in EEG in eight out of these, and only one was seizure-free at the end of the follow-up period. All eight patients with epileptic seizures during the neonatal period without generalized SWA in EEG were seizure-free, however. SWA was seen in the first EEG prior to shunting in 75/168 patients (44.6%). All those patients who did not receive prophylactic medication, developed epileptic seizures, whereas 68.1% of those who received prophylactic anticonvulsive medication remained free of seizures. Partial epilepsy after shunting manifested itself in 15 patients, but this did not correlate with the side of the sunt or with the side of the SWA in the EEG. Slit ventricles (SLV) developed in 75 patients during the follow-up period, while the ventricles remained normal or dilated in 66 cases (27 patients had no CT follow-up). Epilepsy manifested itself in 8 out of these 141 patients (2 SLV, 6 non-SLV) during the first postoperative year, and in 29 patients in the SLV group and one in the non-SLV group at some time after the first postoperative year.     

婴幼儿难治性癫痫的早期外科治疗对智力的影响

目的 探讨婴幼儿难治性癫痫外科手术的适应证、方法 和预后.方法 回顾性分析了2000年1月至2008年1月间,采用外科手术治疗54例婴幼儿难治性癫痫的经验. 结果 术后疗效按Engel分级,Ⅰ级为18例,Ⅱ级15例,Ⅲ级13例,Ⅳ级8例,有效率为81.5%,优良率61.1%.术后1～2年智力检查Gesell评分大多有不同程度的提高. 结论 外科手术是治疗婴幼儿难治性癫痫的良好手段.对于智力发育停滞或恶化的婴幼儿癫痫患者,如果临床判断有难治倾向应考虑进行外科治疗.