热性感染相关性癫(癎)综合征的研究进展

国外学者报道了一组既往正常的儿童,在发热后出现难治性部分性癫(癎)或癫(癎)持续状态,预后存在认知功能障碍以及药物抵抗性癫(癎)的临床病例,将其命名为热性感染相关性癫(癎)综合征.目前该病病因不明,病情危重,预后差,脑脊液、脑活检和神经影像学未见特异性改变,尚无明确有效的治疗方法,有报道生酮饮食可能有效.该文就热性感染相关性癫(癎)综合征的临床特点进行综述.     

6例儿童持续性部分性癫癎患者的病因学及临床分析

目的 探讨儿童持续性部分性癫癎（EPC）患者的病因学及临床特点,促进对EPC的认识。方法 回顾性分析6例有EPC发作的儿童癫癎患者的临床特点及诊疗过程,并比较不同病因所致患者的临床及实验室特点和预后差异。结果 6例患儿中男1例、女5例,起病年龄在1岁7个月至9岁,2例诊断为Rasmussen脑炎（RE）,1例为局灶性皮层发育不良（FCD）,1例为POLG基因突变所致Alpers综合征,1例为Angelman综合征（AS）,1例为结核性脑膜炎,后两例患者EPC发作分别有癫癎持续状态所致急性脑病和颅脑手术的诱因,余4例患儿EPC发作为自然病程进展。所有患者具有除EPC以外的局灶性癫癎发作,症状学包括自动症、双侧非对称性强直、偏转、复杂运动、植物神经症状等,部分伴有意识障碍。EPC持续时间为数天或数月。所有患儿头颅磁共振（MRI）均有异常发现,包括局部异常信号、皮层肿胀、弥漫或一侧脑萎缩、局部皮层增厚、层状坏死等。3例患者行头颅PET/CT扫描并发现局部高代谢或高代谢与低代谢并存。所有患儿脑电图（EEG）均有异常,异常电活动分布分别为脑区性、半球性或弥漫性,EPC发作时EEG改变部分可识别、部分不易辨认。所有患者EPC发作对于抗癫癎药物治疗均不敏感,AS患儿的EPC相对自限;FCD患儿行癫癎病灶切除术,术后发作控制,未遗留神经功能障碍;1例诊断为RE的患儿,行功能性大脑半球切除术,术后无发作,遗留明显功能障碍。Alpers综合征患者预后最差。结论 EPC是特殊癫癎发作类型,儿童患者的病因以免疫炎症及代谢性病因为主,治疗方案的选择、疗效及预后取决于病因。     

癫发作的分类

阐述2001年癫(癎)发作分类新建议对癫(癎)发作类型重新划分的新观点及术语、概念的变化,并对一些新列入的发作类型进行r简单的介绍.新建议中的癫(癎)发作类型主要是依据其病理生理机制和解剖基础的分类,是集病因、治疗和预后为一体的诊断实体,可以对癫(癎)综合征的诊断起补充作用,或在不能作出癫(癎)综合征诊断时,单独进行诊断.现对国际抗癫(癎)联盟2001年与1981年提出的癫(癎)发作分类进行比较.     

皮质激素在癫(癎)治疗中的应用

皮质激素在癫(癎)中的应用已有近50 a的历史,现已证明其对某些癫(癎)综合征如婴儿痉挛症、landau-Kleffner综合征、Rassmussen综合征、具有睡眠中癫(癎)性电持续状态的癫(癎)综合征等具有肯定的治疗作用,其确切的作用机制尚不清楚.在皮质激素应用过程中应注意其不良反应.     

癫(癎)的诊断

正确诊断癫(癎)无疑是正确治疗癫(癎)的关键.诊断癫(癎)首先要仔细地询问相关病史,认真的体格检查,准确的脑电图解读,完善的神经影像、神经生物学和遗传学等相关检查.在此基础上进行癫(癎)发作的分型和癫(癎)综合征的诊断,进而寻找癫(癎)的病因.     

获得性癫(癎)性失语研究进展

获得性癫病性失语是一种年龄相关性癫(癎)综合征,是癫(癎)性脑病中的一种.其病因和发病机制还不完全清楚,在发病机制方面取得的新进展主要有易患基因的发现、自身免疫反应机制及脑组织代谢异常等,但每种机制仅能解释其中的部分临床现象.治疗上,除了舒噻嗪、左乙拉西坦等新抗癫(癎)药的研究外,还有激素和免疫球蛋白的应用,另外还出现...     

获得性癫癎性失语1例报告及文献复习

目的探讨中国人获得性癫癎性失语的临床特征.方法获得性癫癎性失语1例报告并复习文献,对37例诊断为获得性癫癎性失语患儿进行临床资料分析.结果获得性癫癎性失语均发作于儿童期,临床均有失语及脑电图癫癎样放电.其中以混合性失语及脑电图棘-慢复合波为多见,多数临床有癎样发作.结论中国儿童获得性癫癎性失语的癎样发作及失语多数控制良好.     

伴有非癫癎发作的322例脑性瘫痪临床分析

目的：了解伴有非癫癎发作的脑性瘫痪（脑瘫）的临床特点,以提高与癫癎发作的鉴别能力。方法：1 198例9个月至6岁的脑瘫患儿纳入研究,对伴随发作性症状的患儿进行24 h视频脑电图监测,明确伴随的发作是否为癫癎发作,并观察伴随非癫癎发作患儿的发作症状、年龄、脑瘫型别及脑电图特征。结果：共578例（48.24%）患儿伴随发作性症状,其中伴随癫癎发作者231例（19.28%）,非癫癎发作322例（26.88%）。322例伴随非癫癎发作的脑瘫患儿中,发作性症状包括非癫癎性强直发作、发作性摇头、耸肩或头后仰、发作性哭闹、惊恐发作、睡眠肌阵挛、刻板性运动等;158例（49.1%）显示脑电图有非特异性异常;111例（34.5%）在基层医院误诊为癫癎;1岁以内患儿非癫癎发作频率高于1岁~和3~6岁组患儿;痉挛型脑瘫患儿非癫癎发作频率最高（168例,52.2%）,其次为不随意运动型（69例,21.4%）和混合型(65例,20.2%)。结论：脑瘫患儿伴随的发作性症状部分为非癫癎发作,注意与癫癎发作相鉴别。非癫癎发作发生频率与患儿年龄及脑瘫型别有一定关系。［中国当代儿科杂志,2010,12(12)：933-935］     

睡眠中癫癎性电持续状态及其相关综合征

睡眠中癫癎性电持续状态是一种特殊的脑电图表现,可以出现于多种癫癎综合征,伴随癎性发作、神经心理损伤及运动倒退等,早期改善睡眠中癫癎性电持续状态可有效改善患儿预后。现就近几年来国内外对该病诊治方面的相关研究进展进行综述。     

未成熟脑黑质网状系统与癫(癎)性脑损伤

癫(癎)是由多种病因引起的慢性脑功能障碍综合征,其起病与年龄密切相关,尤其好发于未成熟脑组织.长期反复癫(癎)发作可导致未成熟脑组织损伤,使未成熟脑对癫(癎)性脑损伤的易患性增加.脑黑质网状部既有精细的抗痉挛作用,同时又是癫(癎)发作的易损脑区.根据这一特点保护未成熟脑黑质网状部可以预防或减轻癫(癎)发作,同时对癫(癎)性脑损伤的恢复具有重要作用.给予患儿黑质网状部脑保护类药物是治疗癫(癎)性脑损伤的有效方法.     

A case report of Russel's diencephalic cachexia]

The case of an infant admitted for evaluation of severe emaciation with intermittent ocular anomalies including strabismus and nystagmus is reported. This case demonstrates the value of magnetic resonance imaging and transfontanellar ultrasonography for the diagnosis of diencephalic syndrome of infancy. The prognosis of this condition is usually grim, in particular because of the severe emaciation which is disproportionate with the tumour spread. Pathophysiologic hypotheses put forward to explain this cachexia are reviewed. Although cytokines such as TNF alpha are currently incriminated in the pathophysiology of cachexia induced by a number of conditions, they have not yet been studied in diencephalic syndrome of infancy. TNF alpha is a potent lipolytic agent. Excessive production of TNF alpha may be involved in the genesis of the emaciation characteristic of diencephalic syndrome. Inappropriate production of TNF alpha may respond to the administration of specific anti-TNF monoclonal antibodies. This approach may be considered as a means for treating emaciation in patients with diencephalic syndrome of infancy.     

Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome

Dravet syndrome is a rare epileptic encephalopathy linked to mutations in SCN1A (neuronal sodium channel α1 subunit) and characterized by an onset in infancy with polymorphous seizure types and developmental decline. It was reported recently that a proportion of patients previously diagnosed with alleged vaccine encephalopathy might possess SCN1A mutations and clinical histories that enabled a diagnosis of Dravet syndrome, but these results have not been replicated. We present here the cases of 5 children who presented for epilepsy care with presumed parental diagnoses of alleged vaccine encephalopathy caused by pertussis vaccinations in infancy. Their conditions were all rediagnosed years later, with the support of genetic testing, as Dravet syndrome. We hope that these cases will raise awareness of Dravet syndrome among health care providers who care for children and adolescents and aid in earlier recognition and diagnosis.     

Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis

We report two unusual presenting manifestations of Wiskott-Aldrich syndrome (WAS), recurrent acute hemorrhagic edema of infancy (AHEI); a form of cutaneous vasculitis and hyperostosis of the tibia. Though cutaneous vasculitis is known to occur in WAS, presentation in early infancy and as AHEI is extremely uncommon. Hyperostosis is not a well-recognized association in WAS; only three patients with this association have been previously reported. In our patient these two unusual manifestations preceded the onset of recurrent infections. Recognition of this rare presentation led us to an early diagnosis of WAS, associated with p.Glu31Lys mutation in the WAS protein.     

Gastric volvulus in infants and children

Gastric volvulus is a rare surgical emergency; only 108 cases have been reported in infancy and childhood. We report an additional eight cases. One of our patients died preoperatively from complications of gastric gangrene. The different clinical presentations, radiologic findings, anatomy, and surgical procedures are discussed. Knowledge of the clinical and radiologic pictures is a prerequisite for early diagnosis and prompt surgical intervention to avoid possible life-threatening complications.     

Infantile hookworm disease

Hookworm infection is common but has rarely been reported in neonates or infants. Two cases of hookworm infestation in early infancy are described. The infants presented with malena, severe pallor, lethargy and failure to gain weight. Initial stool examination was non-contributory and diagnosis was made by upper gastrointestinal endoscopy.     

Melanotic Neuroectodermal Tumor of Infancy

Melanotic neuroectodermal tumor of infancy is a specific but unusual tumor of infancy for which only sporadic cases have been reported in the literature. This paper presents a case in an infrequent site, the epididymis, and summarizes the literature on the subject.     

Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation

Clinical features associated with the deletion of 22q11.2 are highly variable. Most are diagnosed by cardinal congenital heart disease or hypoparathyroidism. In cases without major features, an early accurate diagnosis of 22q11.2 deletion syndrome is difficult. Congenital anorectal malformations (ARM), which can be detected soon after birth, have been rarely reported in 22q11.2 deletion syndrome. We report two cases of 22q11.2 deletion syndrome with ARM who showed growth retardation. ARM was detected in both patients without congenital heart disease or hypoparathyroidism at early infancy and they were followed by pediatric surgeons. Later, failure to thrive or short stature became evident, and they consulted with pediatric endocrinologists who subsequently confirmed the diagnosis of 22q11.2 deletion by fluorescent in situ hybridization analysis. The combination of ARM and growth retardation may lead to an early diagnosis of 22q11.2 deletion syndrome.     

Melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumor of infancy is a specific but unusual tumor of infancy for which only sporadic cases have been reported in the literature. This paper presents a case in an infrequent site, the epididymis, and summarizes the literature on the subject.     

Tufted angioma

We present a 2-year-old boy with a red, cutaneous-subcutaneous, nodule on the right elbow and a 2.5 year-old girl with an red-brown, indurated plaque on the left knee. Colour-coded doppler sonography of the boy's lesion showed vascular structures. A biopsy established the diagnosis of tufted angioma in both patients. Tufted angioma is clinically characterized by slowly spreading erythematous macules and plaques preferentially located on the upper trunk and neck in children. It is a benign tumor, malignant transformation has not been reported. The case history, clinical and histological findings contribute to the diagnosis. Tufted angioma has to be distinguished from Kaposi's sarcoma, angiosarcoma, hemangioma of infancy, sometimes bacillary angiomatosis and other cutaneous capillary malformations. Treatment of tufted angioma is difficult, various modalities like glucocorticosteroids, Interferon-alpha, flashlamp-pumped pulsed dye laser, excision and spontaneous regression have been described with varying results.     

BCG-septicemia and mucocutaneous candidiasis due to familial combined immunodeficiency (authors transl)]

The history of a patient with mucocutaneous candidiasis and BCG-septicemia is reported. Combined immunodeficiency has been diagnosed as the underlying cause. A sister of the patient died at seven months of age under similar circumstances. The importance of the immunological diagnosis in severe bacterial and mycotic infection during early infancy has been emphasized. In such cases vaccinations with life vaccine are strongly contraindicated.