child neurology

儿童神经病学
  • 文章类型: Review
    目的:本研究旨在评估伊斯坦布尔三级神经肌肉中心142名患者的肌萎缩蛋白病中癫痫的患病率和特征。土耳其。
    方法:我们记录了癫痫发作时的年龄,癫痫发作类型,家族史,高热惊厥史,治疗,和脑电图结果。癫痫根据最新的国际抗癫痫联盟(ILAE)分类进行分类。
    结果:在142例DMD患者中,8例癫痫发作(5.6%)。患者的中位年龄为11岁(8.0-15.2)。首次出现DMD症状的中位年龄为24个月(16.5-37.5)。所有癫痫发作均与全身性强直-阵挛性癫痫发作一致。三名患者目前正在服用抗癫痫药物。
    结论:我们的研究中癫痫的患病率(5.6%)超过了普通儿科人群(0.5-1%)。然而,肌营养不良症患儿的高热惊厥频率与一般人群相似。
    OBJECTIVE: This study aimed to assess the prevalence and characteristics of epilepsy in dystrophinopathies within a cohort of 142 patients at a tertiary neuromuscular center in Istanbul, Turkey.
    METHODS: We recorded the age at seizure onset, seizure type, family history, history of febrile seizures, treatment, and EEG results. Epilepsy was classified according to the latest International League Against Epilepsy (ILAE) classification.
    RESULTS: Of the 142 DMD patients, 8 experienced epileptic seizures (5.6 %). The median age of the patients was 11 years (8.0-15.2). The median age for the first DMD symptoms was 24 months (16.5-37.5). All seizures were consistent with generalized tonic-clonic seizures. Three patients are currently on anti-seizure medication.
    CONCLUSIONS: The prevalence of epilepsy in our study (5.6 %) exceeds that of the general pediatric population (0.5-1 %). However, the frequency of febrile seizures in children with dystrophinopathy is similar to that of the general population.
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  • 文章类型: Journal Article
    急性弛缓性脊髓炎(AFM)是一种罕见的神经系统疾病,于2014年首次引起全国关注。这种神经系统疾病每两年出现一次,每隔一年甚至是高峰年。大多数患者在前驱感染后5天出现在儿童期。患者通常在夏季或秋季出现肌肉无力和低反射或反射不足。临床结果是可变的,但是大多数患者没有改善。目前没有明确的预后因素或病因。然而,据认为肠道病毒-D68(EV-D68)可能是AFM病理生物学中的潜在成分。治疗选择有限,有可变的选择,没有共识。迄今为止,支持性疗法已被证明是最有效的。通过我们对文献的回顾,我们强调最近越来越多的证据表明EV-D68和AFM之间可能存在关系.此外,我们确定了AFM与治疗和预后因素的知识差距。
    Acute flaccid myelitis (AFM) is a rare neurological disorder that first rose to national attention in 2014. This neurological disorder has a biennial presentation with every other even year being a peak year. Most patients present in childhood 5 days after a prodromal infection. Patients usually present with muscle weakness and hypo or areflexia in the summer or fall months. Clinical outcomes are variable however most patients do not improve. Currently there are no definitive prognostic factors or etiologies found. However, it is thought that enterovirus-D68 (EV-D68) could be a potential component in the pathobiology of AFM. Treatment options are limited with variable options and no consensus. Supportive therapy has been shown to be the most effective thus far. With our review of the literature, we highlight the recent growing evidence of a possible relationship between EV-D68 and AFM. Additionally, we identify the knowledge gaps in AFM with treatment and prognostic factors.
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  • 文章类型: Journal Article
    Since the middle of the nineteenth century, there has been increasing knowledge about the diagnosis and therapy of diseases of the central and peripheral nervous system and muscle in children. The leading causes were cerebral palsy, epilepsy, inflammatory and degenerative diseases, and the innate reduction in intelligence. Because of the often lack of healing options, many pediatricians had little interest in treating these children and left their care to the pedagogues and psychologists. Pioneers of child neurology in the German-speaking countries were Ludwig Mauthner, Franz von Rinecker, Julius Zappert, and Georg Peritz. Especially with the beginning of the National Socialist terror regime, rigorous treatment methods were used, the care facilities for disabled children were closed, and these were either actively murdered or interned under inhumane conditions. In this time, some specialists in neuropediatrics had an ambivalent position between the care for their patients and the selection for their elimination. After 1950, new findings in diagnostics and therapy, especially from Anglo-American countries, played a significant role in the rise of neuropediatrics in Germany.
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  • 文章类型: Journal Article
    Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. It is usually lethal in males, but females survive because of X-inactivation mosaicism. The disorder is typically identified by unique skin findings, a series of four stages that emerge throughout the first year of life. The central nervous system manifestations in the eye and in the brain cause the most disability. Defects of hair, nails, and teeth occur, and there can be other systemic involvement. Surveillance protocols for medical management have been established by the Incontinentia Pigmenti International Foundation. This article will summarize the existing knowledge of this condition and detail the protocols to help manage the care of the infant or child who presents with incontinentia pigmenti.
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