A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention [0.03%]
一个7岁男童肌阵挛失神癫痫的病例：及时诊治需重视发作症状学、遗传病因及脑电图相关性
Ingrid Frydson,Sreenivas Avula,Samiya Fatima Ahmad
Ingrid Frydson
Epilepsy with myoclonic absence (EMA) is a rare disorder with a mean age of onset of 7 years. It is characterized clinically by rhythmic, myoclonic jerking of the head, extremities or both, with impairment of consciousness and an ictal elec...
Neonatal Aneurysm Rupture in a Child with a De Novo Variant to ANKRD17 [0.03%]
ANKRD17新生变异导致的儿童动脉瘤破裂并累及新生儿期的症状表现
Rebecca Silverstein,Michael Kuwabara,Brian Appavu
Rebecca Silverstein
Ankyrin repeat domain 17 (ANKRD17) is postulated to play a role in the integrity of blood vessels and has been reported to be associated with developmental delays, epilepsy, and growth restriction. Whereas ANKRD17-deficient mice have been d...
A Retrospective Cohort Study of Combined Therapy in West Syndrome associated with Trisomy 21 [0.03%]
21三体综合征合并婴儿痉挛症联合治疗的回顾性队列研究
Luciana de Paula Souza,Beatriz Bagatin Bermudez,Danielle Caldas Bufara et al.
Luciana de Paula Souza et al.
Background: West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic ...
Spontaneous Resolution of Drug-Resistant Epilepsy in Patients with Sturge-Weber Syndrome [0.03%]
药物抵抗性癫痫在斯特奇·韦伯综合征患者中的自愈现象研究
Abdulla Alawadhi,Chantal Poulin
Abdulla Alawadhi
Introduction: Sturge-Weber syndrome (SWS) is often associated with drug resistant epilepsy. The literature is unclear as to how often these patients can be weaned off of antiepileptic drugs (AEDs) to become seizure-free. Case Description: W...
Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years' Experience [0.03%]
神经纤维瘤病I型儿童的癫痫及脑电图特点——一个三级医疗中心5年的随访经验总结
Abdulhafeez M Khair,Stephen Falchek,Rahul Nikam et al.
Abdulhafeez M Khair et al.
Introduction: Neurofibromatosis type 1(NF-1) is the commonest neurocutaneous phacomatosis in children. Epilepsy is an infrequent comorbidity. Reports of seizure and Electroencephalogram (EEG) characteristics in children are sparse. Methods:...
A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments [0.03%]
电生理和未来治疗方法的新进展及拉福拉病的新突变体报告
Douglas R Nordli,Chethan K Rao,Antonio V Delgado-Escueta et al.
Douglas R Nordli et al.
Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed. ...
Cefepime-Induced Nonconvulsive Status Epilepticus in a Pediatric Patient with Normal Renal Function [0.03%]
肾功能正常的儿童患者在接受培高利特治疗时出现非惊厥性持续状态
Clever Nguyen,Taylor Clegg,Ashutosh Kumar et al.
Clever Nguyen et al.
Introduction: Cefepime, a fourth-generation cephalosporin, is known to risk the induction of neurotoxic impairment from confusion to nonconvulsive status epilepticus (NCSE). Neurotoxic effects of cefepime are most commonly evident in the se...
Acute Bulbar Palsy-Plus Variant of Guillain-Barré Syndrome in a 3-Year-Old Girl [0.03%]
女孩急性的球麻痹型吉兰-巴雷综合征变异型病毒感染病例报告
Saihari S Dukkipati,Daniel J Zhou,Andria M Powers et al.
Saihari S Dukkipati et al.
We present a case of a 3-year-old girl who rapidly developed bilateral facial palsy, dysphagia, dysphonia, areflexia, and ataxia soon after receiving an influenza vaccine. Brain and spine Magnetic resonance imaging (MRI) scans with and with...
A Neonatal Case of Mild Encephalopathy/Encephalitis with a Reversible Splenial Lesion [0.03%]
轻度脑病/脑炎伴可逆性中间帆病变的新生儿病例
Yuzuki Oki,Tomohide Yoshida,Akira Yogi et al.
Yuzuki Oki et al.
The neurological symptoms of pediatric mild encephalopathy/encephalitis with a reversible splenial lesion (MERS) are mild and have a good prognosis. However, some aspects of neonatal MERS are unclear due to a lack of clinical knowledge. We ...
Miao Guo,Yucai Chen,Longlong Lin et al.
Miao Guo et al.
Background: Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series...