Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of Refractory Seizures: Case Report [0.03%]
新生儿TSC1新型突变导致难治性癫痫通过局灶皮质发育不良的手术切除而缓解：病例报告
Emily Garavatti,Erin Yamamoto,Kelly Collins et al.
Emily Garavatti et al.
We describe a neonate presenting on first day of life with refractory seizures secondary to a single, large area of focal cortical dysplasia (FCD) who underwent surgical resection at age 3 weeks leading to resolution of seizure activity and...
Iris Heterochromia in Acquired Horner Syndrome Following Surgical Excision of Parapharyngeal Neuroblastoma [0.03%]
颈咽部神经母细胞瘤手术后获得性霍纳综合征的虹膜异色症
Sarah E Eppley,Azam Qureshi
Sarah E Eppley
This report describes an infant who developed iris heterochromia 2 years after presenting at age 2 months with acquired Horner syndrome following excision of a parapharyngeal neuroblastoma. Iris heterochromia is classically associated with ...
A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome [0.03%]
CHRNE基因纯合变异导致先天性重症肌无力兄妹两例
Cassie Chan,Lucy Emery,Caroline Maltese et al.
Cassie Chan et al.
Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel...
GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management [0.03%]
儿科人群中的古氨酰胺合成酶缺乏症：临床和分子特征及管理方法
Majdah A Almaghrabi,Osama Y Muthaffar,Sereen A Alahmadi et al.
Majdah A Almaghrabi et al.
Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome seq...
Residency Training: A Practical Guide for Medical Students who are Planning a Future in Child Neurology [0.03%]
儿科神经病学住院医师培训指南——有志于从事儿童神经病学学生的实用手册
Megan Gupta,Douglas R Nordli rd,Moon Hee Hur et al.
Megan Gupta et al.
At the time of graduation from medical school, medical students have been exposed primarily to adult neurology and have limited exposure to child neurology. Child neurology is a unique field that encompasses caring for children with neurolo...
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis [0.03%]
以新型ISCA2变异为特征的四型线粒体功能障碍综合征1例，类似感染后脑炎
Hyungjin Chin,Jaeso Cho,Woo Joong Kim et al.
Hyungjin Chin et al.
ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy ...
Syed Abdullah Monawwer,Sajjad Ali,Raahim Naeem et al.
Syed Abdullah Monawwer et al.
Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve pa...
Limbic Encephalitis Associated with Human Herpesvirus-7 Infection in an Immunocompetent Adolescent [0.03%]
一名免疫功能正常的青少年出现与人类疱疹病毒-7感染相关的边缘叶脑炎病例报告
Megan Lynch,Matthew Nedjat-Haiem,Kylie Abeson et al.
Megan Lynch et al.
Despite the ubiquitous nature of human herpesvirus-7 (HHV-7) infection, its clinical significance in the central nervous system (CNS) is poorly understood. However, the related human herpesvirus-6 (HHV-6), which has remarkable genomic simil...
Epilepsia Partialis Continua that Improved in a Pediatric Patient with Sub-dural Empyema [0.03%]
一名患有硬膜下脓肿的儿科患者的局灶性连续性部分发作性癫痫改善病例报告
J Schall,S Ahmad,S Avula
J Schall
In epilepsia partialis continua (EPC), the EEG tracings may fail to show epileptiform activity because the electrical activity is too subtle or too deep to be picked up by surface electrodes. EPC can occur at any age and may have many etiol...
The RITA-T (Rapid Interactive Screening Test for Autism in Toddlers) Community Model to Improve Access and Early Identification of Autism in Young Children [0.03%]
RITA-T（ toddler 自闭症快速互动筛查测试）社区模型，改善幼儿自闭症的早期识别与治疗状况
Roula Choueiri,William T Garrison,Valerie Tokatli et al.
Roula Choueiri et al.
Objective: To evaluate improved identification and the generalization of the RITA-T (Rapid interactive Screening Test for Autism in Toddlers) model through partnerships with Primary Care (PC), Early Intervention (EI), and Autism Diagnostici...