Nondiagnostic Initial Head CT Delays the Diagnosis of Childhood Arterial Ischemic Stroke [0.03%]
初始头颅CT未见异常延迟儿童动脉性脑梗死的诊断
Vivian Chiang,Dwight Barry,Catherine Amlie-Lefond
Vivian Chiang
To investigate the impact of initial neuroimaging on time to diagnosis of childhood stroke, a retrospective review was performed of 130 children who sustained arterial ischemic stroke in the outpatient setting. The median time from symptom ...
Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum [0.03%]
_farber肉芽肿合并脊髓性肌萎缩伴进行性肌阵挛性癫痫：扩展了临床谱系
Lokesh Saini,Pradeep Kumar Gunasekaran,Ashna Kumar et al.
Lokesh Saini et al.
BackgroundFarber lipogranulomatosis with spinal muscular atrophy with progressive myoclonic epilepsy (FL-SMA-PME) is inherited in an autosomal recessive manner because of pathogenic variations in the ASAH1 gene. We report a series of 4 chil...
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant [0.03%]
与新型纯合子MDH2变异相关的急性舞蹈病和儿童多系统炎症综合征(MIS-C)
Kornkanok Saringkarisate,Joshua I Umland,Rodolfo E Bégué et al.
Kornkanok Saringkarisate et al.
A 3-year-old boy with speech delay presented with fever and choreoathetosis, progressing to cardiogenic shock and respiratory failure. He met diagnostic criteria for multisystem inflammatory syndrome in children (MIS-C) and improved with tr...
Evaluating Associations Between Postconcussion Physical Activity and Brain Neurometabolite Concentrations in the Posterior Cingulate Gyrus [0.03%]
评测幕旁回中脑神经代谢物浓度与撞脑后体力活动之间的关系
Ross Moseley,Ved Hatolkar,Mathew J Wingerson et al.
Ross Moseley et al.
ObjectiveTo examine the association between brain neurometabolite concentrations and physical activity (PA) volume after adolescent concussion.MethodsWe performed a longitudinal study of adolescents (13-18 years) with concussion. At an init...
Odette El Ghawi,Praveen Kumar Ramani
Odette El Ghawi
Knowledge in the spectrum of epidermal nevi and epidermal nevus syndrome has been elaborated on and expanded rapidly through the years. In this review, we provide a comprehensive overview of the neurologic manifestations of epidermal nevus ...
Mania in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 Disease): A Rare Neuropsychiatric Presentation in an Adolescent [0.03%]
青少年神经元 ceroid 淀粉样变性病（CLN3疾病）的躁狂发作：一名青少年罕见的神经精神表现
Ekin Sut,Duygu Nur Tutam
Ekin Sut
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease) is a rare autosomal recessive neurodegenerative lysosomal storage disorder characterized by childhood-onset progressive visual loss, epilepsy, and cognitive decline. Although beha...
Insights From Wise Warriors: A Needs Assessment and Preventive Parenting Program Recommendations From Parents of Children With Spinal Muscular Atrophy [0.03%]
脊髓性肌萎缩症患儿家长的需求评估及预防性父母育儿项目建议
Isabella J Andrade,Joanna J Kim
Isabella J Andrade
Spinal muscular atrophy (SMA) is a neuromuscular disease that significantly affects children's motor function, including the ability to breathe and swallow, and was the leading genetic cause of infant death until 2016. SMA affects not only ...
Transition and Transfer From Pediatric to Adult Epilepsy Care: Pilot Evaluation of an Epilepsy Transition Clinic [0.03%]
癫痫从儿童期至成人期的过渡和转诊：癫痫转换门诊的试行评估
Laura Kirkpatrick,Erin Friel,Jasmin Rivero-Guerra et al.
Laura Kirkpatrick et al.
We established an institutional Epilepsy Transition Clinic in 2023. As a pilot evaluation, we compared demographics of clinic patients (2023-2024) with youth with epilepsy seen 2019-2022. We compared the proportion of transition clinic pati...
Diagnostic Accuracy of the Combined Bedside Tests (Icepack and Fatigability) in Diagnosing Juvenile Myasthenia Gravis [0.03%]
冷敷和疲劳性联合床旁试验在儿童重症肌无力诊断中准确性分析
Pechpailin Kortnoi,Jakkrit Amornvit,Tanitnun Paprad
Pechpailin Kortnoi
BackgroundDiagnosing juvenile myasthenia gravis (JMG) can be challenging because of limited access to confirmatory tests.ObjectiveThis study evaluates the validity of bedside tests (the ice pack test, fatigability test, and combined bedside...