Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review [0.03%]
极早期青少年亨廷顿舞蹈病患者的诊断延迟：一例报告及文献回顾
Ashley A Moeller,Marcia V Felker,Jennifer A Brault et al.
Ashley A Moeller et al.
Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can ha...
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing [0.03%]
凋失整个外显子组测序的诊断：错过的双体蛋白折叠辅因子D缺乏症
Christina M Quitmann,Stephan Rust,Janine Reunert et al.
Christina M Quitmann et al.
Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic d...
To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler [0.03%]
要么是B2，要么不是B2：一个 toddler 喉鸣和虚弱的罕见原因
Aliya L Frederick,Jennifer H Yang,Sarah Schneider et al.
Aliya L Frederick et al.
We present a case of a young child with a rare metabolic disorder whose clinical presentation resembled that of autoimmune myasthenia gravis. The differential diagnosis was expanded when autoantibody testing was negative and the patient did...
Ana Melikishvili,Bijal Patel,Daphne M Hasbani et al.
Ana Melikishvili et al.
Neurologic complications secondary to heroin abuse in the adult population have been widely described in the literature. With the recent opioid epidemic and increasing rates of heroin abuse in adolescents, pediatricians are now encountering...
Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation [0.03%]
RANBP2基因突变引起的急性坏死性脑病2例报告
Molly Hartley,Anjana Sinha,Ashutosh Kumar et al.
Molly Hartley et al.
Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which...
The Guiding Star: The Journey of an International Physician From Maternal Fetal Medicine to Fetal Neonatal Neurology [0.03%]
引领之星：一位国际医生从围产医学到胎儿新生儿神经学的旅程
Sonika Agarwal
Sonika Agarwal
My path to the American dream took me from maternal fetal medicine in India to fetal and neonatal neurology in the United States, a journey spanning 2 continents, 3 countries, 3 healthcare systems, 4 rounds of the residency match process, 2...
Christine M Foley,Christopher Ryan,Stacey Tarrant et al.
Christine M Foley et al.
Ketogenic diets provide a non-pharmaceutical alternative for treatment of refractory epilepsy. When successful in reducing or eliminating seizures, medication numbers or doses may be reduced. Unexpected loss of ketosis is a common problem i...
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report [0.03%]
DCNY1H1基因新发突变导致双生子原发性下肢脊髓肌肉萎缩症：病例报告
Alexa Derksen,Amytice Mirchi,Luan T Tran et al.
Alexa Derksen et al.
Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in...
How Providers in Child Neurology Transitioned to Telehealth During COVID-19 Pandemic [0.03%]
儿科神经病学供应商如何在COVID-19大流行期间过渡到远程医疗
Jennifer M Bain,Codi-Ann Dyer,Megan Galvin et al.
Jennifer M Bain et al.
To understand child neurology care practices in telehealth (TH), we conducted an online survey interested in identifying which patients should be triaged for in-person evaluations in lieu of telehealth management. We also sought to identify...
Report of a Child With Febrile Status Epilepticus and Post-COVID Multi-System Inflammatory Syndrome [0.03%]
发热性癫痫持续状态伴新冠肺炎后多系统炎症综合征患儿1例报告
Holly C Appleberry,Alexis Begezda,Helen Cheung et al.
Holly C Appleberry et al.
Multi-system Inflammatory Syndrome in Children (MIS-C) is a post infectious inflammatory syndrome following COVID infection. Previous case series have demonstrated that CNS involvement is less common and presents heterogeneously. The follow...