Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment [0.03%]
脊髓肌肉萎缩症的功能运动量表在疾病修正治疗时代的应用
Katarzyna Pierzchlewicz,Izabela Kępa,Jacek Podogrodzki et al.
Katarzyna Pierzchlewicz et al.
Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. Infants affected by SMA type 1 do not gain developmental milestones and acutely decline, requiring ventilatory support. Several scales are us...
A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis [0.03%]
产前漏诊的Mowat-Wilson综合征伴孤立正中体发育不全1例报告
Nesrin Şenbil,Zeynep Arslan,Derya Beyza Sayın Kocakap et al.
Nesrin Şenbil et al.
Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung dise...
Downbeat Nystagmus in a 7-Year-Old Girl With Epstein-Barr Virus-Associated Meningitis and Cerebellitis [0.03%]
一例埃伯斯坦-巴病毒性脑炎及小脑炎的7岁女孩中的下行性眼球震颤
Cameron Alexander Wade,David Neil Toupin,Kyle Darpel et al.
Cameron Alexander Wade et al.
Downbeat nystagmus is a type of jerk nystagmus that may be seen in patients with lesions affecting the vestibulocerebellum. This is a case of a 7-year-old girl presenting with a history of fever, headache, and episodic vertigo with downbeat...
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children [0.03%]
儿童高比例母系突变m.8344A＞G引起的莱氏综合征
Sam Nicholas Russo,Amy Goldstein,Amel Karaa et al.
Sam Nicholas Russo et al.
In the field of mitochondrial medicine, correlation of clinical phenotype with mutation heteroplasmy remains an outstanding question with few, if any, clear thresholds corresponding to a given phenotype. The m.8344A>G mutation is most commo...
ERRATUM to "The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency" [0.03%]
“神经诊断在鸟氨酸转氨甲酰酶缺乏症新生儿急性管理中的应用”一文的勘误通知
[This corrects the article DOI: 10.1177/2329048X20985179.]. © The Author(s) 2021.
Published Erratum
Child neurology open. 2021 Feb 19:8:2329048X21998964. DOI:10.1177/2329048X21998964 2021
Infant Stroke Associated With Left Atrial Thrombus and Supraventricular Tachycardia [0.03%]
与左心耳血栓和阵发性室上性心动过速相关的婴儿卒中
Rachel Pauley,Elise L Mercier,Ashutosh Kumar et al.
Rachel Pauley et al.
We report a rare case of cardioembolic stroke in the setting of supraventricular tachycardia (SVT) in an infant. After a week of irritability, a 10-week-old male presented to the emergency department with SVT requiring treatment with adenos...
The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency [0.03%]
神经诊断技术在急性管理琥珀酰磷酸合成酶1缺乏新生儿中的应用
Meaghan McGowan,Carlos Ferreira,Matthew Whitehead et al.
Meaghan McGowan et al.
Neonatal-onset urea cycle disorders (UCDs) may result in hyperammonemic (HA) encephalopathy presenting with several neurologic sequelae including seizures, coma, and death. However, no recommendations are given in how and when neurodiagnost...
Liver Transplantation Reverses Hepatic Myelopathy in 2 Children With Hepatitis A Infection [0.03%]
肝移植可逆转2例甲型肝炎感染儿童的肝性脊髓病
Roshan Koul,Bikrant Bihari Lal,Viniyendra Pamecha et al.
Roshan Koul et al.
Objectives: To report 2 children with acute hepatic myelopathy after hepatitis A infection who recovered completely after living donor liver transplantation. ...
Stefanie Perrier,Sara Matovic,Geneviève Bernard
Stefanie Perrier
Author's Response to "Classifying Hypomyelination: A Critical (white) Matter" From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies [0.03%]
针对Perrier等人关于“将遗传性脑白质病和脑白质异常进行扩展表型定义可鉴定出数百种可能的致病基因”的评论：“将低髓鞘形成分类：一个关键（白色）问题”作者回复
Veronica M Urbik,Marilyn Schmiedel,Haille Soderholm et al.
Veronica M Urbik et al.