Rhythmic mid-Temporal Theta of Drowsiness Activated by Hyperventilation- Uncommon Trigger of a Rare Benign EEG Variant in Pediatrics. An Educational Review [0.03%]
呼气过快诱发的困倦期节奏中颞θ波——儿科罕见良性EEG变异的一个不常见触发因素。一篇教育性综述
Brooke Asemota,Jacob M Dohmeier,Nupur Singh et al.
Brooke Asemota et al.
Distinguishing abnormal electroencephalogram (EEG) waveforms from benign variants is critical for accurate interpretation of EEG. Hyperventilation (HV) is one of the basic procedures during EEG to enable activation of epileptiform activity....
Capsular Warning Syndrome Leading to Acute Ischemic Stroke in a Pediatric Patient Secondary to Varicella Zoster Virus [0.03%]
带状疱疹病毒导致儿科患者急性缺血性中风的包膜警告综合征
Min Ye Shen,Arezou Heshmati
Min Ye Shen
We report the case of a 3-year-old boy who presented with recurrent stereotyped transient episodes of left sided weakness consistent with capsular warning syndrome (CWS) which eventually progressed to acute ischemic stroke (AIS). He receive...
Mekka R Garcia,Lena Bell,Claire Miller et al.
Mekka R Garcia et al.
The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade gli...
A Favorable Treatment Outcome in RANBP2 and Influenza Associated Acute Necrotizing Encephalitis [0.03%]
RANBP2和流感相关急性坏死性脑炎的有利治疗结果
Fernando Galan,Douglas R Nordli,Milad Yazdani et al.
Fernando Galan et al.
In current literature, there is uncertainty in the pathophysiology and management of influenza-associated Acute Necrotizing Encephalitis. Because of this and the rarity of the disease, no clear treatment guidelines exist. It is thought that...
Sarah Mingels,Marita Granitzer
Sarah Mingels
Background: Although headache is common in pediatrics, data for the Flemish population are missing. We explored headache-prevalence, and its association with communication-technology (CT) and physical activity (PA) in Flemish children and a...
The Case of the Rare Malformation and Rare Variant: An Infant with a Self-Embolized Torcular Dural Sinus Malformation and a Concomitant Prothrombin Variant [0.03%]
罕见畸形和罕见变异的病例：一个患有自体栓塞托克拉窦静脉畸形并伴有凝血酶原变异的婴儿
Roxanne M Miller,Anthony Zarka,Samiya F Ahmad
Roxanne M Miller
Torcular dural sinus malformations (tDSMs) can occur in the brain during prenatal development. These rare vascular malformations occur in less than 1% of the population but can lead to a poor prognosis secondary to congestive heart failure ...
Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene [0.03%]
由于DYSF基因新型剪切位点变异导致的 Miyoshi型肌营养不良症
Grace Bryant,Steven A Moore,James S Nix et al.
Grace Bryant et al.
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), ...
Jay Lodhia,Hilary Chipongo,Adnan Sadiq et al.
Jay Lodhia et al.
Pediatric stroke is uncommon. A traumatic cause of pediatric ischemic stroke is even rarer. Ischemic stroke due to intraluminal thrombus can be acutely treated with thrombolysis but various factors in sub-Saharan Africa make this unfeasible...
Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease [0.03%]
斯里兰卡婴儿型sandhoff病患者的临床表现和基因异质性，包括两种新型变异体
Siddiqa Ozaal,Subashinie Jayasena,Surani Jayakody et al.
Siddiqa Ozaal et al.
Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of...
Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings [0.03%]
SON基因中新生杂合变异导致ZTTK综合症：两例患者报告及神经学表现综述
Maya Eid,Sonal Bhatia
Maya Eid
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a newly described autosomal dominant multisystem developmental disorder resulting from a mutation of the SON gene located on chromosome region 21q22.11. It is characterized by heterogeneous featu...