Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease and an Incidental Thyroid Nodule [0.03%]
髓鞘少突胶质细胞糖蛋白抗体相关疾病并偶然发现的甲状腺结节
C J Henriquez,S F Ahmad
C J Henriquez
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare, immune-mediated demyelinating disease of the central nervous system (CNS) that has a predilection for children. Its association with malignancy or other auto...
Aline Wijnand,Helene Verhelst
Aline Wijnand
Anti-SRY-related HMG-box gene 1 (SOX1) antibodies were initially described in adults with paraneoplastic neurological disorders, where they are considered high-risk onconeural autoantibodies. Only two pediatric cases of anti-SOX1 antibodies...
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment [0.03%]
一个误分类基因组变异的研究历程——偶然发现评估的启示
Omar Zgheib,Andrea Trombetti,André Juillerat et al.
Omar Zgheib et al.
Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, ...
Efficacy of Melatonin for Inducing Sleep in Pediatric Electroencephalogram Recordings: A Single-Blind Randomized Controlled Pilot Study [0.03%]
褪黑素在儿科脑电图记录中诱导睡眠的疗效：一项单盲随机对照试点研究
Kornkamol Holsakul,Sathida Poonmaksatit,Pariyapa Thiamrakij et al.
Kornkamol Holsakul et al.
Objective To compare the efficacy of melatonin, melatonin with sleep deprivation, and chloral hydrate with sleep deprivation on sleep induction in Asian children. Methods: For this randomized single-blind controlled trial, we recruited 45 c...
Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children [0.03%]
CTNNB1基因的两个新的截断突变与神经发育障碍、语言功能障碍和小头畸形有关：全外显子组测序研究
Yongchun Ji,Qin Xia,Hewei Zhang et al.
Yongchun Ji et al.
Recently, the loss-of-function, heterozygous, and de novo mutations of the CTNNB1 gene have been proven to be partially responsible for intellectual disability in some patients. Herein, we report two unrelated children with neurodevelopment...
A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami [0.03%]
阿扎米综合征患儿伴有新报道的免疫缺陷、脑室周围异位和中风特征；扩大了阿扎米征表型范围
Kristin D Fauntleroy-Love,Theodore E Wilson,Nurcicek Padem et al.
Kristin D Fauntleroy-Love et al.
Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dw...
Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus [0.03%]
SLC22A5表型的谱系扩大：以局灶性肌阵挛为表现的原发性肉碱缺乏症
Maymunah Khries,Albert Lim,Dipayan Mitra et al.
Maymunah Khries et al.
Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter. Carnitine is essential for the transport of acyl-CoA, pr...
Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation [0.03%]
PLCB1突变导致的先天性Jeavons综合征
Alexandria L Spurgeon,Shannon F Keaveney,Yu-Tze Ng
Alexandria L Spurgeon
Jeavons syndrome is a common, often misdiagnosed or overlooked epileptic syndrome presenting with a triad of eyelid myoclonia with or without absence seizures, eye closure-induced EEG paroxysms, and photosensitivity. We present a seven-year...
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy [0.03%]
EIF2AK2反复新发变异导致一种先天性髓鞘形成不良型脑白质营养不良症
Julia Macintosh,Isabelle Thiffault,Tomi Pastinen et al.
Julia Macintosh et al.
De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merz...
Progressive Flaccid Paraplegia in a Toddler due to Chiari Type I Malformation Complicated with Hydrocephalus and Syringomyelia. A Case Report [0.03%]
小儿ChiariⅠ畸形并脑积水、脊髓空洞症致进行性双下肢瘫1例报告
Angelina Lo,Megan C LaRocca,Danielle Whalen et al.
Angelina Lo et al.
Chiari malformation is a clinico-radiological entity defined by herniation of rhombencephalic structures through the foramen magnum. The most common type, Chiari I, involves herniation of the cerebellar tonsils specifically. We present the ...