Child neurology open最新文献_第2页

Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of Refractory Seizures: Case Report. 手术切除患有新型 TSC1 基因突变的新生儿的局灶性皮质发育不良，从而缓解难治性癫痫发作：病例报告。

Child neurology open Pub Date : 2023-12-11 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231219223

Emily Garavatti, Erin Yamamoto, Kelly Collins, Nathan Selden, Ittai Bushlin

引用次数: 0

Iris Heterochromia in Acquired Horner Syndrome Following Surgical Excision of Parapharyngeal Neuroblastoma. 咽旁神经母细胞瘤手术切除后获得性霍纳综合征的虹膜异色症。

Child neurology open Pub Date : 2023-12-07 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231219205

Sarah E Eppley, Azam Qureshi

引用次数: 0

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome. 先天性肌无力综合征2个兄弟姐妹CHRNE基因的新纯合变异。

Child neurology open Pub Date : 2023-11-28 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231216432

Cassie Chan, Lucy Emery, Caroline Maltese, Ashutosh Kumar, Ermal Aliu, Sunil Naik, Dustin Paul

{"title":"A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.","authors":"Cassie Chan, Lucy Emery, Caroline Maltese, Ashutosh Kumar, Ermal Aliu, Sunil Naik, Dustin Paul","doi":"10.1177/2329048X231216432","DOIUrl":"10.1177/2329048X231216432","url":null,"abstract":"Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsilon subunit causing primary acetylcholine-receptor deficiency in two siblings. Two siblings presented with fatigable weakness. Both siblings had whole exome sequencing showing a homozygous variant (c.322C > T, p.Pro108Ser) of unknown significance in the epsilon subunit. Electromyography/nerve conduction study with repetitive nerve stimulation on one sibling showed a defect in neuromuscular junction transmission. Pseudoephedrine and fluoxetine for suspected slow-channel congenital myasthenic syndrome yielded no improvement. A trial of pyridostigmine led to clinical improvement. Given the clinical presentation, consanguinity, homozygous genetic variant, and response to pyridostigmine, we rationalize the homozygous variant (c.322C > T, p.Pro108Ser) in cholinergic receptor nicotinic epsilon subunit causes the primary acetylcholine-receptor deficiency congenital myasthenic syndrome.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231216432"},"PeriodicalIF":0.0,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management. 儿童人群中GAMT缺乏:临床和分子特征及管理。

Child neurology open Pub Date : 2023-11-15 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231215630

Majdah A Almaghrabi, Osama Y Muthaffar, Sereen A Alahmadi, Mashael A Abdulsbhan, Mashael Bamusa, Maram Ahmed Aljezani, Sarah Y Bahowarth, Anas S Alyazidi, Waheeb S Aggad

{"title":"GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.","authors":"Majdah A Almaghrabi, Osama Y Muthaffar, Sereen A Alahmadi, Mashael A Abdulsbhan, Mashael Bamusa, Maram Ahmed Aljezani, Sarah Y Bahowarth, Anas S Alyazidi, Waheeb S Aggad","doi":"10.1177/2329048X231215630","DOIUrl":"10.1177/2329048X231215630","url":null,"abstract":"Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the form of line charts and illustrated graphs. Results: The mean current age of was 117 months (±29.03) (range 12-372 months). The mean age of disease onset was 28.32 months (±13.68) (range 8 days - 252 months). The most prevalent symptom was developmental delays, mainly speech and motor, seizures, and intellectual disability. The male-to-female ratio was 3:1. Multiple treatments were used, with 54 pharmacological interventions, valproic acid being the most common. Creatinine monohydrate was the prevalent dietary intervention, with 25 patients reporting an improvement. Conclusion: The study suggests that efficient treatment with appropriate dietary intervention can improve patients' health, stressing that personalized treatment programs are essential in managing this disorder.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231215630"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis. 一例具有新型ISCA2变体的多线粒体功能障碍综合征4，模拟感染后脑炎。

Child neurology open Pub Date : 2023-10-30 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231210421

Hyungjin Chin, Jaeso Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae

{"title":"A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis.","authors":"Hyungjin Chin, Jaeso Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae","doi":"10.1177/2329048X231210421","DOIUrl":"https://doi.org/10.1177/2329048X231210421","url":null,"abstract":"ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephalitis. The patient had displayed normal development until 12 months of age. At 13 months of age, one month after experiencing a post-vaccination fever, she quickly progressed to being unable to sit unassisted nor speak any words. Analysis of the cerebrospinal fluid (CSF) revealed lympho-dominant pleocytosis. Amino acid analysis of both the serum and CSF demonstrated elevated glycine exclusively in the CSF. Diffuse leukodystrophy was noted in the brain magnetic resonance image. Whole exome sequencing revealed compound heterozygous ISCA2 variants of c.166T>G, p.C56G and c.422A>C, p.Q141P. No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases of early onset rapid developmental regression with leukodystrophy, MMDS4 should be considered.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231210421"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Residency Training: A Practical Guide for Medical Students who are Planning a Future in Child Neurology. 住院培训：为正在规划儿童神经病学未来的医学生提供的实用指南。

Child neurology open Pub Date : 2023-10-30 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231210620

Megan Gupta, Douglas R Nordli, Moon Hee Hur, Chalongchai Phitsanuwong, Raj Sheth, Fernando Galan

引用次数: 0

Moebius Syndrome: An Updated Review of Literature. 莫比乌斯综合征：文献综述。

Child neurology open Pub Date : 2023-10-18 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231205405

Syed Abdullah Monawwer, Sajjad Ali, Raahim Naeem, Syed Hasan Ali, Azkah Rabbani, Maria Khan, Saba Saleem Qazi, Syed Muhammad Ismail Shah, Sabeeh Khawar Farooqui

{"title":"Moebius Syndrome: An Updated Review of Literature.","authors":"Syed Abdullah Monawwer, Sajjad Ali, Raahim Naeem, Syed Hasan Ali, Azkah Rabbani, Maria Khan, Saba Saleem Qazi, Syed Muhammad Ismail Shah, Sabeeh Khawar Farooqui","doi":"10.1177/2329048X231205405","DOIUrl":"10.1177/2329048X231205405","url":null,"abstract":"Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231205405"},"PeriodicalIF":0.0,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e4/f2/10.1177_2329048X231205405.PMC10588417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49694795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Limbic Encephalitis Associated with Human Herpesvirus-7 Infection in an Immunocompetent Adolescent. 一名具有免疫能力的青少年患上与人类疱疹病毒7型感染相关的四肢脑炎。

Child neurology open Pub Date : 2023-10-10 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231206935

Megan Lynch, Matthew Nedjat-Haiem, Kylie Abeson, Celia Chang

{"title":"Limbic Encephalitis Associated with Human Herpesvirus-7 Infection in an Immunocompetent Adolescent.","authors":"Megan Lynch, Matthew Nedjat-Haiem, Kylie Abeson, Celia Chang","doi":"10.1177/2329048X231206935","DOIUrl":"10.1177/2329048X231206935","url":null,"abstract":"Despite the ubiquitous nature of human herpesvirus-7 (HHV-7) infection, its clinical significance in the central nervous system (CNS) is poorly understood. However, the related human herpesvirus-6 (HHV-6), which has remarkable genomic similarity to HHV-7, is linked to encephalitis. We present the case of a 17-year-old immunocompetent male with remote history of seizure who arrived in status epilepticus. Upon resolution, he required hospitalization for worsening encephalopathy. Electroencephalogram (EEG) revealed bilateral temporal lobe dysfunction and magnetic resonance imaging (MRI) showed increased signaling in bilateral medial temporal lobes with hippocampal microhemorrhages. Empiric intravenous (IV) acyclovir was initiated despite initially negative cerebrospinal fluid (CSF) studies due to concern for herpes simplex virus (HSV) encephalitis. The patient improved and was discharged on hospital day 13 (HD13). After discharge, a human metagenomics CSF panel resulted positive only for HHV-7, making a case for possible etiology and empiric treatment of HHV-7 despite delayed CSF and serum studies.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231206935"},"PeriodicalIF":0.0,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8c/ed/10.1177_2329048X231206935.PMC10566268.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41221786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epilepsia Partialis Continua that Improved in a Pediatric Patient with Sub-dural Empyema. 一例儿童硬膜下积脓患者的侧癫痫持续改善。

Child neurology open Pub Date : 2023-10-04 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231205416

J Schall, S Ahmad, S Avula

引用次数: 0

The RITA-T (Rapid Interactive Screening Test for Autism in Toddlers) Community Model to Improve Access and Early Identification of Autism in Young Children. RITA-T（幼儿自闭症快速互动筛查测试）社区模式，以改善幼儿自闭症的获取和早期识别。

Child neurology open Pub Date : 2023-09-28 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231203817

Roula Choueiri, William T Garrison, Valerie Tokatli, Naaz Daneshvar, Jillian Belgrad, Guangyu Zhu, Bo Zhang

{"title":"The RITA-T (Rapid Interactive Screening Test for Autism in Toddlers) Community Model to Improve Access and Early Identification of Autism in Young Children.","authors":"Roula Choueiri, William T Garrison, Valerie Tokatli, Naaz Daneshvar, Jillian Belgrad, Guangyu Zhu, Bo Zhang","doi":"10.1177/2329048X231203817","DOIUrl":"10.1177/2329048X231203817","url":null,"abstract":"Objective: To evaluate improved identification and the generalization of the RITA-T (Rapid interactive Screening Test for Autism in Toddlers) model through partnerships with Primary Care (PC), Early Intervention (EI), and Autism Diagnosticians. Methods: Over 3 years (2018-2021), 15 EI and 9 PC (MD and NP) centers participated in this project. We trained providers on the RITA-T and established screening models. We reviewed charts of all toddlers referred through this model and compared wait times, and diagnoses, to those evaluated through regular referral in a tertiary-based autism clinic. We also examined the RITA-T psychometrics. Results: 377 toddlers met our inclusion criteria. Wait time for diagnosis was an average of 2.8 months and led to further collaboration between community providers. RITA-T cut-off scores stayed consistent. Providers reported improved confidence and easy integration of this model. Conclusions: This model is generalizable and improves the Early Identification of ASD.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231203817"},"PeriodicalIF":0.0,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/55/d5/10.1177_2329048X231203817.PMC10540582.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41175228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0