Child neurology open最新文献_第9页

A Novel Case of Idiopathic MGluR1 Encephalitis in a Pediatric Patient 小儿特发性MGluR1脑炎一例新病例

Child neurology open Pub Date : 2022-01-01 DOI: 10.1177/2329048X221095695

E. Chandler, Nicole Arvantis, B. Morgan

引用次数: 2

Acute Cerebellar Ataxia Associated with COVID-19 Infection in a 5-Year-Old Boy. 1例5岁男孩与COVID-19感染相关的急性小脑性共济失调

Child neurology open Pub Date : 2021-12-16 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211066755

Kimberly A O'Neill, Aparna Polavarapu

引用次数: 7

Utility and Safety of Perampanel in Pediatric FIRES and Other Drug-Resistant Epilepsies. Perampanel在小儿FIRES和其他耐药癫痫中的效用和安全性。

Child neurology open Pub Date : 2021-11-20 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211055335

Guo Yong Lim, Chun Liang Chen, Derrick Chan Wei Shih

{"title":"Utility and Safety of Perampanel in Pediatric FIRES and Other Drug-Resistant Epilepsies.","authors":"Guo Yong Lim, Chun Liang Chen, Derrick Chan Wei Shih","doi":"10.1177/2329048X211055335","DOIUrl":"https://doi.org/10.1177/2329048X211055335","url":null,"abstract":"Perampanel is a novel antiepileptic drug, which antagonises AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) glutamate receptor. We describe perampanel as an adjunctive treatment for FIRES (febrile infection-related epilepsy syndrome) and other drug-resistant epilepsies. A single-centre, observational, retrospective study involving 20 pediatric patients was conducted. Perampanel was started for three patients with FIRES, achieving seizure cessation in two patients within a day and on days 19 and 32 of illness. Doses used ranged from 4 to 12 mg/day, without any adverse effects reported or discontinuation of therapy. Responder-rate for other drug-resistant epilepsies is 25%. Median time to achieve ≥50% seizure reduction was 80 days (range: 26-326 days). Adverse effect reported in 47% of the patients includes central nervous system-related, and thrombocytopenia. Eight patients discontinued perampanel, because of ineffectiveness or adverse effects. The median time on perampanel before discontinuation was 179 days (range: 94-345 days). Perampanel may be of benefit in pediatrics FIRES and is of utility in other drug-resistant epilepsies.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211055335"},"PeriodicalIF":0.0,"publicationDate":"2021-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4a/53/10.1177_2329048X211055335.PMC8606971.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39768763","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: 5

Orthostatic Headaches Associated With Spontaneous Intracranial Hypotension and Autonomic Dysfunction-A Case Series in Young Patients. 直立性头痛与自发性颅内低血压和自主神经功能障碍相关——年轻患者的病例系列。

Child neurology open Pub Date : 2021-11-19 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211056709

Ankita Ghosh, Yen X Tran, Leon Grant, Mohammed T Numan, Rajan Patel, Ian J Butler

{"title":"Orthostatic Headaches Associated With Spontaneous Intracranial Hypotension and Autonomic Dysfunction-A Case Series in Young Patients.","authors":"Ankita Ghosh, Yen X Tran, Leon Grant, Mohammed T Numan, Rajan Patel, Ian J Butler","doi":"10.1177/2329048X211056709","DOIUrl":"https://doi.org/10.1177/2329048X211056709","url":null,"abstract":"Background: Orthostatic headaches can be noted in spontaneous intracranial hypotension and orthostatic intolerance. We present a case series of young patients diagnosed with spontaneous intracranial hypotension and were treated for the same but subsequently developed orthostatic intolerance. Methods: We retrospectively reviewed charts for seven young patients with orthostatic headaches related to spontaneous intracranial hypotension and orthostatic intolerance. Results: Patients were diagnosed with spontaneous intracranial hypotension. Diagnosis was confirmed by identifying epidural contrast leakage and three of seven patients were noted to have early renal contrast excretion on computerized tomography myelography. Patients were treated with epidural blood patches. All patients showed persistent symptoms of autonomic dysfunction after treatment of spontaneous intracranial hypotension and orthostatic intolerance was confirmed with head-up tilt table test. Conclusions: Patients with spontaneous intracranial hypotension failing to improve following epidural blood patching should be evaluated for orthostatic intolerance.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211056709"},"PeriodicalIF":0.0,"publicationDate":"2021-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b1/eb/10.1177_2329048X211056709.PMC8619734.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39673830","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: 1

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings. 皮特霍普金斯样综合征1与新的CNTNAP2突变的兄弟姐妹。

Child neurology open Pub Date : 2021-11-10 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211055330

Rea Mittal, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, Ermal Aliu

{"title":"Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.","authors":"Rea Mittal, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, Ermal Aliu","doi":"10.1177/2329048X211055330","DOIUrl":"https://doi.org/10.1177/2329048X211055330","url":null,"abstract":"Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis revealed biallelic pathogenic variants of the CNTNAP2 gene. Proband has a three year old sister who has who has a similar phenotype including, developmental delay, epilepsy, gait abnormality, refractory errors, strabismus. Family variants were tested and she shared the same CNTNAP2 variants as her sister. The sisters described highlight two novel variants leading to PTHLS1. Genetic workup is essential in identification and management guidance in these populations.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211055330"},"PeriodicalIF":0.0,"publicationDate":"2021-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/70/98/10.1177_2329048X211055330.PMC8586170.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39713181","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: 5

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series. ATP1A3相关疾病的扩展表型:一个病例系列。

Child neurology open Pub Date : 2021-11-03 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211048068

Jelena De Vrieze, Ingrid M B H van de Laar, Johanneke F de Rijk-van Andel, Erik-Jan Kamsteeg, Irene A W Kotsopoulos, Stella A de Man

{"title":"Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.","authors":"Jelena De Vrieze, Ingrid M B H van de Laar, Johanneke F de Rijk-van Andel, Erik-Jan Kamsteeg, Irene A W Kotsopoulos, Stella A de Man","doi":"10.1177/2329048X211048068","DOIUrl":"https://doi.org/10.1177/2329048X211048068","url":null,"abstract":"Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100 V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211048068"},"PeriodicalIF":0.0,"publicationDate":"2021-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/62/f1/10.1177_2329048X211048068.PMC8573619.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39609782","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: 1

Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam. 高剂量吡拉西坦改善独特的严重高呼气综合征样呼吸暂停事件(SHELAE)。

Child neurology open Pub Date : 2021-10-23 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211046447

Janardhan Krishnappa, Adeline Ngoh, Yeo Tong Hong, Chen ChunLiang, Chan Wei Shih Derrick

{"title":"Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam.","authors":"Janardhan Krishnappa, Adeline Ngoh, Yeo Tong Hong, Chen ChunLiang, Chan Wei Shih Derrick","doi":"10.1177/2329048X211046447","DOIUrl":"https://doi.org/10.1177/2329048X211046447","url":null,"abstract":"Breath-holding spells are common non-epileptic events with onset between 6 months and 18 months of age that are usually triggered by minor painful events or strong emotions. Symptomatic treatments for breath-holding spells include iron supplementation, glycopyrrolate and piracetam. Hyperekplexia is a rare non-epileptic disorder characterized by generalized hypertonia and exaggerated startle. Prolonged stiffening triggered by startle can lead to desaturation, cardiac asystole and sudden infant death. It is commonly treated with Clonazepam and other anti-epileptic drugs. Piracetam has been reported to be effective in some anecdotal cases. We describe a case of an infant with frequent hyperekplexia-like breath-holding events who failed to respond adequately to glycopyrrolate, pace-maker insertion and clonazepam, who had marked improvement in his symptoms with high dose Piracetam. High dose Piracetam should be considered in infants with similar severe hyperekplexia-like/breath-holding events as it may be beneficial in ameliorating the acute and chronic course in these children.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211046447"},"PeriodicalIF":0.0,"publicationDate":"2021-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/fd/10.1177_2329048X211046447.PMC8543562.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39565048","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

Vitamins are Indeed Vital Amines: A Discussion of 3 Deficiencies With Neurologic Manifestations. 维生素确实是重要的胺：讨论 3 种具有神经系统表现的缺乏症。

Child neurology open Pub Date : 2021-10-23 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211046440

Bedirhan Tarhan, Sydur Rahman, Nancy Joseph, Douglas Hyder, Carla Zingariello, Peggy R Borum, John Sladky, Steven Parrish Winesett

引用次数: 0

Long-term Efficacy of Perampanel in a Child with Dravet Syndrome. Perampanel治疗儿童Dravet综合征的长期疗效。

Child neurology open Pub Date : 2021-10-20 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211050711

Eulàlia Turón-Viñas, Asunción Díaz-Gómez, Elisabet Coca, Lucía Dougherty, Carlos Ruiz, Susana Boronat

{"title":"Long-term Efficacy of Perampanel in a Child with Dravet Syndrome.","authors":"Eulàlia Turón-Viñas, Asunción Díaz-Gómez, Elisabet Coca, Lucía Dougherty, Carlos Ruiz, Susana Boronat","doi":"10.1177/2329048X211050711","DOIUrl":"https://doi.org/10.1177/2329048X211050711","url":null,"abstract":"Dravet syndrome is a genetic developmental and epileptic encephalopathy (DEE) mostly due to mutations in SCN1A gene. Perampanel is a selective and non-competitive alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist. There is increasing experience in the use of perampanel in this syndrome; however, there is still a lack of evidence of sustained benefit years after the beginning of the treatment. We report a twelve-year-old girl who was diagnosed with Dravet Syndrome when she was 2 years old and has been on perampanel since she was 7. Her genetic test showed a de novo previously described heterozygous SCN1A mutation in the 24th exon (c.4547C>A, p.Ser1516*). She received previous antiseizure drug combinations with little benefit. When perampanel was started, there was a complete resolution of her spontaneous seizures that has continued five years later. More studies are needed to investigate if there is an association between this excellent response and the genotype of our patient.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211050711"},"PeriodicalIF":0.0,"publicationDate":"2021-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/a6/10.1177_2329048X211050711.PMC8532213.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39553880","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: 4

Lipomatous Infiltration in Tuberous Sclerosis Complex - A Case Series and Literature Review. 结节性硬化症复合体的脂肪瘤浸润-一个病例系列和文献回顾。

Child neurology open Pub Date : 2021-10-20 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211048065

Mohammed Ilyas, Julio Quezada, Erin K Opfer

引用次数: 1