Neuropediatrics最新文献_第7页

Reversal of Benzodiazepine-Induced Myoclonus by Flumazenil in the Neonatal Intensive Care Unit. 在新生儿重症监护室使用氟马西尼逆转苯二氮卓引起的肌阵挛

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-01 Epub Date: 2024-06-05 DOI: 10.1055/a-2338-5736

Gianluca D'Onofrio, Philippe Major

引用次数: 0

Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy. 杜兴氏肌肉萎缩症儿童和青少年中与体脂量增加有关的频繁发生的未被发现的椎体骨折。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-09-17 DOI: 10.1055/a-2417-0441

Kanlaya Prasiw,Chaiyos Khongkhatithum,Praman Fuangfa,Arpakorn Kositwattanarerk,Pat Mahachoklertwattana,Preamrudee Poomthavorn

{"title":"Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy.","authors":"Kanlaya Prasiw,Chaiyos Khongkhatithum,Praman Fuangfa,Arpakorn Kositwattanarerk,Pat Mahachoklertwattana,Preamrudee Poomthavorn","doi":"10.1055/a-2417-0441","DOIUrl":"https://doi.org/10.1055/a-2417-0441","url":null,"abstract":"AIMPatients with Duchenne muscular dystrophy (DMD) have an increased risk of vertebral fractures (VFs). Ethnic variations may partly contribute to the fracture risk. This study aimed to demonstrate the VFs and body fat mass in Asian patients with DMD.METHODSDemographic data and DMD-related parameters of the enrolled patients were collected. Lateral thoracolumbar spine radiographs were performed for VF assessment. Genant classification was applied for VF severity grading (mild, moderate and severe). Body composition analysis using dual-energy X-ray absorptiometry was performed. Serum calcium, phosphate, intact parathyroid hormone and 25-hydroxyvitamin D concentrations were determined.RESULTSThere were 25 children and adolescents with DMD enrolled. Median (IQR) age was 12.9 (9.6, 19.3) years. Nine patients (36%) had VFs with a total of 31 sites of VFs (mild, N=10; moderate, N=3 and severe, N=18). These VFs had never been recognized prior to this study. Comparing with the non-VF group, the VF group received a significantly greater cumulative prednisolone equivalent dose (1,258 (948, 1,664) vs. 291 (17, 823) mg/kg, p=0.003). Body fat mass, represented by fat mass index and body fat percentage Z-scores was greater in the VF group [2.46 (2.21, 2.51) vs. 1.63 (0.36, 2.07), p=0.011 and 4.4 (3.1, 5.5) vs. 1.8 (0.6, 3.5), p=0.008, respectively]. No differences in serum calciotropic hormones and vitamin D status were demonstrated between patients with and without VFs.CONCLUSIONSVFs were frequent in patients with DMD. Patients with VFs had greater cumulative glucocorticoid dose and body fat mass than those without VFs.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"22 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142253031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques. 癫痫手术：用微创技术缩小差距。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-09-09 DOI: 10.1055/s-0044-1789235

Georgia Ramantani

引用次数: 0

Pediatric Tolosa-Hunt Syndrome with Ptosis and Transient Periorbital Headache. 小儿托洛萨-亨特综合征伴眼睑下垂和一过性眶周头痛。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-03-28 DOI: 10.1055/s-0044-1782681

Mari Asakura, Masashi Ogasawara, Mizuho Igarashi, Keigo Takeshima, Eri Fukao, Yoji Ikuta

引用次数: 0

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago. 为外显子组测序未解决的病例进行基因组测序：在 30 年前的一个病例中发现 TBCK 单外显子缺失。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-03-28 DOI: 10.1055/s-0044-1782680

Maureen Jacob, Melanie Brugger, Stephanie Andres, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Erik Tilch, Martin Pavlov, Katharina Mayerhanser, Julia Hoefele, Thomas Meitinger, Juliane Winkelmann, Theresa Brunet

{"title":"Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.","authors":"Maureen Jacob, Melanie Brugger, Stephanie Andres, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Erik Tilch, Martin Pavlov, Katharina Mayerhanser, Julia Hoefele, Thomas Meitinger, Juliane Winkelmann, Theresa Brunet","doi":"10.1055/s-0044-1782680","DOIUrl":"10.1055/s-0044-1782680","url":null,"abstract":"In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. We report the case of a female patient with profound NDD who died 30 years ago at the age of 3 years and for whom genome sequencing (GS) now identified a single-exon deletion in TBCK previously missed by ExomeDepth, the copy number variation (CNV) detection algorithm in ES.Deoxyribonucleic acid (DNA) was extracted from frozen muscle tissue of the index patient and the parents' blood. Genome data were analyzed for structural variants and single nucleotide variants (SUVs)/indels as part of the Bavarian Genomes consortium project.Biallelic variants in TBCK, which are linked to the autosomal recessive disorder TBCK syndrome, were detected in the affected individual: a novel frameshift variant and a deletion of exon 23, previously established as common but underrecognized pathogenic variant in individuals with TBCK syndrome. While in the foregoing ES analysis, calling algorithms for (SNVs)/indels were able to identify the frameshift variant, ExomeDepth failed to call the intragenic deletion.Our case illustrates the added value of GS for the detection of single-exon deletions for which calling from ES data remains challenging and confirms that the deletion of exon 23 in TBCK may be underdiagnosed in patients with NDDs. Furthermore, it shows the importance of \"molecular or genetic autopsy\" allowing genetic risk counseling for family members as well as the end of a diagnostic odyssey of 30 years.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"260-264"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140318833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Levetiracetam Dosing Based on Glasgow Coma Scale Scores in Pediatric Traumatic Brain Injury Patients. 根据格拉斯哥昏迷量表评分确定小儿脑外伤患者的左乙拉西坦剂量。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-05-13 DOI: 10.1055/s-0044-1786796

Victoria Miklus, Lindsay Trout, Katelyn Even

{"title":"Levetiracetam Dosing Based on Glasgow Coma Scale Scores in Pediatric Traumatic Brain Injury Patients.","authors":"Victoria Miklus, Lindsay Trout, Katelyn Even","doi":"10.1055/s-0044-1786796","DOIUrl":"10.1055/s-0044-1786796","url":null,"abstract":"Introduction: Severe traumatic brain injury (TBI) increases the risk of early posttraumatic seizures (EPTS). Guidelines suggest the use of prophylactic antiseizure agents, including levetiracetam. This study aims to evaluate the feasibility of using levetiracetam dosing based on Glasgow Comas Scale (GCS) scores with higher doses used for more severe TBI.Methods: Patients 6 months to 18 years old admitted to Penn State Hershey Children's Hospital (PSHCH) with a TBI who received levetiracetam for EPTS prophylaxis with at least one documented GCS score were included. Patients were divided into two cohorts: before and after implementation of the pediatric TBI Cerner PowerPlan at PSHCH which standardized levetiracetam dosing based on GCS scores. Primary outcome was appropriate dosing of levetiracetam based on GCS. Secondary outcomes included seizure occurrence and adverse effects.Results: Eighty-five patients were included: 42 in the pre-PowerPlan group and 43 in the post-PowerPlan group. Overall, 46 (54%) patients received the appropriate levetiracetam dose based on GCS (pre-PowerPlan, n = 19 [45%] vs. post-PowerPlan n = 27 [63%], p = 0.104). Sixty-four percent of severe TBI patients received appropriate levetiracetam dosing after implantation of the PowerPlan compared with 28% prior to the PowerPlan (p = 0.039). Three patients in each group experienced a seizure while on levetiracetam. Two patients experienced agitation and somnolence attributed to levetiracetam.Conclusion: Levetiracetam dosing based on GCS scores in pediatric TBI patients is a novel approach, and dosing accuracy may be increased with use of a PowerPlan. Additional large-scale studies are needed to evaluate efficacy and safety of this approach prior to widespread implementation.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"224-231"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation. 一名患有新型致病性 COL4A1 基因突变的耐药性局灶性癫痫的一岁儿童接受癫痫切除手术后取得良好疗效

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-01-02 DOI: 10.1055/a-2236-7066

Nicholas Fearns, Matias Wagner, Ingo Borggräfe, Mathias Kunz, Jan Rémi, Christian Vollmar

{"title":"Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation.","authors":"Nicholas Fearns, Matias Wagner, Ingo Borggräfe, Mathias Kunz, Jan Rémi, Christian Vollmar","doi":"10.1055/a-2236-7066","DOIUrl":"10.1055/a-2236-7066","url":null,"abstract":"Pathogenic variants in COL4A1, encoding the α chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in COL4A1. She presented with drug-resistant focal epilepsy with daily seizures from the age of 2 months, refractory to several combinations of antiseizure medications, as well as mild right-sided hemiparesis and developmental delay. All presurgical diagnostic modalities, including ictal and interictal electroencephalography, magnetic resonance imaging, and ictal fluorodeoxyglucose positron emission tomography, showed congruent findings, pointing toward one single left occipital epileptogenic zone (EZ). We performed a left occipital lobectomy, using intraoperative electrocorticography to confirm the boundaries of the EZ. After surgery, the patient has remained seizure free, and both cognitive and motor developments have improved. Histopathology of the resected brain tissue showed FCD type Ia. Resective epilepsy surgery can have a very good outcome, also in patients with genetic mutations in COL4A1, constituting a less invasive option than the previously used more radical surgical procedures such as hemispherectomy.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"255-259"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)-A Quantitative EEG Study. 胎儿酒精中毒综合症（FASD）患儿大脑半球间连贯性和认知能力降低--脑电图定量研究。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-02-06 DOI: 10.1055/a-2262-7781

Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes

{"title":"Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)-A Quantitative EEG Study.","authors":"Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes","doi":"10.1055/a-2262-7781","DOIUrl":"10.1055/a-2262-7781","url":null,"abstract":"Background: Magnetic resonance imaging in fetal alcohol spectrum disorder (FASD) children showed altered connectivity, suggesting underlying deficits in networks, which may be related to cognitive outcome. Functional connectivity has been of interest in neurophysiological research with quantitative electroencephalography (QEEG) as useful tool for measuring pathology, not detectable by normal EEG. The aim of this study was to investigate differences in the EEG interhemispheric coherence (ICoh) in children diagnosed with FASD compared with healthy controls and to relate the results to cognitive scores.Method: Analysis of ICoh in 81 FASD children (4-Digit Code) compared with 31 controls. The children underwent cognitive assessment, and EEG was performed and used for analysis. Group comparisons and analysis of covariance interaction models were used to test for differences between FASD and controls but also to look for differences between FASD subgroups. Significant findings were correlated to cognitive scores.Results: Lower ICoh was found in the frontal and temporal derivations in the FASD group. When comparing FASD subgroups, children with fetal alcohol syndrome had lower ICoh occipital. Reduced ICoh in the temporal alpha band was correlated with lower performance IQ in the FASD group.Conclusion: Our findings could imply hypoconnectivity between the hemispheres with impact on cognition. We suggest that EEG coherence analysis could be a sensitive parameter in the detection of electrophysiological abnormalities in FASD with possible clinical relevance. These results may indicate that QEEG could be used as biomarker for FASD. However, further research is needed to determine the role of QEEG analysis in the diagnosis of FASD.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"241-249"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11245327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139698000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases. PDE10A突变是儿童期多动障碍的新病因：对所有已发表病例的回顾。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-03-05 DOI: 10.1055/a-2281-1822

Stefania Kalampokini, Georgia Xiromerisiou, Panagiotis Bargiotas, Violetta Christophidou Anastasiadou, Paul Costeas, Georgios M Hadjigeorgiou

{"title":"PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.","authors":"Stefania Kalampokini, Georgia Xiromerisiou, Panagiotis Bargiotas, Violetta Christophidou Anastasiadou, Paul Costeas, Georgios M Hadjigeorgiou","doi":"10.1055/a-2281-1822","DOIUrl":"10.1055/a-2281-1822","url":null,"abstract":"Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders. A comprehensive literature review of all reported cases of PDE10A mutations in PubMed and Web of Science was performed in English. We included eight studies, describing 31 patients harboring a PDE10A mutation and exhibiting a hyperkinetic movement disorder with onset in infancy or childhood. Mutations in both GAF-A, GAF-B regulatory domains and outside the GAF domains of the PDE10A gene have been reported to cause hyperkinetic movement disorders. In general, patients with homozygous mutations in either GAF-A domain of PDE10A present with a more severe phenotype and at an earlier age but without any extensive abnormalities of the striata compared with patients with dominant variants in GAF-B domain, indicating that dominant and recessive mutations have different pathogenic mechanisms. PDE10A plays a key role in regulating control of striato-cortical movement. Comprehension of the molecular mechanisms within the cAMP and cGMP signaling systems caused by PDE10A mutations may inform novel therapeutic strategies that could alleviate symptoms in young patients affected by these rare movement disorders.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"217-223"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation. 与 PIGA 基因突变有关的癫痫性脑病前早发肌张力障碍和视力损伤。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-01-05 DOI: 10.1055/a-2239-1985

Catarina Franquelim, Andreia Romana, Augusto Rachão, Joana Sousa Martins, José Paulo Monteiro, João Carvalho

{"title":"Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation.","authors":"Catarina Franquelim, Andreia Romana, Augusto Rachão, Joana Sousa Martins, José Paulo Monteiro, João Carvalho","doi":"10.1055/a-2239-1985","DOIUrl":"10.1055/a-2239-1985","url":null,"abstract":"The association between dystonia and early-onset epileptic encephalopathy (EOEE) may have a genetic basis. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) germline mutations have been described in the last decade and associated with refractory EOEEs. Dysmorphisms and visceral abnormalities have also been reported. Here, we present the case of a now 8-month-old child who was evaluated for dystonia, visual impairment, and developmental delay at 2 months of age, followed by refractory focal seizures when he was 4 months old. The remaining examination was normal, besides an accelerated linear growth. His brain magnetic resonance and an extensive metabolic investigation failed to show any abnormalities. At 7 months of age, the exome sequencing found a hemizygous PIGA pathogenic variant-c.1352T > C (p.(Ile451Thr). Seizures improved after the association of carbamazepine with levetiracetam and the beginning of the ketogenic diet. To our knowledge, this is the first time the phenotype associated with this specific mutation is described. Our patient had the singularity of manifesting with remarkable dystonia, over 2 months before the onset of seizures. We also point to the utility of the gene sequencing approach in the diagnosis of patients with dystonia and EOEEs, since identification of the genetic cause may help in patient's management and families' empowerment.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"265-268"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139106461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0