Child neurology open最新文献_第4页

Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment. 一个错误分类的基因组变异的奥德赛:从偶然发现评估的见解。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231199327

Omar Zgheib, Andrea Trombetti, André Juillerat, Siv Fokstuen

{"title":"Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.","authors":"Omar Zgheib, Andrea Trombetti, André Juillerat, Siv Fokstuen","doi":"10.1177/2329048X231199327","DOIUrl":"https://doi.org/10.1177/2329048X231199327","url":null,"abstract":"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, but serum calcium was severely low, with abnormally high parathyroid hormone. Thus, pseudohypoparathyroidism was suspected and confirmed by molecular genetic testing. Calcium and calcitriol supplementation led to calcium normalization and neurological symptom improvement. Given the absence of personal or family diabetes history, the HNF4A variant was reassessed and found to encode an alternative transcript with poor expression and activity levels, hence downgraded on expert advice from 'likely pathogenic' to 'likely benign'. Besides illustrating the importance of structured medical workup before launching extensive targeted exome sequencing, this case highlights the need for caution in incidental finding interpretation in patients lacking compatible phenotype or family history, and the value of expert advice in such variant interpretation.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231199327"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10305777","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

Autoantibodies to a Nodal Isoform of Neurofascin in Pediatric Chronic Inflammatory Demyelinating Polyneuropathy. 小儿慢性炎性脱髓鞘性多神经病变中神经束蛋白淋巴结异构体的自身抗体。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X221149618

Eline Chauvet, Geraldine Blanchard Rohner, Véroniqu Manel, Emilien Delmont, Joseph Boucraut, Stephanie Garcia-Tarodo

引用次数: 1

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies. 杜氏和贝克尔肌营养不良症的癫痫特征。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231159484

Praveen Kumar Ramani, Kindann Fawcett, Debra Guntrum, Hallie Samuel, Emma Ciafaloni, Aravindhan Veerapandiyan

{"title":"Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies.","authors":"Praveen Kumar Ramani, Kindann Fawcett, Debra Guntrum, Hallie Samuel, Emma Ciafaloni, Aravindhan Veerapandiyan","doi":"10.1177/2329048X231159484","DOIUrl":"https://doi.org/10.1177/2329048X231159484","url":null,"abstract":"Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described. Here we report seizure and electroencephalographic features of boys with dystrophinopathy and epilepsy. This is a retrospective chart review of eight patients with dystrophinopathy and epilepsy seen at Arkansas Children's Hospital and University of Rochester Medical center. Six patients had DMD and two had BMD. Five patients had generalized epilepsy. Three patients had focal epilepsy and the seizures were intractable in two of them. Brain imaging was available for five patients and were within normal limits. EEG abnormalities were noted in six patients. Seizures were well controlled on the current antiepileptic medication regimen in all patients. Further research is needed to better elucidate the underlying mechanisms and genotype-phenotype correlations.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231159484"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/95/10.1177_2329048X231159484.PMC9950600.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9293337","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

Capsular Warning Syndrome Leading to Acute Ischemic Stroke in a Pediatric Patient Secondary to Varicella Zoster Virus. 继发于水痘带状疱疹病毒的儿童患者的荚膜预警综合征导致急性缺血性中风。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X221149961

Min Ye Shen, Arezou Heshmati

引用次数: 1

Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus. SLC22A5表型谱的拓宽:原发性肉毒碱缺乏表现为局灶性肌阵挛。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231184183

Maymunah Khries, Albert Lim, Dipayan Mitra, Mark Anderson, Jan Bengtsson, Ann Bowron, Elizabeth Harris, Jessica Blickwedel, Karen Wood, Anna P Basu

{"title":"Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus.","authors":"Maymunah Khries, Albert Lim, Dipayan Mitra, Mark Anderson, Jan Bengtsson, Ann Bowron, Elizabeth Harris, Jessica Blickwedel, Karen Wood, Anna P Basu","doi":"10.1177/2329048X231184183","DOIUrl":"https://doi.org/10.1177/2329048X231184183","url":null,"abstract":"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, produced from fatty acids, into the mitochondria where they are oxidised to produce energy. We present the case history of an 8-year-old boy who presented with fever, lethargy, focal rhythmic (3 Hz) left wrist twitching, and severe encephalopathy. MRI brain showed basal ganglia involvement. Metabolic investigations revealed low serum carnitine; whole genome sequencing confirmed compound heterozygous SLC22A5 mutations. With carnitine replacement, intensive care support, and neurorehabilitation, he made a remarkable recovery, regaining independent breathing, speech, mobility, and hand use. Seizure presentation in PCD is rare and presentation with sustained focal myoclonus has not been previously reported. This case expands the known phenotype of PCD. Prompt carnitine replacement is imperative.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231184183"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bb/38/10.1177_2329048X231184183.PMC10354736.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10665726","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

SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report. SCN2A-伴有小脑萎缩的发作性和持续性共济失调1例报告。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231163944

Maeve Murray, Jaclyn M Martindale, Scott I Otallah

{"title":"SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report.","authors":"Maeve Murray, Jaclyn M Martindale, Scott I Otallah","doi":"10.1177/2329048X231163944","DOIUrl":"https://doi.org/10.1177/2329048X231163944","url":null,"abstract":"SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1. Given the rarity of SCN2A-associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A-associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxia lasting 4 months, cerebellar atrophy, and persistent mild ataxia with episodic exacerbations. Due to the patient's lack of early epilepsy, prolonged initial episode of ataxia, and cerebellar atrophy, this case broadens the scope of the SCN2A variant phenotype. SCN2A should be considered as a cause of early onset ataxia in children with targeted testing or as part of Whole Exome Sequencing (WES) in patients with new onset persistent or EA with or without seizures.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231163944"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/a2/10.1177_2329048X231163944.PMC10026144.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9219750","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

Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy. 额鼻发育不良:双胎妊娠胎儿MRI诊断的挑战。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231157147

Akash Virupakshaiah, Sara Reis Teixeira, Susan Sotardi, Grant Liu, Sonika Agarwal

引用次数: 0

Symptoms of Cerebrospinal Shunt Malfunction in Young Children: A National Caregiver Survey. 幼儿脑脊液分流功能障碍的症状:一项全国护理人员调查。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231153513

Rebecca A Dorner, Monica E Lemmon, Turaj Vazifedan, Erin Johnson, Renee D Boss

{"title":"Symptoms of Cerebrospinal Shunt Malfunction in Young Children: A National Caregiver Survey.","authors":"Rebecca A Dorner, Monica E Lemmon, Turaj Vazifedan, Erin Johnson, Renee D Boss","doi":"10.1177/2329048X231153513","DOIUrl":"https://doi.org/10.1177/2329048X231153513","url":null,"abstract":"Objective: This study aimed to describe shunt malfunction symptoms in children ≤5 years old. Results: In a national survey of 228 caregivers, vomiting (23.1%), irritability (20.8%), and sleepiness (17.2%) were the most frequent symptoms of malfunction. These symptoms also occurred in over 1/3 of \"false alarms\" experienced by 75% of respondents. Compared with malfunctions, irritability (OR = 1.39, 95% CI [1.05, 1.85], p = 0.022) and fever (OR = 2.22, 95% CI [1.44, 3.44], p < 0.001) were more likely false alarms. Caregivers counseled about \"most\" symptoms were more confident detecting malfunctions than those informed of \"some\" (p = 0.036). The majority of caregivers (85%) first contacted a neurosurgeon with concerns about malfunction, followed by neurologists (22%) and family/friends (19%). Most (85%) struggled to differentiate malfunction from regular development. Conclusions: Vomiting, irritability, and sleepiness were the most common symptoms of shunt malfunction and false alarms for children ≤5 years. Most caregivers reported challenges differentiating malfunctions from their child's development.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231153513"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/28/bc/10.1177_2329048X231153513.PMC9998412.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9096509","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

Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation 一例非典型癫痫患者的癫痫基因筛查对芳香族L-氨基酸脱羧酶（AADC）缺乏症的诊断

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048x231161027

Emily Gantz, J. Daniel Sharer, Tony M. McGrath

引用次数: 0

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy. EIF2AK2复发性从头变异体导致低髓鞘性白质营养不良。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231176673

Julia Macintosh, Isabelle Thiffault, Tomi Pastinen, László Sztriha, Geneviève Bernard

引用次数: 0