Child neurology open最新文献_第5页

A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy. ALG6-CDG伴婴儿期突发性难治性癫痫1例。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231153781

Daniel James Clark, Thomas Murray, Michael Drees, Neil Kulkarni

引用次数: 0

Dispensary Cannabidiol (CBD): Nothing to Worry About! 大麻二酚(CBD):不用担心!

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231169395

Taylor Elliott, Andrew J Gienapp, James W Wheless

{"title":"Dispensary Cannabidiol (CBD): Nothing to Worry About!","authors":"Taylor Elliott, Andrew J Gienapp, James W Wheless","doi":"10.1177/2329048X231169395","DOIUrl":"https://doi.org/10.1177/2329048X231169395","url":null,"abstract":"Introduction: Despite US FDA approval of cannabidiol (CBD) liquid (Epidiolex®), patients with epilepsy still supplement prescription treatments with dispensary CBD. This study aimed to evaluate therapeutic effectiveness of dispensary CBD. Methods: We retrospectively collected dosage information, CBD serum levels, efficacy, and adverse effects from patient charts (children, adolescents, adults) (n = 18). Results: All 18 patients showed no clinical benefit from dispensary CBD as detectable serum levels never reached a therapeutic range of 150 ng/mL (6 patients had barely detectable levels that were below laboratory reporting thresholds). Minute levels of tetrahydrocannabinol (THC) were found in 3 patients, and moderate levels were found in 1 patient. Conclusion: Dispensary CBD failed to reach effective therapeutic levels in all of these patients. The presence of THC demonstrates the current lack of regulation of dispensary CBD. Anecdotal reports of clinical effectiveness should be considered an effect of concomitant prescription antiseizure medications and not dispensary CBD.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231169395"},"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/e2/f4/10.1177_2329048X231169395.PMC10123877.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9413758","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

Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children. 全外显子组测序发现了与中国儿童神经发育障碍、语言功能障碍和小头畸形相关的CTNNB1基因的两个新的截断突变。

Child neurology open Pub Date : 2023-01-01 DOI: 10.1177/2329048X231184184

Yongchun Ji, Qin Xia, Hewei Zhang, Hongliang Huo, Xujun Cao, Weiwei Wang, Qin Gu

引用次数: 0

The Case of the Rare Malformation and Rare Variant: An Infant with a Self-Embolized Torcular Dural Sinus Malformation and a Concomitant Prothrombin Variant. 罕见畸形及罕见变异一例:婴儿自栓塞性硬脑膜环窦畸形及伴随的凝血酶原变异。

Child neurology open Pub Date : 2022-11-28 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221140784

Roxanne M Miller, Anthony Zarka, Samiya F Ahmad

引用次数: 0

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene. 由DYSF基因剪接位点变异引起的三好肌营养不良。

Child neurology open Pub Date : 2022-11-16 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221140298

Grace Bryant, Steven A Moore, James S Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan

{"title":"Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene.","authors":"Grace Bryant, Steven A Moore, James S Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan","doi":"10.1177/2329048X221140298","DOIUrl":"https://doi.org/10.1177/2329048X221140298","url":null,"abstract":"Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD is characterized by muscle weakness and atrophy predominantly affecting the calf muscles with symptoms onset between 14 and 40 years of age. There is no clear phenotype - genotype correlation for dysferlinopathy. We describe a 15-year-old girl who presented with a phenotype consistent with MMD. However, she was initially treated for presumed polymyositis without improvement. Subsequent genetic testing revealed two novel variants in DYSF: c.3225dup (p.Gly1076Trpfs*38) in exon 30 and c.3349-2A > G (Splice acceptor) in intron 30. No dysferlin was detected in a muscle biopsy using immunostains and western blots, a result consistent with dysferlinopathy that supports the pathogenicity of the DYSF variants.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221140298"},"PeriodicalIF":0.0,"publicationDate":"2022-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e8/e7/10.1177_2329048X221140298.PMC9677140.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40702385","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

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease. 斯里兰卡婴儿桑德霍夫病患者的临床表现和遗传异质性包括两种新变异

Child neurology open Pub Date : 2022-11-15 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221139495

Siddiqa Ozaal, Subashinie Jayasena, Surani Jayakody, Sabine Schröder, Anura Jayawardana, Eresha Jasinge

{"title":"Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.","authors":"Siddiqa Ozaal, Subashinie Jayasena, Surani Jayakody, Sabine Schröder, Anura Jayawardana, Eresha Jasinge","doi":"10.1177/2329048X221139495","DOIUrl":"https://doi.org/10.1177/2329048X221139495","url":null,"abstract":"Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variations of native iSDs. Café-au-lait spots, mitral regurgitation and atrial septal defect were found in our patients but never reported in the literature. We found c.1417 + 5G>A and c.1303_1304insCT p.(Arg435Thrfs*10) novel variants of HEXB gene among the nine different gene mutations that were identified. The commonest HEXB gene variant identified in India was c.850 C4T (p.R284X) but was not noticed among Sri Lankan patients. In contrast to other studies, all our patients died within the age of two years. This is the first Sri Lankan study that expands the clinical and molecular basis of iSD with its novel findings.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221139495"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/65/53/10.1177_2329048X221139495.PMC9673506.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40698804","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

An Unusual Cause of Cerebral Infarction in a Tanzanian School Child. 一名坦桑尼亚学龄儿童脑梗死的不寻常原因。

Child neurology open Pub Date : 2022-11-14 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221139411

Jay Lodhia, Hilary Chipongo, Adnan Sadiq, Khadija Khelef, Kenan Bosco, Marieke Dekker

引用次数: 1

Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings. SON基因新发杂合变异体导致ZTTK综合征:两例病例报告及神经学研究综述。

Child neurology open Pub Date : 2022-11-09 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221119658

Maya Eid, Sonal Bhatia

{"title":"Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings.","authors":"Maya Eid, Sonal Bhatia","doi":"10.1177/2329048X221119658","DOIUrl":"https://doi.org/10.1177/2329048X221119658","url":null,"abstract":"Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a newly described autosomal dominant multisystem developmental disorder resulting from a mutation of the SON gene located on chromosome region 21q22.11. It is characterized by heterogeneous features such as intellectual disability, facial dysmorphisms, poor feeding, vision abnormalities, musculoskeletal anomalies, congenital heart and genitourinary system defects, as well as several unique neurological findings including seizures, tone abnormalities, autism spectrum disorder and variable brain abnormalities noted on neuroimaging. Unfortunately, we lack adequate information regarding the spectrum of these neurological symptoms. In this study, we report 2 new unrelated cases of ZTTK syndrome, and identify new pathogenic variants in the SON gene through microarray analysis and whole-exome sequencing. We also emphasize the neurological manifestations of the syndrome in our patients and discuss the significance of gathering more data regarding neurological presentation, particularly seizure characteristics and long-term developmental progression. This information will be crucial to help understand long-term neurodevelopmental prognosis in these patients.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221119658"},"PeriodicalIF":0.0,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/41/fa/10.1177_2329048X221119658.PMC9661544.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40479470","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

Neonatal Aneurysm Rupture in a Child with a De Novo Variant to ANKRD17. ANKRD17新生变异患儿的新生儿动脉瘤破裂

Child neurology open Pub Date : 2022-10-18 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221134600

Rebecca Silverstein, Michael Kuwabara, Brian Appavu

{"title":"Neonatal Aneurysm Rupture in a Child with a De Novo Variant to ANKRD17.","authors":"Rebecca Silverstein, Michael Kuwabara, Brian Appavu","doi":"10.1177/2329048X221134600","DOIUrl":"https://doi.org/10.1177/2329048X221134600","url":null,"abstract":"Ankyrin repeat domain 17 (ANKRD17) is postulated to play a role in the integrity of blood vessels and has been reported to be associated with developmental delays, epilepsy, and growth restriction. Whereas ANKRD17-deficient mice have been demonstrated to experience catastrophic hemorrhages, vascular malformations have not been reported in human patients with pathogenic variants to ANKRD17. We report a term male neonate with a heterozygous de novo variant to ANKRD17 (ANKRD17; c6988 C > G, P.[P2330a]) who experienced subarachnoid hemorrhage from a ruptured aneurysm involving the left middle cerebral artery. He experienced acute symptomatic seizures and required clipping of his aneurysm at 35 days of life, later progressing to developing multifocal drug-resistant epilepsy. To our knowledge, this case represents the first report of a cerebrovascular malformation from a patient with ANKRD17. Further work is needed to investigate whether pathogenic variants to ANKRD17 can lead to cerebral aneurysms or other cerebrovascular malformations in children.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221134600"},"PeriodicalIF":0.0,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dc/8c/10.1177_2329048X221134600.PMC9583192.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40566394","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

A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention. 7岁男童癫痫伴肌阵挛性缺失1例:癫痫符号学、遗传病因和脑电图相关性对及时干预的重要性。

Child neurology open Pub Date : 2022-10-18 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221131738

Ingrid Frydson, Sreenivas Avula, Samiya Fatima Ahmad

{"title":"A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention.","authors":"Ingrid Frydson, Sreenivas Avula, Samiya Fatima Ahmad","doi":"10.1177/2329048X221131738","DOIUrl":"https://doi.org/10.1177/2329048X221131738","url":null,"abstract":"Epilepsy with myoclonic absence (EMA) is a rare disorder with a mean age of onset of 7 years. It is characterized clinically by rhythmic, myoclonic jerking of the head, extremities or both, with impairment of consciousness and an ictal electroencephalogram (EEG) pattern of 3 Hz bilateral, synchronous and symmetrical spike and wave discharges. Prognosis is guarded and most patients are pharmaco-resistant. We present a case of EMA, found to have a FOXP1 gene pathogenic variation and a variance of unknown significance in the MBD5 gene, who was admitted to the intensive care unit in super-refractory status epilepticus. Given the overlap in symptoms of syndromes including myoclonic-astatic epilepsy, childhood absence epilepsy and juvenile myoclonic epilepsy, a detailed seizure semiology with EEG correlation, cannot be over emphasized. In this case, the genetic etiology may lend an interesting insight to the severity and prognosis.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221131738"},"PeriodicalIF":0.0,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/0e/10.1177_2329048X221131738.PMC9585556.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40566395","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