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Association of Guillain-Barre Syndrome and SARS COV 2 Infection in a Child: First Case Report from India. 儿童格林-巴利综合征与 SARS COV 2 感染相关：印度首例报告
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 Epub Date: 2021-12-29 DOI: 10.4103/jpn.JPN_242_20
Deepak Kumar, Garima Gupta, Urmila Jhamb
{"title":"Association of Guillain-Barre Syndrome and SARS COV 2 Infection in a Child: First Case Report from India.","authors":"Deepak Kumar, Garima Gupta, Urmila Jhamb","doi":"10.4103/jpn.JPN_242_20","DOIUrl":"10.4103/jpn.JPN_242_20","url":null,"abstract":"<p><p>Association of Guillain-Barre Syndrome (GBS) with SARS COV 2 infection has been found often in adults and elderly patients. However, this manifestation is rarely noted in children, only three pediatric patients have been reported in the literature globally. In this report, we describe an 8-year-old child who was admitted with an acute onset symmetrical quadriparesis. He had a history of SARI (fever, cough, and vomiting) 20 days prior to the admission. He was confirmed GBS by clinical assessment, CSF albuminocytological dissociation, and nerve conduction study. SARS COV 2 infectivity was confirmed by RTPCR in both child and mother. The course of the illness strongly suggests an association between the GBS and SARS COV 2 infection in this case.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"347-349"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400471","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 Phenotype of FASTKD2 Mutation. FASTKD2突变的临床表型。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_199_20
Ritesh Shah, Seema Balasubramaniam
{"title":"Clinical Phenotype of FASTKD2 Mutation.","authors":"Ritesh Shah,&nbsp;Seema Balasubramaniam","doi":"10.4103/jpn.JPN_199_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_199_20","url":null,"abstract":"<p><p>Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"319-322"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400468","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
Pediatric Skull Base Meningioma: Case Report and Review of Literature. 小儿颅底脑膜瘤:病例报告及文献回顾。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_264_20
N K Venkataramana, Shailesh A V Rao, B S Sridutt, N Krishna Chaitanya
{"title":"Pediatric Skull Base Meningioma: Case Report and Review of Literature.","authors":"N K Venkataramana,&nbsp;Shailesh A V Rao,&nbsp;B S Sridutt,&nbsp;N Krishna Chaitanya","doi":"10.4103/jpn.JPN_264_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_264_20","url":null,"abstract":"<p><p>Meningiomas are frequent in adults but rare in children, though they are not uncommon. They are known to occur in the pediatric population in all age groups. In children, meningiomas are usually known to be large, cystic, and even aggressive. Among them, skull base meningiomas constitute a distinct entity. Meningiomas arising from the skull base in those younger than the age of two years are rarely reported in literature. We report one such skull base meningioma, involving the middle and posterior cranial fossa, in a child of one year and eight months. The challenges associated in its diagnosis and management are presented.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"354-357"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10766416","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
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder. ndufs3相关疾病的线粒体超微结构缺陷。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_182_20
Debopam Samanta, Aravindhan Veerapandiyan, Thomas A Burrow, Murat Gokden
{"title":"Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.","authors":"Debopam Samanta,&nbsp;Aravindhan Veerapandiyan,&nbsp;Thomas A Burrow,&nbsp;Murat Gokden","doi":"10.4103/jpn.JPN_182_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_182_20","url":null,"abstract":"Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes the catalytic core of the complex I) have been reported in a small number of patients with variable phenotypes. We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder.","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"299-302"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10766418","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: 3
Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency--Two Children from Southern India. 可治疗的神经退行性疾病:脑叶酸运输缺乏症——来自印度南部的两个孩子。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_76_20
Vykuntaraju K Gowda, Balamurugan Natarajan, Varunvenkat M Srinivasan, Sanjay K Shivappa
{"title":"Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency--Two Children from Southern India.","authors":"Vykuntaraju K Gowda,&nbsp;Balamurugan Natarajan,&nbsp;Varunvenkat M Srinivasan,&nbsp;Sanjay K Shivappa","doi":"10.4103/jpn.JPN_76_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_76_20","url":null,"abstract":"<p><p>Cerebral folate transport deficiency results from impaired folate transport across the blood:choroid plexus:cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite. We are reporting two children with this treatable cerebral folate transport deficiency. Case 1: Seventeen-year-old boy presented with delayed milestones followed by regression, seizures, and intention tremors. On examination child had pyramidal and cerebellar signs. Magnetic resonance imaging (MRI) of brain revealed diffuse cerebral and cerebellar atrophy. Targeted next generation sequencing revealed homozygous missense pathogenic variant in <i>FOLR1</i> gene in exon 4 c.382C>T p.R128W, confirming the diagnosis of cerebral folate deficiency. Case 2: Six-year-old male child presented with delayed milestones, myoclonic jerks and cognitive regression from 3 years of age. Child had microcephaly with ataxia. Computed tomography (CT) of brain revealed multifocal calcifications. MRI brain revealed cerebellar atrophy with hyperintense T2 signal changes in the subcortical white matter of frontal and temporal lobes. Genetic testing revealed homozygous variant (c.493+2_493+6delTGAGG) in intron 4 of the <i>FOLR1</i> gene which is a novel pathogenic variant. Both children started on folinic acid and there was a significant improvement in development, behavior, ataxia, and decrease in seizure frequency. In conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, epilepsy, ataxia and neuroimaging showing cerebellar atrophy and calcification. Response to folinic acid supplementation is partial if diagnosed late and treatment initiation is delayed.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"273-276"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10766420","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
The Dysfunctional Gangway: SZT2-associated Epilepsy with Thick Corpus Callosum. 功能失调的舷梯:与厚胼胝体szt2相关的癫痫。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_128_20
Ajith Cherian, Kalikavil Puthanveedu Divya, Harini Pavuluri, Bejoy Thomas
{"title":"The Dysfunctional Gangway: <i>SZT2</i>-associated Epilepsy with Thick Corpus Callosum.","authors":"Ajith Cherian,&nbsp;Kalikavil Puthanveedu Divya,&nbsp;Harini Pavuluri,&nbsp;Bejoy Thomas","doi":"10.4103/jpn.JPN_128_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_128_20","url":null,"abstract":"<p><p>Mutations in seizure threshold 2 (<i>SZT2</i>) gene on chromosome 1p34.2 are an of late identified cause of epilepsy and epileptic encephalopathy. We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite significant multifocal epileptiform abnormalities on her electroencephalogram, she had a paucity of generalized discharges indicating a functional deficiency of corpus callosum inspite of its increased thickness seen on magnetic resonance imaging. Her clinical exome sequencing revealed a homozygous single base pair duplication in the <i>SZT2</i> gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of <i>SZT2</i> gene in the diagnostic algorithm of early childhood refractory epilepsy especially in the context of a thick yet dysfunctional corpus callosum.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"289-292"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400469","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
Posterior Fossa Hematoma Following Minor Trauma in an Infant with Rare Combined Factor V and Factor X Deficiency. 婴儿后窝血肿合并罕见的因子V和因子X缺乏症。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_172_20
Indrajit Rana, Laxmi Narayan Tripathy
{"title":"Posterior Fossa Hematoma Following Minor Trauma in an Infant with Rare Combined Factor V and Factor X Deficiency.","authors":"Indrajit Rana,&nbsp;Laxmi Narayan Tripathy","doi":"10.4103/jpn.JPN_172_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_172_20","url":null,"abstract":"<p><p>Congenital combined deficiency of factor V and factor X deficiency is extremely rare. We report this for the first time in literature in an infant who developed acute subdural hematoma in posterior fossa leading to hydrocephalus.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"296-298"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400470","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
Case Report of Congenital Kyphoscoliosis with Myotonic Dystrophy Type 1: Perioperative and Anesthetic Considerations. 先天性脊柱后凸伴1型肌强直性营养不良病例报告:围手术期及麻醉考虑。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_119_20
Arpit Agrawal, Tanvi Dhawale, Varinder Kaur, Gouri Rao Passi
{"title":"Case Report of Congenital Kyphoscoliosis with Myotonic Dystrophy Type 1: Perioperative and Anesthetic Considerations.","authors":"Arpit Agrawal,&nbsp;Tanvi Dhawale,&nbsp;Varinder Kaur,&nbsp;Gouri Rao Passi","doi":"10.4103/jpn.JPN_119_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_119_20","url":null,"abstract":"<p><p>Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention. The presence of muscular dystrophy may accelerate progression of scoliosis thus requiring surgical treatment. The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"281-284"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10392092","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
Tracheal Tube Kinking Amidst Prone Position During Neurosurgical Procedures: An Attempt to Elucidate the Mechanism. 神经外科手术中俯卧位时气管管扭结:试图阐明其机制。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_226_20
Nidhi Singh, Rajeev Chauhan, Rashi Sarna, Anjali Mohan
{"title":"Tracheal Tube Kinking Amidst Prone Position During Neurosurgical Procedures: An Attempt to Elucidate the Mechanism.","authors":"Nidhi Singh,&nbsp;Rajeev Chauhan,&nbsp;Rashi Sarna,&nbsp;Anjali Mohan","doi":"10.4103/jpn.JPN_226_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_226_20","url":null,"abstract":"<p><p>The tracheal tube (TT) kink during the intraoperative period is commonly observed and is worrisome once the positioning is done during neurosurgical procedures. The complications related to tube kink are more in the prone position and the mechanism of this with the neck in flexion has not been explained anywhere. We have made an attempt to elucidate the probable mechanism of this TT kink by using SOLIDWORKS 2020 {3D Computer assisted design (CAD) design software} and the precautions that can be taken to prevent perioperative catastrophe by describing a case of a pediatric patient undergoing a neurosurgical procedure while in the prone position.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"332-334"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400465","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
Metabolic Implications of Antiepileptic Therapy Among Children with Epilepsy. 抗癫痫治疗对癫痫儿童代谢的影响。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_333_20
Divyani Garg, Suvasini Sharma
{"title":"Metabolic Implications of Antiepileptic Therapy Among Children with Epilepsy.","authors":"Divyani Garg,&nbsp;Suvasini Sharma","doi":"10.4103/jpn.JPN_333_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_333_20","url":null,"abstract":"","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"267-268"},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749738","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
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