Journal of pediatric neurology最新文献

{"title":"Adrenocorticotropic Hormone-Induced Dyskinesia and Probable Sudden Unexpected Death in an Infant with Early Infantile Developmental and Epileptic Encephalopathy—Infantile Epileptic Spasm Syndrome Overlap","authors":"Suman Das, U. S. Roy, A. Biswas, U. Chakraborty","doi":"10.1055/s-0042-1757196","DOIUrl":"https://doi.org/10.1055/s-0042-1757196","url":null,"abstract":"A 2.5-month-old infant with global developmental delay, initially had generalized tonic spasms followed by appearance of infantile spasms from 4.5 months of age. Thus, he had evolution from early infantile developmental and epileptic encephalopathy (EIDEE) to infantile epileptic spasm syndrome (IESS). Neuroimaging and screening of inborn errors of metabolism were normal, but sleep electroencephalogram showed suppression-burst pattern. Treatment with intramuscular injections of adrenocorticotropic hormone (ACTH) was associated with significant control of infantile spasms, but was followed by development of right hemichoreiform movements 2 days later. Upon continuing ACTH treatment, the dyskinesia generalized, prompting us to stop it and shift to vigabatrin which resulted in partial control of his spasms. Whole-exome sequencing revealed an autosomal dominant heterozygous variation of uncertain significance in the NPRL3 gene. At 6 months of age, he suffered of a probable sudden unexpected death, without any notable illness. The case is unique because both the phenomena—ACTH-induced dyskinesia and probable sudden unexpected death in infancy—are rarely described in the EIDEE-IESS continuum.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"69 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75907224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Ruqyah in Patients with Neuropsychiatric Disorders","authors":"H. Çaksen","doi":"10.1055/s-0042-1757622","DOIUrl":"https://doi.org/10.1055/s-0042-1757622","url":null,"abstract":"","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"52 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75964068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Cerebral Sinovenous Thrombosis Post–Therapeutic Hypothermia in Perinatal Asphyxia: A Case Report","authors":"Kirthana Sb, Medha Goyal, Dwayne Mascarenhas, A. Haribalakrishna","doi":"10.1055/s-0042-1760239","DOIUrl":"https://doi.org/10.1055/s-0042-1760239","url":null,"abstract":"Abstract Cerebral sinovenous thrombosis (CSVT) is an uncommon condition in neonates and often leads to adverse neurodevelopmental outcomes. A high index of suspicion for CSVT is mandated for asphyxiated infants, especially following therapeutic hypothermia (TH). Magnetic resonance venography can assist in the early detection of CSVT in suspected cases. Timely initiation of anticoagulation therapy prevents thrombus propagation and allows recanalization at around 6 to 12 weeks. Long-term follow-up is essential as cognitive impairment, motor dysfunctions, and epilepsy are common complications. Herein, we describe the clinical course of a term infant who developed CSVT in the first week of life following TH for perinatal asphyxia, its management strategies, and short-term follow-up till infancy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":"140 - 144"},"PeriodicalIF":0.2,"publicationDate":"2022-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90056437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visiting the Sick in Hospitalized Children with Neurological Disorders","authors":"H. Çaksen","doi":"10.1055/s-0042-1756449","DOIUrl":"https://doi.org/10.1055/s-0042-1756449","url":null,"abstract":"","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"19 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81732256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcome in Childhood Stroke: Comparing Functional Outcome by Modified Rankin Scale with Neurological Outcome by Pediatric Stroke Outcome Measure","authors":"T. Aprasidze, T. Shatirishvili, G. Oesch, G. Lomidze, N. Tatishvili","doi":"10.1055/s-0043-1761620","DOIUrl":"https://doi.org/10.1055/s-0043-1761620","url":null,"abstract":"Abstract Different scales are used as outcome predictors following arterial ischemic stroke (AIS) in children. Pediatric stroke outcome measure (PSOM) gives information about neurological deficits and function and modified Rankin scale (mRS) about functional outcome. Research examining the relationship between the two measures is scarce. The aim of this study is to correlate the two different scales and to get some information on the long course of outcomes according to these outcome measures. Sixty-one children with the diagnosis of AIS and normal neurodevelopment prior to stroke were investigated. Results of outcome measures (PSOM and mRS) from ≥ 2 years of follow-up were analyzed. Changes of neurological deficits (subcategories of PSOM) over time (discharge, 6 months, and ≥2 years) and prognostic impact on the outcome of the Pediatric National Institutes of Health Stroke Scale and etiology/risk factors are presented. Cramer's V with a coefficient of 0.836 (df-1) indicates a strong association between dichotomized total PSOM and mRS scores. The correlation between the total scales was strong (rho = 0.983, p  < 0.001). The correlation coefficient was highest for sensorimotor (rho = 0.949, p  < 0.001), then for language (rho = 0.464, p  < 0.001) and cognitive (rho = 0.363, p  = 0.004) subscales. PSOM scores improved at 6 months compared to the discharge state in sensorimotor ( p <0.001) and language ( p <0.026) domains, however, there was no statistically significant difference between PSOM scores at 6 months and >2 years follow-up. There was no improvement in cognitive PSOM scores during the follow-up period. There was a high concordance level between the two scales, illustrating that long-term neurological deficits after stroke are related to poor functional outcome. Significant improvement of sensorimotor and language function happened within the period from onset to 6 months of follow-up. Thus, early mobilization of appropriate rehabilitative therapy might improve the outcome. We conclude that both outcome classifications are applicable for assessing outcome after childhood AIS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"41 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82442943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal Dysraphism Spectrum: A Novel Protocol-based Approach for Accurate Diagnosis on Imaging","authors":"Abhilasha Rana, V. Krishnan, Rupi Jamwal","doi":"10.1055/s-0043-1761418","DOIUrl":"https://doi.org/10.1055/s-0043-1761418","url":null,"abstract":"Abstract The spectrum of spinal dysraphism includes various congenital anomalies of the spinal column and spinal cord. Clinical manifestations are varied and range from paraparesis, gastrointestinal, genitourinary, and musculoskeletal anomalies to asymptomatic cases depending on the level and extent of spinal involvement. Magnetic resonance imaging is the gold standard for assessing these complex spinal anomalies. Even for the experienced radiologist, diagnosis can be challenging in complex cases. It is essential to be aware of the normal embryological developmental stages of the spine for an adequate understanding of the complex anatomy, pathogenesis, and cliniconeuroradiological classification of spinal dysraphism, which is necessary for accurately diagnosing each case as a particular pathological entity. In this pictorial essay, we have depicted the stages and process of spinal embryogenesis, cliniconeuroradiological classification, and the imaging spectrum of spinal dysraphism. As the confusing terminologies and the numerous variants can potentially lead to misdiagnosis, we have proposed a step-wise protocol-based imaging approach to analyze each case and arrive at the correct diagnosis systematically. This would be particularly helpful in confusing and difficult cases, as accurate and early diagnosis is crucial for appropriate patient management.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"22 1","pages":"329 - 340"},"PeriodicalIF":0.2,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75320697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reversible Cerebral Vasoconstriction Syndrome with Intracerebral Hemorrhage in a Thalassemic Child—An Extremely Rare Complication","authors":"Suman Das, A. Biswas, U. S. Roy, B. Ray","doi":"10.1055/s-0043-1761483","DOIUrl":"https://doi.org/10.1055/s-0043-1761483","url":null,"abstract":"Abstract A 6-year-old known thalassemic boy presented with a posttransfusional thunderclap headache. A computed tomography scan showed left occipital lobar bleed and magnetic resonance angiography showed diffuse cerebral vasoconstriction, which resolved after 3 months, suggesting reversible cerebral vasoconstriction syndrome. He was treated with oral nimodipine for 3 months and had an excellent recovery without sequelae. To the best of the authors' knowledge, the index case is the first reported case of reversible cerebral vasoconstriction syndrome in a thalassemic child.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"56 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84597680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Sotos Syndrome: A Novel Frameshift Mutation of the NSD1 Gene Associated with Neonatal Encephalopathy Presenting without Overgrowth","authors":"P. Singh, Pradeep Suryawanshi, Reema Garegrat, Nandini Malshe","doi":"10.1055/s-0042-1756447","DOIUrl":"https://doi.org/10.1055/s-0042-1756447","url":null,"abstract":"Sotos syndrome type I is one of the more common genetic overgrowth disorders. It presents classically with macrocephaly, distinctive facial gestalt, and acromegalic features, along with neonatal complications including hypotonia, feeding difficulties, and hypoglycemia with other minor feature inconstancies. The phenotypical overlap of features of this syndrome, more so in neonatal age, thwarts an easy diagnosis. In this case report, a neonate of a nonconsanguineous marriage to a multigravida mother with insignificant obstetric history, presented primarily with respiratory difficulty, central hypotonia, and hypoglycemia. Sparse hair, tall forehead, pointed chin, and lax skin were accompanied by persistent encephalopathy and refractory myoclonic jerks. However, the quintessential features of pre- and postnatal overgrowth were lacking, making the line of diagnosis difficult. On neuroimaging, atypical diffuse pachygyria was found. Clinical exome sequencing revealed heterozygous single base pair deletion in exon 21 of the NSD1 gene on chromosome 5q35, resulting in an unreported frameshift and premature truncation of the protein 19 amino acids downstream to codon 2065, confirming the genetic diagnosis of autosomal dominant Sotos syndrome 1. The neonate later succumbed to death after withdrawal of ventilatory support.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"19 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85647244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Industry Payments to Pediatric Neurologists: An Analysis from the Open Payments Program","authors":"Paul Drake, Vaishali Thombre, Krishna Nallebelle, A. Veerapandiyan","doi":"10.1055/s-0042-1756444","DOIUrl":"https://doi.org/10.1055/s-0042-1756444","url":null,"abstract":"","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"40 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90108946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Spiritual Prescription for Patients with Stroke","authors":"H. Çaksen","doi":"10.1055/s-0042-1756448","DOIUrl":"https://doi.org/10.1055/s-0042-1756448","url":null,"abstract":"","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"73 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80042394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}