Journal of pediatric neurology最新文献

{"title":"Two Puzzling Cases of Headache: A Case Series","authors":"Jasmine Singh, C. Azad","doi":"10.1055/s-0043-1771351","DOIUrl":"https://doi.org/10.1055/s-0043-1771351","url":null,"abstract":"Abstract Migraine and epilepsy are important causes of morbidity in adolescents and young adults. Mostly the diagnosis is readily made by using the predefined criteria. However, in extremely rare cases, children who present with typical symptoms of migraine with aura or familial hemiplegic migraine might have an underlying etiology of epilepsy. We hereby present the case of two children who presented with migraine-like symptoms but on detailed workup revealed an underlying epilepsy. Both patients responded to antiepileptic medications. These cases highlight the importance of a detailed history and comprehensive investigation plan for such patients to prevent erroneous diagnosis and migraine prophylaxis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"4 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83003652","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":"Thalamic Gangliocytoma in a Pediatric Patient—An Incidental Diagnosis","authors":"Martha E. Oyuela-Mancera, Jennifer Maturana, Laura C. Rodríguez, Juan J. Perez-Acosta, César E. Rodado-Mieles, Nicolás Bastidas","doi":"10.1055/s-0043-1770374","DOIUrl":"https://doi.org/10.1055/s-0043-1770374","url":null,"abstract":"Abstract Gangliogliomas and gangliocytomas are ganglion cell tumors that arise from the neuroepithelium. The most marked difference between both tumors is that gangliogliomas have a neoplastic glial component. At the same time, gangliocytomas comprise mature dysplastic ganglion cells with no neoplastic glial component. A 4-year-old male patient, a product of third gestation, was admitted to the emergency department after presenting obstructive bronchial symptoms secondary to viral infection with bacterial coinfection; during this condition, he accidentally fell from the crib (1-m high), with subsequent mild cranioencephalic trauma. A noncontrast cranial computed tomography showed a solid mass in the right thalamus and generated basal ganglion edema. A gangliocytoma grade II was confirmed by magnetic resonance imaging and histopathological result. Our unique case demonstrates an atypical location not previously reported in the pediatric population.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"41 1","pages":"404 - 407"},"PeriodicalIF":0.2,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73481782","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":"The Atlas of Monogenic Epilepsies","authors":"A. Praticò","doi":"10.1055/s-0043-57242","DOIUrl":"https://doi.org/10.1055/s-0043-57242","url":null,"abstract":"Epilepsymay be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxicischemic encephalopathy, brain tumors, and drugs, all contributing to the imbalance between excitatory and inhibitory neurons and modulatory interneurons, which in turn provoke abnormal, simultaneous electric discharge(s) involving part or all the brain.1–3 In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term idiopathic epilepsy was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., West syndrome, Dravet syndrome, Ohtahara syndrome, Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and electroencephalographic patterns.3,4 In the last 20 years, the field of epilepsy gene discoveries has gone through at least three different stages: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genomewide association candidate gene studies; and (3) a genomewide era inwhich large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy.1–3 In thismonographic issue (subdivided in part 1 and part 2), entitled The Atlas of Monogenic Epilepsies, Pediatric Neurologists and Medical Geneticists and Scientists from different Italian universities contributed to 25 in-depth reviews covering many genes related to monogenic epilepsies. All the reviews encompass amolecular analysis of the genes and their related protein, as well as a clinical description of the associatedphenotypesand thepossibilitiesofgene-specific treatment. These reviews may be subdivided, according to proteins functions, to:","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"9 1","pages":"145 - 145"},"PeriodicalIF":0.2,"publicationDate":"2023-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75331458","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":"Coronavirus Disease 2019-Related Fulminant Idiopathic Intracranial Hypertension","authors":"Burcu Çalışkan, A. Canbal, A. Güven, G. Bitirgen, M. Erdi, H. Çaksen","doi":"10.1055/s-0043-1770377","DOIUrl":"https://doi.org/10.1055/s-0043-1770377","url":null,"abstract":"Abstract Idiopathic intracranial hypertension or pseudotumor cerebri syndrome (PTCS) is defined as an increase in intracranial pressure (ICP) without an identifiable and/or structural cause or abnormal cerebrospinal fluid content. The most common symptoms of PTCS include headache, vomiting, pulsatile tinnitus, blurred vision, and diplopia. In 2 to 3% of PTCS patients, severe and rapidly progressive vision loss may develop within 1 month since symptoms begin; this clinical condition is usually defined as fulminant idiopathic intracranial hypertension (FIIH). This study presented a patient admitted to the hospital with headache and blurred vision, who also had high severe acute respiratory syndrome coronavirus 2 infections total antibody level and was treated with a lumboperitoneal shunt due to medical treatment-resistant increased ICP. We also reviewed similar cases previously reported in the literature. To the best of our knowledge, no children affected with coronavirus 2019 related to FIIH and requiring surgical treatment have been yet reported in the literature.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"38 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75056275","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":"The Sacrifice of Ismail by His Father Ibrahim (Alayhi As-Salam): An Example of Surrender for Today's Children and Parents","authors":"H. Çaksen","doi":"10.1055/s-0043-1762922","DOIUrl":"https://doi.org/10.1055/s-0043-1762922","url":null,"abstract":"Ismail (Ishmael) is the son of the Prophet Ibrahim (Abraham, Alayhi As-Salam [AS]), born from his wife, Hajar (Hagar).1 In the Quran, Ismail is mentioned with features such as a docile boy, faithful to his word, patient, surrendering, pleasing in the sight of Allah, commanding salah and zakat, a resul, and a nabi.2,3However, the Quran rejects the belief that Ismail, like Ibrahim, Ishaq (Isaac), Yakub (Jacob), and the Tribes is also Jewish or Christian.4 The story of Ibrahim (AS) sacrificing his son is described in surah As-Saffat of the Quran.3 Herein, we discuss the story of Ismail’s sacrifice by his father from Islamic perspective to draw attention to the importance of spirituality for children with neuromuscular disorders followed in the pediatric intensive care unit (PICU) and their parents. Ibrahim (AS) saw in his dream that he sacrificed his 7year-old son Ismail. He had this dream three nights (tarwiyah, arafah, and eid-al-adha nights) in a row. Dreams of prophets are revelation. So, it was an order of Allah that had to be fulfilled.5,6 He said to Ismail: “My chuck! Take a rope and a big knife. Then, let’s go to the Sabir mountain.” (Also known as Jabal Umm Şabir, this mountain is in Makkah, Saudi Arabia.)7 He never spoke of what his Lord had commanded him. The following conversation took place between Ibrahim (AS) and Ismail on Sabir mountain6:","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"24 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88308177","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 Child with KMT2B-Related Acute-Onset Dystonia: Clinical Pointers to Molecular Diagnosis","authors":"Ankur Singh, S. Sucheta, Abhishek Abhinay, R. Prasad","doi":"10.1055/s-0043-1769476","DOIUrl":"https://doi.org/10.1055/s-0043-1769476","url":null,"abstract":"Abstract Dystonia is common extrapyramidal presentation of neurological problems in childhood. The causes could range from infectious, autoimmune, drug-induced, or genetic in origin. Genetic causes are rare in origin but could masquerade the common causes. Recently, KMT2B-related dystonia has been identified as a common genetic cause of dystonia in childhood. We present a case of a 3.5-year-old with 18 months of follow-up, who was diagnosed with KMT2B-related dystonia and managed with antidystonia drugs to an acceptable level where she could perform her day-to-day work with ease. Here, we highlight certain clinical pointers of the disease and the need of special genetic test in diagnosing such cases. We also tabulated the three previously reported Indian cases and compared their parameter with ours.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"104 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77100985","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":"Efficacy of Cannabidiol in Pediatric Patients: Postmarket Experience at a Single Center","authors":"Sara W. Hovey, J. Jacobson","doi":"10.1055/s-0043-57008","DOIUrl":"https://doi.org/10.1055/s-0043-57008","url":null,"abstract":"Abstract The purpose of this research was to determine the postmarket efficacy and safety of cannabidiol in pediatric patients with Lennox–Gastaut's syndrome (LGS), Dravet's syndrome (DS), and other drug-resistant epilepsy (DRE). This was a single-center, retrospective cohort study in pediatric patients who received prescription cannabidiol at a single center. The primary outcome was the reduction in seizure frequency of all seizure types as measured by the Engel outcome scale at 3 months after initiation of cannabidiol. Thirty-six patients were included. The most common outcome in all three groups was an Engel Class III outcome 3 months following initiation of cannabidiol. Most patients in all groups experienced some clinical benefit and only 33% of patients experienced no clinical benefit. The maximum tolerated dose of cannabidiol at 3 months ranged from 5 to 31 mg/kg/d with a median of 17.9, 13.2, and 18.0 mg/kg/d in the LGS, DS, and DRE (other) groups, respectively. Eight patients discontinued cannabidiol at 3 months and only two patients were hospitalized after initiation of therapy. Seventy-five percent of patients did not report any adverse side effects. Based on the Engel outcome scale utilized within this study, pediatric patients with LGS, DS, and DRE (other) may experience a worthwhile improvement in seizure frequency while on cannabidiol. Further studies are needed to determine the long-term efficacy and safety of cannabidiol and discern predictors of response to therapy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"13 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90967553","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":"Comparison of the Effectiveness of Conventional Physiotherapy Methods and Robot-Assisted Gait Training after Botulinum Toxin Injection of Lower Extremities in Children with Cerebral Palsy: Prospective Randomized Controlled Study","authors":"Ayşe Güç, M. Çebiçci, S. Sütbeyaz, H. Çalış, Hanife Abakay","doi":"10.1055/s-0043-1769737","DOIUrl":"https://doi.org/10.1055/s-0043-1769737","url":null,"abstract":"Abstract There are increasing numbers of studies regarding robot-assisted gait training thanks to technological developments and whether it is superior to conventional physiotherapy methods draws attention. This study aimed to compare the effectiveness of conventional physiotherapy methods and robot-assisted gait training in children with cerebral palsy receiving botulinum toxin injection of lower extremities. A total of 28 patients who were followed up in our clinic and had received botulinum toxin injection of lower extremities in the last month were randomized into two groups in the study. First group received conventional physiotherapy (range of joint motion (ROM), stretching, gait training, etc.), and the other group received robot-assisted gait training. The study population was evaluated pre- and posttreatment regarding their ROM, spasticity, gross motor function, balance, functional independence, and gait analyses. When we look at the responses of the patients before and after treatment, a statistically significant change was observed in all fields when comparing before treatment with after treatment ( p  <  0.05), but there was no statistically significant difference between the groups. We find that both conventional physiotherapy methods and robot-assisted treatments after botulinum toxin injection of lower extremities in children with cerebral palsy were efficient; however, one of both methods was not superior to the other. In addition, further large-scale studies with long-term follow-ups on the comparison of treatment methods are needed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"55 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80196093","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":"Microstructural Changes in Normal-Appearing White Matter in Pediatric X-Linked Adrenoleukodystrophy: A Diffusion Tensor Imaging Study","authors":"H. Cebeci, J. Rykken, F. Ott, Mark Folkertsma, Y. Koksel, M. Gencturk","doi":"10.1055/s-0043-1768473","DOIUrl":"https://doi.org/10.1055/s-0043-1768473","url":null,"abstract":"Abstract Objective  Diffusion tensor imaging (DTI) is an advanced magnetic resonance imaging (MRI) technique that provides quantitative diffusion data of water molecules in tissue. Usage of DTI in pediatric X-linked adrenoleukodystrophy (X-ALD) may adjunct earlier detection of brain involvement. This study aimed to analyze the normal-appearing white matter in pediatric patients with X-ALD using DTI. Materials and Methods  A retrospective database search was performed. Children with genetically diagnosed X-ALDs with a reportedly normal brain MRI between January 2010 and September 2021 were included. Fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD), and apparent diffusion coefficient were serially measured in 8 regions of the brain, and these measurements were compared with those in control patients. Results  The study group included 21 X-ALD patients and 11 control patients. The mean age was 6.64 ± 5.14 years. FA values of the genu and body of the corpus callosum were significantly lower in the ALD group than controls. There was also a statistically significant difference in FA, AD, and RD values of cerebellar white matter in the two groups. Conclusion  There is evidence of white matter damage on DTI in X-ALD patients with the normal-appearing white matter on conventional MRI sequences. The inclusion of DTI in routine MRI examinations of X-ALD patients may provide additional insight into possible white matter damage in that population.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"21 1","pages":"347 - 351"},"PeriodicalIF":0.2,"publicationDate":"2023-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85971152","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":"BRAF Landscape and Its Implications among Patients with Pediatric Low-Grade Gliomas: A Comprehensive Review of the Literature","authors":"M. Fouda","doi":"10.1055/s-0043-1768029","DOIUrl":"https://doi.org/10.1055/s-0043-1768029","url":null,"abstract":"Abstract Low-grade gliomas are the most common intracranial tumor in the pediatric population. Pediatric low-grade gliomas represent a heterogeneous group of tumors. Genetic alterations that result in upregulation of the MAPK/ERK pathway represent most of the genetic landscape of pediatric low-grade gliomas. BRAF-V600E mutant pediatric low-grade gliomas may represent a unique and aggressive subset of tumors that require targeted therapy especially if gross total resection is not feasible. Many patients with pediatric low-grade gliomas have demonstrated successful clinical and radiological responses to BRAF and/or MEK inhibitors. Given the high proportion of patients who fail to respond to the current standard chemotherapy and radiotherapy, these targeted therapies should be considered in future trials and further investigations. In this review of the literature, we summarize the molecular status of BRAF alterations among patients with pediatric low-grade gliomas and provide an update on previous and current BRAF and MEK inhibitors clinical trials.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"88 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76332771","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}