Li Guyu, Amilhamja Anissa, Lao Shariadne, Huckabee Mary
{"title":"Wernicke Encephalopathy in a Non-Alcoholic Obese Adolescent: A Case Report","authors":"Li Guyu, Amilhamja Anissa, Lao Shariadne, Huckabee Mary","doi":"10.36959/595/446","DOIUrl":"https://doi.org/10.36959/595/446","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":" 1267","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135957","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}
Danan Victoria, Fridman Sabina, L. Christine, Basit Areeba
{"title":"Unusual Diagnosis and Extended Management of Chronic Inflammatory Demyelinating Polyneuropathy in an Unimmunized Patient","authors":"Danan Victoria, Fridman Sabina, L. Christine, Basit Areeba","doi":"10.36959/595/443","DOIUrl":"https://doi.org/10.36959/595/443","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"127 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117267910","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":"Treatment of Bi-Allelic PRRT-2 Mutation Associated Ataxia and Paroxysmal Dyskinesia","authors":"Shiswawala Naini, P. Sumit","doi":"10.36959/595/442","DOIUrl":"https://doi.org/10.36959/595/442","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"404 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116076925","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}
Tester Matthew A, Parfyonov Maksim, W. Paul, Datta Anita N
{"title":"Reversible Cerebral Vasoconstriction Syndrome following Exchange Transfusion and Steroids in a Child with Sickle Cell Disease: A Case Report","authors":"Tester Matthew A, Parfyonov Maksim, W. Paul, Datta Anita N","doi":"10.36959/595/444","DOIUrl":"https://doi.org/10.36959/595/444","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"181 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133697098","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":"Treatment of COVID Encephalitis in Pediatric Patient with IVIG","authors":"Collins Joseph, Jamalian Ali","doi":"10.36959/595/441","DOIUrl":"https://doi.org/10.36959/595/441","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123558526","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}
Woodward Kristine Elizabeth, Esser Michael Joachim, Gallagher Clare Naomi
Introduction: Pressure reactivity index (PRx) is a measure used to gain insights into cerebrovascular reactivity. It is generally used in acute settings such as traumatic brain injury and subarachnoid hemorrhage, however there is limited data on its utility in cases of slow compensatory changes in intracranial pressure such as craniocerebral disproportion. Here we illustrate a case of how PRx can provide valuable information in such settings. Case presentation: PRx was measured in a 10-year-old boy who presented with multiple cranioneuropathies, found to have craniocerebral disproportion and secondary compression of posterior fossa structures. He was taken to surgery for decompressive craniotomy and cranial expansion procedure. He had an acute worsening in PRx, with a slow stabilization over the following days. Conclusion: This case highlights the importance of monitoring individualized PRx curves, and that autoregulatory curves are not constant between individuals or within same individuals over time. Acute iatrogenic interventions could lead to poor neurological consequences, due to interruption of a chronically compensated state.
{"title":"It's a Bit Crowded in Here: Examining Pressure Reactivity in Craniocerebral Disproportion","authors":"Woodward Kristine Elizabeth, Esser Michael Joachim, Gallagher Clare Naomi","doi":"10.36959/595/440","DOIUrl":"https://doi.org/10.36959/595/440","url":null,"abstract":"Introduction: Pressure reactivity index (PRx) is a measure used to gain insights into cerebrovascular reactivity. It is generally used in acute settings such as traumatic brain injury and subarachnoid hemorrhage, however there is limited data on its utility in cases of slow compensatory changes in intracranial pressure such as craniocerebral disproportion. Here we illustrate a case of how PRx can provide valuable information in such settings. Case presentation: PRx was measured in a 10-year-old boy who presented with multiple cranioneuropathies, found to have craniocerebral disproportion and secondary compression of posterior fossa structures. He was taken to surgery for decompressive craniotomy and cranial expansion procedure. He had an acute worsening in PRx, with a slow stabilization over the following days. Conclusion: This case highlights the importance of monitoring individualized PRx curves, and that autoregulatory curves are not constant between individuals or within same individuals over time. Acute iatrogenic interventions could lead to poor neurological consequences, due to interruption of a chronically compensated state.","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121651848","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 Novel PPP2CA Gene Variant Presenting with Dystonia and Progressive Brain Atrophy","authors":"E. Cheng, J. Cobben, N. Ismayilova","doi":"10.36959/595/439","DOIUrl":"https://doi.org/10.36959/595/439","url":null,"abstract":"","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129477125","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}
‘Spinal Cord Injury Without Neuroimaging Abnormality’ (SCIWNA) is a clinico-radiological entity characterized by clinical markers of traumatic myelopathy without neuroimaging evidence of spinal instability or fracture, which is being increasingly recognized among children with the growing application of Magnetic Resonance Imaging (MRI). A child with SCIWNA is being reported to sensitize clinicians about this entity and to highlight the key aspects that aid in its early diagnosis and effective management. but did not have any urinary symptoms. There was no history suggestive of facial or upper limbs weakness, seizures, altered sensorium, vomiting, feeding or breathing difficulty. On examination, child was irritable but consolable and oriented to parents. His vital parameters were normal. Examination of nerves and upper was unremarkable. lower were maintained in an attitude of with absent spontaneous movements.
{"title":"Pediatric Spinal Cord Injury without Neuroimaging Abnormality (SCIWNA): A Clinico-Radiological Conundrum","authors":"Rana Kamer Singh, Goswami Jyotindra Narayan, Sareen Dinesh","doi":"10.36959/595/432","DOIUrl":"https://doi.org/10.36959/595/432","url":null,"abstract":"‘Spinal Cord Injury Without Neuroimaging Abnormality’ (SCIWNA) is a clinico-radiological entity characterized by clinical markers of traumatic myelopathy without neuroimaging evidence of spinal instability or fracture, which is being increasingly recognized among children with the growing application of Magnetic Resonance Imaging (MRI). A child with SCIWNA is being reported to sensitize clinicians about this entity and to highlight the key aspects that aid in its early diagnosis and effective management. but did not have any urinary symptoms. There was no history suggestive of facial or upper limbs weakness, seizures, altered sensorium, vomiting, feeding or breathing difficulty. On examination, child was irritable but consolable and oriented to parents. His vital parameters were normal. Examination of nerves and upper was unremarkable. lower were maintained in an attitude of with absent spontaneous movements.","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125294679","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}
Background: COL4A1 mutations can mimic TORCH infections and should be considered in the differential of congenital infections, especially when additional neuroanatomical abnormalities exist. Case presentation: A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel COL4A1 mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature. Conclusions: This case highlights the neuroanatomical and extra cranial features of COL4A1 mutation which helps differentiate the condition from other related diseases. This report suggests that COL4A1 should be considered in a child with intracranial and ocular abnormalities, particularly in the absence of a perinatal etiology.
{"title":"Intracranial Calcifications and Ocular Abnormalities in a Child with Neurodevelopmental Delay","authors":"Rajaprakash Meghna, Heymans Jessica, Sell Erick","doi":"10.36959/595/431","DOIUrl":"https://doi.org/10.36959/595/431","url":null,"abstract":"Background: COL4A1 mutations can mimic TORCH infections and should be considered in the differential of congenital infections, especially when additional neuroanatomical abnormalities exist. Case presentation: A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel COL4A1 mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature. Conclusions: This case highlights the neuroanatomical and extra cranial features of COL4A1 mutation which helps differentiate the condition from other related diseases. This report suggests that COL4A1 should be considered in a child with intracranial and ocular abnormalities, particularly in the absence of a perinatal etiology.","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"601 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132828919","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}
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