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Corrigendum to "Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation". 难治性杰文斯综合征从出生症状到 PLCB1 基因突变 "的更正。
Child neurology open Pub Date : 2024-08-30 eCollection Date: 2024-01-01 DOI: 10.1177/2329048X241279557
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引用次数: 0
Recurrent Spinal Arteriovenous Malformations in a Patient with Cobb Syndrome. 一名柯布综合征患者的复发性脊髓动静脉畸形。
Child neurology open Pub Date : 2024-04-04 eCollection Date: 2024-01-01 DOI: 10.1177/2329048X231225305
Nicholas Mulchan, Mekka R Garcia, John T Wells
{"title":"Recurrent Spinal Arteriovenous Malformations in a Patient with Cobb Syndrome.","authors":"Nicholas Mulchan, Mekka R Garcia, John T Wells","doi":"10.1177/2329048X231225305","DOIUrl":"10.1177/2329048X231225305","url":null,"abstract":"<p><p>Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"11 ","pages":"2329048X231225305"},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11097694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066203","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
Mercury Induced Autoimmunity: A Case of CASPR2/LGI1 Autoimmune Encephalitis in a 14-Month-old 汞诱导的自身免疫：一例 14 个月大的 CASPR2/LGI1 自身免疫性脑炎病例
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x241227347
Ariel Heller, Krystal Nolan, Salvatore Rametta
{"title":"Mercury Induced Autoimmunity: A Case of CASPR2/LGI1 Autoimmune Encephalitis in a 14-Month-old","authors":"Ariel Heller, Krystal Nolan, Salvatore Rametta","doi":"10.1177/2329048x241227347","DOIUrl":"https://doi.org/10.1177/2329048x241227347","url":null,"abstract":"Contactin-associated protein-like 2 (CASPR2) autoantibodies are among those associated with several syndromes with effects on both the central and peripheral nervous systems including neuropathy and encephalitis and is most commonly seen in middle-aged to elderly males. We present a case of autoimmune encephalitis in a 14-month-old female presenting with altered mental status, refusal to bear weight, and hypertension in the setting of mercury exposure. This is the youngest reported case of CASPR2/LGI1/VGKC antibody associated autoimmune encephalitis stimulated by mercury exposure.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"15 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140519906","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}
引用次数: 0
A Farewell to Child Neurology Open 告别儿童神经学公开课
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x241231391
Alison L Christy
{"title":"A Farewell to Child Neurology Open","authors":"Alison L Christy","doi":"10.1177/2329048x241231391","DOIUrl":"https://doi.org/10.1177/2329048x241231391","url":null,"abstract":"","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"7 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140521807","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}
引用次数: 0
Retraction Notice - Early Identification of DMD in the Setting of West Syndrome. Child Neurology Open. 撤稿通知--在韦斯特综合征的背景下早期识别 DMD。儿童神经病学公开课》。
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x241241207
{"title":"Retraction Notice - Early Identification of DMD in the Setting of West Syndrome. Child Neurology Open.","authors":"","doi":"10.1177/2329048x241241207","DOIUrl":"https://doi.org/10.1177/2329048x241241207","url":null,"abstract":"","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"118 1-2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140517389","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}
引用次数: 0
A Severe Case of Streptococcus pneumoniae Meningoencephalitis in an Infant Resulting in Fatal Strokes 婴儿肺炎链球菌脑膜脑炎导致致命中风的严重病例
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x241227341
Michelle Goodman, Mekka R. Garcia, Heidy Wang, Maria J. Borja, Claire Miller, Devorah Segal
{"title":"A Severe Case of Streptococcus pneumoniae Meningoencephalitis in an Infant Resulting in Fatal Strokes","authors":"Michelle Goodman, Mekka R. Garcia, Heidy Wang, Maria J. Borja, Claire Miller, Devorah Segal","doi":"10.1177/2329048x241227341","DOIUrl":"https://doi.org/10.1177/2329048x241227341","url":null,"abstract":"Streptococcus pneumoniae (S. Pneumoniae) is a common cause of bacterial meningitis in the pediatric population, but rarely causes complications such as encephalitis, abscess, and seizures with the prompt initiation of proper antimicrobial therapy. In this report, we present a rare and severe case of S. Pneumoniae meningoencephalitis in a full term 6-month-old which progressed to multiple cerebral and cerebellar infarcts with concomitant cerebellar tonsillar herniation and hypercarbic respiratory failure requiring intubation and mechanical ventilation despite early initiation of antibiotics. Given the patient's clinical status and poor neurological prognosis, the family eventually opted for palliative extubation.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"31 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139540355","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}
引用次数: 0
“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy "哦，我熟睡的孩子"......一名 22 个月大男孩的 1 型嗜睡症
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x231225916
Barbra Giourgas, Alexandra Morgan, Sonal Bhatia
{"title":"“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy","authors":"Barbra Giourgas, Alexandra Morgan, Sonal Bhatia","doi":"10.1177/2329048x231225916","DOIUrl":"https://doi.org/10.1177/2329048x231225916","url":null,"abstract":"Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"90 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139454413","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}
引用次数: 0
Cortical Hand Knob Paradoxical Thromboembolic Stroke in an Adolescent with Secundum Atrial Septal Defect and Paget-Schroetter Syndrome 患有房间隔缺损和帕吉特-施罗特综合征的青少年皮质手钮悖论性血栓栓塞性中风
Child neurology open Pub Date : 2024-01-01 DOI: 10.1177/2329048x231225314
M. Parfyonov, Danielle Porritt, Dakota Peacock, Ryan Dragoman, James Lee
{"title":"Cortical Hand Knob Paradoxical Thromboembolic Stroke in an Adolescent with Secundum Atrial Septal Defect and Paget-Schroetter Syndrome","authors":"M. Parfyonov, Danielle Porritt, Dakota Peacock, Ryan Dragoman, James Lee","doi":"10.1177/2329048x231225314","DOIUrl":"https://doi.org/10.1177/2329048x231225314","url":null,"abstract":"Venous thoracic outlet syndrome (vTOS) is an increasingly recognized diagnosis in young patients in which the subclavian vein is compressed within the costoclavicular space. With repetitive compression, thrombosis can develop and has been referred to as “effort thrombosis” or the Paget-Schroetter syndrome. Here, we present a 16-year-old boy with vTOS who presented with acute ischemic stroke (AIS) in the hand knob region of precentral gyrus due to paradoxical embolus in the setting of atrial septal defect.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"19 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139457640","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}
引用次数: 0
Approaching Autism Diagnosis and Care Through the Lens of Gender Diversity. 从性别多样性的角度看待自闭症的诊断和护理。
Child neurology open Pub Date : 2023-12-17 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231219201
Margaret Goss, Carolyn K Huynh, Matthew Taing, Audrey C Brumback
{"title":"Approaching Autism Diagnosis and Care Through the Lens of Gender Diversity.","authors":"Margaret Goss, Carolyn K Huynh, Matthew Taing, Audrey C Brumback","doi":"10.1177/2329048X231219201","DOIUrl":"10.1177/2329048X231219201","url":null,"abstract":"","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231219201"},"PeriodicalIF":0.0,"publicationDate":"2023-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10729615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812956","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
Prevalence & Risk Factors for Perinatal Stroke: A Population-Based Study. 围产期中风的发病率和风险因素：基于人口的研究。
Child neurology open Pub Date : 2023-12-17 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231217691
Bithi Roy, Annabel Webb, Karen Walker, Catherine Morgan, Nadia Badawi, Carlos Nunez, Guy Eslick, Alison L Kent, Rod W Hunt, Mark T Mackay, Iona Novak
{"title":"Prevalence & Risk Factors for Perinatal Stroke: A Population-Based Study.","authors":"Bithi Roy, Annabel Webb, Karen Walker, Catherine Morgan, Nadia Badawi, Carlos Nunez, Guy Eslick, Alison L Kent, Rod W Hunt, Mark T Mackay, Iona Novak","doi":"10.1177/2329048X231217691","DOIUrl":"10.1177/2329048X231217691","url":null,"abstract":"<p><strong>Objectives: </strong>The study objective was to calculate the birth prevalence of perinatal stroke and examine risk factors in term infants. Some risk factors are present in healthy infants, making it difficult to determine at-risk infants.</p><p><strong>Study design: </strong>Prospective population-based perinatal stroke data were compared to the Australian general population data using chi-squared and Fisher's exact tests and multivariable logistic regression analysis.</p><p><strong>Results: </strong>Sixty perinatal stroke cases were reported between 2017 and 2019. Estimated stroke prevalence was 9.6/100,000 live births/year including 5.8 for neonatal arterial ischemic stroke and 2.9 for neonatal hemorrhagic stroke. Eighty seven percent had multiple risk factors. Significant risk factors were cesarean section (<i>p</i> = 0.04), 5-min Apgar score <7 (<i>p</i> < 0.01), neonatal resuscitation (<i>p</i> < 0.01) and nulliparity (<i>p</i> < 0.01).</p><p><strong>Conclusions: </strong>Statistically significant independent risk factors do not fully explain the cause of perinatal stroke, because they are not a direct causal pathway to stroke. These data now require validation in a case-control study.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"10 ","pages":"2329048X231217691"},"PeriodicalIF":0.0,"publicationDate":"2023-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10729630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813329","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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