Neuropediatrics最新文献_第8页

Redness in a Squinted Eye: Is that a Clue? 眯着的眼睛发红--这是线索吗？

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-03-22 DOI: 10.1055/a-2293-0207

Aditya Chadda, Pawan Kumar, Anmol Bhatia, Sameer Vyas, Naveen Sankhyan

引用次数: 0

Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom. 青少年癫痫:第一年癫痫发作自由的临床特征和预测因素。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2023-11-23 DOI: 10.1055/a-2217-0336

Jon Soo Kim, Hyewon Woo, Jae Hee Lee, Won Seop Kim

{"title":"Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom.","authors":"Jon Soo Kim, Hyewon Woo, Jae Hee Lee, Won Seop Kim","doi":"10.1055/a-2217-0336","DOIUrl":"10.1055/a-2217-0336","url":null,"abstract":"Background: Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy (AOE) and investigate the predictive factors influencing first-year seizure freedom.Methods: We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and 19 years and who received antiseizure medication (ASM) treatment for at least 12 months.Results: A total of 67 patients were included, with an average age of 13.5 ± 2.3 years at the onset of their first seizure. The average follow-up period was 45.2 ± 16.9 months, and comorbid conditions were present in 23 patients (34.3%). The majority of the patient population (83.6%) was affected by generalized epilepsy. The most common epilepsy syndrome was epilepsy with generalized tonic-clonic seizures alone at 70.1% (juvenile myoclonic epilepsy 11.9%, juvenile absence epilepsy 1.5%). Regarding ASM treatment, 31 patients (46.3%) received monotherapy, and 28 (41.8%) received dual therapy. Five patients (7.5%) encountered issues related to medication adherence. First-year seizure freedom was observed in 42 patients (62.7%). In multivariate analysis, a negative family history of epilepsy (odds ratio 12.1, 95% confidence interval 1.27-115.44, p = 0.030) was identified as a strong predictive factor of first-year seizure freedom, along with ASM monotherapy (odds ratio 3.99, 95% confidence interval 1.05-15.21, p = 0.043).Conclusion: These findings suggest that AOE typically exhibits effective control of seizures. A negative family history of epilepsy and ASM monotherapy emerges as robust predictor of achieving favorable outcomes within the early stage of treatment.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"232-240"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11245328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138299734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anatomic Basis of Neurologic Disease. 神经系统疾病的解剖学基础。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-08-01 Epub Date: 2024-05-22 DOI: 10.1055/s-0044-1786715

Eugen Boltshauser

引用次数: 0

Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis. 儿童脑静脉血栓形成:危险因素和预后。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2023-12-06 DOI: 10.1055/a-2223-6395

Inês Pais-Cunha, Ana I Almeida, Ana R Curval, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa

{"title":"Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis.","authors":"Inês Pais-Cunha, Ana I Almeida, Ana R Curval, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa","doi":"10.1055/a-2223-6395","DOIUrl":"10.1055/a-2223-6395","url":null,"abstract":"Introduction: Cerebral venous thrombosis (CVT) is a rare but potentially fatal disease in pediatric age with an important morbimortality. In adults several factors have been associated with worse outcomes, however there are still few studies in children. This study aims to identify risk factors associated with clinical manifestations and long-term sequelae in pediatric CVT.Methods: Retrospective analysis of pediatric inpatients admitted to a tertiary-care hospital due to CVT between 2008 and 2020.Results: Fifty-four children were included, 56% male, median age of 6.5 years (9 months-17.3 years). Permanent risk factors were identified in 13 patients (malignancy, 8; hematologic condition, 5) and transient risk factors in 47, including head and neck infections (57%) and head trauma (15%). Multiple venous sinuses involvement was present in 65% and the deep venous system was affected in four patients. Seventeen percent had intracranial hemorrhage and 9% cerebral infarction. Sixty-four percent of patients with multiple venous sinuses involvement presented with severe clinical manifestations: impaired consciousness, intracranial hypertension, acute symptomatic seizures or focal deficits. Regarding long-term prognosis, six patients had major sequelae: epilepsy (n = 3), sensory motor deficits (n = 2), and cognitive impairment (n = 3). Permanent risk factors were associated with severe clinical manifestations (p = 0.043). Cerebral infarction and intracranial hemorrhage were associated with major sequelae (p = 0.006 and p = 0.03, respectively, adjusted for age and sex).Conclusion: Permanent risk factors, involvement of multiple venous sinuses, intracranial hemorrhage, and cerebral infarction, were related to worse prognosis. Detection and early management of risk factors may limit CVT extension and reduce its morbimortality.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"183-190"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138499030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy? 神经肌肉视角：为什么颅面外科医生/研究人员需要了解美国本土肌病？

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-02-20 DOI: 10.1055/a-2271-8619

Momen Almomen, Patrick G Burgon

{"title":"Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?","authors":"Momen Almomen, Patrick G Burgon","doi":"10.1055/a-2271-8619","DOIUrl":"10.1055/a-2271-8619","url":null,"abstract":"Congenital myopathy type 13 (CMYO13), also known as Native American myopathy, is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of congenital myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Bloch described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease. The pan-ethnic distribution, as well as its predisposition to malignant hyperthermia, makes the identification of CMYO13 essential to avoid life-threatening, anesthesia-related complications. In this article, we are going to review the clinical phenotype of this disease and the pathophysiology of this rare disease with a focus on two unique features of the disease, namely cleft palate and malignant hyperthermia. We also highlight the importance of recognizing this disease's expanding phenotypic spectrum-including its susceptibility to malignant hyperthermia-and providing appropriate care to affected individuals and families.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"149-155"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139913136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review. TARS2 变体导致联合氧化磷酸化缺陷-21：病例报告和文献综述

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2022-09-23 DOI: 10.1055/a-1949-9310

Xin Gao, Guoyan Xin, Ya Tu, Xiaoping Liang, Huimin Yang, Hong Meng, Yumin Wang

{"title":"TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review.","authors":"Xin Gao, Guoyan Xin, Ya Tu, Xiaoping Liang, Huimin Yang, Hong Meng, Yumin Wang","doi":"10.1055/a-1949-9310","DOIUrl":"10.1055/a-1949-9310","url":null,"abstract":"Objective: The aim of the study is to explore the clinical and genetic characteristics of the combined oxidative phosphorylation defect type 21 (COXPD21) caused by the TARS2 compound heterozygous pathogenic variants, and to improve clinicians' awareness of the disease.Methods: The proband was a girl of first birth, with repeated refractory hypokalemia, hearing impairment, developmental delay, intellectual disability, developmental retardation after infection, high limb muscle tension, and increased serum lactate as the clinical phenotype. The clinical performance, diagnosis, treatment process, and gene characteristics of COXPD21 caused by TARS2 of the case were analyzed, reviewed, and compared with the literature from the CNKI, Wanfang Data, and biomedical literature database (PubMed) until November 2021.Results: The child was diagnosed with COXPD21 after two heterozygous variants in the TARS2 gene were found via whole exome sequencing. One of the variants was c.1679(exon14) A > C (p.Asp560Ala) missense, derived from the mother, and the other was c.1036(exon10)C > T (p.Arg346Cys) missense, derived from the father. The literature was searched and reviewed with the keywords \"mitochondrial encephalomyopathy,\" \"TARS2,\" and \"combination oxidative phosphorylation deficiency type 21.\" A total of four complete domestic and foreign cases were collected from the literature search.Conclusion: COXPD21 onset by a complex heterozygous variant of TARS2 causes refractory hypokalemia, which is rarely reported in China and abroad.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"178-182"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33479872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-02-16 DOI: 10.1055/s-0044-1779619

Momen Almomen, Fawzia Amer, Fatima Alfaraj, Patrick G Burgon, Shahid Bashir, Fouad Alghamdi

{"title":"STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.","authors":"Momen Almomen, Fawzia Amer, Fatima Alfaraj, Patrick G Burgon, Shahid Bashir, Fouad Alghamdi","doi":"10.1055/s-0044-1779619","DOIUrl":"10.1055/s-0044-1779619","url":null,"abstract":"Aim: The study aims to review all the genetically confirmed STAC3-related myopathy being followed in a single center in the Eastern Province of Saudi Arabia.Methodology: A retrospective review of all genetically confirmed STAC3-related myopathy followed in our clinic has been conducted.Results: 7 patients with STAC3-related myopathy have been found in our cohort, with all the patients presenting with infantile hypotonia, myopathic facies, and muscle weakness in the first year of life. Feeding difficulties and failure to thrive were found in all patients except one who died during the neonatal period. Respiratory muscle involvement was also found in 5 out of 6 formally tested patients while cleft palate was found in 5 patients.Conclusion: STAC3-related myopathy is a relatively rare, malignant hyperthermia (MH)--causing muscle disease described in specific, highly consanguineous populations. Making the diagnosis in myopathic patients with cleft palate preoperatively can prevent MH-induced, anesthesia-related perioperative complications.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"166-170"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome. 结节-乳头融合和伴有PHACE综合征的Moya-Moya血管病。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2023-09-16 DOI: 10.1055/a-2177-0358

Leonardo Furtado Freitas, Eduardo Carvalho Miranda, Aline Pimentel Amaro, Eduardo de Oliveira Narvaez, Márcio Luís Duarte

引用次数: 0

Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism-Case Report and Treatment Options. 纤维软骨栓塞导致的脊髓前动脉综合征--病例报告和治疗方案。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2023-05-10 DOI: 10.1055/a-2090-5865

C Menke, I Wieland, E Bueltmann, S Illsinger, H Hartmann

{"title":"Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism-Case Report and Treatment Options.","authors":"C Menke, I Wieland, E Bueltmann, S Illsinger, H Hartmann","doi":"10.1055/a-2090-5865","DOIUrl":"10.1055/a-2090-5865","url":null,"abstract":"Acute occlusion of the anterior spinal artery and subsequent spinal ischemic infarction leads to anterior spinal artery syndrome characterized by back pain and bilateral flaccid paresis with loss of protopathic sensibility. As a rare cause fibrocartilaginous embolism has been described and is associated with sports or unusual strain.Following gymnastic exercise the day before symptom-onset, a 11 years old girl presented with neck pain, paresis of arms and legs, and impaired deep tendon reflexes. She was unable to lift her arms, grasp, stand, walk and had urinary incontinence. Magnetic resonance imaging revealed a longitudinal T2 hyperintense signal in the anterior spinal cord from C3 to C6 with accompanying bilateral diffusion restriction involving gray matter bilaterally at the level of C4 and C5 and unilaterally at the level of C3/4. The adjacent annulus fibrosus of the intervertebral disc showed a fissure without disc protrusion. Treatment with prednisolone and enoxaparin was started within 12 hours of symptom-onset and continued over 6 days and 8 weeks, respectively. After 2 months, her motor function gradually improved, spinal imaging showed persistent T2 signal hyperintense defects at the level of C4/5. After 5 months, there was only slight impairment affecting elevation and abduction of the right arm.Following physical exercise, the patient suffered from acute anterior spinal cord ischemia with imaging findings in line with a presumed fibrocartilaginous embolism. Unlike most cases, our patient showed almost complete recovery following treatment with prednisolone and enoxaparin. We speculate that the positive outcome is related to rapid treatment initiation.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"196-199"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9641818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bilateral Foramina Parietalia Permagna - A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review. Msh Homeobox 2 基因单倍体缺陷导致的双侧椎旁孔畸形：病例报告和最新文献综述。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-03-06 DOI: 10.1055/s-0044-1781465

Niklas Kahl, Natalia Lüsebrink, Susanne Schubert-Bast, Thomas M Freiman, Matthias Kieslich

引用次数: 0