Journal of the International Child Neurology Association最新文献_第3页

A clinician's approach to brain malformations 临床医生治疗脑畸形的方法

Journal of the International Child Neurology Association Pub Date : 2019-05-28 DOI: 10.17724/JICNA.2018.120

A. Jansen

引用次数: 0

Diagnosing neurodegeneration with brain iron accumulation before iron starts to accumulate 在铁开始积累之前用脑铁积累诊断神经变性

Journal of the International Child Neurology Association Pub Date : 2019-03-01 DOI: 10.17724/JICNA.2018.117

I. Hoogwijs

{"title":"Diagnosing neurodegeneration with brain iron accumulation before iron starts to accumulate","authors":"I. Hoogwijs","doi":"10.17724/JICNA.2018.117","DOIUrl":"https://doi.org/10.17724/JICNA.2018.117","url":null,"abstract":"Introduction \u0000Neurodegeneration with brain iron accumulation (NBIA) consists of a heterogeneous group of disorders with brain iron accumulation as common radiological endpoint. Mutations in multiple genes have been associated with NBIA. We present 2 cases with a different type of NBIA, in whom the diagnosis was confirmed before brain iron accumulation became evident on MRI. \u0000 Case description \u0000The first patient was referred because of frequent falls at the age of 4 years. She had an ataxic gait and weak Achilles tendon reflexes. Two years later, pyramidal and more prominent cerebellar signs became evident. A skin and muscle biopsy revealed intra-axonal spheroids in the peri-and endomysial myelinated nerve bundles as well as in the motor endplates, which led to the diagnosis of PLA2G6-associated neurodegeneration (PLAN). Brain iron accumulation occurred at follow-up MRI at 9 years of age. \u0000The second patient was referred because of developmental stagnation and detection of elevated liver enzymes at 3 months of age. Seizures started at 15 months of age, and were refractory to treatment with multiple anti-epileptic drugs. Molecular genetic testing using an epilepsy gene panel revealed a mutation in the WDR45 gene, a known cause of beta-propeller protein-associated neurodegeneration (BPAN). Brain MRI at 14 months of age showed diffuse hypomyelination in the absence of BIA. \u0000 Discussion \u0000This report highlights that NBIA can be suspected on a clinical basis and confirmed by genetic testing before iron accumulation becomes present on brain MRI. Early diagnosis will provide a longer timeframe for potential disease modulating treatments in the future.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130820322","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: 1

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in a child with ataxia and diplopia 共济失调和复视儿童的临床轻度脑炎/脑病伴可逆性脾损害(MERS)

Journal of the International Child Neurology Association Pub Date : 2019-02-21 DOI: 10.17724/JICNA.2018.99

E. Os, Malou Nijhuis, S. Malm

{"title":"Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in a child with ataxia and diplopia","authors":"E. Os, Malou Nijhuis, S. Malm","doi":"10.17724/JICNA.2018.99","DOIUrl":"https://doi.org/10.17724/JICNA.2018.99","url":null,"abstract":"We report the case of a 15-year-old boy with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). He presented with diplopia and ataxia and his cerebrospinal fluid showed mild pleocytosis and elevated protein. MRI demonstrated a reversible splenial lesion in the corpus callosum. He did not receive any treatment and recovered quickly within two weeks. Results of neurological examination after 3 months were completely normal. MERS is relatively unknown in Europe. The majority of patients are reported in East Asia. This post-infectious encephalitis/encephalopathy arises soon after the onset of symptoms. The prognosis is excellent and most patients recover completely without neurological sequelae. MRI typically shows a reversible splenial lesion with diffusion restriction and without contrast enhancement, sometimes with adjacent symmetrical lesions extending into the subcortical white matter. The pathogenesis is still unknown. Recognition of the condition and its clinic-radiological discrimination from acute disseminated encephalomyelitis may prevent unnecessary treatment.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123537214","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

Valproate-induced reversible atrophy and cognitive decline: a case 丙戊酸盐诱导的可逆性萎缩和认知能力下降1例

Journal of the International Child Neurology Association Pub Date : 2019-02-18 DOI: 10.17724/JICNA.2018.118

E. Innes, Alexandra M. Johnson

{"title":"Valproate-induced reversible atrophy and cognitive decline: a case","authors":"E. Innes, Alexandra M. Johnson","doi":"10.17724/JICNA.2018.118","DOIUrl":"https://doi.org/10.17724/JICNA.2018.118","url":null,"abstract":"Background: Valproate (VPA) has been previously described to cause reversible cerebral atrophy and cognitive decline, but few cases are reported and neuropsychological data is lacking. We report a case of VPA induced encephalopathy in an 11-year-old girl with temporal lobe epilepsy, presenting with impaired cognition and sedation combined with cerebral atrophy. \u0000Methods: Cognitive capacity was assessed using Wechsler Intelligence Scales for Children IV (WISC), non-standardised word lists and visual reproduction. Brain magnetic resonance imaging (MRI) was performed prior to, during and post VPA therapy. \u0000Results: Our patient demonstrated average full-scale intelligence quotient, verbal comprehension, perceptual reasoning and working memory. There was a marked discrepancy in processing speed, which ranked low average (score – 80; 9th percentile). Difficulties with mental abstraction and manipulation were noted. Brain MRI (3T) demonstrated mild generalised parenchymal atrophy. Cessation of VPA resulted in dramatic improvement in clinical symptoms (1 month after cessation) and normalisation of brain MRI (11 months after cessation). Progress neuropsychological testing 13 months after cessation showed marked improvements in processing speed. \u0000Conclusion: This case provides an important reminder of this rare but importantly reversible syndrome with new information supporting the neuropsychological changes involved.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126457303","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

The association between human herpes viruses and acute symptomatic seizures in Kenyan children 人类疱疹病毒与肯尼亚儿童急性症状性癫痫之间的关系

Journal of the International Child Neurology Association Pub Date : 2019-02-18 DOI: 10.17724/JICNA.2018.64

S. Kariuki, C. Schubart, C. Newton

{"title":"The association between human herpes viruses and acute symptomatic seizures in Kenyan children","authors":"S. Kariuki, C. Schubart, C. Newton","doi":"10.17724/JICNA.2018.64","DOIUrl":"https://doi.org/10.17724/JICNA.2018.64","url":null,"abstract":"Background \u0000In malaria endemic areas, where up to 70% of children have peripheral parasitaemia, it is unclear why some children develop seizures. Human herpes viruses are common causes of febrile seizures. We investigated the hypothesis that seizures in children admitted to hospital are caused by concomitant human herpes virus infections. \u0000Methods \u0000We examined the presence of parasitaemia in plasma and viruses in cerebrospinal fluid (CSF) of 100 children with acute symptomatic seizures (84% with complex acute symptomatic seizures (focal, repetitive or prolonged)) and in 45 children without seizures using polymerase chain reaction. The analysis compared the distribution of human herpes virus between children with acute symptomatic seizures and those without these seizures by computing odds ratios using a logistic regression accounted for potential confounders. \u0000Results \u0000Human herpes viruses 6 & 7 were found in the CSF of 22% of children with acute symptomatic seizures and in 24% of those without seizures, and overall, there was no association with acute symptomatic seizures ((adjusted odds ratio (OR)=1.48 (95%CI, 0.54-4.05), p=0.448) nor complex acute symptomatic seizures (OR=2.34 (95%CI, 0.92-5.97), p=0.075). Human herpes virus 7 was significantly associated with complex acute symptomatic seizures (OR=8.80 (95%CI, 1.20-64.84), p=0.033), while herpes virus 6 was not (OR=1.71 (95%CI, 0.55-5.30), p=0.351). The logistic regression model with significant association for human herpes virus 7 and complex acute symptomatic seizures accounted for falciparum malaria, malnutrition and CSF protein levels, whose inclusion effect modified the OR of a baseline model by 81%. \u0000Conclusions \u0000Human herpes virus 7 but not 6 is associated with common complex acute symptomatic seizures in a malaria endemic area in Kenya. Viruses should be screened in children admitted with acute symptomatic seizures.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133645058","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

Lyme Disease or Multiple Sclerosis? Two cases with overlapping features. 莱姆病还是多发性硬化症?两个具有重叠特征的案例。

Journal of the International Child Neurology Association Pub Date : 2019-02-18 DOI: 10.17724/JICNA.2018.112

K. Kotulska-Jóźwiak, I. Pacheva, A. Patrova, E. Jurkiewicz, I. Ivanov, D. Kuczyński, I. Geneva

{"title":"Lyme Disease or Multiple Sclerosis? Two cases with overlapping features.","authors":"K. Kotulska-Jóźwiak, I. Pacheva, A. Patrova, E. Jurkiewicz, I. Ivanov, D. Kuczyński, I. Geneva","doi":"10.17724/JICNA.2018.112","DOIUrl":"https://doi.org/10.17724/JICNA.2018.112","url":null,"abstract":"Background, The etiology of multiple sclerosis is unclear and infectious agents have been considered. Borrelia infections can cause an intrathecal inflammatory response with accompanying cerebral and spinal imaging findings. \u0000Cases. Two children with acute or subacute initial neurological presentation, subsequent relapsing course, and MR imaging features suggestive of multiple sclerosis are presented. A history of tick bite or dramatic response to antibiotic treatment supported Lyme disease in the beginning, but requirement of disaese-modifying treatment later in the course supported multiple sclerosis. \u0000Results. These cases carrying features supportive of both multiple sclerosis and Lyme disease caused clinical dilemma and were treated for both disorders. Borrelia-specific IgG index testing before any treatment could have prevented the difficulty in differential diagnosis. \u0000Conclusions. Clinical, imaging and CSF findings of multiple sclerosis and acute or chronic progressive borrelia encephalomyelitis may overlap and testing for Borrelia-specific intrathecal antibody synthesis should not be omitted in endemic areas.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121546879","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

The use of the ketogenic diet in the treatment of epileptic encephalopathies 生酮饮食在癫痫性脑病治疗中的应用

Journal of the International Child Neurology Association Pub Date : 2018-11-12 DOI: 10.17724/JICNA.2018.66

R. Caraballo

{"title":"The use of the ketogenic diet in the treatment of epileptic encephalopathies","authors":"R. Caraballo","doi":"10.17724/JICNA.2018.66","DOIUrl":"https://doi.org/10.17724/JICNA.2018.66","url":null,"abstract":"Epileptic encephalopathies(EE) are severe conditions characterized by paroxysmal activity on the electroencephalogram (EEG) that is often aggressive, seizures that are commonly multi-form and intractable, and severe cognitive and behavioral disturbances that present or worsen after the onset of epilepsy. The ketogenic diet (KD) has been shown to be effective in the treatment of refractory epileptic encephalopathies, and has been suggested as an early treatment option in very young children. \u0000Although the experience is often anecdotal and mostly consists of case reports and case series, the aim of this study was to present our own experience and an overview of the current literature on the diet in patients with EE. \u0000Some encephalopathies, such as epilepsy with myoclonic and atonic seizures, West syndrome, Dravet syndrome, or Lennox-Gastaut syndrome, are well recognized and known to have a good response to the ketogenic diet, while others are more rare or only recently identified, such as epilepsy with focal migrating seizures in infancy, febrile infection-related epilepsy syndrome, or myclonic status in non-progressive encephalopathy, about which little is known and the KD is only tried in sporadic cases. \u0000EE are typically refractory to the antiepileptic drugs and the KD should be considered earlier in the therapeutic scheme of these severe epileptic syndromes. The KD including the oral formula may be considered in all pediatric patients with EE even in infancy.","PeriodicalId":240484,"journal":{"name":"Journal of the International Child Neurology Association","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130050608","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: 6

Febrile encephalopathy 发热性脑病

Journal of the International Child Neurology Association Pub Date : 2018-11-12 DOI: 10.17724/jicna.2018.11

P. Singhi, N. Sankhyan

引用次数: 0

Position statement by the ICNA in Support of vaccinating all children against measles virus 国际医学会关于支持为所有儿童接种麻疹病毒疫苗的立场声明

Journal of the International Child Neurology Association Pub Date : 1900-01-01 DOI: 10.17724/jicna.2020.188

P. Samia, Sylvia Tenembaum, A. Hegde, R. Idro, J. Wilmshurst

引用次数: 0

Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report Alpers和mngi样疾病伴脑脊液叶酸转运紊乱和POLG突变的不寻常遗传传递模式:1例报告

Journal of the International Child Neurology Association Pub Date : 1900-01-01 DOI: 10.17724/jicna.2020.216

R. Korinthenberg, J. Kirschner, M. Eckenweiler, R. Steinfeld, N. Tatishvili, R. Horvath, S. Kleinle, A. Abicht

引用次数: 1