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Neonatal Encephalopathies: A Clinical Perspective.新生儿脑病:临床视角
Cureus. 2019 Jun 19;11(6):e4948. doi: 10.7759/cureus.4948.
2
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Neonatal seizures.新生儿惊厥
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CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.脑脊液5-甲基四氢叶酸连续监测以指导质子偶联叶酸转运体(PCFT)缺乏所致先天性叶酸吸收不良的治疗。
JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.
2
Neonatal seizures: advances in mechanisms and management.新生儿惊厥:发病机制与治疗进展
Clin Perinatol. 2014 Mar;41(1):177-90. doi: 10.1016/j.clp.2013.10.004. Epub 2013 Dec 12.
3
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.通过全外显子组测序在一名患有新生儿癫痫性脑病、多种先天性异常和运动障碍的男孩中鉴定出的新发SCN8A突变。
J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18.
4
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.胍乙酸甲基转移酶(GAMT)缺乏症:48例患者的预后及诊断、治疗和监测建议
Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7.
5
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.CHD2 基因新生致病变异导致一种热性敏感性肌阵挛癫痫性脑病,与 Dravet 综合征具有共同特征。
Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
6
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.抗衰素缺乏致吡哆醇依赖性癫痫:获得良好结局。
Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610.
7
A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.一名患有癫痫性脑病且具有非典型电临床模式的儿童中STXBP1基因的一种新突变。
J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29.
8
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.吡哆醇依赖性癫痫的早期诊断:视频脑电图监测及生化和遗传学研究。
Eur J Paediatr Neurol. 2013 Nov;17(6):676-80. doi: 10.1016/j.ejpn.2013.06.005. Epub 2013 Jul 31.
9
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.由ALDH7A1突变引起的吡哆醇依赖性癫痫患者的正常血浆哌可酸水平。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):197. doi: 10.1016/j.ymgme.2013.04.018. Epub 2013 Apr 30.
10
Malignant migrating partial seizures in infancy.婴儿期恶性迁移性部分性癫痫发作
Handb Clin Neurol. 2013;111:605-9. doi: 10.1016/B978-0-444-52891-9.00062-2.

新生儿脑病:临床视角

Neonatal Encephalopathies: A Clinical Perspective.

作者信息

Andrade Edgar, Chavez Wilson, Shaikh Zakir I, Torres Alcy R

机构信息

Pediatric Neurology, Institute of Pediatric Neurosciences of Florida, Ocala, USA.

Radiology, Boston Medical Center, Boston, USA.

出版信息

Cureus. 2019 Jun 19;11(6):e4948. doi: 10.7759/cureus.4948.

DOI:10.7759/cureus.4948
PMID:31453022
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6701909/
Abstract

Seizures are the most acute evident manifestation of central nervous system dysfunction in neonates. The incidence is higher in very low weight neonates, about 58/100 live births, as opposed to full-term infants, estimated about 3.5/100 live births. Neonatal seizures represent the clinical manifestation of a non-specific disorder of cortical cerebral dysfunction, which could lead to permanent brain injury. The etiology is multifactorial and requires a judicious assessment of each clinical scenario. The diagnosis and its management are further complicated as most neonatal seizures may have very subtle or no clinical changes and the diagnosis may be just based on EEG findings, so-called subclinical. The treatment is dependent on the etiology, but early and opportune intervention can prevent further brain damage and improve prognosis. Although early identification and treatment are essential, the diagnosis of neonatal seizures can be further complicated by the clinical presentations, possible etiologies, and treatments. Nevertheless, research studies and clinical evidence have shown that early treatment with anti-seizure medications can change the outcome.

摘要

惊厥是新生儿中枢神经系统功能障碍最明显的急性表现。极低体重新生儿的发病率较高,约为每100例活产中有58例,而足月儿的发病率估计约为每100例活产中有3.5例。新生儿惊厥是皮质脑功能非特异性障碍的临床表现,可导致永久性脑损伤。病因是多因素的,需要对每个临床情况进行审慎评估。由于大多数新生儿惊厥可能只有非常细微的临床变化或没有临床变化,诊断可能仅基于脑电图结果,即所谓的亚临床惊厥,因此诊断及其管理更加复杂。治疗取决于病因,但早期和适时的干预可以预防进一步的脑损伤并改善预后。虽然早期识别和治疗至关重要,但新生儿惊厥的诊断可能会因临床表现、可能的病因和治疗而更加复杂。然而,研究和临床证据表明,早期使用抗惊厥药物治疗可以改变结局。