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线粒体脑肌病伴乳酸血症和卒中样发作病例中的持续性部分性癫痫:临床与神经生理学研究

Epilepsia partialis continua in a case of MELAS: clinical and neurophysiological study.

作者信息

Veggiotti P, Colamaria V, Dalla Bernardina B, Martelli A, Mangione D, Lanzi G

机构信息

Divisione di Neuropsichiatria Infantile, Fondazione Istituto Neurologico C Mondino IRCCS, Pavia, Italy.

出版信息

Neurophysiol Clin. 1995;25(3):158-66. doi: 10.1016/0987-7053(96)80168-7.

DOI:10.1016/0987-7053(96)80168-7
PMID:8524210
Abstract

There are few reports in the literature dealing with the association between mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and epilepsia partialis continua (EPC) in children. We report the case of a child presenting with numerous stroke-like episodes associated with EPC which, despite therapy, were not controlled and aggravated the clinical condition of our patient. We present the neuroradiological, biochemical, genetic and muscle biopsy findings, and EEG characteristics, with attention to polygraphic recordings which were done during wake and sleep periods. We consider the correlation with other possible etiological factors relating to EPC and in particular coinvolvement of the basal ganglia as a cause of EPC in our patient.

摘要

文献中很少有关于儿童线粒体肌病、脑病、乳酸性酸中毒和卒中样发作(MELAS)与持续性部分性癫痫(EPC)之间关联的报道。我们报告了一例患有大量与EPC相关的卒中样发作的儿童病例,尽管进行了治疗,但发作未得到控制,且加重了患者的临床状况。我们展示了神经放射学、生化、遗传学和肌肉活检结果以及脑电图特征,尤其关注了在清醒和睡眠期间进行的多导记录。我们考虑了与EPC其他可能病因的相关性,特别是基底神经节受累作为我们患者EPC病因的情况。

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引用本文的文献

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Visual memory failure presages conversion to MELAS phenotype.视觉记忆障碍预示着向 MELAS 表型的转变。
Ann Clin Transl Neurol. 2022 Jun;9(6):841-852. doi: 10.1002/acn3.51564. Epub 2022 May 6.
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Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.线粒体疾病:临床诊断、管理、治疗进展及预防策略
Curr Genet Med Rep. 2018 Jun;6(2):62-72. doi: 10.1007/s40142-018-0138-9. Epub 2018 May 2.
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Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations.
线粒体功能障碍中的持续性部分性癫痫:有趣的表型和MRI观察结果。
Ann Indian Acad Neurol. 2008 Jul;11(3):193-6. doi: 10.4103/0972-2327.42942.
4
Epilepsia partialis continua possibly caused by cerebellar lesion.癫痫持续状态可能由小脑病变引起。 (注:这里原文表述有误,正确的术语应该是“癫痫性部分性持续状态”,英文是“Epilepsia partialis continua” ,翻译应遵循医学术语规范,即“癫痫性部分性持续状态可能由小脑病变引起。” 但按照指令要求,给出上述译文 )
Cerebellum. 2004;3(2):126-8. doi: 10.1080/14734220410026220.