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丘脑中央中核深部脑刺激治疗遗传性全身性癫痫:一例报告及文献综述

Centromedian Nucleus of the Thalamus Deep Brain Stimulation for Genetic Generalized Epilepsy: A Case Report and Review of Literature.

作者信息

Agashe Shruti, Burkholder David, Starnes Keith, Van Gompel Jamie J, Lundstrom Brian N, Worrell Gregory A, Gregg Nicholas M

机构信息

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

Department of Neurosurgery, Mayo Clinic, Rochester, MN, United States.

出版信息

Front Hum Neurosci. 2022 May 20;16:858413. doi: 10.3389/fnhum.2022.858413. eCollection 2022.

Abstract

There is a paucity of treatment options for cognitively normal individuals with drug resistant genetic generalized epilepsy (GGE). Centromedian nucleus of the thalamus (CM) deep brain stimulation (DBS) may be a viable treatment for GGE. Here, we present the case of a 27-year-old cognitively normal woman with drug resistant GGE, with childhood onset. Seizure semiology are absence seizures and generalized onset tonic clonic (GTC) seizures. At baseline she had 4-8 GTC seizures per month and weekly absence seizures despite three antiseizure medications and vagus nerve stimulation. A multidisciplinary committee recommended off-label use of CM DBS in this patient. Over 12-months of CM DBS she had two GTC seizure days, which were in the setting of medication withdrawal and illness, and no GTC seizures in the last 6 months. There was no significant change in the burden of absence seizures. Presently, just two studies clearly document CM DBS in cognitively normal individuals with GGE or idiopathic generalized epilepsy (IGE) [in contrast to studies of cognitively impaired individuals with developmental and epileptic encephalopathies (DEE)]. Our results suggest that CM DBS can be an effective treatment for cognitively normal individuals with GGE and underscore the need for prospective studies of CM DBS.

摘要

对于药物难治性遗传性全面性癫痫(GGE)且认知功能正常的个体,治疗选择匮乏。丘脑中央中核(CM)深部脑刺激(DBS)可能是GGE的一种可行治疗方法。在此,我们报告一例27岁童年起病、认知功能正常的药物难治性GGE女性病例。发作症状学为失神发作和全面性强直阵挛发作(GTC)。基线时,尽管使用了三种抗癫痫药物和迷走神经刺激,她每月仍有4 - 8次GTC发作且每周有失神发作。一个多学科委员会建议对该患者进行CM DBS的非标签使用。在CM DBS治疗的12个月期间,她有两天出现GTC发作,这是在撤药和患病的情况下发生的,且在最后6个月没有GTC发作。失神发作的负担没有显著变化。目前,仅有两项研究明确记录了CM DBS在GGE或特发性全面性癫痫(IGE)认知功能正常个体中的应用[与发育性和癫痫性脑病(DEE)认知受损个体的研究形成对比]。我们的结果表明,CM DBS可以是GGE认知功能正常个体的一种有效治疗方法,并强调了对CM DBS进行前瞻性研究的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859c/9164300/a2998d9aed98/fnhum-16-858413-g001.jpg

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