迷走神经刺激在与肌阵挛性癫痫伴破碎红纤维综合征相关的超难治性癫痫持续状态中的成功应用。
Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.
作者信息
Baysal Leyla, Jobi Sabrina, Zimmermann Simone, Helmers Ann-Kristin, Margraf Nils Gerd
机构信息
Epilepsy Center, Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str. 3, 24105 Kiel, Germany.
Department of Neurosurgery, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str. 3, 24105 Kiel, Germany.
出版信息
Epilepsy Behav Rep. 2025 Apr 14;30:100769. doi: 10.1016/j.ebr.2025.100769. eCollection 2025 Jun.
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a rare mitochondrial disorder marked by myoclonus, ataxia, cognitive impairment, myopathy, and sensorineural hearing loss. Seizures in MERRF syndrome are often resistant to standard antiseizure medication. We present a unique case of an adult patient with MERRF syndrome, caused by the m.8344A > G point mutation, who developed super-refractory status epilepticus (SRSE), successfully managed by the initiation and rapid escalation of vagus nerve stimulation (VNS) therapy. Over a two-year follow-up period, the VNS therapy enabled a long-term control of generalized tonic-clonic seizures. A further status epilepticus has not yet occurred. VNS may therefore be a promising therapeutic option for managing SRSE in patients with mitochondrial epilepsy syndromes.
肌阵挛性癫痫伴破碎红纤维（MERRF）综合征是一种罕见的线粒体疾病，其特征为肌阵挛、共济失调、认知障碍、肌病和感音神经性听力损失。MERRF综合征的癫痫发作通常对标准抗癫痫药物耐药。我们报告了一例由m.8344A>G点突变引起的成年MERRF综合征患者的独特病例，该患者发生了超难治性癫痫持续状态（SRSE），通过启动并迅速升级迷走神经刺激（VNS）治疗成功得到控制。在两年的随访期内，VNS治疗实现了对全身强直阵挛性发作的长期控制。尚未再次发生癫痫持续状态。因此，VNS可能是治疗线粒体癫痫综合征患者SRSE的一种有前景的治疗选择。
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