Mine Daiki, Shimogawa Takafumi, Sakai Yasunari, Shigeto Hiroshi, Okubo Shusuke, Sakata Ayumi, Watanabe Eriko, Nakamizo Akira, Yoshimoto Koji
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Neurosurg Case Lessons. 2025 Jul 7;10(1). doi: 10.3171/CASE2576.
The authors report the first case of an adult patient with progressive myoclonic epilepsy (PME) due to dentatorubral-pallidoluysian atrophy (DRPLA) who underwent total corpus callosotomy (CC) for drug-resistant epilepsy, resulting in a significant reduction in seizure frequency and improved quality of life (QOL).
A patient developed upper limb myoclonus followed by tonic seizures in the upper and lower limbs at 8 years of age with progressive symptoms of cerebellar ataxia and cognitive decline at 10 years of age. The patient was diagnosed with DRPLA. Despite antiepileptic drug therapy, seizures persisted and worsened, leading to oxygen desaturation during epileptic seizures. Focal to bilateral tonic-clonic seizures (FBTCSs) evolved into status epilepticus, lasting more than 30 minutes every day. Therefore, the authors considered that a surgical intervention may alleviate daily seizures. To warrant the rapid therapeutic effect, a total CC was performed. The frequency and severity of his seizures decreased significantly after surgery, and tonic seizures and FBTCSs with oxygen desaturation disappeared 1 year after surgery.
Total CC for refractory PME with severe cognitive impairment can not only alleviate seizures rapidly but also improve patients' QOL. Therefore, CC may represent a viable therapeutic option for refractory PME. https://thejns.org/doi/10.3171/CASE2576.
作者报告了首例因齿状核红核苍白球路易体萎缩症（DRPLA）导致的进行性肌阵挛癫痫（PME）成年患者，该患者因药物难治性癫痫接受了胼胝体全切术（CC），术后癫痫发作频率显著降低，生活质量（QOL）得到改善。
一名患者8岁时出现上肢肌阵挛，随后出现上肢和下肢强直发作，10岁时出现进行性小脑共济失调和认知功能下降症状。该患者被诊断为DRPLA。尽管接受了抗癫痫药物治疗，但癫痫发作仍持续且加重，导致癫痫发作时出现氧饱和度下降。局灶性双侧强直阵挛发作（FBTCSs）演变为癫痫持续状态，每天持续超过30分钟。因此，作者认为手术干预可能会减轻日常癫痫发作。为保证快速的治疗效果，进行了胼胝体全切术。术后他的癫痫发作频率和严重程度显著降低，术后1年强直发作和伴有氧饱和度下降的FBTCSs消失。
对于伴有严重认知障碍的难治性PME，胼胝体全切术不仅可以迅速减轻癫痫发作，还可以改善患者的生活质量。因此，胼胝体全切术可能是难治性PME的一种可行治疗选择。https://thejns.org/doi/10.3171/CASE2576
