Orsini A, Costagliola G, Perna D, Esposito M G, Bonfiglio L, Striano P, Peroni D, Consolini R, Bonuccelli A
Pediatric Neurology, Pediatric Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Italy.
Pediatric Immunology, Pediatric Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Italy.
Epilepsy Behav Rep. 2019 Oct 21;13:100334. doi: 10.1016/j.ebr.2019.100334. eCollection 2020.
Rasmussen syndrome (RS) is a chronic encephalopathy with uncertain etiology and immune-mediated pathogenesis. The only definitive treatment is represented by functional hemispherectomy. We describe the case of a 6.5-year-old female patient who developed several episodes of focal, unilateral clonic seizures. Following laboratory and instrumental investigations, the patient was diagnosed as having RS. A treatment with corticosteroids, intravenous immunoglobulin, and the antiseizure medication (carbamazepine and levetiracetam) did not completely control the seizures. Therefore, the patient was treated with mycophenolate mofetil (MMF), showing a good clinical response, with reduction of the seizures, and stability of the radiological findings. This case suggests the potential utility of MMF in the immune approach to RS.
拉斯穆森综合征（RS）是一种病因不明且发病机制为免疫介导的慢性脑病。唯一确切的治疗方法是功能性半球切除术。我们描述了一名6.5岁女性患者的病例，该患者出现了数次局灶性、单侧阵挛性癫痫发作。经过实验室和影像学检查，该患者被诊断为患有RS。使用皮质类固醇、静脉注射免疫球蛋白和抗癫痫药物（卡马西平和左乙拉西坦）治疗未能完全控制癫痫发作。因此，该患者接受了霉酚酸酯（MMF）治疗，显示出良好的临床反应，癫痫发作减少，影像学检查结果稳定。该病例提示MMF在RS的免疫治疗方法中具有潜在效用。
