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目的总结 Rasmussen 综合征(RS)的临床特征和治疗方法。方法对16例 RS 患儿的临床资料进行分析,并对患儿的预后进行随访。结果起病年龄1岁11个月～11岁6个月。均以癫痫发作为首发症状,主要的发作形式均为部分运动性发作。16例均进展为持续性部分性癫痫。13例就诊时已有偏瘫,出现固定偏瘫的时间为起病后2个月～3年。14例出现不同程度的认知障碍。EEG 背景双侧不对称性慢波;发作间期均有异常放电,其中一侧半球放电11例,双侧半球放电5例;16例均记录到发作期 EEG,其中5例发作与 EEG 放电不完全同步。16例头颅 MRI 均显示一侧大脑半球或局部皮层萎缩,出现皮层萎缩时的病程为5个月～3年4个月。16例对抗癫痫药疗效均不佳,大剂量丙种球蛋白或皮质类固醇可使部分患儿癫痫发作短期减少。6例行功能性半球切除者,4例发作停止,偏瘫及认知功能逐渐改善。结论 RS 的主要临床特征为难治性部分性癫痫、进行性偏瘫和认知倒退。EEG 特点为背景双侧不对称慢波,发作间期放电可为一侧性或双侧性,临床发作同期与EEG 放电可无明确相关性。头颅影像学特点为逐渐进展的一侧半球萎缩。该病药物治疗难以控制癫痫发作,功能性半球切除可改善发作并防止进一步脑功能恶化。
Objective To summarize the clinical features and treatment of Rasmussen syndrome (RS). Methods The clinical data of 16 children with RS were analyzed and their prognosis was followed up. Results onset age of 1 year and 11 months to 11 years and 6 months. Seizures were the first symptom, the main form of seizures are part of the sport seizures. All 16 patients progressed to persistent partial epilepsy. Thirteen patients had hemiplegia at the time of diagnosis, and the time of fixed hemiplegia was 2 months to 3 years after onset. 14 cases showed different degrees of cognitive impairment. EEG background bilateral asymmetric slow wave; abnormal discharge during the intermission, including 11 cases of hemispheric discharge on one side, bilateral hemispheric discharge in 5 cases; 16 cases were recorded in the attack EEG, 5 cases of attack and EEG discharge Fully synchronized. 16 cases of cranial MRI showed cerebral hemisphere or local cortical atrophy, cortical atrophy occurs when the course of 5 months to 3 years and 4 months. 16 cases of antiepileptic drugs are ineffective, high-dose gamma globulin or corticosteroids can make some children with short-term reduction in seizures. 6 cases of functional hemispherectomy, 4 cases stopped, hemiplegia and cognitive function gradually improved. Conclusions The main clinical features of RS are refractory partial epilepsy, progressive hemiplegia and cognitive regression. EEG characteristics of bilateral asymmetric slow wave background, interictal discharge may be one-sided or bilateral, clinical EEG discharge during the same period may not have a clear correlation. Cranial imaging features progressive hemifacial atrophy on one side. The disease drug treatment is difficult to control seizures, functional hemispherectomy can improve the attack and prevent further deterioration of brain function.