生酮饮食治疗热性感染相关性癫痫综合征5例并文献复习

Ketogenic diet in the treatment of 5 cases of febrile infection-related epilepsy syndrome and literature review

目的通过5例热性感染相关性癫痫综合征(Febrile infection-related epilepsy syndrome,FIRES)患儿的诊治分析并文献复习,探讨生酮饮食(Ketogenic diet,KD)的治疗效果。方法回顾性分析2016年8月—2019年9月四川大学华西第二医院小儿神经科收治的5例KD治疗FIRES患儿的临床情况,结合文献资料,总结其疾病特点、预后和KD治疗效果。结果5例FIRES患儿年龄(5.8±2.0)岁,男女比例2∶3,均为发热诱导继之出现药物难以控制的癫痫持续状态,发热至首次抽搐发作间隔4~7天,前驱症状为上呼吸道感染、头晕呕吐、乏力、精神萎靡、食欲不振等,抽搐表现为局灶、局灶继发全身或全面性发作,脑电图呈背景节律慢化、多灶性痫性放电改变,病程早期头部影像学检查基本正常,随着病程进展,逐步出现脑萎缩改变,额、顶、枕叶、脑室旁可见异常信号影。多种抗癫痫药物、激素、丙种球蛋白、血浆置换等治疗效果差,认知损害严重。启动KD治疗后2周内起效,抽搐情况减少,其中1例得到完全控制,认知功能基本恢复正常,仅伴轻度学习障碍;2例抽搐减少50%以上,遗留轻中度认知损害,另2例长期治疗效果差,遗留难治性癫痫发作和重度智力障碍。结论FIRES是一种严重的癫痫性脑病,绝大多数可遗留严重的认知功能损害和难治性癫痫发作,药物治疗及预后差,KD治疗有益于控制急性期FIRES患儿癫痫发作。

Objective According to the diagnosis and treatment analysis of 5 children with Febrile infectionrelated epilepsy syndrome(FIRES)and literature review,to explore the therapeutic effect of Ketogenic diet(KD).Methods A retrospective analysis of the clinical status of 5 children with KD treatment of FIRES admitted to the Department of Pediatric Neurology,West China Second Hospital of Sichuan University from August 2016 to September 2019,combined with literature data,summarized their disease characteristics,prognosis and KD treatment effects.Results The 5 cases of FIRES children were(5.8±2.0)years old and had a male to female ratio of 2∶3.They were all induced by fever followed by a status epilepticus that was difficult to control with drugs.The interval between fever and first seizure was 4 to 7 days,and the prodromal symptoms were higher Respiratory tract infections,dizziness,vomiting,fatigue,listlessness,loss of appetite,etc.,convulsions manifested as focal or focal secondary systemic or general seizures,EEG showed slowing background rhythm,changes in multifocal epileptic discharge,early course of disease The cranial imaging examination was basically normal.As the course of the disease progressed,changes in brain atrophy gradually appeared,and abnormal signal shadows were seen in the forehead,parietal,occipital lobe,and periventricular.A variety of anti-epileptic drugs,hormones,gamma globulin,plasma exchange and other treatments have poor therapeutic effects and severe cognitive impairment.The KD treatment started to take effect within 2 weeks,and the convulsions were reduced.One case was completely controlled,and the cognitive function basically returned to normal with only mild learning disabilities;the convulsions were reduced by more than 50%in 2 cases,leaving mild to moderate cognitive impairment,The other 2 cases had poor long-term treatment effects,left intractable seizures and severe mental retardation.Conclusion FIRES is a serious epileptic encephalopathy,most of which leave severe cognitive impairment and refractory seizures.Drug therapy and prognosis are poor.KD treatment is beneficial to control seizures in children with FIRES in the acute stage.