探讨热性感染相关性癫痫综合征(FIRES)患儿的临床表现、脑电图及医学影像学特点。

选择2016年8月至2019年9月，于四川大学华西第二医院诊治的5例FIRES患儿(患儿1~5)为研究对象。回顾性分析其临床病例资料，包括临床表现与实验室检查、脑电图及医学影像学检查、治疗和随访结果等。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。

本研究患儿1~5的研究结果如下。①一般临床资料：年龄为4~9岁，男性与女性患儿比为2∶3，发热至首次抽搐发作间隔时间为4~7 d，入院时均处于昏迷状态，改良Glasgow昏迷评分为3~7分。②脑电图检查结果：其脑电图背景节律呈慢化、多灶性癫痫样放电。③医学影像学检查结果：其病程早期头颅影像学检查结果正常，后期均可见脑萎缩改变，在额、顶、枕叶皮质或皮质下及脑室旁白质区等部位出现异常信号影。④治疗结果：对其采取多种抗癫痫药物、激素、丙种球蛋白、血浆置换等治疗均无效；采用生酮饮食(KD)治疗1~14 d后，其抽搐发作频率降低。⑤随访结果：在随访1~6个月时，2例(患儿3、5)癫痫发作得到完全控制，1例(患儿1)癫痫发作得到明显控制，2例(患儿2、4)遗留难治性癫痫发作；除1例(患儿3)仅伴轻度学习障碍外，其余4例(患儿1~2、4~5)均存在中至重度认知障碍。

FIRES是一种严重癫痫性脑病，多数FIRES患儿经治疗后，可遗留严重认知功能损害和难治性癫痫发作，预后差，接受药物治疗如常规抗癫痫药物、麻醉剂、免疫调节等效果不理想，KD治疗可能有助于控制癫痫发作。

To explore clinical manifestations, electroencephalogram and medical imaging characteristics of children with febrile infection-related epilepsy syndrome (FIRES).

A total of five children (patient 1-5) with FIRES were selected as research subjects, who were enrolled in West China Second University Hospital, Sichuan University from August 2016 to September 2019. Their clinical data, including clinical manifestations, laboratory tests results, electroencephalogram, imaging results, treatments and follow-up results, etc. were analyzed retrospectively. The procedures in this study followed the requirements of Helsinki Declaration of World Medical Association revised in 2013.

The results of these 5 children with FIRES were as follows. ①General clinical data: their age was 4-9 years old, the ratio of male to female was 2∶3, interval between fever and first seizure was 4-7 d, all were in coma when admitted to hospital. The modified Glasgow coma score was 3-7 scores. ②Electroencephalogram results: electroencephalogram background showed rhythms slowed and multifocal epileptiform discharges. ③Imaging results: results of cranial imaging in early stage were normal. Later, their brain atrophy could be found in the later stage, and abnormal signal shadows could be found in frontal, parietal, occipital cortex or subcortex, and periventricular white matter areas. ④Therapeutic results: they were treated by multiple antiepileptic drugs, hormones, gamma globulin, plasma exchange and other treatments and all these treatments were ineffective, but clinical seizures were significantly reduced after treatment by ketogenic diet (KD) in 1-14 d. ⑤Follow-up results: after followed up for 1-6 months, epileptic seizures were completely controlled in 2 cases (patient 3, 5), epileptic seizures were obviously controlled in 1 case (patient 1), 2 cases (patient 2, 4) remained intractable seizures. Other than 1 case (patient 3) remained mild learning disabilities, 4 cases (patient 1-2, 4-5) had moderate to severe cognitive impairment.

FIRES is a severe epileptic encephalopathy, and most children with FIRES may remain severe cognitive impairment and refractory seizures after treatment. The prognosis is poor, the effects of drug treatments such as conventional antiepileptic drugs, anesthetics, immune modulation and others are not ideal, KD treatment may help to control seizures.