Ohno Ayaka, Baba Shimpei, Jinnnai Wataru, Hoshino Hiroki, Kanemura Hideaki, Saito Takashi, Shimizu-Motohashi Yuko, Komaki Hirofumi
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, JPN.
Department of Pediatrics, Toho University Medical Center Sakura Hospital, Chiba, JPN.
Cureus. 2024 May 17;16(5):e60525. doi: 10.7759/cureus.60525. eCollection 2024 May.
Febrile infection-related epilepsy syndrome (FIRES) is a rare epileptic encephalopathy that occurs in children or adolescents. To date, evidence for the management of the post-acute phase of FIRES is focused on drug-resistant epilepsy that continues from the acute phase. Information on involuntary movements, which are newly developed in the chronic phase, is limited. We report a 13-year-old boy, who had a history of FIRES at nine years of age and experienced worsening seizure control that was accompanied by unremitting involuntary movements after two years of a fairly controlled period. The involuntary movements resulted in motor deterioration and forced him to be bedridden. Although no neuronal autoantibodies were detected, we hypothesized that the boy's neurological deterioration was triggered by an autoimmune response based on the elevation of serum anti-glutamic acid decarboxylase and serum anti-thyroid peroxidase antibodies and hypermetabolism of bilateral lenticular nuclei on 18-fluorodeoxyglucose positron emission tomography that resembled those reported in patients with other types of autoimmune encephalitis. Serial methylprednisolone pulse therapy and intravenous immunoglobulin therapy ameliorated involuntary movements and improved his activities of daily living. Late-onset involuntary movements, along with seizure exacerbation, may appear in the chronic phase of FIRES. Immunotherapy could be effective in treating these symptoms.
发热感染相关癫痫综合征（FIRES）是一种发生于儿童或青少年的罕见癫痫性脑病。迄今为止，关于FIRES急性期后管理的证据主要集中在急性期持续存在的耐药性癫痫。关于慢性期新出现的不自主运动的信息有限。我们报告一名13岁男孩，他9岁时有FIRES病史，在经历了两年相对控制良好的时期后，癫痫控制情况恶化，并伴有持续的不自主运动。这些不自主运动导致运动功能恶化，迫使他卧床不起。尽管未检测到神经元自身抗体，但基于血清抗谷氨酸脱羧酶和血清抗甲状腺过氧化物酶抗体升高以及18氟脱氧葡萄糖正电子发射断层扫描显示双侧豆状核代谢亢进，类似于其他类型自身免疫性脑炎患者的表现，我们推测该男孩的神经功能恶化是由自身免疫反应触发的。连续甲基强的松龙冲击治疗和静脉注射免疫球蛋白治疗改善了不自主运动，提高了他的日常生活活动能力。FIRES慢性期可能出现迟发性不自主运动以及癫痫发作加剧。免疫治疗可能对治疗这些症状有效。
