Ruttkowski Lars, Wallot Ines, Korell Marie, Daur Elke, Seipelt Peter, Leonhardt Andreas, Weber Stefanie, Mand Nadine
Pediatric Intensive Care, Department of Pediatrics, Philipps-University Marburg, Marburg, Germany.
Pediatric Neurology, Department of Pediatrics, Philipps-University Marburg, Marburg, Germany.
Front Neurosci. 2024 Mar 5;18:1255841. doi: 10.3389/fnins.2024.1255841. eCollection 2024.
We report a case of an otherwise healthy 14-year-old girl with febrile infection-related epilepsy syndrome (FIRES), multiple organ failure (MOF), and ultimately a lethal outcome. This is a rare case of FIRES with MOF and consecutive death. Only a few cases have been described in the literature. The adolescent girl was initially admitted to our pediatric emergency department with a first episode of generalized tonic-clonic seizures after a short history of fever a week before admission. Seizures progressed rapidly into refractory status epilepticus without any evidence of the underlying cause, and treatment subsequently had to be escalated to thiopental anesthesia. Since the initial diagnostics showed no promising leads, the rare syndrome of FIRES was suspected, representing a catastrophic epileptic encephalopathy linked to a prior benign febrile infection. Methylprednisolone, intravenous immunoglobulins, and a ketogenic diet were initiated. Respiratory, circulatory, kidney, and liver failure developed during treatment, requiring increasing intensive care. Multiple attempts to deescalate antiepileptic treatment resulted in recurrent status epilepticus. A cranial MRI on the 10th day of treatment revealed diffuse brain edema and no cerebral perfusion. The patient was declared dead on the 11th day of treatment. FIRES should be taken into account in previously healthy children with a new onset of difficult-to-treat seizures after a short febrile infection when no other cause is apparent. First-line treatment, besides seizure control, is the early initiation of immunomodulatory therapy and the start of a ketogenic diet. As treatment is difficult and MOF may develop, patients should be transferred to a specialized children's hospital providing full intensive care.
我们报告了一例原本健康的14岁女孩,她患有发热感染相关癫痫综合征(FIRES)、多器官功能衰竭(MOF),最终死亡。这是一例罕见的伴有MOF并导致连续死亡的FIRES病例。文献中仅描述了少数病例。该青春期女孩最初因入院前一周有短暂发热病史后首次出现全身强直阵挛性发作而入住我们的儿科急诊科。癫痫发作迅速进展为难治性癫痫持续状态,且无任何潜在病因的证据,随后治疗不得不升级为硫喷妥钠麻醉。由于初始诊断未发现有希望的线索,怀疑为罕见的FIRES综合征,这是一种与先前良性发热感染相关的灾难性癫痫性脑病。开始使用甲泼尼龙、静脉注射免疫球蛋白和生酮饮食。治疗期间出现呼吸、循环、肾脏和肝功能衰竭,需要加强重症监护。多次尝试降低抗癫痫治疗强度均导致癫痫持续状态复发。治疗第10天的头颅MRI显示弥漫性脑水肿且无脑灌注。患者在治疗第11天被宣布死亡。对于既往健康的儿童,在短暂发热感染后新发难治性癫痫发作且无其他明显病因时,应考虑FIRES。除了控制癫痫发作外,一线治疗是早期开始免疫调节治疗和启动生酮饮食。由于治疗困难且可能发生MOF,患者应转至提供全面重症监护的专业儿童医院。