儿童热性感染相关性癫痫综合征的影像学特点

Magnetic resonance imaging characteristics of children with febrile infection-related epilepsy syndrome

摘要

目的 探讨热性感染相关性癫痫综合征（febrile infection-related epilepsy syndrome，FIRES）患儿头颅磁共振（magnetic resonance imaging，MRI）影像学特点。 方法 回顾性分析北京大学第一医院儿科2020年11月至2024年8月收住院的FIRES患儿，评估头颅MRI特征性表现屏状核征及其他影像学特点。 结果 共纳入86例确诊FIRES的儿童，包括65例（75.6%）男童和21例（24.4%）女童，起病中位年龄为6.35（4.4，8.32）岁。14例（16.3%）患儿在急性期内头颅MRI表现正常，最常见的异常表现为T2 FLAIR改变（39.5%），其次有30例（34.9%）患儿出现脑萎缩，首次出现脑萎缩的时间为44（34，72） d。22例（25.6%）患儿急性期头颅MRI显示双侧屏状核征阳性，表现为双侧屏状核区对称性T2 FLAIR高信号并弥散受限，首次出现屏状核征阳性的中位时间为11（7，15） d，屏状核征转阴中位时间为33（24，50） d，大部分患儿的屏状核征在急性期癫痫持续状态停止后消失。71例患儿随访期间进入病程慢性期，病程中头颅MRI持续正常有3例，慢性期首次出现脑萎缩有34例，首次头颅MRI出现脑萎缩时间为186（115，429） d，急性期及慢性期总共有64例患者头颅MRI出现脑萎缩变化（64/86，80.0%）。 结论 FIRES患儿的头颅MRI影像学表现特点不一，病初可表现正常，双侧屏状核征阳性可能为急性期特异性表现，大部分病例的屏状核改变在癫痫持续状态症状改善后消失，后期大多进展至脑萎缩。

Abstract

Objective To investigate the cranial magnetic resonance imaging（MRI） characteristics of children with febrile infection-related epilepsy syndrome（FIRES）. Methods A retrospective analysis was performed for the imaging characteristics of children with FIRES who were admitted to Department of Pediatrics，Peking University First Hospital，from November 2020 to August 2024，including the characteristic manifestation of claustrum sign on cranial MRI. Results A total of 86 children with a confirmed diagnosis of FIRES were included，among whom there were 65 boys（75.6%） and 21 girls（24.4%），with a median age of onset of 6.35（4.4，8.32） years. Among these children，14（16.3%） had normal cranial MRI findings in the acute stage，with T2 FLAIR changes as the most common abnormal manifestation（39.5%），and 30 children（34.9%） experienced brain atrophy，with a median time of 44（34，72） days for the onset of brain atrophy for the first time. There were 22 children（25.6%） with positive bilateral claustrum sign on cranial MRI，which manifested as symmetrical T2 FLAIR hyperintensity with limited diffusion in the bilateral claustrum，and the median time to the first appearance of claustrum sign was 11（7，15） days，while the median time to negative conversion of claustrum sign was 33（24，50） days. The claustrum sign disappeared after the relief of status epilepticus in the acute stage in most children. Among the children in this study，71 entered the chronic stage during follow-up，3 had normal cranial MRI results during the course of the disease，and 34 had brain atrophy for the first time in the chronic stage，with a median time of 186（115，429） days to the first appearance of brain atrophy on cranial MRI，while of all 86 children，64（80.0%） experienced brain atrophy on cranial MRI in the acute stage and the chronic stage. Conclusion Children with FIRES have diverse cranial MRI characteristics. There might be normal MRI manifestations at the beginning of the disease，and positive bilateral claustrum sign might be the specific manifestation in the acute stage. Changes in the claustrum disappear after the relief of status epilepticus in most cases，and most patients may progress to brain atrophy in the chronic stage.

关键词

热性感染相关性癫痫综合征 / 屏状核征 / 急性期 / 影像学特点

Key words

febrile infection-related epilepsy syndrome / claustrum sign / acute stage / imaging characteristics

基金资助

中央高校基本科研业务费

北京市自然科学基金青年资助项目(7244416)

2023北京大学临床医学+X青年专项资助项目