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小儿热性肌阵挛的识别:一例视频记录病例报告及当前文献综述

Recognizing pediatric febrile myoclonus: a video-documented case report and review of the current literature.

作者信息

Minerva M, Perilli L, Francioni A, Lotti F, Curcio M R, Grosso S

机构信息

Clinical Pediatrics, Department of Molecular Medicine and Development, Azienda Ospedaliero-Universitaria Senese, University of Siena, Siena, Italy.

出版信息

Front Pediatr. 2025 Aug 26;13:1653744. doi: 10.3389/fped.2025.1653744. eCollection 2025.

DOI:10.3389/fped.2025.1653744
PMID:40933695
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12417493/
Abstract

Febrile myoclonus (FM) is a benign condition characterized by the sudden onset of generalized, multifocal, or segmental jerks during fever, without signs of central nervous system infections, resolving as the temperature elevation subsides. This condition is poorly described in literature, and its incidence is not well identified. We present the case of a 1-year-old child who developed myoclonic jerks during a febrile episode, diagnosed with FM. The child exhibited a normal neurological examination and neuromotor development appropriate for age. The electroencephalogram (EEG) showed no epileptiform discharges during the events, and past medical or familiar history was negative for epilepsy or any other neurological condition. We conducted a narrative review of the current literature to improve understanding of this benign clinical manifestation. Additionally, we included audio and video material to aid physicians in recognizing the condition, avoiding unnecessary diagnostic procedures and overtreatment with antiseizure medications. Our goal is to increase awareness of this rare phenomenon and expand its phenotypical spectrum.

摘要

发热性肌阵挛(FM)是一种良性病症,其特征为发热期间突然出现全身性、多灶性或节段性抽搐,无中枢神经系统感染迹象,随着体温升高消退而缓解。这种病症在文献中描述较少,其发病率也未明确确定。我们报告一例1岁儿童,在发热发作期间出现肌阵挛性抽搐,诊断为FM。该儿童神经系统检查正常,神经运动发育与年龄相符。事件发生期间脑电图(EEG)未显示癫痫样放电,既往病史或家族史无癫痫或任何其他神经系统疾病。我们对当前文献进行了叙述性综述,以增进对这种良性临床表现的理解。此外,我们纳入了音频和视频资料,以帮助医生识别这种病症,避免不必要的诊断程序和抗癫痫药物的过度治疗。我们的目标是提高对这种罕见现象的认识,并扩大其表型谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5948/12417493/672973cf63b2/fped-13-1653744-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5948/12417493/672973cf63b2/fped-13-1653744-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5948/12417493/672973cf63b2/fped-13-1653744-g001.jpg

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本文引用的文献

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Myoclonus: Differential diagnosis and current management.肌阵挛:鉴别诊断与当前管理。
Epilepsia Open. 2024 Apr;9(2):486-500. doi: 10.1002/epi4.12917. Epub 2024 Feb 9.
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"The Red Flags" in Clinical Approach to Acute Ataxia-the Experience in Cohort of 76 Children.《急性共济失调临床处理的“危险信号”》——76 例儿童队列研究的经验
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Antibody-Mediated Encephalitis.抗体介导的脑炎
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