小儿放射孤立综合征和多发性硬化症前驱：一例报告和文献回顾

IF 2.9 3区医学 Q2 CLINICAL NEUROLOGY

Multiple sclerosis and related disorders Pub Date : 2025-05-20 DOI:10.1016/j.msard.2025.106538

Charalampos Tzempetzis , Chrysanthi Tsimakidi , Dionysia Gkougka , Maria Gontika

{"title":"小儿放射孤立综合征和多发性硬化症前驱：一例报告和文献回顾","authors":"Charalampos Tzempetzis , Chrysanthi Tsimakidi , Dionysia Gkougka , Maria Gontika","doi":"10.1016/j.msard.2025.106538","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Radiologically isolated syndrome (RIS) represents a preclinical stage in multiple sclerosis (MS), marked by incidental, asymptomatic MRI findings of demyelination. While adult RIS is well-defined, pediatric RIS remains largely uncharted in terms of prevalence, clinical significance, and risk of progression.</div></div><div><h3>Methods</h3><div>This case-based analysis details the patient’s clinical history, imaging, and laboratory findings, alongside a comprehensive literature review on ped-RIS and its association with epilepsy and pediatric-onset MS.</div></div><div><h3>Results</h3><div>A 17-year-old female developed focal seizures at 15. Brain MRI revealed typical demyelinating lesions and lumbar puncture showed intrathecal oligoclonal bands (OCBs). Similar to adults, children with ped-RIS face a substantial risk of clinical conversion, influenced by biomarkers like neurofilament light chain and OCBs. Epilepsy may be an underrecognized MS prodromal or early symptom. No formal ped-RIS criteria or treatment consensus exist.</div></div><div><h3>Conclusions</h3><div>Expanding POMS registries and refining ped-RIS criteria are crucial for improving early intervention and long-term outcomes.</div></div>","PeriodicalId":18958,"journal":{"name":"Multiple sclerosis and related disorders","volume":"100 ","pages":"Article 106538"},"PeriodicalIF":2.9000,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pediatric Radiologically Isolated Syndrome and Multiple Sclerosis Prodrome: A case report and review of the literature\",\"authors\":\"Charalampos Tzempetzis , Chrysanthi Tsimakidi , Dionysia Gkougka , Maria Gontika\",\"doi\":\"10.1016/j.msard.2025.106538\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Radiologically isolated syndrome (RIS) represents a preclinical stage in multiple sclerosis (MS), marked by incidental, asymptomatic MRI findings of demyelination. While adult RIS is well-defined, pediatric RIS remains largely uncharted in terms of prevalence, clinical significance, and risk of progression.</div></div><div><h3>Methods</h3><div>This case-based analysis details the patient’s clinical history, imaging, and laboratory findings, alongside a comprehensive literature review on ped-RIS and its association with epilepsy and pediatric-onset MS.</div></div><div><h3>Results</h3><div>A 17-year-old female developed focal seizures at 15. Brain MRI revealed typical demyelinating lesions and lumbar puncture showed intrathecal oligoclonal bands (OCBs). Similar to adults, children with ped-RIS face a substantial risk of clinical conversion, influenced by biomarkers like neurofilament light chain and OCBs. Epilepsy may be an underrecognized MS prodromal or early symptom. No formal ped-RIS criteria or treatment consensus exist.</div></div><div><h3>Conclusions</h3><div>Expanding POMS registries and refining ped-RIS criteria are crucial for improving early intervention and long-term outcomes.</div></div>\",\"PeriodicalId\":18958,\"journal\":{\"name\":\"Multiple sclerosis and related disorders\",\"volume\":\"100 \",\"pages\":\"Article 106538\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Multiple sclerosis and related disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2211034825002809\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Multiple sclerosis and related disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2211034825002809","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

背景：放射学孤立综合征（RIS）代表多发性硬化症（MS）的临床前阶段，以偶然的、无症状的脱髓鞘MRI表现为标志。虽然成人RIS定义明确，但儿童RIS在患病率、临床意义和进展风险方面仍未明确。方法：本研究以病例为基础，详细分析了患者的临床病史、影像学和实验室结果，并对儿科ris及其与癫痫和儿科发病ms的关系进行了全面的文献回顾。脑MRI显示典型的脱髓鞘病变，腰椎穿刺显示鞘内寡克隆带（OCBs）。与成人相似，受神经丝轻链和ocb等生物标志物的影响，患有儿科ris的儿童面临临床转化的重大风险。癫痫可能是一种未被充分认识的MS前驱或早期症状。目前尚无正式的儿科ris标准或治疗共识。结论扩大POMS登记和完善儿科ris标准对改善早期干预和长期疗效至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Pediatric Radiologically Isolated Syndrome and Multiple Sclerosis Prodrome: A case report and review of the literature

Background

Radiologically isolated syndrome (RIS) represents a preclinical stage in multiple sclerosis (MS), marked by incidental, asymptomatic MRI findings of demyelination. While adult RIS is well-defined, pediatric RIS remains largely uncharted in terms of prevalence, clinical significance, and risk of progression.

Methods

This case-based analysis details the patient’s clinical history, imaging, and laboratory findings, alongside a comprehensive literature review on ped-RIS and its association with epilepsy and pediatric-onset MS.

Results

A 17-year-old female developed focal seizures at 15. Brain MRI revealed typical demyelinating lesions and lumbar puncture showed intrathecal oligoclonal bands (OCBs). Similar to adults, children with ped-RIS face a substantial risk of clinical conversion, influenced by biomarkers like neurofilament light chain and OCBs. Epilepsy may be an underrecognized MS prodromal or early symptom. No formal ped-RIS criteria or treatment consensus exist.

Conclusions

Expanding POMS registries and refining ped-RIS criteria are crucial for improving early intervention and long-term outcomes.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Multiple sclerosis and related disorders CLINICAL NEUROLOGY-

CiteScore

5.80

自引率

20.00%

发文量

814

审稿时长

66 days

期刊介绍： Multiple Sclerosis is an area of ever expanding research and escalating publications. Multiple Sclerosis and Related Disorders is a wide ranging international journal supported by key researchers from all neuroscience domains that focus on MS and associated disease of the central nervous system. The primary aim of this new journal is the rapid publication of high quality original research in the field. Important secondary aims will be timely updates and editorials on important scientific and clinical care advances, controversies in the field, and invited opinion articles from current thought leaders on topical issues. One section of the journal will focus on teaching, written to enhance the practice of community and academic neurologists involved in the care of MS patients. Summaries of key articles written for a lay audience will be provided as an on-line resource. A team of four chief editors is supported by leading section editors who will commission and appraise original and review articles concerning: clinical neurology, neuroimaging, neuropathology, neuroepidemiology, therapeutics, genetics / transcriptomics, experimental models, neuroimmunology, biomarkers, neuropsychology, neurorehabilitation, measurement scales, teaching, neuroethics and lay communication.