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两名患有广泛脑肿瘤样病变提示巴洛型多发性硬化症的儿科患者诊断和治疗的长期挑战

Overtime Challenges of Diagnosis and Treatment in Two Pediatric Patients with Extensive Cerebral Tumefactive Lesions Indicative of Baló's Type Multiple Sclerosis.

作者信息

Dică Alice Denisa, Craiu Dana, Iliescu Catrinel, Găină Marcel-Alexandru, Sandu Carmen, Pomeran Cristina, Burloiu Carmen, Găină Alexandra-Maria, Ion Daniela Adriana

机构信息

"Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.

Department of Pediatric Neurology, The Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

出版信息

Children (Basel). 2025 May 14;12(5):630. doi: 10.3390/children12050630.

DOI:10.3390/children12050630
PMID:40426809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12109845/
Abstract

BACKGROUND

Baló's concentric sclerosis stands out as a rare form of multiple sclerosis that features large tumor-like demyelinating lesions, which resemble brain tumors and create significant diagnostic and therapeutic obstacles for pediatric patients.

CASE PRESENTATIONS

We present two case studies of pediatric patients, aged 11 and 15, diagnosed with extensive cerebral tumefactive inflammatory lesions indicative of Balo's type multiple sclerosis (MS). Both cases highlight the unique challenges faced in the diagnosis and treatment of this rare form of MS, characterized by the presence of large, tumor-like lesions that can mimic primary brain tumors. We will explore the diagnostic complexities, including the need for advanced imaging techniques, MR (Magnetic Resonance) spectroscopy, along with the time needed for differential diagnoses, which might delay the start of proper treatment. Current therapies, such as corticosteroids and immunomodulators, require customization to individual patients, carefully monitoring of clinical outcomes and possible side effects. This paper emphasizes that handling these cases requires a multidisciplinary approach, addressing not only the medical treatment but also the psychosocial needs of affected children and their families. By sharing these experiences, we aim to increase awareness about Balo's type MS in pediatric populations and provide clinical insights into effective management strategies for similar cases in clinical practice.

CONCLUSIONS

Timely detection of atypical demyelinating lesions together with immediate treatment intervention plays a crucial role in pediatric Baló-type MS. These cases demonstrate the essential role of advanced imaging and immunological testing in precise diagnosis while showcasing successful treatment approaches through corticosteroids and second-line immunotherapies, which improve patient outcomes in this atypical MS variant.

摘要

背景

巴洛同心性硬化是一种罕见的多发性硬化症形式,其特征是出现大的肿瘤样脱髓鞘病变,这些病变类似于脑肿瘤,给儿科患者带来了重大的诊断和治疗障碍。

病例报告

我们介绍了两名儿科患者的病例研究,年龄分别为11岁和15岁,他们被诊断患有广泛的脑肿瘤样炎性病变,提示为巴洛型多发性硬化症(MS)。这两个病例都突出了这种罕见形式的MS在诊断和治疗中面临的独特挑战,其特点是存在可模仿原发性脑肿瘤的大的肿瘤样病变。我们将探讨诊断的复杂性,包括对先进成像技术、磁共振(MR)波谱的需求,以及鉴别诊断所需的时间,这可能会延迟适当治疗的开始。目前的治疗方法,如皮质类固醇和免疫调节剂,需要根据个体患者进行定制,仔细监测临床结果和可能的副作用。本文强调,处理这些病例需要多学科方法,不仅要解决医疗问题,还要关注受影响儿童及其家庭的心理社会需求。通过分享这些经验,我们旨在提高儿科人群对巴洛型MS的认识,并为临床实践中类似病例的有效管理策略提供临床见解。

结论

及时发现非典型脱髓鞘病变并立即进行治疗干预在儿科巴洛型MS中起着至关重要的作用。这些病例证明了先进成像和免疫检测在精确诊断中的重要作用,同时展示了通过皮质类固醇和二线免疫疗法的成功治疗方法,这些方法改善了这种非典型MS变体患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/203dc542247c/children-12-00630-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/8ae73bc879b7/children-12-00630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/468cb82d565a/children-12-00630-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/13d416b33980/children-12-00630-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/e33cd23da342/children-12-00630-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/7f790f13b0e8/children-12-00630-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/8f0ee0dc9c94/children-12-00630-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/203dc542247c/children-12-00630-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/8ae73bc879b7/children-12-00630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/468cb82d565a/children-12-00630-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/13d416b33980/children-12-00630-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/e33cd23da342/children-12-00630-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/7f790f13b0e8/children-12-00630-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/8f0ee0dc9c94/children-12-00630-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7170/12109845/203dc542247c/children-12-00630-g007.jpg

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本文引用的文献

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A Case of Balo Concentric Sclerosis: A Multiple Sclerosis Mimic.1例巴洛同心圆性硬化:一种类似多发性硬化的疾病。
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Incidence rate and prevalence of pediatric-onset multiple sclerosis in Sweden: A population-based register study.瑞典儿科发病多发性硬化症的发病率和患病率:一项基于人群的登记研究。
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Tumefactive demyelinating lesions: a retrospective cohort study in Thailand.肿块样脱髓鞘病变:泰国的一项回顾性队列研究。
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Baló's concentric sclerosis presenting asymptomatically in a child: clinico-radiological-pathological correlation.儿童无症状性巴洛同心性硬化:临床-放射学-病理学相关性
BMJ Case Rep. 2023 Nov 27;16(11):e256185. doi: 10.1136/bcr-2023-256185.
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Pediatric tumefactive multiple sclerosis case (with baló-like lesions), diagnostic and treatment challenges.儿科肿块样多发性硬化病例(伴鲍尔样病灶):诊断和治疗挑战。
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Baló's concentric sclerosis - A rare entity within the spectrum of demyelinating diseases.巴洛氏同心性硬化——脱髓鞘疾病谱中的一种罕见疾病。
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2021 MAGNIMS-CMSC-NAIMS consensus recommendations on the use of MRI in patients with multiple sclerosis.2021 年 MAGNIMS-CMSC-NAIMS 关于多发性硬化症患者使用 MRI 的共识建议。
Lancet Neurol. 2021 Aug;20(8):653-670. doi: 10.1016/S1474-4422(21)00095-8. Epub 2021 Jun 14.
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