Erdheim-Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-02-01 Epub Date: 2023-06-26 DOI:10.1111/neup.12930
Merve Aktan Suzgun, Elif Everest, Selin Kucukyurt, Melih Tutuncu, Ugur Uygunoglu, Ahmet Emre Eskazan, Ugur Ture, Herbert Budka, Aydin Sav, Aksel Siva
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引用次数: 0

Abstract

Erdheim-Chester disease is a non-Langerhans cell histiocytosis syndrome characterised by histiocytic infiltration of different organs and systems in the body. Erdheim-Chester disease with isolated central nervous system (CNS) involvement causes diagnostic difficulties due to the absence of systemic findings and may result in misdiagnosis and inaccurate treatment choices. The case discussed in this report exemplifies how challenging it is to diagnose Erdheim-Chester disease with isolated CNS involvement. This case, which presented with progressive pyramidocerebellar syndrome, was clinically and radiologically resistant to all immunosuppressive and immunomodulatory treatments administered. The presence of false negative results in repeated histopathological investigations and the absence of evidence for systemic disease hindered the diagnosis and treatment work-up. In this study, we reviewed and discussed the prominent features of the presented case in light of the relevant literature.

埃尔德海姆-切斯特脑实质病(Erdheim-Chester disease),无全身受累:病例报告和文献综述
埃尔德海姆-切斯特病是一种非朗格汉斯细胞组织细胞增生症综合征,其特征是组织细胞浸润人体的不同器官和系统。埃尔德海姆-切斯特病患者的中枢神经系统(CNS)孤立受累,由于没有全身性的发现,会给诊断带来困难,并可能导致误诊和治疗选择的不准确。本报告中讨论的病例充分说明了诊断孤立性中枢神经系统受累的埃尔德海姆-切斯特病是多么具有挑战性。该病例表现为进行性锥体小脑综合征,在临床和影像学上对所有免疫抑制和免疫调节治疗均无效。反复组织病理学检查的假阴性结果和全身性疾病证据的缺失阻碍了诊断和治疗工作。在本研究中,我们结合相关文献回顾并讨论了该病例的突出特点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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