{"title":"When flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease.","authors":"Caio César Diniz Disserol, Guilherme Fleury Perini, Flávia Fernandes Silva Zacchi, Lívia Almeida Dutra","doi":"10.1055/s-0045-1802959","DOIUrl":null,"url":null,"abstract":"<p><p>Erdheim-Chester disease (ECD) is a rare histiocytic disorder that poses diagnostic and therapeutic challenges. Neurological manifestations are characterized by involvement of the meninges, brainstem, and/or cerebellum, and the differential diagnoses include sarcoidosis, IgG4 related disorders, autoimmune encephalitis, and high-risk syndromes. While present in a significant proportion of cases, neurological involvement is a predictor of mortality and may be the sole manifestation of the disease. In this paper, we discuss recent updates in histiocytic disorders and complementary diagnostic approaches, including positron-emission tomography-computed tomography (PET-CT), as guidance for biopsy in patients with neurological symptoms. Additionally, we explore how clinicians can interpret biopsy findings in conjunction with immunohistochemistry to guide targeted therapies, such as vemurafenib, for <i>BRAF</i> V600E mutation.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-5"},"PeriodicalIF":1.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos de neuro-psiquiatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0045-1802959","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/2/28 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Erdheim-Chester disease (ECD) is a rare histiocytic disorder that poses diagnostic and therapeutic challenges. Neurological manifestations are characterized by involvement of the meninges, brainstem, and/or cerebellum, and the differential diagnoses include sarcoidosis, IgG4 related disorders, autoimmune encephalitis, and high-risk syndromes. While present in a significant proportion of cases, neurological involvement is a predictor of mortality and may be the sole manifestation of the disease. In this paper, we discuss recent updates in histiocytic disorders and complementary diagnostic approaches, including positron-emission tomography-computed tomography (PET-CT), as guidance for biopsy in patients with neurological symptoms. Additionally, we explore how clinicians can interpret biopsy findings in conjunction with immunohistochemistry to guide targeted therapies, such as vemurafenib, for BRAF V600E mutation.
期刊介绍：
Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology.
The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.
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