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DOI: 10.1055/s-0045-1802959
When flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease


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.
Keywords
Erdheim-Chester Disease - Histiocytosis - Positron-Emission Tomography-Computed Tomography - Proto-Oncogene Proteins B-RafAuthors' Contributions
All authors participated in the conception and design of the study; acquisition, analysis, and interpretation of data; and drafting and critical revision of the manuscript.
Editor-in-Chief: Hélio A. G. Teive.
Associate Editor: Ayrton Roberto Massaro.
Publication History
Received: 11 December 2024
Accepted: 13 January 2025
Article published online:
28 February 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
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Caio César Diniz Disserol, Guilherme Fleury Perini, Flávia Fernandes Silva Zacchi, Lívia Almeida Dutra. When flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease. Arq Neuropsiquiatr 2025; 83: s00451802959.
DOI: 10.1055/s-0045-1802959