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-Raf

Authors' 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.

Publikationsverlauf

Eingereicht: 11. Dezember 2024

Angenommen: 13. Januar 2025

Artikel online veröffentlicht:
28. Februar 2025

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