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
Bibliographical Record
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
