Download PDF
CC BY 4.0 · Arq Neuropsiquiatr 2025; 83(09): s00451809403
DOI: 10.1055/s-0045-1809403
Neuroimaging

Erdheim-Chester manifesting purely as a neurological disease

Lídia Laura Salvador Ramos 
1   Universidade Federal de Uberlândia, Hospital de Clínicas, Departamento de Diagnóstico por Imagem, Uberlândia MG, Brazil.
,
Iago Resende Carvalho 
2   Universidade Federal de Uberlândia, Faculdade de Medicina, Uberlândia MG, Brazil.
,
Diogo Fernandes dos Santos 
3   Universidade Federal de Uberlândia, Hospital de Clínicas, Departamento de Neurologia, Uberlândia MG, Brazil.
,
Andrea de Martino Luppi 
2   Universidade Federal de Uberlândia, Faculdade de Medicina, Uberlândia MG, Brazil.
,
Bruno de Carvalho Dornelas 
4   Universidade Federal de Uberlândia, Hospital de Clínicas, Departamento de Anatomia Patológica, Uberlândia MG, Brazil.
› Author Affiliations
› Further Information
Also available at
  Permissions and Reprints

A 60-year-old man presented with vertigo, paraparesis, and dysarthria that evolved over 3 months. A magnetic resonance imaging (MRI) scan revealed nodular masses in the pons, peduncles, and cerebellar hemispheres, indicating a metastatic neoplasm ([Figure 1]). A craniectomy was performed, showing dense histiocyte proliferation, Touton giant cells, and lymphocytic infiltrate consistent with Erdheim-Chester disease ([Figure 2]). The cytogenetic analysis confirmed a BRAF V600 mutation. Vemurafenib therapy was initiated. Six months later, the patient still exhibited dyslalia and left hemiparesis, and a follow-up MRI scan was performed, revealing an area of sequelae ([Figure 3]). Erdheim-Chester disease is a rare non-Langerhans histiocytosis, with neurological symptoms occurring in 41% of the cases.[1] [2]

Zoom Image
Figure 1 Magnetic resonance imaging scan showing expansive intraparenchymal nodular lesions located in the posterior fossa, involving the pons, peduncles, and cerebellar hemispheres, presenting mild hypointense signal in the T2-weighted sequence (A) and vasogenic edema characterized by marginal fluid-attenuated inversion recovery (FLAIR) hypersignal (B) and intense contrast enhancement (C,D).
Zoom Image
Figure 2 Erdheim-Chester disease in the cerebellum. (A) An infiltrate of histiocytes with a bland appearance and giant cells associated with a sparse lymphoplasmacytic infiltrate (hematoxylin and eosin staining; magnification: 4x). (B) Histiocytes characterized by abundant foamy (xanthomatous) (arrows) cytoplasm with surrounding fibrosis (hematoxylin and eosin staining; magnification: 100x). (C) Touton giant cells are frequently present(*) (hematoxylin and eosin staining; magnification: 100x).
Zoom Image
Figure 3 Images after the treatment with vemurafenib showing an area of sequelae in the left cerebellar hemisphere, characterized by volumetric reduction and T2/FLAIR hyperintensity (A–C), with resolution of expansile lesions in the posterior fossa and regression of enhancement (D).

Authors' Contributions

Conceptualization: AML, BCD; Data curation: AML, BCD, LLR, ICR; Formal analysis: DS; Investigation: LLR; Supervision: BCD; Writing – original draft: LLR, ICR; Writing – review & editing: AML, DS.


Data Availability Statement

Data is available from the corresponding author upon reasonable request.


Editor-in-Chief: Hélio A. G. Teive 0000-0003-2305-1073.


Associate Editor: Leandro Tavares Lucato 0000-0001-9181-5245.




Publication History

Received: 07 March 2025

Accepted: 17 April 2025

Article published online:
21 June 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/)

Thieme Revinter Publicações Ltda.
Rua Rego Freitas, 175, loja 1, República, São Paulo, SP, CEP 01220-010, Brazil

Bibliographical Record
Lídia Laura Salvador Ramos, Iago Resende Carvalho, Diogo Fernandes dos Santos, Andrea de Martino Luppi, Bruno de Carvalho Dornelas. Erdheim-Chester manifesting purely as a neurological disease. Arq Neuropsiquiatr 2025; 83: s00451809403.
DOI: 10.1055/s-0045-1809403
 

  • References

  • 1 Benson JC, Vaubel R, Ebne BA, Mark IT, Celda MP, Hook CC. et al. Erdheim-Chester Disease. AJNR Am J Neuroradiol 2023; 44 (05) 505-510
    CrossrefPubMedSearch in Google Scholar
  • 2 Haque A, Pérez CA, Reddy TA, Gupta RK. Erdheim-Chester Disease with Isolated CNS Involvement: A Systematic Review of the Literature. Neurol Int 2022; 14 (03) 716-726
    CrossrefPubMedSearch in Google Scholar