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Erdheim-Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature.

Authors :
Aktan Suzgun M
Everest E
Kucukyurt S
Tutuncu M
Uygunoglu U
Eskazan AE
Ture U
Budka H
Sav A
Siva A
Source :
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2024 Feb; Vol. 44 (1), pp. 59-67. Date of Electronic Publication: 2023 Jun 26.
Publication Year :
2024

Abstract

Erdheim-Chester disease is a non-Langerhans cell histiocytosis syndrome characterised by histiocytic infiltration of different organs and systems in the body. Erdheim-Chester disease with isolated central nervous system (CNS) involvement causes diagnostic difficulties due to the absence of systemic findings and may result in misdiagnosis and inaccurate treatment choices. The case discussed in this report exemplifies how challenging it is to diagnose Erdheim-Chester disease with isolated CNS involvement. This case, which presented with progressive pyramidocerebellar syndrome, was clinically and radiologically resistant to all immunosuppressive and immunomodulatory treatments administered. The presence of false negative results in repeated histopathological investigations and the absence of evidence for systemic disease hindered the diagnosis and treatment work-up. In this study, we reviewed and discussed the prominent features of the presented case in light of the relevant literature.<br /> (© 2023 Japanese Society of Neuropathology.)

Details

Language :
English
ISSN :
1440-1789
Volume :
44
Issue :
1
Database :
MEDLINE
Journal :
Neuropathology : official journal of the Japanese Society of Neuropathology
Publication Type :
Review
Accession number :
37357975
Full Text :
https://doi.org/10.1111/neup.12930