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A Diagnostic Challenge: Erdheim Chester Disorder

Authors
  • Razi, Mairah1
  • Qubtia, Maria2
  • Hassan, Aamna1
  • Hussain, Mudassar3
  • Hameed, Abdul2
  • 1 Shaukat Khanum Memorial Cancer Hospital and Research Centre, Clinic of Nuclear Medicine, Lahore, Pakistan
  • 2 Shaukat Khanum Memorial Cancer Hospital and Research Centre, Clinic of Medical Oncology, Lahore, Pakistan
  • 3 Shaukat Khanum Memorial Cancer Hospital and Research Centre, Clinic of Pathology, Lahore, Pakistan
Type
Published Article
Journal
Molecular Imaging and Radionuclide Therapy
Publisher
Galenos Publishing
Publication Date
Feb 01, 2019
Volume
28
Issue
1
Pages
30–33
Identifiers
DOI: 10.4274/mirt.galenos.2018.72677
PMID: 30942060
PMCID: PMC6455103
Source
PubMed Central
Keywords
License
Green

Abstract

Erdheim-Chester disease (ECD) is a rare, multisystemic, idiopathic disease often associated with BRAF V600E mutation. Its diagnosis is typically delayed and challenging due to its variable manifestations. Although it has an indolent course, advanced stages can manifest fulminant behavior with multiple vital organ involvement. It is a class 2a, non-Langerhans cell histiocytosis with characteristic radiological appearance. Whole body imaging might be helpful, particularly, to assess skeletal lesions. Although widespread disease with typical skeletal involvement on imaging can prompt diagnosis, histopathology with immunohistochemistry is required for confirmation. The disease can also manifest itself with a large variety of central nervous system related or orbital symptoms. Cardiac involvement is quite common. We present an interesting image of a patient with ECD who underwent PET/CT. Informed consent of the subject described in this image is waived by the Institutional Review Board.

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