A Diagnostic Challenge: Erdheim Chester Disorder

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 multip...

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Bibliographic Details
Published in:Molecular imaging and radionuclide therapy 2019-02, Vol.28 (1), p.30-33
Main Authors: Razi, Mairah, Qubtia, Maria, Hassan, Aamna, Hussain, Mudassar, Hameed, Abdul
Format: Article
Language:English
Subjects:
Autoimmune diseases
Central nervous system
Computed tomography
Diagnosis
Diagnostic systems
Histiocytosis
Histopathology
Immunohistochemistry
Informed consent
Interesting Image
Langerhans cell histiocytosis
Lesions
Medical diagnosis
Medical imaging
Medical prognosis
Mutation
Positron emission
Signs and symptoms
Survival analysis
Tıp
Tomography
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Description
Summary: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.
ISSN:2146-1414
2147-1959
DOI:10.4274/mirt.galenos.2018.72677