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Published on: June 16, 2020
Case Report: Relapsing pleural effusions and coated aorta revealing Erdheim-Chester disease
Tiépé Rokia Ouattara1, Théo Pezel2, Gwenael Lorillon3
1Department of Internal Medicine, Lariboisière Hospital, Assistance Publique des hôpitaux de Paris (APHP), Université Paris Cité, Paris, France.
Erdheim-Chester disease (ECD) diagnosis can be challenging due to its rarity and varied symptoms. This case highlights recurrent pleural effusions as an unusual initial sign, with genetic testing confirming a MAP2K1 mutation.
Area of Science:
- Rare diseases
- Histiocytic disorders
- Oncology
Background:
- Erdheim-Chester disease (ECD) is a rare histiocytic disorder with diverse clinical presentations, often leading to diagnostic challenges.
- Manifestations range from asymptomatic to severe organ dysfunction, with bone pain being common but not universal.
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