Erdheim-Chester Disease: A Rare Clinical Entity

Authors

• Margarida Oliveira Department of Medicine, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos, Matosinhos, Portugal
• Sofia Monteiro Department of Medicine, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos, Matosinhos, Portugal
• Joana dos Santos Pathology Department, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos, Matosinhos, Portugal
• Ana Catarina Silva Radiology Department, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos, Matosinhos, Portugal
• Rute Morais Ferreira Department of Medicine, Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos, Matosinhos, Portugal

Margarida.SaavedraOliveira@ulsm.min-saude.pt

Keywords

Abstract

Pericardial effusion represents a diagnostic challenge. Erdheim-Chester disease (ECD), though a rare cause, should be considered in the differential diagnosis. An 88-year-old woman was admitted to the hospital due to retrosternal pain, dyspnoea and constitutional symptoms. Hypoxaemic respiratory failure and increased inflammatory markers were documented. A chest x-ray revealed an increased cardiothoracic ratio. An echocardiogram showed a moderate-volume pericardial effusion, without signs of cardiac tamponade. A thoraco-abdomino-pelvic CT scan found a bilateral perirenal soft tissue halo. Perirenal mass biopsy showed diffuse infiltration by foamy histiocytes (CD68+), without IgG4, compatible with ECD. The correlation of anamnesis, radiology and histology is crucial for the diagnosis of ECD.