Erdheim-Chester Disease with Pancreatic Enlargement Observed Using Contrast-enhanced Endoscopic Ultrasonography

Area of Science:

• Oncology
• Pathology
• Radiology

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with diverse clinical manifestations.
• ECD typically involves retroperitoneal, cardiovascular, and skeletal systems, with pancreatic involvement being exceptionally uncommon.

Purpose of the Study:

• To report an unusual case of ECD presenting with significant pancreatic enlargement.
• To emphasize the diagnostic challenges posed by atypical ECD presentations.
• To highlight the utility of advanced endoscopic ultrasound techniques in diagnosing ECD.

Main Methods:

• Case report of a patient diagnosed with Erdheim-Chester disease.
• Utilized contrast-enhanced harmonic endoscopic ultrasonography (CEH-EUS) for detailed lesion assessment.
• Performed EUS-fine needle aspiration (EUS-FNA) for cytopathological diagnosis.

Main Results:

• The patient presented with unique symptoms and extensive organ involvement, including marked pancreatic enlargement.
• CEH-EUS successfully identified and characterized pancreatic lesions consistent with ECD.
• EUS-FNA provided a definitive diagnosis of ECD, confirming pancreatic involvement.

Conclusions:

• ECD can present with atypical organ involvement, such as diffuse pancreatic enlargement.
• CEH-EUS is a superior imaging modality for evaluating elusive ECD lesions, particularly in the pancreas.
• EUS-FNA is an indispensable tool for diagnosing rare conditions like ECD with pancreatic manifestations.