Case Session 05: Systemic and Inflammatory Disease (2018)-The classic cardiac involvment in Erdheim-Chester disease

The classic cardiac involvment in Erdheim-Chester disease

Video Transcription

Video Summary

A previously hypertensive 6-year-old boy presented with subacute diffuse abdominal pain. Abdominal ultrasound showed bilateral retroperitoneal infiltration with “hairy kidney” appearance, raising suspicion for Erdheim-Chester disease. CT and ultrasound-guided biopsy confirmed the diagnosis, showing non-Langerhans histiocytes (CD68 positive, S100 negative). Abdominal CT also revealed a large pericardial effusion, prompting cardiac evaluation. ECG and chest X-ray were nonspecific, while echocardiography confirmed the effusion without tamponade and preserved ventricular function. Cardiac MRI showed typical Erdheim-Chester involvement: right coronary artery, right atrial wall, and interatrial septum infiltration, with sparing of the fossa ovalis.

Keywords

Erdheim-Chester disease

hairy kidney

retroperitoneal infiltration

pericardial effusion

cardiac MRI