Erdheim-Chester disease with multisystem involvement evaluated by multimodal imaging: A case report

Area of Science:

• Radiology
• Histopathology
• Oncology

Background:

• Erdheim-Chester disease is a rare, multisystemic non-Langerhans cell histiocytosis with poorly understood imaging characteristics.
• Diagnosis often relies on biopsy, but multimodal imaging is crucial for assessing organ involvement.

Observation:

• A 54-year-old woman presented with Erdheim-Chester disease affecting the cardiovascular system, skeleton, retroperitoneum, orbit, and pituitary.
• Multimodal imaging (CT, MRI, echocardiography, bone scintigraphy) was utilized to evaluate organ infiltration.
• Electrocardiography revealed sick sinus syndrome with a heart rate as low as 20 beats/min.

Findings:

• Myocardial biopsy confirmed Erdheim-Chester disease.
• The patient underwent pacemaker implantation and interferon treatment, with stable cardiac lesions over 9 months.
• Radiological findings across multiple organs were analyzed retrospectively.

Implications:

• Familiarity with the diverse imaging features of Erdheim-Chester disease is vital for early and accurate diagnosis.
• Multisystemic involvement, particularly cardiac and neurological, is associated with a poor prognosis.
• This case underscores the importance of multimodal imaging in diagnosing rare histiocytic disorders.