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Erdheim-Chester Disease: A Case Report Exploring Multisystemic Involvement.

Francisco Antunes¹, Rúben Maia², Sara Henriques³

¹Radiology, Unidade Local de Saúde Vila Nova de Gaia | Espinho, Vila Nova de Gaia, PRT.

|December 31, 2024

Summary

Erdheim-Chester disease (ECD) is a rare multisystemic neoplasm. Early diagnosis and a multidisciplinary approach integrating clinical, imaging, and pathology are crucial for managing this condition.

Keywords:

18f-fdg pet/ct erdheim-chester genetics neurology oncology radiology

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Area of Science:

Oncology
Pathology
Radiology

Background:

Erdheim-Chester disease (ECD) is a rare, multisystemic, non-Langerhans cell histiocytic neoplasm.
It predominantly affects middle-aged males and often presents with nonspecific symptoms, delaying diagnosis.

Observation:

A case of an 85-year-old male with extensive multisystemic ECD is presented.
Manifestations included retroperitoneal, skeletal, vascular, cardiac, orbital, and central nervous system (CNS) involvement.
Characteristic imaging findings included bilateral osteosclerosis, perirenal infiltration (hairy kidney sign), and dural-based intracranial masses.

Findings:

Histopathological analysis confirmed ECD, identifying CD68+ histiocytes.
The BRAFV600E mutation was detected, a key molecular marker for ECD.
The patient's management involved initial Internal Medicine care followed by Hemato-Oncology referral.

Implications:

This case underscores the importance of a high index of suspicion for diagnosing rare disorders like ECD.
A multidisciplinary approach integrating clinical, radiological, and histopathological data is essential for effective patient management.
Timely diagnosis and tailored treatment strategies can improve outcomes for patients with Erdheim-Chester disease.