Ces radiol. 2024, 78(4):219-224 | DOI: 10.55095/CesRadiol2024.031

Erdheim-Chester disease - radiologic findings of the rare multisystemic diseaseCase report

Jiřina Řezáčová¹, Tomáš Kvasnička¹, Petr Dvořák¹, Ondřej Slezák¹, Jan Tilšer²

¹ Radiologická klinika FN, Hradec Králové

² Oddělení nukleární medicíny FN, Hradec Králové

Erdheim-Chester disease (ECD) is an uncommon form of non-Langerhans cell histiocytosis affecting multiple systems. The etiology is unknown, but there are mutations in the MAPK pathway in over 80% of patients, more frequently BRAF mutation. The most commonly affected organs and systems include skeleton, cardiovascular system, brain, neuroendocrine system and retroperitoneum. The most common clinical manifestations are bone pain, usually in the lower limbs, diabetes insipidus, seizures, pontocerebellar dysfunction, arrhytmias, myocardial ischaemia, possibly heart failure. The diagnosis is challenging. It requires knowledges of clinical symptoms with more typical radiological findings and it is confirmed by genetic molecular testing. We present the case of a patient with relatively typical radiological manifestations: bilateral long bone sclerosis, retroperitoneal perirenal infiltration, right atrium psedotumor, intraorbital and leptomeningeal masses and infundibular expansion.

Keywords: BRAF mutation, Erdheim-Chester disease, non-Langerhans histiocytosis.

Accepted: October 10, 2024; Published: December 12, 2024  Show citation