Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease

Radiology Case Reports

article

André Peixoto¹  Guilherme Martins¹  João Leitão¹ 

[1] Serviço de Imagiologia Geral, Centro Hospitalar Universitário Lisboa Norte

关键词: Erdheim-Chester disease;    Bone pain;    Diabetes insipidus;    Hairy kidney;    Coated aorta;    Right atrium pseudotumor;    Periorbital masses;   

DOI  :  10.1016/j.radcr.2022.08.097

学科分类：生物化学工程

来源: University of Washington * Department of Radiology

【 摘 要 】

Erdheim-Chester disease is a rare and multisystemic entity. It results from the infiltration of tissues by foamy histiocytes . 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 are the skeleton, central nervous system , cardiovascular system, kidney, lungs, and skin. The most common clinical manifestations are bone pain, usually in the lower limbs, and diabetes insipidus . The diagnosis is challenging. It requires a combination of clinical, radiological, histopathological, and molecular findings. We present the case of a patient with typical clinical and radiological manifestations: bone pain and diabetes insipidus at presentation, bilateral long bone cortical sclerosis , hairy kidney appearance, coated aorta, right atrium pseudotumor , and periorbital masses.

【 授权许可】

CC BY|CC BY-NC-ND