ArticleBMJ case reports2018
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease.
Article in BMJ case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes.Blood advances · 2025Article
- An Autopsied Case of Erdheim-Chester Disease with Severe Cardiovascular Involvement.Internal medicine (Tokyo, Japan) · 2025Article
- The Relevance and Potential Role of Orbital Fat in Inflammatory Orbital Diseases: Implications for Diagnosis and Treatment.Ophthalmology and therapy · 2025Review
- Article
- Erdheim-Chester Disease With Extensive Pericardial Involvement: A Case Report and Systematic Review.Cardiology research · 2020Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 69-year-old woman suffering from exophthalmos and facial pain came to us referred for aetiological diagnosis of exophthalmos. Orbital MRI showed thinned extrinsic ocular musculature, intraconal fat infiltration, retro-ocular compression and thickening of maxillary and sphenoid sinus walls. She had been suffering from diabetes insipidus for the last 7 years. During our diagnosis process, she presented signs of cardiac tamponade. Transthoracic heart ultrasound revealed large pericardial effusion and a heterogeneous mass that compressed the right ventricle. No osteosclerotic lesions on appendicular bones were present. Pericardiocentesis temporarily controlled tamponade and corticoid therapy temporarily abated exophthalmos. Pericardiectomy definitively resolved tamponade. Histological examination of pericardial tissue was conclusive of Erdheim-Chester disease. Exophthalmos responded to pegylated interferon-alpha-2a. Facial bone pain disappeared after zoledronic acid and interferon treatment. During interferon therapy, the patient suffered from a severe generalised desquamative exanthema that slowly resolved after discontinuing interferon. Diabetes insipidus remains controlled with desmopressin.
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