This is, to our knowledge, the first case report with in-depth analysis of bone marrow and bone lesions with diffusion-weighted imaging and dynamic contrast-enhanced MRI in Erdheim-Chester disease to date. We present a case of a 70-year-old woman who was referred for an X-ray of the pelvis, right femur and right knee after complaints of migratory arthralgia in hip and knee five months after an initial hip and knee trauma. Bone lesions on X-ray were identified. This case report highlights the strength and complementary use of modern multimodality multiparametric imaging techniques in the clinical radiological manifestations of Erdheim-Chester disease, in the differential diagnosis and in treatment response assessment, which is classically performed using FDG PET-CT. Erdheim-Chester disease is a rare form of non-Langerhans' cell histiocytosis, mainly affecting individuals in their fifth-seventh decade of life and without sex predominance. Apart from the typical bilateral symmetric lesions in long bone diaphyseal and metaphyseal regions and classically sparing the epiphyses, this multisystemic disease causes significant morbidity by infiltrating critical organs (the central nervous system, cardiovascular system, retroperitoneum, lungs and skin). With non-traumatic bone pain being the most common complaint, Erdheim-Chester disease is diagnosed most often in an incidental setting on imaging. The imaging workup classically consists of a multimodality approach using conventional radiography, CT, MRI, bone scintigraphy and FDG PET-CT. This case report extends this evaluation with diffusion-weighted imaging and dynamic contrast-enhanced imaging techniques.
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http://dx.doi.org/10.1007/s00256-022-04265-5 | DOI Listing |
Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
View Article and Find Full Text PDFAm J Hematol
January 2025
Division of Rheumatology, Mayo Clinic, Rochester, Minnesota, USA.
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Department of Pharmaceutical Technology, Shree S K Patel College of Pharmaceutical Education and Research, Ganpat University, 384012, Mahesana, Gujarat, India.
Erdheim-Chester disease (ECD) is a rare form of non-LCH characterized by excessive accumulation of histiocytes in various tissues, leading to significant morbidity. The estimated prevalence of ECD is low, with fewer than 1000 cases reported globally, yet it presents considerable clinical challenges due to its heterogeneous manifestations, which include bone pain, cardiovascular complications, and neurological symptoms. Traditional treatment approaches, primarily involving corticosteroids and chemotherapy, have limitations, including inconsistent responses and significant side effects.
View Article and Find Full Text PDFNeurol Neurochir Pol
January 2025
Department of Neurology, Medical College, Jagiellonian University, Krakow, Poland.
Rheumatology (Oxford)
January 2025
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.
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