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Unusual manifestation of Erdheim-Chester disease

DOI: 10.1186/1471-230x-11-77

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Abstract:

This case report describes the case of a 69-year-old man who presented otherwise well to the gastroenterology department with unspecific abdominal symptoms, nausea, vomiting and weight loss. ECD involving the gastrointestinal tract was confirmed clinically, radiologically and histologically.Gastroenterological manifestation of ECD is rare but should be considered in the differential diagnosis in patients presenting with evidence of multi-organ disease and typical radiological features of Erdheim-Chester disease elsewhere.Erdheim-Chester Disease (ECD) is a rare multisystem histiocytosis characterized by the xanthomatous or xanthogranulomatous infiltration of tissues with histiocytes, surrounded by fibrosis. The disease can affect multiple organs systems, but gastrointestinal involvement, is exceedingly rare. We describe here the case of a 69-year old man with ECD who presented to the gastroenterology department with unspecific abdominal symptoms, nausea, vomiting and weight loss.A previously fit and well 69-year-old man was admitted to the gastroenterology department with a short one month history of lethargy, decreased appetite, persistent vomiting, significant weight loss of six kilograms over 1 month and a dry cough. He denied abdominal pain, haematemesis, dysphagia and a change in bowel habit and described no cardiac, respiratory, neurological symptoms or bone pain. His past medical history includes appendectomy and total hip joint replacement. At the time of admission, he was not on any regular medication.Physical examination revealed that he was febrile (38.8C°) and appeared cachexic but with no peripheral stigmata of chronic liver disease. His abdominal examination revealed hepatomegaly but no other organomegaly, per rectal examination was unremarkable. His cardiopulmonary examinations were unremarkable apart from bilateral pitting edema up to his ankles. Peripheral blood analysis revealed an anaemia of chronic disease with hemoglobin of 108 g/L (norm - male 1

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