Issue: Vojnosanit Pregl 2017; Vol. 74 (No. 6)

Erdheim-Chester disease – A case report

Authors:
Stanko Petrović, Radoje Doder, Nenad Perišić, Marijana Petrović, Irina Brčerević, Branka Roganović

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Introduction. Erdheim-Chester disease (ECD) is a rare non-Langerhans-cell histiocytosis. About 500 cases are pub-lished so far. It is multisystemic disease characterised by bi-lateral symmetric long bones sclerosis. Main histopathologi-cal finding is accumulation of big foamy histiocytes, immu-nohistochemically positive to CD68, and negative to S-100 and CD1a. There are no guidelines that reliably identify population that requires therapy, but symptomatic ECD, organ failure and central nervous system involvement re-quire treatment. Case report. We described a patient with a multisystemic form of ECD affecting long bones, the hy-pophysis, abdomen, and the peripheral nerves. Five years after initial symptoms ECD was suspected. Prednison was initiated, 60 mg once a day. After obtaining the diagnosis of ECD, interferon alpha 2A was introduced, but soon after stopped due to severe side effects. Considering that histio-cytes were positive to platelet derived growth factor recep-tor alpha (PDGFR alpha) imatinib mesylate was started, but after two months stopped due to no clinical and radiological improvement. The disease was worsening and the patient died. Conclusion. We described the patient with intraperi-toneal form of ECD, without cardiac and pulmonary in-volvement. There are several important issues: the diagnosis of ECD could be difficult to make, three treatment regi-mens were included and the patient died nine years after the initial symptoms due to indolent course of the disease and unsuccessful treatment.