SZTURZ, Petr, Libor HLAVATÝ, Jiří PRÁŠEK and Dana DVOŘÁKOVÁ. Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. USA: Springer, 2013. Available from: https://dx.doi.org/10.1007/s12185-013-1437-2.
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Basic information
Original name Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far
Authors SZTURZ, Petr (203 Czech Republic, guarantor, belonging to the institution), Libor HLAVATÝ (203 Czech Republic), Jiří PRÁŠEK (203 Czech Republic, belonging to the institution) and Dana DVOŘÁKOVÁ (203 Czech Republic, belonging to the institution).
Edition USA, 2013.
Publisher Springer
Other information
Original language English
Type of outcome Survey and educational texts
Field of Study 30200 3.2 Clinical medicine
Country of publisher Japan
Confidentiality degree is not subject to a state or trade secret
RIV identification code RIV/00216224:14110/13:00070504
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1007/s12185-013-1437-2
UT WoS 000325945000001
Keywords in English Erdheim–Chester disease; Schnitzler syndrome
Tags International impact, Reviewed
Changed by Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 28/4/2014 09:35.
Abstract
A 56-year-old male presented with diabetes insipidus, noninfectious fever, night sweats, and pain in both lower legs and pelvis. Developing gradually over a period of 9 years, these symptoms were accompanied by increased acute phase markers (C-reactive protein = 63 mg/L, erythrocyte sedimentation rate = 52 mm/h and 72 mm/2 h, fibrinogen = 6.5 g/L). Technetium-99m pyrophosphate bone scintigraphy showed abnormal tracer uptake predominantly in the long bones of the lower extremities, with additional hot spots in the skull, right shoulder, left humerus, and both radial bones (Fig. 1). Positron emission tomography (PET) identified a similar pattern of 18F-fluorodeoxyglucose uptake correlating with osteosclerotic lesions on conventional radiography (X-ray) and computed tomography(CT). Subsequently, histological findings of CD68- and S100-positive, CD1a-negative foamy histiocytes from a bone biopsy were compatible with Erdheim–Chester disease. Moreover, the obtained tissue samples were positive for BRAF V600E mutation on CE-IVD validated BRAF 600/601 StripAssay (ViennaLab Diagnostics GmbH, Austria).
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