e 2013

Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far

SZTURZ, Petr, Libor HLAVATÝ, Jiří PRÁŠEK and Dana DVOŘÁKOVÁ

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

Language

English

Type of outcome

Přehledové a vzdělávací texty

Field of Study

30200 3.2 Clinical medicine

Country of publisher

Japan

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14110/13:00070504

Organization unit

Faculty of Medicine

DOI

UT WoS

000325945000001

Keywords in English

Erdheim–Chester disease; Schnitzler syndrome

Tags

International impact, Reviewed
Změněno: 28/4/2014 09:35, Ing. Mgr. Věra Pospíšilíková

Abstract

V originále

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).