scholarly journals Rare Form of Erdheim-Chester Disease Presenting with Isolated Central Skeletal Lesions Treated with a Combination of Alfa-Interferon and Zoledronic Acid

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
E. N. Bulycheva ◽  
V. V. Baykov ◽  
M. I. Zaraĭskiĭ ◽  
G. N. Salogub

Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid.

2020 ◽  
Vol 7 (1) ◽  
pp. 22
Author(s):  
Rémie Philippe Elia ◽  
ATALLAH Adnan ◽  
AKIKI Béatrice ◽  
WAKED Hani ◽  
ZEIDAN Marwan ◽  
...  

Erdheim Chester disease is a rare form of non-Langerhans histiocytosis with frequent BRAF V600E mutations. It is mainly characterized by multifocal osteosclerotic bone lesions with or without systemic involvement. The histologic image is consistent with a histiocytic proliferation of foamy cells in a polymorphic background. The main difference from the Langerhans histiocytosis is the immune profile with mainly S100, CD1a, and langerin negative. The overall prognosis is dependent on extraskeletal involvement. Herein, we present a typical presentation of Erdheim Chester disease with a review of the literature.


2009 ◽  
Vol 30 (5) ◽  
pp. 651-654 ◽  
Author(s):  
Aziza Mounach ◽  
Abderrzak Nouijai ◽  
Lahsen Achemlal ◽  
Abdellah El Maghraoui ◽  
Ahmed Bezza

2016 ◽  
Vol 83 (5) ◽  
pp. 573-575 ◽  
Author(s):  
Lucile Poiroux ◽  
Frédéric Paycha ◽  
Marc Polivka ◽  
Hang-Korng Ea

2022 ◽  
Vol 17 (3) ◽  
pp. 525-530
Author(s):  
Rene Epunza Kanza ◽  
Olivier Houle ◽  
Pierre-Luc Simard ◽  
Jonathan St-Gelais ◽  
Catherine Raymond

2017 ◽  
Vol 31 (4) ◽  
pp. 399-402 ◽  
Author(s):  
Jillian Berkman ◽  
Caleb Ford ◽  
Emily Johnson ◽  
Beth A Malow ◽  
Joseph M Aulino

Introduction Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory central nervous system (CNS) disorder with particular involvement of the pons. Diagnostic criteria include a range of clinical symptoms related to the underlying brainstem pathology, visible with magnetic resonance imaging (MRI). MRI findings include the appearance of punctuate and curvilinear gadolinium enhancement ‘peppering’ the pons. We discuss a patient presenting with clinical and radiographic characteristics of CLIPPERS who was diagnosed with Erdheim–Chester disease (ECD). Case report A 52-year-old male presented with 2 years of progressive spasticity, dysarthria, and gait instability. Initially, he was diagnosed with Parkinson’s disease at an outside hospital, based on tremor, rigidity, and gait instability; however, he failed to improve with a trial of levodopa. Brain MRI showed small enhancing parenchymal nodules coalescing in the central pons, but also affecting the cerebellum and cerebellar peduncles, with more punctate enhancing lesions in the cerebral lobar subcortical white matter. When the patient’s response to steroids was inadequate, further imaging was done, revealing perinephric processes. Subsequent biopsy revealed ECD. Conclusions A review of the literature for cases of CLIPPERS demonstrated a subset of patients later found to have various malignancies involving the CNS. This case report uses the patient’s unique radiographic and clinical presentation to demonstrate the importance of the exclusion criteria within the CLIPPERS diagnostic requirements and stresses red flags suggestive of alternative diagnoses. This distinction is of high importance when differentiating a relatively benign process such as CLIPPERS from more malignant diseases.


2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
HR Mahoozi ◽  
A Zittermann ◽  
K Hakim-Meibodi ◽  
J Gummert ◽  
N Mirow

Orbit ◽  
2016 ◽  
Vol 35 (4) ◽  
pp. 221-226 ◽  
Author(s):  
Helen Merritt ◽  
Margaret L. Pfeiffer ◽  
Karina Richani ◽  
Margaret E. Phillips

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