scholarly journals Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Roaa Ridha Amer ◽  
Sara Mohammed Qubaiban ◽  
Eman Abdulkarim Bakhsh
Keyword(s):  
Cavernous Sinus ◽  
Visual Loss ◽  
Brain Magnetic Resonance Imaging ◽  
Empty Sella ◽  
Erdheim Chester Disease ◽  
Pulmonary Manifestations ◽  
Magnetic Resonance Imaging Mri ◽  
One Year ◽  
Erdheim Chester ◽  
Chester Disease

Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect skeletal, neurological, dermatological, retroperitoneal, cardiac, and pulmonary manifestations. Here we describe a case of ECD in a 45-year-old female who presented initially with bilateral knee pain and homonymous superior quadrantanopia progressed to ophthalmoplegia and complete visual loss of the left eye over a period of one year. Plain X-ray of both knees showed bilateral patchy sclerosis of the distal femur and upper parts of the tibiae. Initial brain magnetic resonance imaging (MRI) showed bilateral enhancing masses in the temporal lobes anterior to the temporal horns, thickening of the pituitary stalk, partially empty sella, and involvement of the left cavernous sinus one year later. Our case is a peculiar case of ECD initially presented with unilateral homonymous superior quadrantanopia due to involvement of the visual apparatus in the mesial temporal lobe which progressed to unilateral ophthalmoplegia and total visual loss secondary to involvement of the cavernous sinus. Thus, the diagnosis of ECD should be kept in mind in the presence of bilateral bone sclerotic lesions.

scholarly journals Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision

2015 ◽  
Vol 4 (9) ◽  
pp. 205846011559227 ◽  
Author(s):  
Andrea Ponsiglione ◽  
Marta Puglia ◽  
Luigi Barbuto ◽  
Raffaele Solla ◽  
Michele Altiero ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Cardiac Involvement ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Rare Form ◽  
Erdheim Chester Disease ◽  
Central Nervous Systems ◽  
Magnetic Resonance Imaging Mri ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis, characterized by the involvement of several organs. The lesions may be skeletal or extra-skeletal: in particular, long bones, skin, lungs, and the cardiovascular and the central nervous systems can be affected. In this report, we describe a case of a 34-year-old man, who came to our observation with symptomatic ECD, for a correct assessment of the degree of cardiac involvement through magnetic resonance imaging (MRI).

Reproducible and Sustained Efficacy of Targeted Therapy With Vemurafenib in Patients With BRAFV600E-Mutated Erdheim-Chester Disease

2015 ◽  
Vol 33 (5) ◽  
pp. 411-418 ◽  
Author(s):  
Julien Haroche ◽  
Fleur Cohen-Aubart ◽  
Jean-François Emile ◽  
Philippe Maksud ◽  
Aurélie Drier ◽  
...  
Keyword(s):  
Evaluation Criteria ◽  
Braf Inhibitor ◽  
Standardized Uptake Value ◽  
Sustained Efficacy ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Surface Measurements ◽  
Magnetic Resonance Imaging Mri ◽  
Erdheim Chester ◽  
Chester Disease

Purpose Histiocytoses are rare disorders with heterogeneous prognosis. BRAFV600E mutations have been observed in half of patients with Langerhans cell histiocytosis (LCH) and in 50% to 100% of patients with Erdheim-Chester disease (ECD) patients. We recently reported short-term efficacy of a BRAF inhibitor (vemurafenib) in three patients with multisystemic ECD. Patients and Methods Vemurafenib was given to eight patients with multisystemic ECD with CNS and/or cardiac involvement. All patients were refractory to first-line treatment and harbored a BRAFV600E mutation. Four patients also had LCH lesions. Positron emission tomography (PET) scan response at month 6 was used as the main evaluation criterion. Secondary evaluation criteria were comparison at baseline and at last visit of PET and of cardiovascular and cerebral infiltrations (computed tomography scan and magnetic resonance imaging [MRI]). Results All patients were partial metabolic responders at 6 months of vemurafenib, and the median reduction in maximum standardized uptake value was 63.5% (range, 41.3% to 86.9%). Evaluation of cardiac and aortic infiltrations showed that seven patients had a partial response and one patient had stable disease according to surface measurements derived from RECIST criteria. The four patients with infratentorial CNS infiltration had an objective decrease of the lesions on MRI. All patients had an improvement of general symptoms and a persistent response to vemurafenib, with a median follow-up time of 10.5 months (range, 6 to 16 months). Skin adverse effects were frequent and severe. Conclusion Vemurafenib has an objective and sustained efficacy in BRAFV600E-mutated ECD as second-line therapy. In contrast to melanoma, no resistance has emerged to date after 6 to 16 months.

scholarly journals Symptomatic empty sella syndrome: an unusual manifestation of Erdheim–Chester disease

2015 ◽  
Vol 2015 ◽  
Author(s):  
Wann Jia Loh ◽  
Kesavan Sittampalam ◽  
Suan Cheng Tan ◽  
Manju Chandran
Keyword(s):  
Bone Biopsy ◽  
Empty Sella ◽  
List Type ◽  
Empty Sella Syndrome ◽  
Multiple Organs ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Secondary Hypoadrenalism ◽  
Erdheim Chester ◽  
Chester Disease

Summary Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography–computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy. Learning points ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68+ CD1a− S100− histiocytes surrounded by fibrosis. The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD. Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

scholarly journals Misdiagnosis: CNS Erdheim–Chester disease mimicking CLIPPERS

2017 ◽  
Vol 31 (4) ◽  
pp. 399-402 ◽  
Author(s):  
Jillian Berkman ◽  
Caleb Ford ◽  
Emily Johnson ◽  
Beth A Malow ◽  
Joseph M Aulino
Keyword(s):  
Case Report ◽  
Clinical Symptoms ◽  
Brain Mri ◽  
Subcortical White Matter ◽  
Mri Findings ◽  
Erdheim Chester Disease ◽  
Benign Process ◽  
Magnetic Resonance Imaging Mri ◽  
Erdheim Chester ◽  
Chester Disease

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.

Case report of Erdheim-Chester disease in a female cardiac surgery patient

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
HR Mahoozi ◽  
A Zittermann ◽  
K Hakim-Meibodi ◽  
J Gummert ◽  
N Mirow
Keyword(s):  
Cardiac Surgery ◽  
Case Report ◽  
Cardiac Surgery Patient ◽  
Erdheim Chester Disease ◽  
Surgery Patient ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester Disease Presenting with Histiocytic Colitis and Cytokine Storm

2017 ◽  
Vol 26 (2) ◽  
pp. 183-187
Author(s):  
George P. Christophi ◽  
Yeshika Sharma ◽  
Quader Farhan ◽  
Umang Jain ◽  
Ted Walker ◽  
...  
Keyword(s):  
Periodic Acid ◽  
Poor Response ◽  
Rare Type ◽  
Periodic Acid Schiff ◽  
Hematopoietic Stem ◽  
Hemodynamic Compromise ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Segmental Colitis

Background: Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome.Case presentation: A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock.Conclusion: This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signaling should be considered.Abbreviations: AFB: acid-fast bacilli; ECD: Erdheim-Chester Disease; IBD: inflammatory bowel disease; PASD: periodic acid-Schiff with diastase; TB: tuberculosis

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