Erdheim–Chester disease in a child

Clerico, Aldo; G, Ragni; Cappelli, Carlo; Schiavetti, Amalia; Gonfiantini, Michaela Veronika; Uccini, Stefania

doi:10.1002/mpo.10402

Cited by 30 publications

(20 citation statements)

References 13 publications

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“…Because of the small number of patients, effictiveness of these drugs is difficult to appreciate. Nevertheless, isolated clinical improvement was reported with 2cda [41], azathioprine [23], and methotrexate [23] and stabilization with vinblastine and etoposide [2,11,50]. 16 patients (29%) underwent radiotherapy (from 18 to 40 Grays), with inconsistent results.…”

Section: Resultsmentioning

confidence: 90%

“…Myocardial or pericardial involvement, which could sometimes be severe and be responsible for death, was reported; asymptomatic aortic lesions (''coated aorta'' appearance ) were also described [24,47]. Interstitial lung disease [14], pleural thickening or effusion, orchitis [44], mastitis [11], hepatitis [25,48], pancreatitis [30,43], infiltration of the larynx [30], the parathyroid glands, or the adrenal glands [53] were less frequently described.…”

Section: Resultsmentioning

confidence: 97%

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Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature

et al. 2006

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Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI. A literature review revealed 60 other cases of ECD with neurological involvement. We therefore analyzed 66 ECD patients with neurological involvement. Cerebellar and pyramidal syndromes were the most frequent clinical manifestations (41% and 45% of cases), but seizures, headaches, neuropsychiatric or cognitive troubles, sensory disturbances, cranial nerve paralysis or asymptomatic lesions were also reported. Neurological manifestations were always associated with other organ involvement, especially of bones (at least 86%) and diabetes insipidus (47%). Neurological involvement was responsible for severe functional handicaps in almost all patients and was responsible for the death of 6 of the 66 patients (9%). Neuroradiological findings could be separated into three patterns: the infiltrative pattern (44%), with widespread lesions, nodules or intracerebral masses, the meningeal pattern (37%), with either thickening of the dura mater or meningioma-like tumors, and the composite pattern (19%), with both infiltrative and meningeal lesions.

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Section: Resultsmentioning

confidence: 90%

Section: Resultsmentioning

confidence: 97%

Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature

et al. 2006

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“…88,89 Of note, direct implementation of LCH-protocol therapies to children with ECD was unsuccessful in 2 cases. 66,90 Disease surveillance, treatment duration, and prognosis FDG-PET should be performed every 3 to 6 months for all patients following the initiation of treatment (Grade C0), and the interval between scans can be increased once disease has stabilized. 91 Organ-specific imaging of affected organs should be performed every 3 months initially after beginning treatment, every 6 months once disease stabilization is achieved, or earlier as indicated by a change in clinical status or laboratory values such as renal function (Grade C2).…”

Section: Treatmentmentioning

confidence: 99%

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

Diamond

Dagna

Hyman

et al. 2014

Blood

516

695

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Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis. Recent findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E mutations in >50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although ∼500 to 550 cases have been described in the literature to date, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies. Given the protean clinical manifestations and the lack of a consensus-derived approach for the management of ECD, we provide here the first multidisciplinary consensus guidelines for the clinical management of ECD. These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD. Detailed recommendations on the initial clinical, laboratory, and radiographic assessment of ECD patients are presented in addition to treatment recommendations based on critical appraisal of the literature and clinical experience. These formalized consensus descriptions will hopefully facilitate ongoing and future research efforts in this disorder. (Blood. 2014;124(4):483-492)

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“…This disease usually occurs in middle-aged to older patients, with some possible cases described in the paediatric population, and has a slight male predominance [3–5]. Its aetiology and pathogenesis remain unknown because of the rarity of the disease [6], but a hereditary origin or infectious process has been excluded [4].…”

Section: Introductionmentioning

confidence: 99%

Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings

2014

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BackgroundErdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.MethodsBoth radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions.ResultsThe prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile.ConclusionThe aims of this work are to perform a systematic review of Erdheim-Chester disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation.Teaching points• Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD.• The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic.• Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis.• Perirenal infiltration extending to the proximal ureter is highly suggestive of this disease.

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Erdheim–Chester disease in a child

Abstract: [No abstract available

Cited by 30 publications

References 13 publications

Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature

Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings

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