Cerebral, Facial, and Orbital Involvement in Erdheim-Chester Disease: CT and MR Imaging Findings

Drier, Aurélie; Haroche, Julien; Savatovsky, Julien; Godenèche, G.; Dormont, Didier; Chiras, J.; Amoura, Zahir; Bonneville, Fabrice

doi:10.1148/radiol.10090320

Cited by 168 publications

(167 citation statements)

References 24 publications

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“…Apart from the view of functional status of hypothalamic-infundibulo-pituitary axis, there is a report investigating the brain images in ECD patients [35]. In this report, it has been reported that hypothalamic-pituitary axis was involved in 16 (47%) of 33 ECD patients, most frequently, 14 showed loss of T1-high intensity at posterior lobe and 6 showed thickened stalk.…”

Section: Hypothalamic-pituitary Imaging In Ecdmentioning

confidence: 88%

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

2014

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Section: Hypothalamic-pituitary Imaging In Ecdmentioning

confidence: 88%

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

2014

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“…Only three patients had normal imaging results [36], and two or more different anatomic sites were affected in most patients. Lesions are frequent in the brain, meninges, facial bones, and orbits in ECD patients.…”

Section: Cns Involvementmentioning

confidence: 96%

Erdheim–Chester Disease

et al. 2014

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Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases worldwide), non-inherited, nonLangerhans form of histiocytosis of unknown origin, first described in 1930. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden" macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+ CD1a− in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+ CD1a+. 99 Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on abdominal CT scan is observed in approximately half of ECD cases. Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α), and prolonged treatment significantly improves survival; however, tolerance may be poor. Cases of ECD present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance associated with the disease. More than half of ECD patients carry the BRAF V600E mutation, an activating mutation of the protooncogene BRAF. A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was proved very beneficial.

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“…Bone scintigraphy reveals symmetrically increased radionuclide uptake at the level of the distal femoral diaphyses and metaphyses, a quite distinctive finding of the disease (E). hemispheres 30,35,36 . The dentate nucleus may show abnormal symmetric high signal intensity on T2WI that can also be found in the middle cerebellar peduncles.…”

Section: Mri Findings and Differentialmentioning

confidence: 99%

“…If the exact origin of these nongranulomatous lesions remains unknown, histological examination of these dentate nuclei lesions can be performed to reveal extensive loss of myelin sheath tissue, with gliosis and marked sparing of axons 35 . Meningeal lesions and meningioma-like mass lesions: either a single/multiple dural mass, or diffuse pachymeningeal thickening, or even both of those 32,35 . Parasellar lesions have also been reported, which may infiltrate the cavernous sinus 22 .…”

Section: Mri Findings and Differentialmentioning

confidence: 99%

“…These infiltrations should be detected before catastrophic symptoms related to stroke develop. Lesions in venous sinuses are extremely rare, which may be occlusive 35 . At MRI, these intracranial masses often had low signal intensity on T2WI, an isointense signal on T1WI, and intense homogeneous enhancement on gadoliniumenhanced T1WI.…”

Section: Mri Findings and Differentialmentioning

confidence: 99%

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Histiocytosis: a review focusing on neuroimaging findings

Gabbay

Leite

Andriola

et al. 2014

Arq. Neuro-Psiquiatr.

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Objective: Histiocytosis is a systemic disease that usually affects the central nervous system. The aim of this study is to discuss the neuroimaging characteristics of Langerhans cell histiocytosis (LCH), the most common of these diseases; and the non-Langerhans cells histiocytosis (NLCH), which includes entities such as hemophagocytic syndrome, Erdheim-Chester and Rosai-Dorfman diseases. Method: Literature review and illustrative cases with pathologic confirmation. Results: In LCH, the most common findings are 1) osseous lesions in the craniofacial bones and/or skull base; 2) intracranial, extra-axial changes; 3) intra-axial parenchymal changes (white and gray matter); 4) atrophy. Among the NLCH, diagnosis usually requires correlation with clinical and laboratory criteria. The spectrum of presentation includes intraparenchymal involvement, meningeal lesions, orbits and paranasal sinus involvement. Conclusion: It is important the recognition of the most common imaging patterns, in order to include LCH and NLCH in the differential diagnosis, whenever pertinent.Keywords: Langerhans cells histiocytosis, non-Langerhans cells histiocytosis, Rosai-Dorfman, hemophagocytic syndrome, ErdheimChester. RESUMOObjetivo: Histiocitose é uma doença sistêmica que, frequentemente, acomete o sistema nervoso central. Este trabalho propõe discutir as características de neuroimagem da histiocitose de células de Langerhans (HCL), mais comum; e as histiocitoses não-Langerhans (HNL), como a síndrome hemofagocítica, doenças de Erdheim-Chester e Rosai-Dorfman. Método: Revisão de literatura, com demonstração de casos confirmados por anatomopatológico. Resultados: Na HCL os achados mais comuns são: 1) lesões ósseas craniofaciais e da base do crânio; 2) lesões intracranianas, extra-axiais; 3) acometimento parenquimatoso intra-axial na substância cinzenta ou branca; 4) atrofia. Dentre as HNL, o diagnóstico, em geral, exige correlação com critérios clínico-laboratoriais. O espectro de apresentação das mesmas inclui acometimento intraparenquimatoso, lesões meníngeas, envolvimento orbitário e das cavidades paranasais. Conclusão: É importante o reconhecimento dos padrões de imagem mais comuns, para que HCL e HNL sejam incluídas no diagnóstico diferencial, sempre que pertinente.

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Cerebral, Facial, and Orbital Involvement in Erdheim-Chester Disease: CT and MR Imaging Findings

Abstract: Lesions of the brain, meninges, facial bones, and orbits are frequently observed and should be systematically sought on the brain MR and CT images obtained in patients with ECD, even if these patients are asymptomatic. Careful attention should be directed to the periarterial environment.

Cited by 168 publications

References 24 publications

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

Erdheim–Chester Disease

Histiocytosis: a review focusing on neuroimaging findings

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