Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Sedrak, Peter; Ketonen, Leena; Hou, Peimin; Guha-Thakurta, Nandita; Williams, Michelle D.; Kurzrock, Razelle; Debnam, J. Matthew

doi:10.3174/ajnr.a2707

Cited by 63 publications

(68 citation statements)

References 19 publications

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“…22,24,27,32 Hypothalamus-pituitary axis involvement may be seen as a single micronodular or nodular infundibular stalk mass or as thickening of the pituitary stalk. 21,28 A sellar mass with extension to the cavernous sinus has been reported much less commonly.…”

Section: 14mentioning

confidence: 99%

“…1,3,5,8,11,14,[16][17][18][19][20]23,[27][28][29][30][31][32] Erdheim-Chester disease is a multisystemic disease and can involve almost any organ system. Patients with ECD frequently have CNS involvement as an extraskeletal manifestation.…”

Section: Radiological Findingsmentioning

confidence: 99%

“…It typically affects middle-aged patients and has a significant male predominance. 3,5,8,14,17,18,23,27,28,32 Only 8 pediatric cases have ever been reported. 17,20,29 This disease is known to involve multiple organ systems, including the skeletal, cutaneous, cardiovascular, respiratory, urinary, and central nervous systems.…”

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confidence: 99%

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Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report

Alimohamadi

Hartmann

Paternó

et al. 2015

PED

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Erdheim-Chester disease (ECD) is non-Langerhans histiocytosis that can affect multiple organ systems. It usually affects middle-aged patients, and only a few reports of ECD in children appear in the literature. Central nervous system involvement is a common feature that usually occurs as infiltration of the hypothalamus-pituitary axis, cerebellum, and/or brainstem. Meningeal involvement occurs less commonly. In this article, the authors discuss a rare pediatric case of ECD presenting as an infiltrative mass of the trigeminal nerve and resembling the clinical and imaging features of a trigeminal schwannoma.

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Section: 14mentioning

confidence: 99%

Section: Radiological Findingsmentioning

confidence: 99%

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Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report

Alimohamadi

Hartmann

Paternó

et al. 2015

PED

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“…15 Radiographically, the pituitary gland, stalk, and hypothalamus may be normal; alternatively, enlargement and abnormal enhancement of these structures can be appreciated on MRI with or without accompanying endocrinopathy ( Figure 2F). 50 Retroperitoneal manifestations. Infiltration of perinephric tissues leading to the "hairy kidney" is common, as is hydronephrosis and ureteral narrowing (Figure 2A).…”

Section: Consensus Guidelines For Erdheim-chester Disease 485mentioning

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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“…The disease is characterized by its multi-organ involvement of heart, lungs, musculoskeletal, gastrointestinal and central nervous system (1). Neurological involvement is observed in less than % 50 of the patients who are diagnosed as ECD (2). Cerebellar and pyramidal syndromes were the most frequent clinical manifestations, but seizures, headaches, neuropsychiatric manifestations or cognitive impairment, sensory disturbances, cranial nerve paralysis or asymptomatic lesions were also reported.…”

Section: Introductionmentioning

confidence: 99%

Kalp ve beyin tutulumlu Erdheim-Chester hastalığı

Özerdem¹,

Müezzínoğlu²,

Akansel³

et al. 2015

Ege Tıp Dergisi

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Erdheim-Chester disease (ECD) is a rare non-Langerhans form of systemic histiocytosis of unknown etiology that progresses with multiple organ involvement. It is characterized by a xanthomatous infiltration showing positive staining with CD68 and negative staining with CD1a in tissues. We report a 62 year-old case complaining of malodor, in the brain magnetic resonance imaging of whom a mass was found at the clivus and leptomeningeal involvement was determined. The accompanying intracardiac mass was excised and the case was diagnosed histopathologically as ECD. We present the unusual clinical symptoms along with histopathologic and radiodiagnostic findings and discuss the differential diagnosis of this rare disease.Keywords: Erdheim-Chester disease, magnetic resonance imaging, cardiac involvement, neurological signs. Öz Erdheim-Chester hastalığı (ECD) etyolojisi bilinmeyen, multipl organ tutulumu ile seyreden

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Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Cited by 63 publications

References 19 publications

Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report

Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report

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

Kalp ve beyin tutulumlu Erdheim-Chester hastalığı

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