Erdheim-Chester disease presenting at the central nervous system

Fasulo, Sydney M.; Alkomos, Mina Fransawy; Pjetergjoka, Rovena; Mekheal, Erinie; Awasthi, Sharon; Chittamuri, Sahithi; Kumar, Vinod; Manoj, K.; Akmal, Amer; Maroules, Michael

doi:10.4322/acr.2021.321

Cited by 5 publications

(6 citation statements)

References 7 publications

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“…In another case, a man with a history of two months of headaches was present in the emergency department [18]. The man had decreased range of motion in the cervical spine and infiltrative lesions in the cerebellum, and parietal lobe, causing a mass effect, making the patient herniate.…”

Section: Neurological Manifestations' Responsementioning

confidence: 99%

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Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Aziz¹,

Proano²,

Cruz³

et al. 2022

Cureus

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Erdheim Chester disease (ECD) is a type of histiocytosis characterized by a variable clinical presentation. The treatment of ECD is complex and mainly unknown. We aim to conduct a literature review of the treatment of ECD and consolidate the knowledge about the most recent and updated treatment for ECD. To conduct the systematic review, we used the preferred reporting items for systematic reviews and metaanalysis (PRISMA) protocol.To analyze the bias, we used the Cochrane collaboration risk-of-bias tool to assess the bias. We included observational studies and clinical trials on humans, which were written in English. Papers not fulfilling the objective of our study were excluded.Overall, the drug showed efficacy in the clinical trials, showing prolonged improvement and high rates of response rate. Overall, the drug was not well tolerated, and patients had a long list of side effects. Nevertheless, the drug seems to be a good option for second-line treatment for patients with ECD and BRAFV600 mutation.

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Section: Neurological Manifestations' Responsementioning

confidence: 99%

“…Neurosurgery operated on the patient, removing the mass and resolving the acute situation. The biopsy was positive for D68, CD163, Factor XIIIa, and BRAF, so the patient was put on vemurafenib, and continued to show improvement after a three-month follow-up [18].…”

Section: Neurological Manifestations' Responsementioning

confidence: 99%

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Aziz¹,

Proano²,

Cruz³

et al. 2022

Cureus

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“…O quarto grupo de manifestações da doença de Erdheim-Chester são as manifestações ósseas, presentes no relato de 13 artigos. O osso mais relatado foi a tíbia, presente em 8 artigos (1,2,4,7,13,22,39,45). Outros ossos também relatados são: esterno, fêmur, costelas, vértebras e tálus.…”

Section: Discussionunclassified

“…Outros ossos também relatados são: esterno, fêmur, costelas, vértebras e tálus. O principal aspecto das lesões ósseas é a lesão lítica (1)(2)(3)(4)(5)7,13,22,39,(45)(46)(47).…”

Section: Discussionunclassified

Doença de Erdheim Chester com envolvimento isolado do SNC

Rodrigues¹,

Ribeiro²,

Faria³

et al. 2022

Braz. J. Hea. Rev.

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Introdução: A Doença de Erdheim-Chester é uma forma de histiocitose de células não-Langerhans que ocorre mais frequentemente após os 40 anos de idade, com leve predomínio no sexo masculino. Apresentação do caso: Paciente, sexo masculino, branco, X anos de idade, admitido no Hospital das Clínicas de Goiânia, com sintomas de cefaléia crônica, de caráter progressivo de inicio há 3 meses, associados a sintomas neurológicos de ataxia e diplopia. Referiu febre baixa diária, não aferida, com perda de 10kg no período descrito, não associado a dieta ou mudança de hábitos de vida. Nega comorbidades ou uso de medicamentos. Ao exame físico, apresenta quadro de Nistagmo e Romberg positivo e alteração da úvula para direita. Paciente não apresentava outros sinais dignos de nota. Discussão: Foram selecionados para a revisão, os artigos de relato de caso ou séries de caso relacionados a manifestações clínicas da doença de Erdheim-Chester. Os principais tipos manifestações clínicas relatadas na literatura são: neurológicas, cardiovasculares, oftálmicas, endócrinas, urinárias, hematológicas, ósseas, cutâneas, respiratórias, gastrointestinais, envolvimento de múltiplos sistemas e outras. Entre esses tipos de manifestações, as mais frequentes foram neurológicas, cardiovasculares e oftálmicas, correspondendo a 48% das manifestações relatadas. Conclusão: É fundamental ter uma equipe multidisciplinar acompanhando o paciente, para que sejam evitadas complicações e se possa proporcionar qualidade de vida ao paciente.

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“…On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform. 6,28,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports. However, if the BRAF mutation was studied and found to be positive, the prognosis was favorable, with total or partial remission when specific BRAF kinase inhibitors (such as vemurafenib or dabrafenib) or tyrosine kinase inhibitors (such as cobimetinib) were used as targeted therapy.…”

Section: Literature Summary and Prognostic Featuresmentioning

confidence: 99%

Erdheim‐Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature

et al. 2023

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Erdheim‐Chester disease is a non‐Langerhans cell histiocytosis syndrome characterised by histiocytic infiltration of different organs and systems in the body. Erdheim‐Chester disease with isolated central nervous system (CNS) involvement causes diagnostic difficulties due to the absence of systemic findings and may result in misdiagnosis and inaccurate treatment choices. The case discussed in this report exemplifies how challenging it is to diagnose Erdheim‐Chester disease with isolated CNS involvement. This case, which presented with progressive pyramidocerebellar syndrome, was clinically and radiologically resistant to all immunosuppressive and immunomodulatory treatments administered. The presence of false negative results in repeated histopathological investigations and the absence of evidence for systemic disease hindered the diagnosis and treatment work‐up. In this study, we reviewed and discussed the prominent features of the presented case in light of the relevant literature.

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Erdheim-Chester disease presenting at the central nervous system

Cited by 5 publications

References 7 publications

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Doença de Erdheim Chester com envolvimento isolado do SNC

Erdheim‐Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature

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