Erdheim-Chester disease with chorioretinal and orbital involvement: a case report
View/ Open
Access
info:eu-repo/semantics/openAccessDate
2024Author
Şerefoğlu Çabuk, KübraTellioğlu, Adem
Öztürk Karabulut, Gamze
Aşık Nacaroğlu, Şenay
Fazıl, Korhan
Elverdi, Tuğrul
Taşkapılı, Muhittin
Karslıoğlu, Şafak
Metadata
Show full item recordCitation
Şerefoğlu Çabuk, K., Tellioğlu, A., Öztürk Karabulut, G., Aşık Nacaroğlu, Ş., Fazıl, K., Elverdi, T. ... Karslıoğlu, Ş. (2024). Erdheim-Chester disease with chorioretinal and orbital involvement: a case report. Arquivos Brasileiros de Oftalmologia, 87(5). https://dx.doi.org/10.5935/0004-2749.2022-0151Abstract
A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim- Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFN alpha-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFN alpha 2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements. Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.
WoS Q Kategorisi
Q4xmlui.dri2xhtml.METS-1.0.item-scopusquality
Q3Source
Arquivos Brasileiros de OftalmologiaVolume
87Issue
5Collections
- Makale Koleksiyonu [3801]
- PubMed İndeksli Yayınlar Koleksiyonu [4264]
- Scopus İndeksli Yayınlar Koleksiyonu [6620]
- WoS İndeksli Yayınlar Koleksiyonu [6696]
Related items
Showing items related by title, author, creator and subject.
-
Immunoglobulin G4-related lung disease presenting with a mediastinal mass
Oğuztürk, Gülçehre; Günlüoğlu, Mehmet Zeki; Seyhan, Ekrem Cengiz (Turkiye Klinikleri Publisher, 2022)Immunoglobulin G4-related disease (IgG4-RD) is a recently identified systemic disease characterized by increased IgG4 level in serum and plasma cell infiltration resulting in “storiform fibrosis”. Although lung involvement ... -
Abnormalities of resting-state functional cortical connectivity in patients with dementia due to alzheimer's and lewy body diseases: An EEG study
Babiloni, Claudio; del Percio, Claudio; Lizio, Roberta; Noce, Giuseppe; Lopez, Susanna; Soricelli, Andrea; Ferri, Raffaele; Nobili, Flavio; Arnaldi, Dario; Fama, Francesco; Aarsland, Dag; Orzi, Francesco; Buttinelli, Carla; Giubilei, Franco; Onofrj, Marco; Stocchi, Fabrizio; Stirpe, Paola; Fuhr, Peter; Gschwandtner, Ute; Ransmayr, Gerhard; Garn, Heinrich; Fraioli, Lucia; Pievani, Michela; Frisoni, Giovanni B.; D'Antonio, Fabrizia; de Lena, Carlo; Güntekin, Bahar; Hanoğlu, Lütfü; Bazar, Erol; Yener, Görsev; Emek Savaş, Derya Durusu; Triggiani, Antonio Ivano; Franciotti, Raffaella; Taylor, John Paul; Vacca, Laura; de Pandis, Maria Francesca; Bonanni, Laura (Elsevier Science Inc, 2018)Previous evidence showed abnormal posterior sources of resting-state delta (<4 Hz) and alpha (8-12 Hz) rhythms in patients with Alzheimer's disease with dementia (ADD), Parkinson's disease with dementia (PDD), and Lewy ... -
Are there consistent abnormalities in event-related EEG oscillations in patients with Alzheimer's disease compared to other diseases belonging to dementia?
Güntekin, Bahar; Aktürk, Tuba; Arakaki, Xianghong; Bonanni, Laura; Del Percio, Claudio; Edelmayer, Rebecca; Farina, Francesca; Ferri, Raffaele; Hanoğlu, Lütfü; Kumar, Sanjeev; Lizio, Roberta; Lopez, Susanna; Murphy, Brian; Noce, Giuseppe; Randall, Fiona; Sack, Alexander T.; Stocchi, Fabrizio; Yener, Görsev; Yıldırım, Ebru; Babiloni, Claudio (John Wiley and Sons Inc, 2022)Cerebrospinal and structural-molecular neuroimaging in-vivo biomarkers are recommended for diagnostic purposes in Alzheimer’s disease (AD) and other dementias; however, they do not explain the effects of AD neuropathology ...