Erdheim-Chester disease with chorioretinal and orbital involvement: a case report
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info:eu-repo/semantics/openAccessTarih
2024Yazar
Şerefoğlu Çabuk, KübraTellioğlu, Adem
Öztürk Karabulut, Gamze
Aşık Nacaroğlu, Şenay
Fazıl, Korhan
Elverdi, Tuğrul
Taşkapılı, Muhittin
Karslıoğlu, Şafak
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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/10.5935/0004-2749.2022-0151Özet
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.
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Arquivos Brasileiros de OftalmologiaCilt
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