A Case of Suspected Erdheim-Chester Disease with Optic Neuropathy, Exophthalmos, and Resistance to Treatment

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  • Saura Ayaha
    Department of Ophthalmology, Osaka-kaisei Hospital Department of Ophthalmology, Osaka Medical and Pharmaceutical University
  • Hirokawa Takahisa
    Department of Ophthalmology, Osaka Medical and Pharmaceutical University
  • Hukiyama Yurie
    Department of Ophthalmology, Osaka Medical and Pharmaceutical University
  • Tonari Masahiro
    Department of Ophthalmology, Osaka Medical and Pharmaceutical University
  • Oku Hidehiro
    Department of Ophthalmology, Osaka Medical and Pharmaceutical University

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  • エルドハイム・チェスター病が疑われ，治療に抵抗， 進行性に増悪し両眼失明に至った1例

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<p>　Erdheim-Chester disease（ECD）is classified as histiocytosis and very rarely it may cause orbital lesions. We report the case of a 70-year-old woman with suspected ECD who resisted any treatment that led to blindness in both the eyes. One week prior to the first visit, she noticed a decrease in the visual acuity of the left eye. MRI revealed a mass lesion at the left orbital apex and her condition was diagnosed as left optic neuropathy. After several months, she developed bilateral lagophthalmos from orbititis of both sides. Lacrimal glands were also enlarged bilaterally, and a biopsy of left lacrimal gland was performed. The immunohistochemistry results were consistent with those of ECD, which is classified as histiocytosis. Symmetrical osteocortical sclerosing lesions and gene mutations in the mitogen-activated protein kinase（MAPK）pathway are often found in typical ECD; however, these findings were absent in this case. Although no lesions other than that of the orbit were observed at present, other systemic abnormalities including bone lesions may appear through further observation period, therefore, a careful follow-up is necessary in this case. </p>

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