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POEMS综合征年轻患者出现不对称性视盘水肿:一种罕见疾病的罕见表现。

Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease.

作者信息

Mahallati Hana, Roberts James Kirkland, Assal Amer, Bhutani Divaya, Park David C, Moazami Golnaz

机构信息

Barnard College of Columbia University, 3009 Broadway, New York, NY, USA.

Neurological Institute of New York, Columbia University Irving Medical Center, 710 West 168th Street, New York, NY, USA.

出版信息

Am J Ophthalmol Case Rep. 2021 Mar 16;22:101064. doi: 10.1016/j.ajoc.2021.101064. eCollection 2021 Jun.

DOI:10.1016/j.ajoc.2021.101064
PMID:33786404
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7994727/
Abstract

PURPOSE

To describe a case of asymmetric optic disc edema presenting as the initial ocular feature of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes) syndrome.

OBSERVATIONS

A 29-year-old female patient presented with 3 weeks history of blurred vision, proptosis, and peripheral neuropathy as well as hypothyroidism. Fundoscopy revealed optic disc edema associated with visual loss in the left eye. Following a computed tomography (CT) scan and a positron emission tomography/CT (PET/CT) scan which respectively revealed hepatomegaly and multiple osteosclerotic lesions, as well as laboratory findings of monoclonal gammopathy and elevated vascular endothelial growth factor (VEGF) levels, she was diagnosed with POEMS syndrome. After treatment with an autologous stem cell transplant, the optic disc edema and blurred vision resolved.

CONCLUSIONS AND IMPORTANCE

The most reported ocular manifestation of POEMS syndrome, a rare and complex multisystem disorder, is bilateral optic disc edema that typically occurs in older males. Therefore, this report presents an uncommon case of asymmetric optic disc edema in a younger, female patient.

摘要

目的

描述一例以不对称性视盘水肿为首发眼部特征的POEMS(多发性神经病、脏器肿大、内分泌病、单克隆丙种球蛋白病、皮肤改变)综合征病例。

观察结果

一名29岁女性患者,有3周视力模糊、眼球突出、周围神经病变以及甲状腺功能减退的病史。眼底检查发现视盘水肿,伴有左眼视力丧失。计算机断层扫描(CT)和正电子发射断层扫描/CT(PET/CT)分别显示肝脏肿大和多处骨硬化性病变,实验室检查发现单克隆丙种球蛋白病和血管内皮生长因子(VEGF)水平升高,她被诊断为POEMS综合征。经过自体干细胞移植治疗后,视盘水肿和视力模糊症状消失。

结论与意义

POEMS综合征是一种罕见且复杂的多系统疾病,最常报道的眼部表现是双侧视盘水肿,通常发生在老年男性患者中。因此,本报告呈现了一例一例一例一个年轻女性患者出现不对称性视盘水肿的罕见病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/09807f4dd2e1/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/b35c5fd24152/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/b3d3b24f2493/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/5de2208777f8/gr3a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/4de8ba6906ef/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/459c6333bd52/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/09807f4dd2e1/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/b35c5fd24152/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/b3d3b24f2493/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/5de2208777f8/gr3a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/4de8ba6906ef/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/459c6333bd52/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a006/7994727/09807f4dd2e1/gr6.jpg

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