Erdheim-Chester病一例

范晓媛; 刘婷; 有慧; 孙健; 曹欣欣; 冯逢; 王凤丹

doi:10.12376/j.issn.2097-0501.2022.01.011

Erdheim-Chester病一例

doi: 10.12376/j.issn.2097-0501.2022.01.011

范晓媛¹,
刘婷²,
有慧¹,
孙健³,
曹欣欣²,
冯逢^{1, 4},
王凤丹^1, ,

1.
中国医学科学院北京协和医院放射科，北京 100730
2.
中国医学科学院北京协和医院血液内科，北京 100730
3.
中国医学科学院北京协和医院病理科，北京 100730
4.
中国医学科学院北京协和医院疑难重症及罕见病国家重点实验室，北京 100730

详细信息

通信作者:
王凤丹，E-mail：wangfengdan@pumch.cn

中图分类号: R445
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出版历程
- 收稿日期: 2021-12-13
- 修回日期: 2022-01-05

Erdheim-Chester Disease: Case Report

1.
Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing 100730, China
2.
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing 100730, China
3.
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing 100730, China
4.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing 100730, China

More Information

Corresponding author: WANG Fengdan, E-mail：wangfengdan@pumch.cn

摘要

摘要: Erdheim-Chester病(Erdheim-Chester disease，ECD)是一种罕见的非朗格汉斯细胞组织细胞增生症，其主要特征是富含脂质的泡沫细胞在骨骼及多器官系统浸润，临床表现复杂多样，容易误诊。本文报道一例因下丘脑功能紊乱就诊，中枢神经系统、胰腺及下肢骨受累，经临床、影像、病理综合诊断为ECD的患者，干扰素α治疗后临床症状及影像表现均明显好转。
- Erdheim-Chester病 /
- 组织细胞增多症 /
- 磁共振成像
Abstract: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the infiltration of bone and multiple organs by foamy lipid-laden histiocytes. ECD is easy to be misdiagnosed due to its complicated clinical manifestations. We report a patient who visited the hospital due to hypothalamic dysfunction, with central nervous system, pancreas, and lower limb bones involvements. Together with the evidence of clinical manifestations, imaging and pathology, this patient was diagnosed with ECD. After treatment with interferon-α, both the clinical symptoms and imaging manifestations of this patient were significantly improved.
- Erdheim-Chester disease /
- histiocytosis /
- magnetic resonance imaging
注释:

作者贡献：范晓媛：调查、形式分析、可视化、撰写初稿；刘婷：数据管理、形式分析；有慧：形式分析、方法；孙健：形式分析、方法；曹欣欣：资源、项目管理、监督；冯逢：概念化、资源、初稿审阅及修订；王凤丹：概念化、资助、监督、初稿审阅及修订。

利益冲突：所有作者均声明不存在利益冲突

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图 1 头MRI结果

左基底节区(A~E)、桥脑(F~G)、鞍区及下丘脑(H)多发占位，病灶呈稍长T1(A)、长T2信号(B, F)，脑内病灶伴瘤周水肿，DWI信号不高(D)，ADC未见减低(E)，增强后病变呈明显均匀强化(C, G~H); 鞍区肿物切除术后，右前额叶为术后改变，局部软化灶(A~E, I);干扰素治疗9个月后，T1增强序列示基底节区病灶消失(I)，鞍区及下丘脑病灶明显减小(J)

下载: 全尺寸图片幻灯片

图 2 双下肢MRI和腹部增强CT结果

MRI结果显示双侧股骨(A)、胫骨(B~D)骨干及干骺端对称性骨梗死；腹部增强CT示胰体尾部多发低密度影(E，箭头)，增强扫描示动脉期(F)、静脉期(G)至延迟期(H)逐渐强化，各期均低于周围正常胰腺实质，局部脾静脉狭窄(*)；治疗9个月后复查，病灶明显减小(I~L，弯箭头)

下载: 全尺寸图片幻灯片

参考文献(11)

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