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Erdheim-Chester病一例

范晓媛 刘婷 有慧 孙健 曹欣欣 冯逢 王凤丹

范晓媛, 刘婷, 有慧, 孙健, 曹欣欣, 冯逢, 王凤丹. Erdheim-Chester病一例[J]. 罕见病研究, 2022, 1(1): 68-71. doi: 10.12376/j.issn.2097-0501.2022.01.011
引用本文: 范晓媛, 刘婷, 有慧, 孙健, 曹欣欣, 冯逢, 王凤丹. Erdheim-Chester病一例[J]. 罕见病研究, 2022, 1(1): 68-71. doi: 10.12376/j.issn.2097-0501.2022.01.011
FAN Xiaoyuan, LIU Ting, YOU Hui, SUN Jian, CAO Xinxin, FENG Feng, WANG Fengdan. Erdheim-Chester Disease: Case Report[J]. Journal of Rare Diseases, 2022, 1(1): 68-71. doi: 10.12376/j.issn.2097-0501.2022.01.011
Citation: FAN Xiaoyuan, LIU Ting, YOU Hui, SUN Jian, CAO Xinxin, FENG Feng, WANG Fengdan. Erdheim-Chester Disease: Case Report[J]. Journal of Rare Diseases, 2022, 1(1): 68-71. 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
详细信息
    通信作者:

    王凤丹,E-mail:wangfengdan@pumch.cn

  • 中图分类号: R445

Erdheim-Chester Disease: Case Report

More Information
  • 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。

     

  • 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)

    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)

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    [2] Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease [J]. Blood, 2020, 135: 1311-1318. doi: 10.1182/blood.2019002766
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    [8] Drier A, Haroche J, Savatovsky J, et al. Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings [J]. Radiology, 2010, 255: 586-594. doi: 10.1148/radiol.10090320
    [9] Cohen Aubart F, Idbaih A, Galanaud D, et al. Central nervous system involvement in Erdheim-Chester disease: An observational cohort study [J]. Neurology, 2020, 95: e2746-e2754. doi: 10.1212/WNL.0000000000010748
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出版历程
  • 收稿日期:  2021-12-13
  • 修回日期:  2022-01-05

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