右侧肢体偏瘫伴失语,左腰部疼痛——迷惑性极强的血管型Ehlers-Danlos综合征  

Aphasia in Right Hemiparesis and Pain in Left Waist:A Deceiving Case in Vascular Ehlers⁃Danlos Syndrome

作　　者：付怡凝 周敬敏[2] 李峰[3] 黄尚志[11] 王怡宁[4] 洪霞[5] 吕珂[6] 刘雅萍 冷泠 郑文洁[8] 邱正庆[9] 朱以诚[10] 郑月宏[1] 陈跃鑫[1] FU Yining;ZHOU Jingmin;LI Feng;HUANG Shangzhi;WANG Yining;HONG Xia;LYU Ke;LIU Yaping;LENG Ling;ZHENG Wenjie;QIU Zhengqing;ZHU Yicheng;ZHENG Yuehong;CHEN Yuexin(Department of Vascular Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Urology Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Dermatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Psychological Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Ultrasonography,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Institute of Clinical Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Rheumatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences,Beijing 100005,China)

机构地区：[1]中国医学科学院北京协和医院血管外科,北京100730 [2]中国医学科学院北京协和医院泌尿外科,北京100730 [3]中国医学科学院北京协和医院皮肤科,北京100730 [4]中国医学科学院北京协和医院放射科,北京100730 [5]中国医学科学院北京协和医院心理医学科,北京100730 [6]中国医学科学院北京协和医院超声医学科,北京100730 [7]中国医学科学院北京协和医院临床医学研究所,北京100730 [8]中国医学科学院北京协和医院风湿免疫科,北京100730 [9]中国医学科学院北京协和医院儿科,北京100730 [10]中国医学科学院北京协和医院神经科,北京100730 [11]中国医学科学院基础医学研究所,北京100005

出　　处：《罕见病研究》2024年第2期224-231,共8页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-A-191)。

摘　　要：作为一种罕见的遗传性结缔组织疾病,Ehlers-Danlos综合征(EDS)在人群中发病率为(0.1~1)/万。而作为EDS中预后最差的一类分型,血管型EDS(vEDS)的发病率在全部EDS分型中极低。本文报道一例vEDS患者,表现为一过性右侧肢体偏瘫伴失语,左腰部疼痛。通过基因检测最终诊断为vEDS,通过多学科会诊共同决策,为该患者制订后续的治疗方案。EDS分型复杂,表现多样,极易误诊,在此报告诊疗经验。The EhlersDanlos syndrome(EDS)is a rare inherent connective tissue disorder.The prevalence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multidisciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the better understanding of this disease.

关 键 词：罕见病 系统性血管炎 血管型Ehlers-Danlos综合征 多学科讨论 

分 类 号：R593[医药卫生—内科学]