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中华疝和腹壁外科杂志(电子版) ›› 2025, Vol. 19 ›› Issue (04) : 478 -481. doi: 10.3877/cma.j.issn.1674-392X.2025.04.022

所属专题: 经典病例

临床病例讨论

以腹盆腔巨大肿物为首发症状的结节性硬化症一例
朱涛1, 李晶磊1, 陈伶俐2, 丁玉芹3, 刘宇军4, 姜铨1, 张勇5,1,()   
  1. 1200032 上海,复旦大学附属中山医院腹膜后及软组织肿瘤外科
    2200032 上海,复旦大学附属中山医院病理科
    3200032 上海,复旦大学附属中山医院放射科
    4200032 上海,复旦大学附属中山医院泌尿外科
    5361015 厦门,复旦大学附属中山医院厦门医院普外科
  • 收稿日期:2025-06-28 出版日期:2025-08-18
  • 通信作者: 张勇
  • 基金资助:
    厦门市自然科学基金面上项目(3502Z20227279); 福建省自然科学基金面上项目(2023J01698)

A case of tuberous sclerosis presenting with a giant abdominopelvic mass as the initial symptom

Tao Zhu, Jinglei Li, Lingli Chen   

  • Received:2025-06-28 Published:2025-08-18
引用本文:

朱涛, 李晶磊, 陈伶俐, 丁玉芹, 刘宇军, 姜铨, 张勇. 以腹盆腔巨大肿物为首发症状的结节性硬化症一例[J/OL]. 中华疝和腹壁外科杂志(电子版), 2025, 19(04): 478-481.

Tao Zhu, Jinglei Li, Lingli Chen. A case of tuberous sclerosis presenting with a giant abdominopelvic mass as the initial symptom[J/OL]. Chinese Journal of Hernia and Abdominal Wall Surgery(Electronic Edition), 2025, 19(04): 478-481.

患者女,27岁,因"体检发现腹腔肿瘤2周"于2024年7月就诊并收入院。2周前,患者于当地医院婚前检查时,腹部超声提示:腹盆腔巨大实性团块(上至剑突下,下至盆腔),伴肝脏及双肾多发肿物。进一步行正电子发射体层成像及CT检查示:肝左叶占位(恶性待排)、左侧腹部巨大肿物(脂肪肉瘤待排)、双侧肾脏多发血管平滑肌脂肪瘤(angiomyolipoma,AML)。患者无自觉症状,否认腹痛、头痛、癫痫发作、视力异常及胸闷胸痛等,大小便及体重无显著变化。既往有缺铁性贫血病史,无手术、药物过敏及传染病史。否认家族成员癫痫、皮肤结节或肾脏疾病史。

图1 患者查体所见体征注:1A鼻翼两侧对称分布结节样皮疹;1B左侧异常足趾。
图2 TSC患者予mTOR抑制剂治疗前和治疗后CT注:2A治疗前CT动脉期肝脏病灶;2B治疗前CT动脉期双肾周及腹膜后病灶;2C治疗后CT动脉期肝脏病灶;2D治疗后CT动脉期双肾周及腹膜后病灶。TSC为结节性硬化症,mTOR为哺乳动物雷帕霉素靶蛋白。
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