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浙江大学学报（医学版）
浙江大学学报（医学版）  2016, Vol. 45 Issue (3): 297-301    DOI: 10.3785/j.issn.1008-9292.2016.05.13
病例报告     
1型神经纤维瘤病并发小肠梗阻一例
毛玲娜1, 郭庆渠2, 王贵峰1, 宋震亚1
1. 浙江大学医学院附属第二医院全科医学科, 浙江 杭州 310009;
2. 浙江大学医学院附属第二医院外科, 浙江 杭州 310009
A case of neurofibromatosis complicated with small bowel obstruction
MAO Lingna1, GUO Qingqu2, WANG Guifeng1, SONG Zhenya1
1. Department of General Practice, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China;
2. Department of General Surgery, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China
全文: PDF(1073 KB)  
摘要: 

1型神经纤维瘤病（NF-1）合并胃肠道间质瘤（GIST）临床罕见，同时GIST肿块巨大且引起肠梗阻的病例更鲜有报道。本文报道一例有家族史的NF-1病例，患者全身皮肤以及腹腔内遍布结节，突发上腹部胀痛伴恶心、呕吐5 d。入院检查腹部CT检查提示腹腔内有巨大肿块并压迫小肠导致肠系膜扭转、小肠梗阻。最终手术证实腹腔内巨大肿块为GIST。手术后至今半年，患者恢复良好。
关键词 ： 神经纤维瘤病1型/诊断,  神经纤维瘤病1型/外科学,  肠梗阻/病因学,  小肠,  胃肠道间质肿瘤/外科学,  病例报告    
Abstract：

Neurofibromatosis type 1(NF-1) with gastrointestinal stromal tumor (GIST) is a rare case in clinical practice. But it is even rarer that the GIST tumor in this case is so large that it cause small intestinal obstruction. Here we report such a male case of NF-1,with positive family history of NF-1 and nodules all over the patient's skin and abdominal cavity. The patient came to hospital with a sudden upper abdominal pain and nausea and vomiting over 5 d. Abdominal computerized tomography (CT) showed that there were numerous nodules of different size in his abdominal cavity. And the largest one is about 10 cm in diameter,which oppressed the small bowel and caused the small bowel mesenteric volvulus and obstruction of the bowel. Finally,the tumor was pathologically proved to be a GIST tumor but not NF nodule. The patient stays healthy until now after operation.
Key words： Neurofibromatosis 1/diagnosis    Neurofibromatosis 1/surgery    Intestinal obstruction/etiology    Intestine, small    Gastrointestinal stromal tumors/surgery    Case reports
收稿日期: 2016-02-17
CLC:  R739  
基金资助:

浙江省教育厅科研项目（Y201534681）；浙江省自然科学基金（LY12H09008）
通讯作者: 宋震亚(1969-),博士,主任医师,硕士生导师,主要从事消化病学及全科医学研究;E-mail:songzy@medmail.com.cn;http://orcid.org/0000-0002-5946-7006     E-mail: songzy@medmail.com.cn
作者简介: 毛玲娜(1982-),硕士研究生,主治医师,主要从事全科医学及眼科学研究;E-mail:maolingna1982@163.com;http://orcid.org/0000-0002-3252-8905
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引用本文:

毛玲娜 等. 1型神经纤维瘤病并发小肠梗阻一例[J]. 浙江大学学报（医学版）, 2016, 45(3): 297-301.
MAO Lingna, GUO Qingqu, WANG Guifeng, SONG Zhenya. A case of neurofibromatosis complicated with small bowel obstruction. Journal of ZheJiang University(Medical Science), 2016, 45(3): 297-301.

链接本文:

http://www.zjujournals.com/xueshu/med/CN/10.3785/j.issn.1008-9292.2016.05.13      或      http://www.zjujournals.com/xueshu/med/CN/Y2016/V45/I3/297

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