摘要/Abstract

摘要： 患者女性，16岁，因“反复下腹痛1年，复发伴加重10 d”就诊。体格检查发现：患者口唇有散在点状黑斑，直径1~4 mm，界限清，不融合，压之不褪色；左上腹压痛。进一步完善实验室检查和影像学检查，以“1. 肠套叠；2. 肠道多发息肉；3. 黑斑息肉综合征可能性大”收治入院。入院后行剖腹探查＋十二指肠、空肠息肉切除术，术后明确诊断为黑斑息肉综合征。黑斑息肉综合征是一种临床罕见病，具有皮肤黏膜色素沉着、胃肠道多发性息肉及家族遗传倾向三大典型特征。介绍该病例的临床资料可提高对黑斑息肉综合征的再认识，为后续同类患者的诊断和治疗提供参考，减少紧急手术和短肠综合征的发生。
关键词: 黑斑息肉综合征, 肠套叠, 家族性腺瘤性肠息肉病
Abstract:
A female patient, 16-year-old, presented ??recurrent lower abdominal pain for one year, recurrence and aggravation for 10 days''. Physical examination revealed that the patient's lips had dot-like dark spots, 1?4 mm in diameter, with clear boundaries and without fusion and fading under pressure, and there was tenderness in the upper left abdomen. The laboratory and imaging examinations were further completed and the patient was admitted to hospital with ??1. intussusception; 2. multiple polyps in the intestine; 3. likely Peutz-Jeghers syndrome (PJS)''. After admission, laparotomy was performed for duodenal and jejunal polyp resection, and the postoperative diagnosis was PJS. PJS is a clinically rare disease with three typical characteristics: skin and mucous membrane pigmentation, multiple polyps in the gastrointestinal tract, and family genetic tendency. The clinical data of this case are introduced to improve the understanding of PJS, provide reference for the following diagnosis and treatment of similar patients, and reduce the occurrence of emergency surgery and short bowel syndrome.
Key words: Peutz-Jeghers syndrome (PJS), intussusception, familial adenomatous polyposis


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