Cambridge University Hospitals NHS Foundation Trust, UK.
Ann R Coll Surg Engl. 2022 Mar;104(3):e84-e86. doi: 10.1308/rcsann.2021.0142. Epub 2021 Dec 20.
Peutz-Jeghers syndrome (PJS) is a rare hereditary disease characterised by hyperpigmentation of the oral mucosa and gastrointestinal hamartomatous polyps. We report a case of a 27-year-old man who presented with a 5-day history of epigastric pain and rectal bleeding. Computed tomography suggested small bowel obstruction secondary to ileocolic intussusception and an incidental polyp in the mid jejunum. The patient underwent exploratory laparotomy during which right hemicolectomy and small bowel resection were performed. Histology from surgical specimens revealed Peutz-Jeghers polyps, one of which had low-grade dysplasia. This case emphasises that although rare, adults with PJS can present with intussusception. Also illustrated is the extremely rare possibility of concurrent polyps occurring in different parts of the bowel with neoplastic transformation. Intussusception is a challenge to diagnose because the presentation is often non-specific. Clinical history-taking and physical examination along with prompt axial imaging is important for the diagnosis. Careful examination of the bowel and polypectomy during laparotomy may prevent neoplastic transformation and short bowel syndrome.
皮杰特-杰格斯综合征（PJS）是一种罕见的遗传性疾病，其特征是口腔黏膜和胃肠道错构瘤性息肉出现色素沉着。我们报告了一例 27 岁男性患者，他因上腹痛和直肠出血就诊，病史 5 天。计算机断层扫描提示小肠梗阻继发回结肠肠套叠和中肠空肠的偶然息肉。患者接受了剖腹探查术，术中进行了右半结肠切除术和小肠切除术。手术标本的组织学显示皮杰特-杰格斯息肉，其中一个有低度异型增生。该病例强调，尽管罕见，但成年人也可能患有 PJS 肠套叠。同时还说明了在不同肠段同时发生伴有肿瘤转化的息肉的极罕见可能性。肠套叠的诊断具有挑战性，因为其表现通常是非特异性的。临床病史采集和体格检查以及及时的轴向成像对于诊断很重要。在剖腹术中仔细检查肠道和息肉切除术可能会预防肿瘤转化和短肠综合征。
