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一名患有黑斑息肉综合征的年轻成人以急性小肠梗阻为表现的病例报告:一种罕见疾病的常见并发症

A Case Report of a Young Adult With Peutz-Jeghers Syndrome Presenting With Acute Small Bowel Obstruction: A Common Complication of an Uncommon Disease.

作者信息

Kuruvila Ashish, Philip Prince, Thomas Abin, Benjamin Geena

机构信息

Department of Radiology, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, IND.

出版信息

Cureus. 2024 Aug 1;16(8):e65931. doi: 10.7759/cureus.65931. eCollection 2024 Aug.

DOI:10.7759/cureus.65931
PMID:39221343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11365710/
Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. Radiological imaging, contrast studies, and scopy-directed biopsies confirm the diagnosis and help in surveillance. Hamartomatous mucosal polyps, which are characterized by a central core of branching smooth muscle connected to a mucosa unique to the site of origin, are pathognomonic for PJS. We present the case of a young male with a history of pain in the abdomen and vomiting. The patient had mucocutaneous pigmentations on the buccal mucosa. CT scan revealed jejuno-jejunal intussusception with multiple small and large bowel polyps causing acute intestinal obstruction. Intraoperatively, jejunal polyps were found to be the cause of jejuno-jejunal intussusception. Histopathology revealed hamartomatous polyps of PJS. Our interest in this case is due to the uncommon case of intussusception in an adult where radiological imaging played an important role in diagnosis.

摘要

佩-吉二氏综合征(PJS)是一种常染色体显性疾病,其特征为胃肠道错构瘤性息肉病、皮肤和黏膜黑色素沉着以及癌症风险增加。放射影像学、造影检查和内镜引导下活检可确诊并有助于监测。错构瘤性黏膜息肉以连接至起源部位独特黏膜的分支平滑肌中央核心为特征,是PJS的特征性表现。我们报告一例有腹部疼痛和呕吐病史的年轻男性病例。该患者颊黏膜有黏膜皮肤色素沉着。CT扫描显示空肠-空肠套叠,伴有多个大小肠息肉,导致急性肠梗阻。术中发现空肠息肉是空肠-空肠套叠的病因。组织病理学显示为PJS的错构瘤性息肉。我们对该病例感兴趣是因为成人肠套叠这种罕见情况,其中放射影像学在诊断中发挥了重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/405b9dbb9d47/cureus-0016-00000065931-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/e7f18188d32c/cureus-0016-00000065931-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/1944f6cac57b/cureus-0016-00000065931-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/9ca0cdc62a66/cureus-0016-00000065931-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/a587a369205f/cureus-0016-00000065931-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/405b9dbb9d47/cureus-0016-00000065931-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/e7f18188d32c/cureus-0016-00000065931-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/1944f6cac57b/cureus-0016-00000065931-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/9ca0cdc62a66/cureus-0016-00000065931-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/a587a369205f/cureus-0016-00000065931-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e6/11365710/405b9dbb9d47/cureus-0016-00000065931-i05.jpg

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