Pham Hong Duc, Nguyen Thai Hoa T, Tran Thi Quynh, Bui Van Giang
Radiology, Hanoi Medical University, Ha Noi, VNM.
Radiology, Saint Paul Hospital, Ha Noi, VNM.
Cureus. 2021 Jul 15;13(7):e16401. doi: 10.7759/cureus.16401. eCollection 2021 Jul.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inheritance characterized by intestinal hamartomatous polyps and hyperpigmented mucocutaneous macules. Bleeding, bowel obstruction, and intussusception are the most common complications in PJS patients. Individuals are infrequently present for the first time with bowel obstruction secondary to intussusception. Intestinal intussusception presentation is often observed clearly on multidetector computed tomography (MDCT) with characteristic findings, such as "target" and "pseudo-kidney" signs, and sometimes shows the cause of lead-point polyp. A complemental examination is needed to attain more diagnostic symptoms of this disorder, including pigmented spots on the oral cavity and lips, family history with multiple gastrointestinal polyps. Here, we report a case of a 17-year-old male who showed traits of Peutz-Jeghers syndrome. However, the diagnosis was not made until he later developed bowel obstruction caused by an ileo-ileal intussusception manifestation on MDCT and eventually proved in typical hamartoma on postoperative histopathology.
佩-吉二氏综合征（PJS）是一种常染色体显性遗传病，其特征为肠道错构瘤性息肉和皮肤黏膜色素沉着斑。出血、肠梗阻和肠套叠是PJS患者最常见的并发症。患者很少首次因肠套叠继发肠梗阻而就诊。多层螺旋计算机断层扫描（MDCT）常能清晰观察到肠套叠的表现，并具有“靶征”和“假肾征”等特征性表现，有时还能显示套叠起始点息肉的病因。需要进行补充检查以获取更多该疾病的诊断症状，包括口腔和唇部的色素沉着斑、有多个胃肠道息肉的家族史。在此，我们报告一例17岁男性表现出佩-吉二氏综合征特征的病例。然而，直到他后来因MDCT显示回肠-回肠套叠表现而出现肠梗阻，最终术后组织病理学证实为典型错构瘤，才得以确诊。
