PDF(Pubmed)
Abstract：
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.
摘要：
Peutz-Jeghers综合征（PJS）是一种常染色体显性遗传，其特征是肠错构瘤息肉和色素沉着的粘膜皮肤黄斑。出血,肠梗阻,肠套叠是PJS患者最常见的并发症。首次出现肠套叠继发肠梗阻的个体很少出现。肠套叠的表现通常在多探测器计算机断层扫描（MDCT）上可以清楚地观察到，具有特征性的表现。如“目标”和“伪肾”标志，有时会显示导点息肉的原因。需要进行补充检查以获得这种疾病的更多诊断症状，包括口腔和嘴唇上的色素斑点，胃肠道多发息肉家族史。这里,我们报道一例17岁男性,表现出Peutz-Jeghers综合征特征.然而,直到他后来在MDCT上出现由回肠肠套叠表现引起的肠梗阻,并最终在术后组织病理学上证实为典型错构瘤,才做出诊断.
