Chae Hyun-Dong, Jeon Chang-Ho
Department of Surgery, Catholic University of Daegu School of Medicine, Daegu, Korea.
Department of Laboratory Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
Ann Surg Treat Res. 2014 Jun;86(6):325-30. doi: 10.4174/astr.2014.86.6.325. Epub 2014 May 23.
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.
黑斑息肉综合征（PJS），也称为口周雀斑样痣，是一种罕见的常染色体显性遗传病，活产儿发病率为1/200,000。丝氨酸 - 苏氨酸激酶11（STK11）基因的突变被认为是PJS的主要病因。年轻时最常见的并发症是由于多个错构瘤性息肉导致的反复肠套叠，主要发生在小肠。虽然极为罕见，但仍应全面检查小肠以确定是否不存在其他肠套叠。在此，我们报告一例12岁年轻女孩发生STK11基因种系突变的PJS病例，该病例表现为罕见的两例小肠肠套叠，并对文献进行综述。
