PDF(Pubmed)
Abstract：
BACKGROUND: Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our knowledge, only 1 case of appendiceal carcinoid associated with PJS has been previously reported in the pediatric population.
METHODS: We report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted.
METHODS: A plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a \"coffee bean\" appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps.
METHODS: An emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed.
RESULTS: Clinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences.
CONCLUSIONS: Unusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.
METHODS: We report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted.
METHODS: A plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a \"coffee bean\" appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps.
METHODS: An emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed.
RESULTS: Clinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences.
CONCLUSIONS: Unusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.
摘要：
背景：Peutz-Jeghers综合征（PJS），一种罕见的常染色体显性疾病,以皮肤粘膜色素沉着为特征，胃肠道错构瘤息肉，和发展各种恶性肿瘤的高风险。据我们所知,以前在儿科人群中仅报道了1例与PJS相关的阑尾类癌.
方法：我们报告了一名7岁女孩，她因严重入院，间歇性腹痛和痉挛，恶心,和呕吐。嘴唇上有多个棕色黑色素斑，颊粘膜，舌头被注意到了。
方法：站立姿势的腹部X线平片显示扩张的肠loop具有多个气液水平。腹部的计算机断层扫描扫描显示空肠环的“咖啡豆”外观，并具有到十二指肠环的过渡点。腹部轴向对比增强计算机断层扫描扫描显示空肠环扩张，充满了肠系膜典型扭转的漩涡状液体。PJS的诊断基于临床发现以及错构瘤性息肉的组织病理学确认。
方法：进行了紧急剖腹手术，从十二指肠空肠弯曲40厘米处开始出现空肠肠套叠。空肠切开术显示肠套叠是坏死性错构瘤性息肉。切除受累空肠坏死段后，包括息肉,进行端到端空肠-空肠吻合术.进一步的探索发现，在十二指肠空肠弯曲处80厘米处存在空肠肿块，被确定为另一个错构瘤带蒂息肉。息肉被切除了,然后横向闭合肠切开术。还切除了大致正常的阑尾。
结果：临床发现以及组织病理学证实的错构瘤性息肉与PJS一致。阑尾类癌（高分化神经内分泌肿瘤，在阑尾的组织学检查过程中偶然发现了欧洲神经内分泌肿瘤学会pT2阶段）。对患者和父母进行了相应的咨询，专注于主动监测和症状控制。另外两个错构瘤息肉（胃和空肠）在术后第四周通过内窥镜检查并切除。一个普通的，1年的随访和监测显示无并发症或复发。
结论：在明确定义的综合征如PJS中偶尔会遇到不寻常的肿瘤。因此,所有PJS患者都必须进行积极的随访和监测.
方法：我们报告了一名7岁女孩，她因严重入院，间歇性腹痛和痉挛，恶心,和呕吐。嘴唇上有多个棕色黑色素斑，颊粘膜，舌头被注意到了。
方法：站立姿势的腹部X线平片显示扩张的肠loop具有多个气液水平。腹部的计算机断层扫描扫描显示空肠环的“咖啡豆”外观，并具有到十二指肠环的过渡点。腹部轴向对比增强计算机断层扫描扫描显示空肠环扩张，充满了肠系膜典型扭转的漩涡状液体。PJS的诊断基于临床发现以及错构瘤性息肉的组织病理学确认。
方法：进行了紧急剖腹手术，从十二指肠空肠弯曲40厘米处开始出现空肠肠套叠。空肠切开术显示肠套叠是坏死性错构瘤性息肉。切除受累空肠坏死段后，包括息肉,进行端到端空肠-空肠吻合术.进一步的探索发现，在十二指肠空肠弯曲处80厘米处存在空肠肿块，被确定为另一个错构瘤带蒂息肉。息肉被切除了,然后横向闭合肠切开术。还切除了大致正常的阑尾。
结果：临床发现以及组织病理学证实的错构瘤性息肉与PJS一致。阑尾类癌（高分化神经内分泌肿瘤，在阑尾的组织学检查过程中偶然发现了欧洲神经内分泌肿瘤学会pT2阶段）。对患者和父母进行了相应的咨询，专注于主动监测和症状控制。另外两个错构瘤息肉（胃和空肠）在术后第四周通过内窥镜检查并切除。一个普通的，1年的随访和监测显示无并发症或复发。
结论：在明确定义的综合征如PJS中偶尔会遇到不寻常的肿瘤。因此,所有PJS患者都必须进行积极的随访和监测.
