University of Colorado School of Medicine, Aurora, CO, USA.
J Pediatr Gastroenterol Nutr. 2013 Feb;56(2):191-5. doi: 10.1097/MPG.0b013e318271643c.
We reviewed our institution's experience with Peutz-Jegher syndrome (PJS) in children to determine whether current recommendations on timing of screening and follow-up should be modified.
We reviewed the charts of all of the children with a diagnosis of PJS at our institution from 2000 to 2011 abstracting data on intussusceptions events, polyp characteristics, Sertoli cell (SC) tumors, family history, imaging, and interventions.
Of 14 children identified, 10 were boys. Median age at first clinical evaluation was 4.5 years, and family history and/or mucocutaneous pigmentation were the 2 most common factors stimulating screening. Median age at first screening test was 5 years (range 1-16), and at first polyp identification, 5 years (range 1 to 18). There were 7 intussusception events in 5 children, with median age of 10 and range 5 to 16 for first event. Two boys had SC tumors at 8 and 11 years. Polyps were identified during initial screening in 9 of 14 patients. Polyps were found in the stomach or duodenum in 5 (36%), small bowel in 7, (50%) and colon in 3 (21%) children. Large polyps were identified in 9 children at median age of 7 years.
Polyps causing significant clinical consequences can occur frequently in children with PJS younger than 8 years. Revised guidelines should consider initial screening at age 4 to 5 with capsule endoscopy and upper and lower endoscopy as well as evaluation for SC tumors and re-evaluation whenever symptoms suggest polyp-associated complications.
我们回顾了我院儿童时期患 Peutz-Jegher 综合征（PJS）的经验，以确定目前关于筛查和随访时机的建议是否需要修改。
我们回顾了 2000 年至 2011 年在我院诊断为 PJS 的所有儿童的病历，摘要记录了肠套叠事件、息肉特征、Sertoli 细胞瘤、家族史、影像学和干预措施的数据。
共发现 14 例患儿，其中 10 例为男性。首次临床评估的中位年龄为 4.5 岁，家族史和/或黏膜色素沉着是刺激筛查的两个最常见因素。首次筛查测试的中位年龄为 5 岁（范围 1-16 岁），首次发现息肉的中位年龄为 5 岁（范围 1-18 岁）。5 名儿童中有 7 例肠套叠，首次发病年龄中位数为 10 岁，范围为 5-16 岁。2 名男孩分别在 8 岁和 11 岁时患有 Sertoli 细胞瘤。14 例患者中有 9 例在初次筛查时发现了息肉。5 例（36%）患儿的息肉位于胃或十二指肠，7 例（50%）位于小肠，3 例（21%）位于结肠。9 例患儿的息肉较大，中位年龄为 7 岁。
在 8 岁以下的 PJS 儿童中，可能经常出现引起明显临床后果的息肉。修订指南应考虑在 4 至 5 岁时进行初始筛查，包括胶囊内镜和上、下消化道内镜检查，以及 Sertoli 细胞瘤的评估，并在出现任何症状提示息肉相关并发症时进行再次评估。
