Peutz-Jeghers综合征
STK11段
医学
移码突变
胃肠病学
穿孔
剖腹手术
内科学
外显子
病理
外科
癌症
结直肠癌
基因
遗传学
生物
冶金
材料科学
冲孔
克拉斯
作者
Zhiheng Huang,Zai Song,Ping Zhang,Jie Wu,Ying Huang
标识
DOI:10.3748/wjg.v22.i11.3261
摘要
AIM:To investigate multiple polyps in a Chinese Peutz-Jeghers syndrome (PJS) infant. METHODS:A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month.The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained.Serine threonine-protein kinase 11 (STK11 ) gene analysis was also performed using a DNA sample from this infant. RESULTS:Here we describe the youngest known Chinese infant with PJS.Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine.Laparotomy was performed to repair a perforation caused by pneumoperitoneum.The pathological results showed
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