黑斑息肉病临床诊断和影像检查意义

Peutz-Jeghers syndrome: the value of clinical and radiological examination

目的:黑斑息肉病(PJS)是常染色体显性遗传病,属少见病,通过临床表现及影像学分析,加深对此少见病的认识。方法:收集我院1994年10月～2004年6月入院诊治的PJS患者26例,男12例,女14例。22例行结肠镜检查;23例行全消化道造影检查;4例患者行腹部CT及CT三维结肠重建和仿真内窥镜检查。结果:①临床以口唇粘膜、肢端色素沉着为体征,腹痛、腹胀及消化道出血为症状。②结肠镜检查19例发现结肠多发息肉;全消化道造影21例发现小肠多发息肉;CT结肠仿真内镜均发现多发息肉;2例随诊病例确诊结肠腺癌。结论:PJS恶变率远高于正常人群,内窥镜活检及染色体检查是诊断关键,影像学检查对发现息肉,特别是小肠息肉有重要诊断意义,而且为无创的定期复查提供了平台。

Objective: Peutz-Jeghers syndrome(PJS) is a rare autosomal dominan t inherited disorder. The purpose of this study was to improve clinical knowledg e of PJS through retrospective analysis of clinical presentation and imaging fin dings. Method: Twenty-six patients who were diagnosed as PJS in our hospital fro m Oct 1994 to Jun 2004 were enrolled in the study. Twelve were men and 14 were w omen. Twenty-two of them underwent colonoscopy, 23 of them underwent gastrointes tinal barium meal examination. Four of them underwent abdominal CT and CT virtua l colonoscopy. Results: ①PJS was characterized by signs of pigmentation of peri oral skin and oral mucosa, together with pigmentation of skin in distal extremit ies. Its presenting symptoms were abdominal pain, distention and gastrointestina l bleeding. ②Multiple polyps in colon mucosa were found in 19 cases by colonosc opy. Twenty-one cases with gastric and small intestinal polyps were revealed by GI barium meal examination. CT virtual colonoscopy could show multiple polyps. T wo carcinoma of colon were found out during regular follow-up period. Conclusion s: The clinical features, endoscopic biopsy and chromosomal examination were the key elements for correct diagnosis of PJS. Imaging techniques were important to find polyps(especially intestinal polyps) and also provided noninvasive measure s for regular follow-up.