PDF(Pubmed)
Abstract：
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by gastrointestinal hamartomatous polyps, due to mutation of the STK11/LKB1 gene located on chromosome 19p. The polyps are most commonly found in the small bowel followed by colon.
METHODS: Our case series includes 4 patients, three being male and one female. Each of them either presented with abdominal pain and other associated symptoms. Oral cavity and lip melanin pigmentation were common. CT abdomen revealed multiple large jejunal, ileal, gastric and colon polyps. Cancer was found in one patient. Different surgical approaches were adopted. All recovered well.
CONCLUSIONS: PJS is an autosomal dominant disorder with an estimated incidence of 1:50,000 to 1:200,000 cases with a significant family history. Mostly found in small bowel followed by colon, it can also occur in a rare organ like gall bladder as evident in our case. PJS carries a substantial risk for gastrointestinal cancer. The treatment modality depends on the site of polyp, mode of presentation and availability of the expertise.
CONCLUSIONS: PJS is a common disease in our part which is usually observed in teen age groups male. They have a varied presentation, from intestinal obstruction (due to intussusception) to GI bleeding. Colonic malignancy at young age may be the first presentation of the disease. Observation of melanin pigmentations on lips helps diagnose the disease; and one should always look at this findings in a young patient with pain abdomen or in intestinal obstruction to confirm/exclude the disease.
METHODS: Our case series includes 4 patients, three being male and one female. Each of them either presented with abdominal pain and other associated symptoms. Oral cavity and lip melanin pigmentation were common. CT abdomen revealed multiple large jejunal, ileal, gastric and colon polyps. Cancer was found in one patient. Different surgical approaches were adopted. All recovered well.
CONCLUSIONS: PJS is an autosomal dominant disorder with an estimated incidence of 1:50,000 to 1:200,000 cases with a significant family history. Mostly found in small bowel followed by colon, it can also occur in a rare organ like gall bladder as evident in our case. PJS carries a substantial risk for gastrointestinal cancer. The treatment modality depends on the site of polyp, mode of presentation and availability of the expertise.
CONCLUSIONS: PJS is a common disease in our part which is usually observed in teen age groups male. They have a varied presentation, from intestinal obstruction (due to intussusception) to GI bleeding. Colonic malignancy at young age may be the first presentation of the disease. Observation of melanin pigmentations on lips helps diagnose the disease; and one should always look at this findings in a young patient with pain abdomen or in intestinal obstruction to confirm/exclude the disease.
摘要：
背景：Peutz-Jeghers综合征（PJS）是一种罕见的遗传性疾病，以胃肠道错构瘤息肉为特征，由于位于染色体19p上的STK11/LKB1基因突变。息肉最常见于小肠，其次是结肠。
方法：我们的病例系列包括4名患者，三个是男性，一个是女性。他们每个人都表现出腹痛和其他相关症状。口腔和唇黑色素色素沉着常见。腹部CT显示多发大空肠，回肠,胃和结肠息肉。在一名患者中发现癌症。采用不同的手术方式。一切都恢复得很好。
结论：PJS是一种常染色体显性遗传病，估计发病率为1:50,000至1:200,000，有显著家族史。主要见于小肠，其次是结肠，它也可以发生在罕见的器官，如胆囊，在我们的案例中很明显。PJS具有胃肠道癌症的巨大风险。治疗方式取决于息肉的部位，专业知识的呈现方式和可用性。
结论：PJS是我们这部分的常见疾病，通常在青少年年龄组男性中观察到。他们有各种各样的介绍，从肠梗阻（肠套叠）到消化道出血。年轻时的结肠恶性肿瘤可能是该疾病的首次表现。观察嘴唇上的黑色素色素沉着有助于诊断疾病;并且人们应该总是在腹部疼痛或肠梗阻的年轻患者中观察这一发现，以确认/排除疾病。
方法：我们的病例系列包括4名患者，三个是男性，一个是女性。他们每个人都表现出腹痛和其他相关症状。口腔和唇黑色素色素沉着常见。腹部CT显示多发大空肠，回肠,胃和结肠息肉。在一名患者中发现癌症。采用不同的手术方式。一切都恢复得很好。
结论：PJS是一种常染色体显性遗传病，估计发病率为1:50,000至1:200,000，有显著家族史。主要见于小肠，其次是结肠，它也可以发生在罕见的器官，如胆囊，在我们的案例中很明显。PJS具有胃肠道癌症的巨大风险。治疗方式取决于息肉的部位，专业知识的呈现方式和可用性。
结论：PJS是我们这部分的常见疾病，通常在青少年年龄组男性中观察到。他们有各种各样的介绍，从肠梗阻（肠套叠）到消化道出血。年轻时的结肠恶性肿瘤可能是该疾病的首次表现。观察嘴唇上的黑色素色素沉着有助于诊断疾病;并且人们应该总是在腹部疼痛或肠梗阻的年轻患者中观察这一发现，以确认/排除疾病。
