PDF(Pubmed)
Abstract：
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant congenital disorder characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous lentiginosis. It is associated with an elevated risk of cancer and substantial morbidity related to polyps, notably intestinal intussusception during childhood.
METHODS: We report the case of an 18-year-old female patient, who consulted for subocclusif syndrome with multiple pigmented spots on the face and lips. Abdominal computed tomography (CT) revealed an image of ileo-mesenterico-colic intussusception. The patient underwent a hemicolectomy involving the ileum, removing the intussusception and the ileal polyp. The pathologic examination confirmed the diagnosis of Peutz-Jeghers polyps without malignancy.
CONCLUSIONS: The diagnosis of SPJ can be established in patients presenting one or more polyps and at least two of the associated clinical criteria: labial melanin deposits, family history of the syndrome and polyposis of the small bowel. Half of the cases present with small bowel obstruction. PJS is associated with an increased risk of gastrointestinal and non-gastrointestinal malignancies. Endoscopic or surgical polypectomy remains the preferred treatment options to prevent complications.
CONCLUSIONS: Regular surveillance of the gastrointestinal tract is recommended both for cancer prevention and early detection, and to prevent polyp-related complications and certainly improve prognosis in these patients.
METHODS: We report the case of an 18-year-old female patient, who consulted for subocclusif syndrome with multiple pigmented spots on the face and lips. Abdominal computed tomography (CT) revealed an image of ileo-mesenterico-colic intussusception. The patient underwent a hemicolectomy involving the ileum, removing the intussusception and the ileal polyp. The pathologic examination confirmed the diagnosis of Peutz-Jeghers polyps without malignancy.
CONCLUSIONS: The diagnosis of SPJ can be established in patients presenting one or more polyps and at least two of the associated clinical criteria: labial melanin deposits, family history of the syndrome and polyposis of the small bowel. Half of the cases present with small bowel obstruction. PJS is associated with an increased risk of gastrointestinal and non-gastrointestinal malignancies. Endoscopic or surgical polypectomy remains the preferred treatment options to prevent complications.
CONCLUSIONS: Regular surveillance of the gastrointestinal tract is recommended both for cancer prevention and early detection, and to prevent polyp-related complications and certainly improve prognosis in these patients.
摘要：
背景：Peutz-Jeghers综合征（PJS）是一种罕见的常染色体显性遗传先天性疾病，其特征是胃肠道中存在错构瘤性息肉和粘膜皮肤扁桃体病。它与癌症风险升高和与息肉相关的大量发病率有关，尤其是儿童时期的肠套叠。
方法：我们报告了一名18岁的女性患者，他咨询了面部和嘴唇上有多个色素性斑点的subocclusif综合征。腹部计算机断层扫描（CT）显示回肠肠系膜肠套叠的图像。患者接受了涉及回肠的半结肠切除术，切除肠套叠和回肠息肉.病理检查证实诊断为Peutz-Jeghers息肉，无恶性肿瘤。
结论：SPJ的诊断可以在出现一个或多个息肉和至少两个相关临床标准的患者中确定：唇黑色素沉积，综合征和小肠息肉病的家族史。一半的病例表现为小肠梗阻。PJS与胃肠道和非胃肠道恶性肿瘤的风险增加有关。内镜或手术息肉切除术仍然是预防并发症的首选治疗选择。
结论：对于癌症预防和早期发现，建议定期监测胃肠道。并预防息肉相关并发症，当然改善这些患者的预后。
方法：我们报告了一名18岁的女性患者，他咨询了面部和嘴唇上有多个色素性斑点的subocclusif综合征。腹部计算机断层扫描（CT）显示回肠肠系膜肠套叠的图像。患者接受了涉及回肠的半结肠切除术，切除肠套叠和回肠息肉.病理检查证实诊断为Peutz-Jeghers息肉，无恶性肿瘤。
结论：SPJ的诊断可以在出现一个或多个息肉和至少两个相关临床标准的患者中确定：唇黑色素沉积，综合征和小肠息肉病的家族史。一半的病例表现为小肠梗阻。PJS与胃肠道和非胃肠道恶性肿瘤的风险增加有关。内镜或手术息肉切除术仍然是预防并发症的首选治疗选择。
结论：对于癌症预防和早期发现，建议定期监测胃肠道。并预防息肉相关并发症，当然改善这些患者的预后。
