Thakker Hardik H, Joshi Amita, Deshpande Aparna
Seth G S Medical College and KEM hospital, Parel, Mumbai 400012, India.
Cases J. 2009 Aug 11;2:8865. doi: 10.4076/1757-1626-2-8865.
Peutz-Jegher's syndrome is a rare autosomal dominant disorder that typically manifests itself as recurrent colicky abdominal pain and blood loss in stools. In adults, it is only rarely accompanied by frank intussusception and intestinal obstruction. We encountered an adult Asian Indian male who presented with an intestinal obstruction due to jejunoileal intussusception. It was caused by a 3.5 cm large hamartomatous polyp of Peutz-Jegher's syndrome. We feel reporting the unusual presentation of this rare condition may be a noteworthy contribution to the scarce literature on Peutz-Jegher's syndrome from India. The case report may be of educational importance to the clinicians and students because it is unusual to see this case in typical clinical practice.
A 38-year-old Asian Indian male presented to us in the surgical emergency room with colicky abdominal pain, reporting vomiting and blood in stools over the previous two days. Clinical examination suggested intestinal obstruction. Ultrasonography of the abdomen showed signs of intussusceptions, which were then confirmed by an emergency exploratory laparotomy. We resected the intussuscepted small bowel segment and performed a jejuno-ileal anastomosis. A histopathology examination of the resected specimen revealed multiple hamartomatous polyps suggestive of Peutz-Jegher's syndrome. In this case report, we present the pathology findings, their clinical correlation and a detailed discussion of Peutz-Jegher's syndrome and adult intussusception. We also discuss its other rare presentations reported in literature.
Hamartomatous polyps of Peutz-Jegher's syndrome can sometimes grow to a large size and form the lead point of an intussusception.
黑斑息肉综合征是一种罕见的常染色体显性疾病，通常表现为反复发作的绞痛性腹痛和便血。在成年人中，很少伴有明显的肠套叠和肠梗阻。我们遇到一名成年亚洲印度男性，因空肠回肠套叠导致肠梗阻。病因是一个3.5厘米大的黑斑息肉综合征错构瘤性息肉。我们认为，报告这种罕见疾病的不寻常表现，可能会为来自印度的关于黑斑息肉综合征的稀少文献做出值得注意的贡献。该病例报告对临床医生和学生可能具有教育意义，因为在典型临床实践中很少见到这种病例。
一名38岁的亚洲印度男性因绞痛性腹痛被送到我们的外科急诊室，报告在过去两天里有呕吐和便血症状。临床检查提示肠梗阻。腹部超声显示有肠套叠迹象，随后经急诊剖腹探查得以证实。我们切除了套叠的小肠段并进行了空肠回肠吻合术。对切除标本的组织病理学检查显示有多个错构瘤性息肉，提示为黑斑息肉综合征。在本病例报告中，我们展示了病理结果、它们与临床的相关性，并对黑斑息肉综合征和成人肠套叠进行了详细讨论。我们还讨论了文献中报道的其他罕见表现。
黑斑息肉综合征的错构瘤性息肉有时会长得很大，并形成肠套叠的起始点。
