Peutz Jeghers syndrome with multiple intussusceptions
نویسندگان
چکیده
Peutz Jegher’s syndrome is a rare autosomal dominant disorder characterized by the development of hamartomatous polyps and mucocutaneous melanin pigmentation. This case report shows an adult Indian female with intestinal obstruction due to multiple intussusceptions that were caused polyp syndrome. A 32-year-old presented surgical emergency complaints colicky abdominal pain, vomiting melena positive family history for On examination, mass was palpable in her right lumbar area per rectal examination showed ballooning blood staining. She provisionally diagnosed intussusception ultrasound imaging abdomen also features suggestive intussusception. underwent laparotomy resection anastomosis involved segment jejunum limited hemicolectomy. Intraoperative findings both large small bowels along which seen be histopathological studies. The postoperative period uneventful during review she healthy. Intussusception major complication it can prevented regular surveillance known cases. should kept mind as first differential diagnosis when these patients present acute abdomen. investigation choice that’s preferred cross sectional gastrointestinal tract confirm diagnosis. Periodic essential those or mutation STK11 (LKB1) gene.
منابع مشابه
Peutz-Jeghers syndrome
Introduction Peutz-Jeghers syndrome (PJS) is characterized by: (i) autosomal dominant inheritance; (ii) cutaneous pigmentation; (iii) gastro-intestinal polyposis. In all, more than 300 cases have been described with a world-wide distribution and no racial predilection. In 1921 Peutz described 7 cases of multiple intestinal polyps associated with melanin spots on the lips, buccal mucosa and digi...
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors....
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly intere...
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disorder, which is characterized by mucocutaneous pigmentations, gastrointestinal polyposis and an increased risk of cancer. It is caused by germline mutations in the LKB1 tumour suppressor gene, as a result of which hamartomatous polyps can develop already at an early age, which may cause various complications, including abdominal ...
متن کاملPeutz-Jeghers syndrome, case report.
Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastro intestinal (GI) tract, with pigmentation around lips and macules on the buccal mucosa. The case of a 10-year-old girl who presented with intussusception is reported. A polyp was found to be the cause of an invagination. Histologically it was a hamartoma. PJS is a rare syndrome inherited in an autosomal dominant pat...
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ژورنال
عنوان ژورنال: International Surgery Journal
سال: 2022
ISSN: ['2349-2902', '2349-3305']
DOI: https://doi.org/10.18203/2349-2902.isj20222952