Peutz-Jeghers syndrome: A case series.
| Autor: | Pandit N; Department of Surgical Gastroenterology, Birat Medical College Teaching Hospital, Morang, Nepal. Electronic address: narendrapandit111@gmail.com., Neupane D; Department of Surgical Gastroenterology, BP Koirala Institute of Health Sciences, Dharan, Nepal., Deo KB; Department of Surgical Gastroenterology, BP Koirala Institute of Health Sciences, Dharan, Nepal. |
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| Jazyk: | angličtina |
| Zdroj: | International journal of surgery case reports [Int J Surg Case Rep] 2024 Sep; Vol. 122, pp. 110117. Date of Electronic Publication: 2024 Aug 03. |
| DOI: | 10.1016/j.ijscr.2024.110117 |
| Abstrakt: | Introduction: 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. Case Presentation: 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. Discussion: 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. Conclusion: 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. Competing Interests: Conflict of interest statement None. (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.) |
| Databáze: | MEDLINE |
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