Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review
<h3>Rationale</h3><p dir="ltr">Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our kno...
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2021
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| _version_ | 1864513564280094720 |
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| author | Zlatan Zvizdic (9212371) |
| author2 | Emir Milisic (9212377) Nermina Ibisevic (16322899) Irmina Sefic Pasic (16322902) Semir Vranic (3353012) |
| author2_role | author author author author |
| author_facet | Zlatan Zvizdic (9212371) Emir Milisic (9212377) Nermina Ibisevic (16322899) Irmina Sefic Pasic (16322902) Semir Vranic (3353012) |
| author_role | author |
| dc.creator.none.fl_str_mv | Zlatan Zvizdic (9212371) Emir Milisic (9212377) Nermina Ibisevic (16322899) Irmina Sefic Pasic (16322902) Semir Vranic (3353012) |
| dc.date.none.fl_str_mv | 2021-10-01T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1097/md.0000000000027389 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Appendiceal_carcinoid_in_a_pediatric_patient_with_Peutz-Jeghers_syndrome_A_case_report_and_comprehensive_literature_review/23380079 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Cardiovascular medicine and haematology Clinical sciences Oncology and carcinogenesis Paediatrics appendix carcinoid children hamartomas intussusception Peutz-Jeghers syndrome |
| dc.title.none.fl_str_mv | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Rationale</h3><p dir="ltr">Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our knowledge, only 1 case of appendiceal carcinoid associated with PJS has been previously reported in the pediatric population.</p><h3>Patient concerns</h3><p dir="ltr">We report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted.</p><h3>Diagnosis</h3><p dir="ltr">A plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a “coffee bean” appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps.</p><h3>Interventions</h3><p dir="ltr">An emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed.</p><h3>Outcomes</h3><p dir="ltr">Clinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences.</p><h3>Lessons</h3><p dir="ltr">Unusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.</p><h2>Other Information</h2><p dir="ltr">Published in: Medicine<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1097/md.0000000000027389" target="_blank">http://dx.doi.org/10.1097/md.0000000000027389</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_bdea66f48d5d1ba86eeaa654baa5cae6 |
| identifier_str_mv | 10.1097/md.0000000000027389 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/23380079 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature reviewZlatan Zvizdic (9212371)Emir Milisic (9212377)Nermina Ibisevic (16322899)Irmina Sefic Pasic (16322902)Semir Vranic (3353012)Biomedical and clinical sciencesCardiovascular medicine and haematologyClinical sciencesOncology and carcinogenesisPaediatricsappendixcarcinoidchildrenhamartomasintussusceptionPeutz-Jeghers syndrome<h3>Rationale</h3><p dir="ltr">Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our knowledge, only 1 case of appendiceal carcinoid associated with PJS has been previously reported in the pediatric population.</p><h3>Patient concerns</h3><p dir="ltr">We report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted.</p><h3>Diagnosis</h3><p dir="ltr">A plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a “coffee bean” appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps.</p><h3>Interventions</h3><p dir="ltr">An emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed.</p><h3>Outcomes</h3><p dir="ltr">Clinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences.</p><h3>Lessons</h3><p dir="ltr">Unusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.</p><h2>Other Information</h2><p dir="ltr">Published in: Medicine<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1097/md.0000000000027389" target="_blank">http://dx.doi.org/10.1097/md.0000000000027389</a></p>2021-10-01T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1097/md.0000000000027389https://figshare.com/articles/journal_contribution/Appendiceal_carcinoid_in_a_pediatric_patient_with_Peutz-Jeghers_syndrome_A_case_report_and_comprehensive_literature_review/23380079CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/233800792021-10-01T09:00:00Z |
| spellingShingle | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review Zlatan Zvizdic (9212371) Biomedical and clinical sciences Cardiovascular medicine and haematology Clinical sciences Oncology and carcinogenesis Paediatrics appendix carcinoid children hamartomas intussusception Peutz-Jeghers syndrome |
| status_str | publishedVersion |
| title | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| title_full | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| title_fullStr | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| title_full_unstemmed | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| title_short | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| title_sort | Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review |
| topic | Biomedical and clinical sciences Cardiovascular medicine and haematology Clinical sciences Oncology and carcinogenesis Paediatrics appendix carcinoid children hamartomas intussusception Peutz-Jeghers syndrome |