A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine

We report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the in...

Full description

Bibliographic Details
Main Authors: Anna Rycyk, Beata Kasztelan-Szczerbinska, Halina Cichoz-Lach
Format: Article
Language:English
Published: Pensoft Publishers 2022-08-01
Series:Folia Medica
Subjects:
Online Access:https://foliamedica.bg/article/67044/download/pdf/
_version_ 1811183610028359680
author Anna Rycyk
Beata Kasztelan-Szczerbinska
Halina Cichoz-Lach
author_facet Anna Rycyk
Beata Kasztelan-Szczerbinska
Halina Cichoz-Lach
author_sort Anna Rycyk
collection DOAJ
description We report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the intussusception we observed in our patient. Her condition (recurrent abdominal pain and vomiting) in childhood required further diagnostic procedures. Although the diagnosis of PJS was made, among many resected polyps, one of them appeared to be a juvenile polyp. The diagnosis was confirmed in the histopathology report, which was incredibly unique. Genetic testing revealed LKB1/STK11 gene mutation. Clinicians should be aware of the malignant potential in the course of PJS. Hence, these patients require tailor-made management, long-term follow-up, and our particular attention.
first_indexed 2024-04-11T09:49:51Z
format Article
id doaj.art-96b7644a715b46c0b62d155304a7b843
institution Directory Open Access Journal
issn 1314-2143
language English
last_indexed 2024-04-11T09:49:51Z
publishDate 2022-08-01
publisher Pensoft Publishers
record_format Article
series Folia Medica
spelling doaj.art-96b7644a715b46c0b62d155304a7b8432022-12-22T04:30:50ZengPensoft PublishersFolia Medica1314-21432022-08-0164469369610.3897/folmed.64.e6704467044A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestineAnna Rycyk0Beata Kasztelan-Szczerbinska1Halina Cichoz-Lach2Medical University of LublinMedical University of LublinMedical University of LublinWe report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the intussusception we observed in our patient. Her condition (recurrent abdominal pain and vomiting) in childhood required further diagnostic procedures. Although the diagnosis of PJS was made, among many resected polyps, one of them appeared to be a juvenile polyp. The diagnosis was confirmed in the histopathology report, which was incredibly unique. Genetic testing revealed LKB1/STK11 gene mutation. Clinicians should be aware of the malignant potential in the course of PJS. Hence, these patients require tailor-made management, long-term follow-up, and our particular attention.https://foliamedica.bg/article/67044/download/pdf/cancercolonic polypgastrointestinal polypsha
spellingShingle Anna Rycyk
Beata Kasztelan-Szczerbinska
Halina Cichoz-Lach
A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
Folia Medica
cancer
colonic polyp
gastrointestinal polyps
ha
title A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
title_full A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
title_fullStr A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
title_full_unstemmed A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
title_short A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine
title_sort rare case of a juvenile polyp of patient with peutz jeghers syndrome complicated with intussusception of the small intestine
topic cancer
colonic polyp
gastrointestinal polyps
ha
url https://foliamedica.bg/article/67044/download/pdf/
work_keys_str_mv AT annarycyk ararecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine
AT beatakasztelanszczerbinska ararecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine
AT halinacichozlach ararecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine
AT annarycyk rarecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine
AT beatakasztelanszczerbinska rarecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine
AT halinacichozlach rarecaseofajuvenilepolypofpatientwithpeutzjegherssyndromecomplicatedwithintussusceptionofthesmallintestine