A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions

Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family...

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Detalles Bibliográficos
Autores principales: Gorji, Leva, Huish, Grant, Morgan, Joshua, Levy, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907407/
https://www.ncbi.nlm.nih.gov/pubmed/35280052
http://dx.doi.org/10.1093/jscr/rjac070
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author Gorji, Leva
Huish, Grant
Morgan, Joshua
Levy, Paul
author_facet Gorji, Leva
Huish, Grant
Morgan, Joshua
Levy, Paul
author_sort Gorji, Leva
collection PubMed
description Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age.
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spelling pubmed-89074072022-03-10 A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions Gorji, Leva Huish, Grant Morgan, Joshua Levy, Paul J Surg Case Rep Case Report Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age. Oxford University Press 2022-03-09 /pmc/articles/PMC8907407/ /pubmed/35280052 http://dx.doi.org/10.1093/jscr/rjac070 Text en Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2022. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Gorji, Leva
Huish, Grant
Morgan, Joshua
Levy, Paul
A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title_full A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title_fullStr A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title_full_unstemmed A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title_short A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions
title_sort case of sporadic peutz-jeghers syndrome presenting as multiple intussusceptions
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907407/
https://www.ncbi.nlm.nih.gov/pubmed/35280052
http://dx.doi.org/10.1093/jscr/rjac070
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