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Peutz–Jeghers syndrome – Be in need of vigilance: A case report.

Authors :
Tomey, Vandana S.
Tomey, Sudhir
Dhone, Kewal
Tapase, Tanmay
Source :
Journal of Family Medicine & Primary Care. Dec2024, Vol. 13 Issue 12, p5927-5930. 4p.
Publication Year :
2024

Abstract

ABSTRACT: Peutz–Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene. We describe the case of a 14-year-old male who presented to us with recurrent abdominal pain, vomiting and weight loss associated with growth failure. Classic melanin spots were present on lips and buccal mucosa. Diagnosis of PJS was established via clinical history, examination, CT scan, and endoscopy revealing the need for laparotomy for bowel obstruction secondary to chronic intermittent intussusception, enterotomy for small polyps. Polyp histopathology was consistent with hamartomatous polyps of PJS. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
22494863
Volume :
13
Issue :
12
Database :
Academic Search Index
Journal :
Journal of Family Medicine & Primary Care
Publication Type :
Academic Journal
Accession number :
181498510
Full Text :
https://doi.org/10.4103/jfmpc.jfmpc_958_24