A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report
American Journal of Pediatrics
Volume 4, Issue 4, December 2018, Pages: 80-83
Received: Aug. 17, 2018;
Accepted: Sep. 12, 2018;
Published: Oct. 19, 2018
Views 644 Downloads 57
Prabakaran Sundararajan, Department of Pediatric Surgery, Government Mohan Kumaramangalam Medical College, Salem, India
Saravanan Natarajan, Department of Pediatric Surgery, Government Mohan Kumaramangalam Medical College, Salem, India
Kasthuri Thilagam Kannaian, Department of Pathology, Government Mohan Kumaramangalam Medical College, Salem, India
Follow on us
Background: Intussusception is a common abdominal emergency requiring surgical intervention in newborns and infants. They commonly present in babies less than 2 years of age. A vast majority of intussusceptions are idiopathic. They rarely present in older age groups and in adults. Certain autosomal disorders may be linked to intussusceptions. Peutz Jegher Syndrome is a rare autosomal dominant disorder resulting due to mutation in the SPK 11 gene located in chromosome 19q13.3. The disease is characterized by multiple hamartomatous polyposis, jejuna intussusceptions and hyperpigmented melanotic spots in the mucocutaneous regions like mouth, etc. Case report: We present a case of 12 year old girl with chronic stomach pain and occasional vomiting. General examination showed presence of hyperpigmented spots in the soles, cheeks, lips and mouth. CECT abdomen showed presence of jejunal intussusception. The patient was taken up for laproscopy and laparotomy was performed after reducing the intussusceptions. A soliatary sessile polyp was removed and histopathological examination confirmed the presence of hamartomatous polyp. There is an increased susceptibility of cancers of gastrointestinal system and several other organs like breast, ovaries, etc. Conclusion: Further research in this area may be carried out to explore the risk factors and genetic mechanisms which may help in early detection and prevention of such rare syndromes.
Hamartomatous Polyp, Jejunal Intussusception, Laprotomy, Peutz Jegher Syndrome
To cite this article
Kasthuri Thilagam Kannaian,
A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report, American Journal of Pediatrics.
Vol. 4, No. 4,
2018, pp. 80-83.
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/
) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Up To Date. Intussusception in children. [Internet] Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769477/. Accessed in August 2018.
Rotesh S Mehta. Jejunal intussusception as an unusual case of abdominal pain in an adult. Mcgill J Med 2009; 12(1):28-30.
Marsicovetere P, Ivatury SJ, White B, Holubar SD. Intestinal intussusception: Etiology, Diagnosis and Treatment. Clin Colon Rectal Surg 2017; 30(1): 30-39.
Fusco EE, Bhimji SS. Intussusception, child. Bookshelf StatPearls [Internet]. Available fromhttps://www.ncbi.nlm.nih.gov/books/NBK431078/.
Thakker HH, Joshi A, Deshpande A. Peutz-Jegher’s Syndrome presenting as jejunoileal intussusception in an adult male: a case report. Cases J 2009; 2:8865.
Peutz JLA. Over eenzeermerkwaardige, gecombineerdefamiliairepollyposis van de sligmliezen van den tractusintestinalis met die van de neuskeelholte en gepaard met eigenaardigepigmentaties van huid-en slijmvliezen (Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane; in Dutch) Nederl Maandschr v Geneesk. 1921; 10:134–146.
Calva D, Howe JR Hamartomatous polyposis syndromes. SurgClin North Am. 2008 Aug; 88(4):779-817, vii.
Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. 2009 Aug; 24(8):865-74.
Gammon A, Jasperson K, Kohlmann W, Burt RWH amartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009; 23(2):219-31.
Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep; 4(9):492-502.
Katajisto P, Vallenius T, Vaahtomeri K, Ekman N, Udd L, Tiainen M, Mäkelä TP The LKB1 Tumor suppressor kinase in human disease. Biochim Biophys Acta. 2007 Jan; 1775(1):63-75.
deLeng WW J, Jansen M, Keller JJ, de Gijsel M, Milne ANA, Morsink FHM, et al. Peutz Jegher Syndrome polyps are polyclonal with expanded progenitor cell compartment. Gut 2007;56:1475-1476.