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A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report

Received: 17 August 2018     Accepted: 12 September 2018     Published: 19 October 2018
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Abstract

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.

Published in American Journal of Pediatrics (Volume 4, Issue 4)
DOI 10.11648/j.ajp.20180404.11
Page(s) 80-83
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2018. Published by Science Publishing Group

Keywords

Hamartomatous Polyp, Jejunal Intussusception, Laprotomy, Peutz Jegher Syndrome

References
[1] Up To Date. Intussusception in children. [Internet] Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769477/. Accessed in August 2018.
[2] Rotesh S Mehta. Jejunal intussusception as an unusual case of abdominal pain in an adult. Mcgill J Med 2009; 12(1):28-30.
[3] Marsicovetere P, Ivatury SJ, White B, Holubar SD. Intestinal intussusception: Etiology, Diagnosis and Treatment. Clin Colon Rectal Surg 2017; 30(1): 30-39.
[4] Fusco EE, Bhimji SS. Intussusception, child. Bookshelf StatPearls [Internet]. Available fromhttps://www.ncbi.nlm.nih.gov/books/NBK431078/.
[5] 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.
[6] 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.
[7] Calva D, Howe JR Hamartomatous polyposis syndromes. SurgClin North Am. 2008 Aug; 88(4):779-817, vii.
[8] Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. 2009 Aug; 24(8):865-74.
[9] Gammon A, Jasperson K, Kohlmann W, Burt RWH amartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009; 23(2):219-31.
[10] Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep; 4(9):492-502.
[11] 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.
[12] 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.
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  • APA Style

    Prabakaran Sundararajan, Saravanan Natarajan, Kasthuri Thilagam Kannaian. (2018). A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report. American Journal of Pediatrics, 4(4), 80-83. https://doi.org/10.11648/j.ajp.20180404.11

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    ACS Style

    Prabakaran Sundararajan; Saravanan Natarajan; Kasthuri Thilagam Kannaian. A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report. Am. J. Pediatr. 2018, 4(4), 80-83. doi: 10.11648/j.ajp.20180404.11

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    AMA Style

    Prabakaran Sundararajan, Saravanan Natarajan, Kasthuri Thilagam Kannaian. A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report. Am J Pediatr. 2018;4(4):80-83. doi: 10.11648/j.ajp.20180404.11

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  • @article{10.11648/j.ajp.20180404.11,
      author = {Prabakaran Sundararajan and Saravanan Natarajan and Kasthuri Thilagam Kannaian},
      title = {A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report},
      journal = {American Journal of Pediatrics},
      volume = {4},
      number = {4},
      pages = {80-83},
      doi = {10.11648/j.ajp.20180404.11},
      url = {https://doi.org/10.11648/j.ajp.20180404.11},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20180404.11},
      abstract = {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.},
     year = {2018}
    }
    

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  • TY  - JOUR
    T1  - A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report
    AU  - Prabakaran Sundararajan
    AU  - Saravanan Natarajan
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    T2  - American Journal of Pediatrics
    JF  - American Journal of Pediatrics
    JO  - American Journal of Pediatrics
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    EP  - 83
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    AB  - 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.
    VL  - 4
    IS  - 4
    ER  - 

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Author Information
  • Department of Pediatric Surgery, Government Mohan Kumaramangalam Medical College, Salem, India

  • Department of Pediatric Surgery, Government Mohan Kumaramangalam Medical College, Salem, India

  • Department of Pathology, Government Mohan Kumaramangalam Medical College, Salem, India

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