A Case of Peutz-Jeghers Syndrome with Multiple Intussusceptions
Keywords:
Peutz-Jeghers Syndrome, Polyp, Intussusception, Jejunum
Abstract
Peutz-jeghers syndrome (PJS) is an autosomal dominant cancer syndrome with variable penetrance and characterised by hamartomatous polyp in gastrointestinal tract with mucocutaneous pigmentation. Approximately one third of PJS patients present in the first decade of life, the rest of them present by second or third decade with equal predilection for both males and females.The most common site of Peutz-jeghers polyp is jejunum. Most of the cases are associated with germline mutations in LKB1/STK11 located on chromosome 19p13.3.The most frequent presentation is intermittent abdominal pain due to intestinal obstruction or intussuception. However intusussception in adults are rare compared to children. Here we present a case of 22 years female who presented with Peutz-jeghers syndrome with multiple intussusceptions.References
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2. Sreeramulu PN, Agrawal VP. A rare case of multiple intussusceptions in Peutz-Jeghers syndrome. Journal of Medical & Allied Sciences. 2013 Feb 28;3(1):26.
3. Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. Journal of medical genetics. 2006 May 1;43(5):e18-.
4. McGarrity TA, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cellular and Molecular Life Sciences CMLS. 2006 Sep 1;63(18):2135-44.
5. Weng MT, Ni YH, Su YN, Wong JM, Wei SC. Clinical and genetic analysis of Peutz-Jeghers syndrome patients in Taiwan. Journal of the Formosan Medical Association. 2010 May 31;109(5):354-61.
6. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinical Cancer Research. 2006 May 15;12(10):3209-15.
7. Bhattacharya S, Mahapatra SR, Nangalia R, Palit A, Morrissey JR, Ruban E, Jadhav V, Mathew G. Melaena with Peutz-Jeghers syndrome: a case report. Journal of medical case reports. 2010 Feb 8;4(1):1.
8. Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009 Nov 21;15(43):5397-408.
Published
2016-12-10
Section
Case Report
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