Peutz Jeghers syndrome with multiple intussusceptions
Keywords:Peutz Jeghers syndrome, Intussusception, Hamartamatous polyps, Case report
Peutz Jegher’s syndrome is a rare autosomal dominant disorder characterized by the development of hamartomatous polyps and mucocutaneous melanin pigmentation. This case report shows the case of an adult Indian female with intestinal obstruction due to multiple intussusceptions that were caused by hamartomatous polyp of Peutz Jegher’s syndrome. A 32-year-old female presented to the surgical emergency with complaints of colicky abdominal pain, vomiting and melena and with a positive family history for Peutz Jegher’s syndrome. On abdominal examination, a mass was palpable in her right lumbar area and per rectal examination showed ballooning and blood staining. She was provisionally diagnosed with Peutz Jegher’s syndrome with intussusception and her ultrasound imaging of the abdomen also showed the features suggestive of intussusception. She underwent an emergency laparotomy with resection and anastomosis of the involved segment of the jejunum and limited right hemicolectomy. Intraoperative findings showed multiple intussusceptions in her both large and small bowels along with multiple polyps which was seen to be hamartomatous polyps in the histopathological studies. The postoperative period was uneventful and during the review she was healthy. Intussusception is the major complication of Peutz Jegher’s syndrome and it can be prevented with regular surveillance in known cases. Intussusception should be kept in mind as the first differential diagnosis when these patients present with acute abdomen. The investigation of choice that’s preferred is a cross sectional imaging of the gastrointestinal tract to confirm with the diagnosis. Periodic surveillance is essential in those patients with known history or those with the mutation of STK11 (LKB1) gene.
Chen J-H, Zheng J-J, Guo Q, Liu C, Luo B, Tang S-B, et al. A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. BMC Med Genet. 2017;18(1):19.
Shah SR, Basit SA. Undiagnosed Peutz-Jeghers Syndrome Presenting With Multiple, Simultaneous Small Bowel Intussusceptions: A Case Report: 2414. Official J Am Coll Gastroenterol. 2017;112.
Chiew J, Sambanthan ST, Mahendran HA. Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report. World J Clin Cases. 2021;9(23):6804-9.
Sharma M, Singh R, Grover AS. Peutz-jeghers syndrome with synchronous adenocarcinoma arising from ileal polyps. Indian J Surg. 2015;77(1):100-2.
Lam V, Sachan A, Kumar A. Peutz-Jeghers Syndrome Presented as Jejunojejunal Intussusception. Indian J Surg. 2021;1-3.
Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397-408.
Connor J. Aesculapian society of London. Lancet. 1895;2(1):169.
Choudhury S, Das A, Misra P, Ray U, Sarangi S. Peutz-Jeghers Syndrome: A Circumventable Emergency. Indian J Dermatol. 2018;63(2):168-71.
Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet. 2004;41(5):327-33.
Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136(2):71-82.
Kopácová M, Bures J, Vykouril L, Hladík P, Simkovic D, Jon B, et al. Intraoperative enteroscopy: ten years' experience at a single tertiary center. Surg Endosc. 2007;21(7):1111-6.
Sunada K, Yamamoto H. Double-balloon endoscopy: past, present, and future. J Gastroenterol. 2009;44(1):1-12.
Udd L, Katajisto P, Rossi DJ, Lepistö A, Lahesmaa AM, Ylikorkala A, et al. Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology. 2004;127(4):1030-7.
Lin BC, Lien JM, Chen RJ, Fang JF, Wong YC. Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome. Surg Endosc. 2000;14(12):1185-7.
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-15.
Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53.
Gay G, Delvaux M, Frederic M. Capsule endoscopy in non-steroidal anti-inflammatory drugs-enteropathy and miscellaneous, rare intestinal diseases. World J Gastroenterol. 2008;14(34):5237-44.
Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol. 2001;8(4):319-27.