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   Table of Contents      
CASE REPORT
Year : 2019  |  Volume : 5  |  Issue : 2  |  Page : 96-100

Peutz Jeghers syndrome presenting as intestinal obstruction with ileocolic intussusception: a rare presentation


1 Konaseema Institute of Medical Sciences and Research Foundation (KIMS&RF), Amalapuram, Andhra Pradesh, India
2 Department of Pathology, Konaseema Institute of Medical Sciences and Research Foundation (KIMS&RF), Amalapuram, Andhra Pradesh, India
3 Department of Radiodiagnosis, Apollo Hospitals, Bangalore, Karnataka, India

Date of Web Publication20-Aug-2019

Correspondence Address:
Final MBBS Part-1 Lakshmi Venkata Simhachalam Kutikuppala
Konaseema Institute of Medical Sciences and Research Foundation (KIMS&RF), Chaitanya Nagar, NH-216, Amalapuram, Andhra Pradesh - 533201
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mamcjms.mamcjms_29_19

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  Abstract 


Many cases of Peutz Jeghers Syndrome presenting as intestinal obstruction with intussusception at various levels were reported in literature. This is a case of a 35 years old male farmer who presented to our hospital with the chief complaints of brown coloured stools since one month, pain in lower abdomen and bleeding per rectum since one week. All the findings of the examination were suggestive of intestinal obstruction. Further confirmation was made by Abdominal sonography, Contrast Enhanced Computed Tomography of abdomen and Sigmoidoscopy with colonic polyp biopsy. After going through all the investigations, a clinical diagnosis of multiple intestinal polyposis with ileo-colic intussusception and small bowel obstruction was made. Right hemicolectomy with ileo-colic anastomosis was performed and the specimen was sent for histopathological examination. A final diagnosis of Peutz Jeghers Syndrome was made based on Histopathology. Post surgical prognosis was good and the patient was discharged after 13 days. A regular follow up was recommended.

Keywords: intestinal obstruction, intussusception, Peutz Jeghers Syndrome


How to cite this article:
Sathvika M, Kutikuppala LS, Pratti SD, Atmakuri SK. Peutz Jeghers syndrome presenting as intestinal obstruction with ileocolic intussusception: a rare presentation. MAMC J Med Sci 2019;5:96-100

How to cite this URL:
Sathvika M, Kutikuppala LS, Pratti SD, Atmakuri SK. Peutz Jeghers syndrome presenting as intestinal obstruction with ileocolic intussusception: a rare presentation. MAMC J Med Sci [serial online] 2019 [cited 2019 Sep 22];5:96-100. Available from: http://www.mamcjms.in/text.asp?2019/5/2/96/264779




  Introduction Top


Peutz Jeghers syndrome (PJS) is a very rare autosomal dominant inherited disorder that usually presents as multiple hamartomatous polyps in gastrointestinal (GI) tract and mucocutaneous hyperpigmentation.[1] Its prevalence at birth is approximately between 1:50,000 and 1:200,000. The polyps can cause intestinal obstruction and may become a lead point for recurrent intussusceptions.[2],[3] These cause life-threatening complications and also need numerous emergency surgical interventions.


  Case History Top


A 35-year-old Indian male [[Figure 1]] presented to the general surgery outpatient department with complaints of brown-colored stools since 1 month, pain in lower abdomen, and bleeding per rectum since 1 week. He also complained of colicky type of abdominal pain in the lower abdomen associated with rolling ball-like movement typically after 2 to 3 h of food intake followed by vomiting since 1 week. The pain slightly relieved after medication. He had been experiencing constipation on and off since 15 years. There was no history of fever, anorexia, weight loss, or any other significant systemic complaints. There was no significant past and personal history. Family history was not contributory. The findings of general examination were also not significant. No mucocutaneous hyperpigmentation was found on lips, buccal mucosa, hands, or feet. All the vitals were found to be normal. On local abdominal examination, visible peristalsis was noticed. Tenderness was present around umbilicus and right iliac fossa on palpation. Resonant note was heard all over the abdomen with no evidence of free fluid on percussion. Increased bowel sounds were noticed during auscultation. All the findings of per-rectal examination were normal. Thus, a provisional diagnosis of intestinal obstruction was made.
Figure 1 Photograph of the patient.

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Blood investigations, liver function tests, and renal function tests including urine examination were within normal limits. Abdominal ultrasound showed a typical target sign indicating ileocolic intussusception [[Figure 2]A] and intussusceptum demonstrating hypervascularity [Figure 2B]. It also revealed mesenteric lymphadenopathy. Contrast Enhanced Computed Tomography (CECT) of the abdomen showed ileocolic intussusception [[Figure 3]A] with a lobulated and significantly enhancing mass [Figure 3B], likely carcinoid or polyp, in the lumen of ascending colon as lead point resulting in small bowel obstruction and multiple polyps in small and large bowel. Sigmoidoscopy revealed colonic polyposis and a colonic polyp biopsy diagnosed them as hamartomatous polyps [[Figure 4]]. Cholelithiasis was an additional finding in the CECT of the abdomen. Clinical diagnosis was made as multiple intestinal polyposis with ileocolic intussusception and small bowel obstruction. We recommended selective Cycloxygenase-2 (COX-2) inhibitors for medical management and right hemicolectomy with ileocolic anastomosis for surgical management. Cholecystectomy was also performed simultaneously.
Figure 2 (A) USG image showing “Target sign” indicating intussusception. (B) Intussusceptum demonstrating hypervascularity.

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Figure 3 CECT images showing (A) a lobulated and significantly enhancing mass likely a polyp in the lumen of ascending colon and (B) ileocolic intussusception.

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Figure 4 (A, B) Polyps seen in sigmoidoscopy.

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After surgery, the specimen was sent for histopathological examination. The specimen contained right-sided colon with appendix, cecum, and distal ileum. Multiple polyps were found throughout the specimen [[Figure 5]A]. Largest polyp measuring 6 × 5 × 4 cm was found at ileocecal junction. Multiple sections studied from all the polyps in the ileum, cecum, colon, and appendix histologically confirmed these polyps as Peutz Jeghers (PJ) polyps [Figure 5B]. There was no evidence of any malignancy in the sections studied. Twenty-three lymph nodes in the surrounding mesentry showed the features of reactive hyperplasia with sinus catarrh. The specimen of gall bladder showed the features of chronic cholecystitis. A final diagnosis of PJS was made based on PJS diagnostic criteria given by WHO in 2010.[4]
Figure 5 (A) Multiple polyps seen throughout the specimen. (B) Histology of a typical Peutz Jeghers syndrome polyp. It shows small islands of colonic mucosal glands and lamina propria separated by ramifying bundles of smooth muscles with focal collections of lympho-mononuclear cells.

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PJS diagnostic criteria

According to PJS diagnostic criteria given by WHO in 2010, presence of any one of the following four features is diagnostic for PJS[4]:
  1. Three or more histologically confirmed PJ polyps (the present case)
  2. Any number of PJ polyps with a family history of PJS
  3. Characteristic prominent mucocutaneous pigmentation with a family history of PJS
  4. Any number of PJ polyps and characteristic prominent mucocutaneous pigmentation


We also advised for genetic testing for germline mutations in the serine/threonine kinase 11 (STK11) gene for final confirmation.[5],[6] But the patient was not interested in it.

The patient was stable after the surgery. He was put on conservative management and discharged after 13 days. The patient was managed conservatively in the ward. A postoperative abdominal ultrasound was performed along with other routine tests. He was discharged after attaining complete stability. The patient and his family were provided with genetic counseling under the guidance of a psychiatrist and geneticist. The patient was also screened for intestinal and extraintestinal malignancies that turned out to be negative. Follow-up was recommended every 6 months for Ultrasonography (USG) abdomen and endoscopy. Intestinal and extraintestinal cancer surveillance was advised throughout his life.


  Discussion Top


PJS is a rare autosomal dominant inherited syndrome that generally presents as benign hamartomatous polyps in GI tract and mucocutaneous macules on oral mucosa and lips.[1] Other names for this condition include intestinal polyposis, cutaneous pigmentation syndrome, periorificial lentiginosis syndrome, PJ polyposis, polyps and spots syndrome, hamartomatous intestinal polyposis, and perioral lentiginosis.[7],[8]

Jan Peutz (1886–1957) first described this condition in 1921 in a Dutch family. However, the dermatologic component was previously reported in 1896 by John McHutchinson. Harold Joseph Jeghers (1904–1990) published “Generalised intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance,” in 1949, in which several cases with intestinal polyposis and abnormal pigmentation were described in detail. The eponym PJS was given by Andre J. Bruwer in 1954.[8],[9]

PJS is a very rare condition whose frequency ranges from one in 50,000 to one in 200,000 births. Males and females are equally affected.[8] Around 90% of the affected individuals have a germline mutation of STK11 or LKB1 gene located on chromosome 19p13.[8]


  Conclusion Top


All the patients may not show the characteristic mucocutaneous macules as these may fade with age. Although the risk of malignant change developing within a PJS polyp is very less (around 3%–6%), the risk of other GI and non-GI malignancy is more.[4],[5],[10],[11] So, these patients require lifelong multidisciplinary care for GI polyposis and cancer. Surveillance is important so as to detect malignancy in an early phase to improve outcome.

Presentation at a meeting

This article was presented as Oral Case Presentation at OSMECON-2017, Osmania Medical College, Hyderabad, Telangana, and at EMPOWER-2018, Stanley Medical College, Chennai, Tamil Nadu.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgements

The completion of this case report could not have been possible without the contribution and support of so many people whose names may not all be enumerated. First, we would thank the Great almighty, for his precious grace on us, without which this could not be possible. Second, we would thank our Head of Department (HOD) and all the assisting staff who made this case report noteworthy. This case report was also supported by our institution, our colleagues, and many more people. We thank each and every person from the bottom of our hearts for their valuable support throughout the study. Finally, we are very much grateful to the subject of our study without whom this could not be carried out.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
James W, Berger T, Elston D. Andrews’ Diseases of the Skin: Clinical Dermatology, 10th ed.). New York: Saunders, p. 857. ISBN: 0- 7216 - 2921–0.  Back to cited text no. 1
    
2.
Basak F, Kinaci E, Aksoy S, Sevinc M, Aren A. Multiple intestinal intussusceptions in Peutz-Jeghers’ syndrome: a case report. Acta Chir Belg 2010;110:93-4.  Back to cited text no. 2
    
3.
Wang H, Luo T, Liu WQ, Huang Y, Wu XT, Wang XJ. Clinical presentations and surgical approach of acute intussusceptions caused by Peutz-Jeghers syndrome in adults. J Gastrointest Surg 2011;15:2218-25.  Back to cited text no. 3
    
4.
Shah J, Sunkara T, Xiao P, Gaduputi V, Reddy M, Razia S. Peutz-Jeghers syndrome presenting as colonic intussusception: a rare entity. Gastroenterol Res 2018;11:150-3.  Back to cited text no. 4
    
5.
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010;59:975-86.  Back to cited text no. 5
    
6.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW, American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110:223-62.  Back to cited text no. 6
    
7.
McGarrity TJ, Amos CI, Baker MJ. “Peutz-Jeghers Syndrome” https://www.ncbi.nlm.nih.gov/books/NBK1266/. Accessed March 18, 2019.  Back to cited text no. 7
    
8.
NORD (National Organisation for Rare Disorders). Peutz Jeghers Syndrome.– https://rarediseases.org/rare-diseases/peutz-jeghers-syndrome/. Accessed March 18, 2019.  Back to cited text no. 8
    
9.
Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 1949;241:1031-6.  Back to cited text no. 9
    
10.
Rathi CD, Solanke DB, Kabra NL, Ingle MA, Sawant PD. A rare case of solitary Peutz Jeghers type hamartomatous duodenal polyp with dysplasia. J Clin Diagn Res 2016;10:OD03-4.  Back to cited text no. 10
    
11.
van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010;105:1258-64.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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