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A Peutz Jeghers Syndrome Case with Jejunojejunal Intussusception and Serous Cystadenoma of Left Ovary
BM Subnis*,Waqar Ahmed Ansari**, Vinaya Ambore***, Veerendra Rajpurohit****, Suraj Chavan****, Amit Desai****
 

A 29 year old female presented with central abdominal pain with vomiting since seven days with no history of constipation or abdominal distension. There was no history of bleeding per rectum. On general examination evidence of mucocutaneous pigmentation of lower lip and buccal mucosa as well as pigmentation on fingers was present. Plain X-ray Abdomen was normal. Sonography of the abdomen revealed left adnexal mass of 8.1 x 8.1 cm. CT Scan of the abdomen for pain in the central abdomen revealed intussusception of the small bowel with left ovarian cyst displacing the bladder to right.
Exploratory laparotomy with excision of the cyst and resection and anastomosis of the intussusception done. The cause of intussusception was a polyp of 4 x 4 x 3 cm with about 3.4 cm long narrow stalk.On further examination of the whole of the gastrointestinal tract a small pedunculated polyp of 2 x 1.5 x 1.5 cm in the jejunum was found, which was excised by enterotomy. Patient stood the procedure well. Histopathology of the specimen showed hamartomatous polyps with serous cystadenoma of ovary, confirming the diagnosis of Peutz-Jeghers Syndrome.

Introduction
Peutz Jeghers Syndrome is a rare syndrome, first described in 1921. It is a familial disorder with autosomal dominant inheritance.It is characterized by hamartomatous intestinal polyposis and mucocutaneous pigmentation of the lips, face, fingers, perianal and perigenital region. It is associated with higher incidence of cancers of the gastrointestinal tract, gall bladder, pancreas, respiratory system, urogenital system. Malignant melanomas are also common in these patients. Clinical manifestations of the patient may be anaemia due to bleeding from polyps, intussusception and different types of malignancies.

Therapy for gastrointestinal polyps are endoscopic removal of polyp if accessible or by laparotomy technique. Treatment is directed for the complications of polyp. Serial follow up of these patients is necessary for management. First degree relatives of the patient should be screened for the same.

Case Report
A 29 year old female presented with pain in the central abdomen, colicky in nature, with occasional vomiting. No history of bleeding per rectum or any menstrual complaint. On general examination, multiple mucocutaneous small pigmentation of lower lip and buccal mucous membrane along with pigmentation of the fingers were present. There was no evidence of perianal/perivaginal mucocutaneous pigmentation. Vital parameters of the patient were normal.No evidence of pallor.

Plain X-ray of the abdomen of the patient was normal. Ultrasonography showed a large 10 x 10 x 6 cm left ovarian cyst. All of the patients symptoms were not correlating with left ovarian cyst. CT Scan of the abdomen was done, while patient was being managed in the ward for subacute intestinal obstruction. She was able to take liquid diets without any problem, but unable to take solid food. CT showed proximal jejunojejunal intussusception with left ovarian cyst, stomach, pancreas, liver and the rest of the small and large bowel normal. Uterus and right adnexa were normal. Haemoglobin, complete blood counts, renal function tests, liver function tests and blood sugar were normal. X-ray chest normal.

After the diagnosis of intussusception , and as the patient was not tolerating solid foods, exploratory laparotomy was done. Excision of left ovarian cyst with resection and anastomosis of the intussusception was done. Mucosal surface of the intussusception showed 2 pedunculated polyps of 4 x 4 x 3 cm and 2 x 1 x 1 cm which tend to the suspicion of Peutz Jeghers syndrome.On further examination of the 1.5 x 1.5 cm proximal to the intussusception was found which was removed by enterotomy. Stomach, rest of the small bowel, large bowel and rectum were normal. Patient stood the procedure well.

Histopathology of the resected specimen revealed hamartomatous polyp with serous cystadenoma of left ovary, confirming the diagnosis of Peutz-Jeghers Syndrome.

Fig. 1 : Photograph of patient showing mucocutaneous pigmentation. Fig. 2 : Photograph of right hand showing pigmentation of fingers.
Fig. 3 : C.T. scan showing left ovarian cyst.
Fig. 4 : C.T. Scan showing jejunal intussusceptions. Fig. 6 : Internal surface of jejunum showing polyp.
Fig. 5 : Intraoperative figure showing intussusception and left ovarian cyst.
Discussion
Peutz Jeghers Syndrome (PJS) is an unusual complex hereditary polyposis affecting the gastrointestinal tract (small bowel 95% of the cases, colon and rectum 30%, stomach 25%).1 It was described by Peutz in 1921 and Jeghers in 1949. Inheritance is autosomal dominant with a pleomorphic gene.2 The genetic mutations have been detecteds on LKBI (STKII) gene on chromosome 19p13.3.3-5 Serine threonine is the tumour suppressor gene.

Mucocutanoeus pigmentation are usually seen around the mouth, lips, face, palmar and volar surface, rectal mucosa.

The polyp seen in PJS are generally hamartomatous polyps and they can cause either intestinal obstruction due to intussusception or may be the site of gastrointestinal bleed.

They may remain asymptomatic. Extraintestinal polyps are rarely found7 which may be in the respiratory system, urogenital system or in the gall bladder. Histopathology of hamartomatous polyps shows smooth muscle branching through the tip of the polyp with glandular intestinal epithelium. Peutz Jeghers Syndrome has been accepted as precancerous syndrome.8,9 Malignancy of small intestine, colon, ovaries, breast, pancreas, gall bladder and biliary tract are known to be associated with PJS. Malignant melanoma is also increasingly associated with PJS.

Ovarian cyst and tumours are found in 5-12% of patients.10 Among ovarian cysts bilateral mucinous ovarian tumours are common.11 In our case report, it is serous cystadenoma, which is a rare type of ovarian tumour to be associated with PJS.

Treatment of polyps of PJS in colonoscopic or jejunal endoscopic polypectomy. Resection of segment of intussusception along with polyp is the treatment of intussusception.Guidelines prescribed by American academy of Gastroenterologists for surveillance of Peutz Jeghers syndrome lesions and associated cancer:12

  • Repeat upper GI Endoscopy with small bowel follow through every 2 years.
  • Pancreatic ultrasound starting at the age of 30 years and then every 1-2 years.
  • Surveillance for associated ovarian and uterine pathology as follows
    1) Mammography starting at the age of 25 years then every 2-3 years.
    2) Pelvic ultrasound at age 20 yrs then every year.

References

  1. Stewart E, Wylie D. Neoplastic Colonic Lesions. In Alimentary Tract Radiology 5th Edition (ed.Freeny,PC and Stevenson,Giles) Mosby-Yearbook Inc., St.Louis 1994.
  2. Russel, Williams and Bulstrode,Bailey and Loves Textbook of Surgery, 23rd edition, Chapter 57,1046-47.
  3. Miyaki M. Peutz Jeghers Syndrome.Nippon Rinsho 2000; 58 : 1400-4.
  4. Westerman AM, Entius MM, de Baar E, et al. Peutz Jeghers Syndrome; 78 year followup of the original family. Lancet 1999; 353 : 1211-5.
  5. Choi HS, Park YJ, Park JG. Peutz Jeghers syndrome:a new understanding.J Korean Med Sci 1999; 14 : 2-7.
  6. Boardman LA,Couch FJ,Burgart LJ, et al. Genetic heterogeneity in Peutz Jeghers syndrome. Hum Mutat 2000; 16 : 23-30.
  7. Vogel T, Schumacher V, Saleh A, et al. Extraintestinal polyps in Peutz Jeghers Syndrome: presentation of four cases and review of literature.Deutsche Peutz Jeghers Studiengruppe. Int J Colorectal Dis 2000; 15 : 118-23.
  8. Giardello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz Jeghers syndrome. Gastroenterology 2000; 119 : 1447-53.
  9. Boardman LA,Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with Peutz Jeghers syndrome. Ann Intern Med 1998; 128 : 896-9.
  10. Lele SM, Sawh RN, Zaharopoulos P, et al. Malignant ovarian sex cord tumor with annular tubules in a patient with Peutz Jeghers syndrome; a case report. Mod Pathol 2000; 13 : 466-70.
  11. Wacrenier A, Boman F, Farine MO, et al. Ovarian mucinous tumour of gastric and intestinal type associated with Peutz Jeghers syndrome;in situ hybridization study of apomucin gene transcripts. Ann Pathol 1998; 18 : 497-50.
  12. McGarrity, et al. Clinical Reviews : Peutz Jeghers syndrome. Am J Gastroeneterology 2000; 95 :
    596-604.

THE POLYPILL AND CARDIOVASCULAR DISEASE

May be appropriate for secondary but perhaps not for primary prevention Lipid and blood pressure lowering and antiplatelet therapy have established their efficacy in the prevention of cardiovascular diseases. Wald and Law have proposed that these three treatments, along with folic acid, be combined into a “polypill”, targeting all adults aged over 55 (primary prevention). The underlying assumption concerning the efficacy of this strategy is that the six individual ingredients of the polypill (thiazide diuretic, angiotensin converting enzyme inhibitor b blocker, statin, aspirin, and folic acid) when combined together have synergistic treatment effects-calculated by multiplying the relative risk reductions on each class of treatment.

Recent evidence concerning the differential effect of aspirin in women compared with men is emerging. While the efficacy of aspirin in men is established, the recently completed women’s health study, of low dose aspirin (100 mg every other day) compared with placebo, did not produce a reduction in all cause mortality or fatal and non-fatal myocardial infarction. Although observational evidence favours a possible causal association between raised plasma homocysteine concentrations and cardiovascular disease, this association has been described as modest. Furthermore, a recent randomised trial of 2.5 mg/day of folic acid (the proposed polypill dosage is 0.8 mg/day) was not associated with a reduction in the combined trial end point of stroke, coronary events, and death in patients who has previously had a cerebral infarction. Caution is needed before extrapolating the benefits from observational studies to benefit from treatment with the folic acid component of the polypill.

Tom Fahey, Peter Brindle, Shah Ebrahim, BMJ, 2005; 330 : 1035-6.


*Professor and Head , **Lecturer, ***Associate Professor, ****Resident, Department of General Surgery, Grant Medical College and J.J. Group of Hospitals, Mumbai 400 008.