|Year : 2019 | Volume
| Issue : 1 | Page : 252-254
Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome
Sundeep Kumar1, Preeti Arora2, Pabitra Goswami1
1 Department of General Surgery, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Obstetrics and Gynaecology, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
|Date of Web Publication||13-Mar-2019|
Dr. Sundeep Kumar
Flat No. 9, Block- C2, Krishnabaag Apartment, Nagwa, Lanka, Varanasi - 221 005, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Peutz–Jeghers syndrome is a rare hamartomatous polyposis syndrome characterized by the presence of intestinal polyps and mucocutaneous melanotic pigmentations. It is associated with various gastrointestinal and extraintestinal malignancies. This case report deals with the clinical presentation, investigations, operative findings, and outcome of a patient harboring this disease. A 45-year-old female presented to us with intermittent colicky abdominal pain for the last 6 months and a single episode of melena 1 month back. She had a previous history of resection of a jejunal growth 22 years back. The histopathology report was suggestive of papillary adenocarcinoma. On examination, hyperpigmented macules were seen on her lips and buccal mucosa. Laparotomy revealed multiple polyps mainly in the proximal small intestine and a focus of ileoileal intussusception. A limited resection was done.
Keywords: Intestinal hamartomatous polyps, mucocutaneous hyperpigmented macules, Peutz–Jeghers syndrome, small intestinal adenocarcinoma
|How to cite this article:|
Kumar S, Arora P, Goswami P. Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome. J Can Res Ther 2019;15:252-4
| > Introduction|| |
Hamartomas result from a disorder of differentiation during embryonic development leading to disorganized overgrowth of mature and specialized tissue indigenous to its normal site. Peutz–Jeghers syndrome (PJS) is the second most common hamartomatous polyposis after juvenile polyposis syndrome. This case report aims toward depicting the importance of history taking, record-keeping of previous treatment, meticulous clinical examination in reaching a diagnosis for this entity, and providing appropriate surgical management to these patients in case of complications.
| > Patient and Methods|| |
A 45-year-old female presented with intermittent episodes of colicky abdominal pain with associated bilious vomiting for the last 6 months and a single episode of black, tarry stool 1 month before admission. She was operated for a malignant growth of jejunum 22 years back in a tertiary care hospital, the histopathology report suggesting an adenocarcinoma with transmural infiltration. A history of a similar illness was lacking in her family.
On general survey, she had an average built with pallor. Examination of gastrointestinal system revealed hyperpigmented spots over the lips [Figure 1] and buccal mucosa [Figure 2]. On palpation, abdomen was distended and nontender. Per vaginal and digital rectal examination revealed no abnormality.
|Figure 2: Hyperpigmented macule over the left buccal mucosa in the patient|
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Blood investigation revealed a hemoglobin level of 8 g/dl. Stool occult blood test was negative for microscopic evidence of bleeding. Abdominal ultrasound and contrast-enhanced computed tomography abdomen suggested intestinal obstruction due to intussusception. After informed consent, laparotomy was done. Palpable polyps of variable sizes were seen in the entire jejunum and ileum, with no polyp in stomach and duodenum. A small polyp was present in the transverse colon. An intussusception caused by a polyp, around 50 cm from the duodenojejunal flexure, was found which was reduced and resected [Figure 2]. Enterotomy, polyp removal, and primary closure were done for two other large ileal polyps [Figure 3] and [Figure 4]. Many small innocuous polyps were left undisturbed.
| > Results|| |
The patient had an uneventful recovery following surgery. Histopathological report suggested the polyps to be hamartomatous in nature. A rare combination of oral mucosal hyperpigmented melanin spots and hamartomatous polyps predominantly in the jejunum, in a patient presenting with intestinal obstruction due to intussusception, with a history of segmental resection for jejunal adenocarcinoma led to the clinical diagnosis of PJS. Upper gastrointestinal endoscopy and mammogram revealed no abnormality. Gynecological reference done for cervical smear study showed no neoplastic change. She was recommended to undergo genetic testing for germline mutation of this syndrome. The patient was symptom free at 3- and 6-month follow-up. She was advised to undergo upper gastrointestinal (GI) endoscopy and colonoscopy biennially. An annual pancreatobiliary and pelvic ultrasonography and yearly mammography were recommended along with an annual gynecological evaluation.
| > Discussion|| |
It is a rare autosomal dominant syndrome whose diagnosis can be made in patients harboring hamartomatous intestinal polyp(s) with at least two of the following clinical criteria: labial melanin deposits, a family history of the syndrome, and small bowel polyposis. The incidence of PJS ranges from 1/50,000 to 1/200,000 live births. Germline mutation of the tumor-suppressor serine-threonine kinase gene LKB1/STK11 on chromosome 19 is implicated with this pathology. The pigmented mucocutaneous macules in this syndrome appear in the first few years of life, attain prominence during adolescence, and then may gradually fade away except for the buccal mucosal melanin spots which persist throughout life. These macules are dark brown, 1–5 mm in size, and located on the vermilion border of the lips (94% of patients), the buccal mucosa (66%), hands (74%), and feet (62%). Polyposis appears by the end of the 2nd decade of life occurring most commonly in the jejunum followed by colon and stomach. The polyps usually number between 1 and 20 per se gment of the intestinal tract and vary in size from 0.1 to 5 cm in diameter.
The risks associated with this syndrome include a strong tendency of developing cancer at multiple sites. There is 2%–10% increased risk for GI malignancies, anywhere from stomach to rectum. Increased risk for extraintestinal cancer of the pancreas, gallbladder, common bile duct, breast, and thyroid is seen. There is an additional risk of gynecological malignancy of the ovary (bilateral sex cord tumor with annular tubules) and well-differentiated adenocarcinoma of the cervix known as adenoma malignum. Differential diagnosis of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer can be made by use of colonoscopy and modified Amsterdam criteria, respectively.
| > Conclusions|| |
This case report underlines the importance of a detailed history taking, previous treatment record evaluation, and careful lookout for characteristic mucocutaneous hyperpigmented spots in patient presenting with intermittent intestinal obstruction in clinching the diagnosis of PJS. Histopathological finding of hamartomatous polyps of intestine further substantiates the diagnosis. The treatment is directed at dealing with the complications of obstruction and persistent bleeding in the form of a limited resection. Considering the diffuse involvement of the gut, extensive resections aimed at cure are not fruitful. Since these patients carry risk for development of malignancy at various sites, regular follow-up is done to screen and detect these tumors at an early stage.
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.
The authors acknowledge for the general support by the Departments of General Surgery and Obstetrics and Gynaecology of R.G. Kar Medical College and Hospital, Kolkata, West Bengal, where the work has been done.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]