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Cite this article: Al Jarroudi O, Serji B, Bouhout T, Eggyr E, El Harroudi T (2017) Peutz-Jeghers Syndrome Revealed by a Jejunojejunal Intussusception: Case Report and Review of Literature. JSM Gen Surg Cases Images 2(4): 1033.

*Corresponding authorOuissam Al Jarroudi, Medical Oncologic Department, Mohammed Ist University Oujda , Hassan 2nd Hospital, medical school, Mohammed Ist university Oujda, Morocco, Email:

Submitted: 10 April 2017

Accepted: 26 July 2017

Published: 28 July 2017

Copyright© 2017 Al Jarroudi et al.

ISSN: 2573-1564

OPEN ACCESS

Keywords•Jejuno-jejunale intussusception•Peutz-jeghers syndrome•Hamartomatous polyps•Malignant tumours

Case Report

Peutz-Jeghers Syndrome Revealed by a Jejunojejunal Intussusception: Case Report and Review of LiteratureOuissam Al Jarroudi1*, Badr Serji2, Tarik Bouhout2, Ebo Eggyr2, and Tijani El Harroudi2

1Medical Oncologic Department, Mohammed Ist University Oujda, Morocco2Surgical Oncologic Department, Mohammed Ist University Oujda, Morocco

Abstract

Introduction: Intestinal Intussesception is defined as telescoping of one segment of bowel into another one. It results of unequal motility between adjacent segments of the intestine. This autosomal dominant disease, also known as hereditary intestinal polyposis syndrome, is a rare cause of intussusceptions.

Case presentation: We report a case of 42 years old African female patient, who presented a jejuno-jejunale intussusception due to Peutz-Jeghers syndrome.

Conclusion: Patients with Peutz-Jeghers syndrome have an increased risk for gastrointestinal and non-gastrointestinal cancer. Consequently, Early detection and proper surveillance are needed to minimize the risk of carcinoma.

INTRODUCTIONIntestinal Intussesception is defined as telescoping of one

segment of bowel into another one. Uncommon in children, and rare in adult [1] with reported incidence of 1 in 1300 abdominal cases presenting an obstruction [2].

It occurs as a result of unequal motility between adjacent segments of the intestine. The proximal segment is referred to as the intussusceptum, and the distal segment is referred to as the intussusceptions.

Many classifications have been described but the most frequently used is based on the part of the bowel involved, which can include the gastric antrum (65-75%), the ileo-colon and colon (3-8%), small bowel (17-21%), duodenum (1%), esophagus (1%), gallbladder (1%) and jejunogastric regions [3,4]. We report a case of 42 years old female patient, who presented a jejuno-jejunale intussusception due to Peutz-Jeghers syndrome.

CASE PRESENTATIONA 42 years old African female, without personal or familial

medical history, was admitted with intermittent abdominal pain located in the peri umbilical region. The patient had complained of asthenia and weight loss. There were no vomiting, abdominal distension or gastro intestinal bleeding. Physical examination revealed an abdominal mass extended from the left flank to the

right iliac fossa, with no associated peripheral lymphadenopathy.

Abdominal CT scan showed jejunojejunale intussusception, spanned on 220 mm starting from the proximal jejunal part, with regular digestive thickening measuring 18 mm (figure 1), probably referring to lymphomas.

Laboratory investigations revealed microcytic hypochromic anemia: 9,3 g/dL. The rate of white blood cells was normal. Tumor markers were normals.

The patient underwent an exploratory laparotomy. There were no ascitis or carcinomatosis and no hepatic metastasis. Ovaries and uterus’s exploration had no obvious abnormalities. The intussusception was spontaneously resolved, and we found at the first loop an intraluminal mobile mass. We decided to realize an enterotomy that allows us to found three adjacent large polyps at the first jejunal loop with no marcroscopic aspect of malignancy (figure 2). There were no mesenteric lymphadenopathies. We performed only a polypectomy. Post-operative course was uneventful. Histopathology examination revealed 3 hamartomatous polyps, the diagnosis of Peutz-Jeghers syndrome was confirmed. Patient is always monitored without incidents.

DISCUSSIONPeutz-Jeghers syndrome (PJS), as found in our patient, is a

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rare cause of intussusception. This autosomal dominant disease is also known as hereditary intestinal polyposis syndrome. It is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with mucocutaneous pigmentation [5]. It has an estimated incidence of one out of every 50,000-200,000 births [6]. PJS appears equally in males and females, without any ethnic predominance. [7]

Polyps found in PJS syndrome are commonly present in adolescence and early adulthood [8]. One third of the affected individuals experiences symptoms during the first 10 years of life [9]. The median time of first presentation with polyps is between 11-13 years. At 20 years, approximately 50% of individuals have experienced symptoms [10]. The most frequent clinical onsets of PJS are bowel obstruction (43%), followed by abdominal pain of ischemic origin (23%), rectal bleeding (14%), or polyp extrusion through the rectum (7%) [6]. Up to 69% of the patients can present intussusception symptoms produced by polyps larger than 15 mm, and thus the resection of polyps of those sizes could avoid such events [11]. The onset of symptoms in our patient was a little late, around the age of 41 years, but this syndrome has been revealed by one of its major complications: intestinal intussusception.

Polyps in PJS can develop anywhere within the gastrointestinal tract. The most frequent locations, in order of prevalence, according to Utsunomiya studies, are: [12]

• Small intestine - 64% of patients

• Colon - 63.2% of patients

• Stomach - 48.6% of patients

• Rectum - 32% of patients

The incidence of polyps within the small intestine is greatest in the jejunum and decreases in the ileum and duodenum. In our patient, the three polyps were located in the jejunum [13].

Extraintestinal polyps are also reported, although they are rare; they include nasal polyps [14], gall bladder polyps [15], ureteric polyps [16], and respiratory tract polyps [17]. There were no extra intestinal polyps on the CT of our patient.

The cutaneous lesions appear in 95% of the patients and consist of dark brown-black pigmented macules that are most frequently located in the perioral region (94%), on the hands (74%), and in the buccal mucosa (66%) [18], unlike the case of our patient, in who skin lesions were absent.

Video capsule endoscopy, double balloon pushed enteroscopy, multidetector computed tomography and magnetic resonance enteroclysis or enterography, all of which are relatively new techniques, have an important role in the management of patients suffering from PJS. MR and MDCT using either enterography or enteroclysis allow for the detection of the majority of polyps in PJS patients. [7]

PJS diagnosis is based on the presence of some of these criteria [19]:

• If there is no family history of PJS:

- Two or more hamartomatous polyps histologically confirmed, or

- Any number of hamartomatous polyps with the

Figure 1 Abdominal CT showing jejuno-jejunale intussusception.

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characteristic mucocutaneous pigmentation

• If there is a family history of PJS, any number of hamartomatous polyps or mucocutaneous pigmentation.

In our patient, the diagnosis was made on the presence of three hamartomatous polyps histologically confirmed.

There is no consensus on how to treat polyps. In non-complicated patients and considering the low rate of dysplasia detected in hamartomas, the endoscopic polypectomy is now a safe procedure for resection and surveillance [20]. Surgery can be proposed in case of intussusception or obstruction. It is now well acknowledged that polyp size is the most important risk factor and that intussusception is generally due to polyps ≥ 15 mm in diameter [21]. Consequently, large polyps (10-15 mm) or symptomatic or rapidly growing polyps should be removed [22]. In our case the three resected polyp measured respectively 7, 5.5 and 4 cm.

Combined endoscopic and surgical treatment which can be performed during laparotomy [23-24] achieves a clean intestine and allows longer asymptomatic periods [23]. Combine treatment is particularly important for those patients who will undergo repeated surgical interventions due to clinical manifestations while they are still young [25]. This combined

treatment can avert multiple enterotomies and decrease bowel resection segments [26,27]. In our case, we performed a surgical polypectomy because of the very proximal location of the polyps at the first loop, inaccessible to endoscopy in our local conditions, in addition to the risk of leakage in this area (near to the angle of Treitz) if resection was performed.

Peutz jeghers syndrome is a rare inherited condition linked to a mutation of the STK11 (LKB1), which is a tumor suppressor gene. Consequently, patients with PJS demonstrate a high risk for gastrointestinal cancers (small bowel and colon, pancreatic, and stomach) and cancers of other organs, such as the ovaries, testes, uterine cervix, and breast. In addition, benign ovarian tumors may occur in female PJS patients [28] (Table 1).

The hamartomatous polyps usually are considered to be of low malignant potential, but many reports have documented adenomatous and carcinomatous changes arising from these hamartomas. PJS patients have an increased risk for gastrointestinal and non-gastrointestinal cancer. A meta-analysis has found that the cumulative risk of developing cancer in PJS patients aged between 15 and 64 years, ranges between 37% and 93% [6] Malignancy most commonly occurs within the small-bowel, with a median age at diagnosis of 41 years [29]. The risk of colorectal cancer is 3%, 5%, 15% and 39% at the ages of 40, 50, 60 and 70 respectively. Upper gastrointestinal cancers are less common, the average age for stomach cancer diagnosis is 30 [6].

The surveillance of these patients should be directed at the risk for intussusception and cancer, but no screening protocols have been validated in clinical trial. The guidelines in Beggs’ recent article, produced by a group of European experts, established some recommendations that include not only the endoscopic surveillance of gastrointestinal polyps, but also screening for extraintestinal neoplasias such as breast or testicular cancers. It suggests baseline surveillance with esophagogastroduodenoscopy at the age of 8, colonoscopy every 1-2 years after the age of 50, and VCE at 8-10 years of age and then every two to three subsequent years or earlier if any abdominal symptoms are present [29].

For extra-intestinal malignancies, they recommend a monthly breast self-examination starting at the age of 18 years and a semiannual clinical breast examination and annual mammography or MRI starting at the age of 25 years. They suggest that annual MRI/ultrasound surveillance should started at age 25-30 years, substituted with mammography after the age of 50. Routine surveillance for pancreatic cancer has not been proven to be beneficial, but MRI or ultrasonography beginning at the age of 30 years has been proposed [6]. Beggs also recommends a regular screening consisting of 2-3 yearly cervical smears using liquid based cytology from age 25. They also recommend an annual transvaginal ultrasound and CA-125 screening for ovarian cancer beginning at age 25, annual testicular examination by testicular ultrasound is recommended in patients where abnormality is detected [29] (Table 2).

CONCLUSIONPeutz Jeghers syndrome is associated with significant

morbidity, variable clinical course and considerable predisposition to gastrointestinal and non-gastrointestinal

Figure 1 Per operative view of the polyps.

Table 1: Risk Ratio Compared to the General Population, Lifetime Frequency, Mean Age, and Age Range of Malignancies Related to Peutz-Jeghers Syndrome.

Organ Risk Ratio Frequency, % Mean Age (Range), Years

Esophagus 57 0.5 67

Stomach 213 29 30.1 (10-61)

Small Intestine 520 13 41.7 (21-84)

Colon 84 39 45.8 (27-71)

Pancreas 132 36 40.8 (16-60)

Lung 17 15

Testis 4.5 9 806

Breast 15.2 54 37 (9-48)

Uterus 16 9

Ovary 27 21 28 (4-57)

Cervix 1.5 10 34.3 (23.54)

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malignancies [6]. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyps resolution, but also regular lifelong cancer screening. Early detection and proper surveillance are vital to minimize the risk of carcinoma.

AUTHORS’ CONTRIBUTIONS Al jarroudi took part in the care of the patient and wrote the

article. Badr Serji participated in the care of the patient and in the article’s drafting and revision. Tariq Bouhout and Ebbo Usman Eggyr took care of the patient. Tijani El harroudi contributed in the diagnosis, care of the patient and in the article’s revision. All authors read and approved the final manuscript.

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Table 2: Peutz-Jeghers syndrome: cancer risk and surveillance NCCN guidelines 2013.

Site % Lifetime Risk Screening Procedure and Interval Initiation Age (Y)

Breast 45%-50% • Mammogram and breast MRI annually• Clinical breast exam every 6 mo ~ 25 y

Colon 39% • Colonoscopy every 2-3 y ~ Late teens

Stomach 29% • Upper endoscopy every 2-3 y ~ Late teens

Pancreas 11%-36% • Magnetic resonance cholangiopancreatography and/or endoscopic ultrasound every 1-2 years ~ 25-30 y

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Testes • Annual testicular exam and observation for feminizing changes ~ 10 y

Lung 15%-17%• Provide education about symptoms and smoking

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Al Jarroudi O, Serji B, Bouhout T, Eggyr E, El Harroudi T (2017) Peutz-Jeghers Syndrome Revealed by a Jejunojejunal Intussusception: Case Report and Review of Literature. JSM Gen Surg Cases Images 2(4): 1033.

Cite this article

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