==== Front Ann Saudi MedAnn Saudi MedAnnals of Saudi Medicine0256-49470975-4466King Faisal Specialist Hospital and Research Centre 10.5144/0256-4947.2006.330asm-4-330What's Your Diagnosis?Diagnosis: Peutz-Jeghers syndrome with jejunal and colonic intussusception Mohamed Ayadi Kamel Mariem Amouri Khaireddine ben Mahfoudh Sana Mezghani Ahmed Ahmedullah Mnif Jameledine Jul-Aug 2006 26 4 330 332 Copyright © 2006, Annals of Saudi Medicine2006This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. ==== Body The abdominal ultrasound scan showed dilated bowel loops in the left upper abdominal quadrant with a round-shaped hypoechoic mass in the colic lumen (Figure 1) causing incomplete intussusception. The colonoscopic examination performed two days after confirmed the presence of multiple pedunculated polyps in the descending colon (Figure 2). A complementary barium meal and follow-through examination disclosed numerous polyps dissiminated throughout the stomach and small bowel loops (Figures 3 and 4) and showed an authenthic intussusception at the distal jejunal loop with a typical coiled spring appearance related to a large polypoid mass. Histologic examination of a resected gastric polyp showed features highly suggestive of Peutz-Jeghers syndrome. Discussion Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder,1 first described by Peutz in 1921 and Jeghers in 1944.2 Mucocutaneous pigmentation and diffuse gastrointestinal hamartomas are the hallmark features of this disease.3 PJS is rare, 10 times less frequent than adenomatous polyposis, according to data in United States registries.1 It occurs with equal frequency in female and male subjects with variable penetrance.2 The chromosomal abnormality associated with this syndrome is still unknown.2 Mucocutaneous pigmentation is manifested by melanotic deposits around the nose, lips, buccal mucosa, and hands and feet. Occasionally, there is pigmentation in the genital and perianal region.2 Gastrointestinal hamartomatous polyps occur in 88% to 100% of patients with PJS. They are most commonly present in the small intestine (64% to 94%) but occur also in the stomach (24% to 49%) and in the colon (60%). Polyps may vary in size from 0.1 to 5 cm in diameter and have a coarse and lobulated surface.1 Larger polyps are pedunculated, whereas smaller ones are sessile. Most patients with PJS present symptoms arising from larger polyps. These polyps tend to infarction, ulceration and bleeding, and may cause intestinal obstruction and intussusception.1 Abdominal pain caused by intussusception or intestinal blockage is typically colicky and intermittent and tends to occur after arising in the morning.2 Ulceration of polyps may cause acute bleeding or chronic blood loss, which can result in a microcytic hypochromic anemia.2 Intussusceptions usually reduce spontaneously, but persistent intussusception can result in a small bowel obstruction requiring surgical intervention.2 Patients typically do not become symptomatic until the second or third decade of life.1 Histologic findings showed that the hamartomatous polyp had mucosa with a cell population normally found in the involved organ. In approximately 10% of large polyps, there is displacement of epithelial elements beneath the mucosa and smooth muscle, producing a pseudo-invasion pattern.1,2 Diagnosis of PJS is based on detection of typical melanin spots, and evaluation of the gastrointestinal tract for presence of polyps. Upper and lower endoscopy is the diagnostic tool of choice, allowing direct visualization, localization and eventually resection of the gastric or colonic polyps. However, checking the small bowel for the presence of polyps still requires radiologic procedures, mainly enteroclysis. Double contrast barium meal and barium enema studies show polyps of variable size that may diffusely carpet the intestinal mucosa. Smaller polyps were sessile with a round surface, and larger polyps were pedunculated and have lobulated contours.4 In the antrum, the larger pedunculated polyps may prolapse into the duodenum when the patient is rolled onto his right side. Enteroclysis allows for a thorough analysis of the jejunum and ileal loops.4 Abdominal US, as illustrated in our case, may detect the polyp in the gastrointestinal lumen, especially the large and complicated lesions. In an emergency, US examination may show during the episode of intussusception, the polyp appearing as a hypoechoic round-shaped lesion inside the lumen of the intussuscepted bowel loop. CT scan may show the target sign, a pathognomonic finding of intussusception and bowel dilation above the intussusception site. The hamartomatous polyp is the lead point of the intussusception5 and may be demonstrated as a low attenuation mass. MRI examination using breath hold T1-weighed sequences both standard and with fat suppression prior to and following gadolinium administration showed that polypoid lesions exhibited a signal intensity comparable to bowel during noncontrast and after an early and late gadolinium-enhanced study. Appreciation of polyp enhancement should help distinguish polyps from bowel contents.6 A hamartomatous polyp is considered a disturbance of tissue, not a malignancy. However, previous reports have shown that adenomatous and carcinomatous changes may occur in hamartomas. A hamartoma-adenoma carcinoma sequence has been suggested in the pathogenesis of gastrointestinal cancer in PJS.1 From 2% to 13% of patients with PJS have been reported to develop cancer in the stomach, in the small bowel or within the colon. The most common sites of cancer are the stomach and the duodenum. In addition, associations have been reported with bilateral breast cancer, ovarian and sex cord tumors, adenoma malignum and feminising sertoli cell testicular tumors in prepubertal boys.1 Laparotomy and intra-operative endoscopy should be performed for polyps greater than 15 mm in diameter and for unexplained abdominal pain in the presence of polyps.4 Removal of polyps greater than 5 mm found during endoscopy has also been recommended.4 A careful surveillance is recommended, because of the risk of malignancy. Figure 1 Abdominal ultrasound scan, transverse cut showing a dilated colonic loop with typical target sign and a polypoid lesion in the lumen. Figure 2 Endoscopic view of the descending colon illustrating a pedunculated large polyp. Figures 3 and 4 Barium meal and follow-through examination showing numerous polyps disseminated throughout the stomach and small bowel loops, with a large intussusception in the proximal jejunal loop. ==== Refs References 1 De Facq Leentje De Sutter Johan De Man Marc A case of peutz jeghers syndrome with nasal polyposis, extreme iron deficiency, anemia, and hamartoma-adenoma. Transformation: management by combined surgical and endoscopic approach The American Journal of Gastroenterology 1995 90 8 1330 1332 7639241 2 Cho Gina J Bergquist Kaaren Schwartz Arnold M Peutz jeghers syndrome and the hamartomatous polyposis syndromes: Radiologic-Pathologic correlation Radiographics 1997 17 785 791 9153713 3 McGarrity Thomas J Kulin Howard E Zaino Richard J Peutz-jeghers syndrome The American Journal of Gastroenterology 2000 95 3 596 605 10710046 4 Covarrubias DJ Huprich JE Best cases from the AFIP: Juvenile polyposis of the stomach Radiographics 2002 22 415 420 11896230 5 Marschall Jeff Hayes Paul Intussusceptions in a man with peutz-jeghers syndrome CMAJ 2003 168 3 315 316 12566339 6 Semelka RC Marcos HB Polyposis syndromes of the gastrointestinal tract: MR findings J Magn Reson Imagin 2000 11 1 51 55