Peutz-Jeghers syndrome: need for early screening.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer-predisposing condition characterised by intestinal hamartomatous polyps and distinct melanin depositions in skin and mucosa. Small intestinal cancer in patients with PJS usually presents by the third decade. A 7-year-old-PJS boy presented with recurrent episodes of colicky abdominal pain and melena requiring repeated blood transfusions. Abdominal CT scan revealed multiple jejunal polyps with jejunoileal intussusception. On exploration, the intussuscepted bowel was resected along with its mesentery and anastomosed. Simultaneously, multiple enterotomies with resection of palpable polyps were performed. The resected bowel showed well-differentiated stage 2A adenocarcinoma with clear resected margins. Postoperatively, the complaints were relieved. On follow-up, he was asymptomatic and is now on yearly cancer surveillance. This is probably the youngest reported case of small bowel cancer in PJS.

Café au lait macules and juvénile polyps.

Several hereditary and nonhereditary gastrointestinal tract polyposis syndromes exhibit extra-intestinal manifestations, including cutaneous findings. However, a lack of information exists regarding cutaneous features of juvenile polyposis. Our objective was to document the prevalence of cutaneous hyperpigmented lesions in children with juvenile polyposis coli or juvenile polyposis coli and their first degree relatives.Children seen in the gastroenterology practice at The Children's Hospital in Denver, Colorado with polyps (juvenile polyposis coli, sporadic juvenile polyps, and familial adenomatous polyposis coli) and their first degree relatives were invited to participate in the study. A comprehensive skin examination was performed on those who consented to participate. We found that 8 of 14 patients (eight with juvenile polyposis coli, four with juvenile polyposis, and two with familial adenomatous polyposis coli) had at least one café-au-lait macule, compared with three of 27 relatives (p=0.003).The prevalence of at least one café-au-lait macule in our patients (8/14 or 57.1%, CI: 28.9­82.3%) was significantly higher than the general population prevalence of 28.5% (p=0.023). However, if the two patients with familial adenomatous polyposis coli were excluded, the comparison with the general population prevalence did not reach statistical significance (p=0.095). The prevalence of multiple cafe´-au-lait macules in our patients (4/14 or 28.6%; CI:8.4­58.1%) was significantly higher than the general population prevalence of 5.2% (p » 0.005). A notable finding was the presence of multiple café -au-lait macules in 4 of 12 juvenile polyposis coli/juvenile polyposis patients.Two patients with juvenile polyposis coli also had lentigines. In this selected case series, we observed single or multiple café-au-lait macules in a high proportion of children with the three types of polyps. Further studies are needed to assess a possible common pathway for hamartomatous polypsand café-au-lait macules.

Multiple ileal polyps associated with gastrointestinal perforation in a 2-day-old neonate.

We experienced a very rare case of a gastrointestinal perforation due to multiple ileal polyps. The patient was a 2-day-old boy who weighed 1,430 g at birth. At neonatal day 2 subdiaphragmatic free air was noted and an emergency operation was performed. During surgery a distended ileum approximately 5 cm in size was found approximately 40 cm distal from the ileocecum, and a perforation was discovered in the distended portion of the intestine. Approximately 8 cm of the ileum was resected, including the distended portion of the intestine, and an ileostomy was performed. Examination of the resected specimen revealed three pedunculated polyps with a perforation proximal to the polyps.

[Unusual cause of intestinal invagination: congenital polypoid-form gastric heterotopia. Study of a case and review of the literature]. / Une cause inhabituelle d'invagination intestinale: l'hétérotopie gastrique congénitale à forme polypoïde. Etude d'un cas et revue de la littérature.

The authors report a case of polypoid heterotopic gastric mucosa in the ileum presenting as intussusception with hypochromic anemia in a 6 year-old boy. Tumorous heterotopic gastric mucosa in the small bowel is very uncommon. So far 22 similar cases have been published in the literature. This congenital intestinal anomaly is discovered in one third of the cases during the first decade. In 9 of 23 cases gastric heterotopia was diagnosed after an ileal resection for intussusception induced by the heterotopia presenting as a pedunculated or sessile polyp. In our case the great number of the polypoid formations is exceptional and has not been previously described.

A Neonatal Intussusception induced by Congenital Ileal Polyp in a two-day-old male newborn

Intussusception is an interesting condition and is one of the most common causes of intestinal obstruction in the infant. We experienced a case of neonatal intussusception in a two-day-old male. The patient developed bloody stool, without a history of vomiting-after passing meconium, on the second day of life. Diagnosis of ileo-cecal type intussusception, which was induced by congenital polyp, was confirmed by exploratory laparatomy performed on the 4th day of life. The polyp was found at the proximal portion of the ileum, 45 cm from the ileo-cecal valve. In Korea a 40 day old patient was the youngest previously reported. We have presented this case with a review of the literature.