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Key Points


  1. Presence of colorectal adenomas in children mandates evaluation for familial polyposis syndromes.

  2. The first presenting symptoms of polyposis syndromes are often secondary to extraintestinal manifestations and unrelated to gastrointestinal polyps.

  3. Polyposis syndrome treatment involves a number of surgical options which allow patients to maintain satisfactory lifestyles.

  4. Despite a number of surgical options, including total colectomy, cancer risks remain, and lifetime surveillance is mandatory.

  5. With improved survival, surveillance for extraintestinal manifestations is critical.

  6. Small intestinal malignancies are rare, but diagnosis in the pediatric population is often delayed secondary to low suspicion.

  7. Colorectal cancer in the pediatric population is extremely rare, but children with polyposis syndromes are at an extremely high risk of eventually developing colorectal cancer.


Juvenile Polyps


The most common polypoid intestinal lesion in the pediatric population is a colorectal polyp, an intraluminal protrusion of the intestinal epithelium and submucosa. The entity of a juvenile polyp refers to the type of polyp, rather than the age at the onset of the disease, and is synonymously termed a hamartomatous, inflammatory, or retention polyp. The incidence of juvenile polyps is estimated at 1% in children, and a vast majority is not associated with familial syndromes. While solitary juvenile polyps have traditionally not been considered premalignant, evidence of adenomatous changes suggests otherwise. Careful investigation is required to differentiate sporadic polyps from those linked to familial syndromes in order to guide the treatment and cancer prevention strategy.


Isolated Juvenile Polyps


Juvenile polyps typically present in the first decade of life, but are rarely identified prior to 2 years of age. The most frequent presenting symptom is lower intestinal bleeding, followed by intermittent abdominal pain. Occasionally, polyps can move by intestinal peristalsis to produce an intussusception of the bowel. Up to one third of patients with juvenile polyps present with anemia secondary to chronic blood loss, even in cases of a solitary polyp.


The diagnostic methods of intestinal polyps largely depend on their suspected location. Distal colonic polyps that manifest with hematochezia prompt a rectal examination and lower endoscopic investigation, which can be both diagnostic and therapeutic. Although a complete colonoscopy may be viewed as a particularly invasive procedure in children, the need to examine the proximal colon necessitates such a thorough investigation. Recent studies advocated the use of colonoscopy, as 8% to 40% of patients were found to harbor proximal colon polyps. The location and number of polyps discovered on endoscopy may indicate risk of familial polyposis syndromes and the need for a more extensive evaluation. Juvenile polyps are not always isolated (typically 1-3 polyps), ranging from 0.5 to 5 cm. Finding more than 3 to 5 lesions may suggest the diagnosis of juvenile polyposis syndrome (JPS) and requires further work-up, including upper endoscopy. Microscopically, juvenile polyps are hamartomas, but often contain inflammatory and cystic features secondary to ...

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