Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy

Beşer Ö. F., Kepil N., Erdamar Çetin A. S., Çokuğraş A. F.

Journal of Surgery and Medicine , vol.4, no.10, pp.906-908, 2020 (Peer-Reviewed Journal)

  • Publication Type: Article / Case Report
  • Volume: 4 Issue: 10
  • Publication Date: 2020
  • Journal Name: Journal of Surgery and Medicine
  • Journal Indexes: Other Indexes
  • Page Numbers: pp.906-908
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes


Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant hereditary syndrome affecting 1: 100000-160000 individuals. JPS most presents with rectal bleeding, anemia, abdominal pain, obstruction and rarely with rectal prolapsus of the polyp. In this case, we diagnosed Infantile Juvenile Polyposis Syndrome due to protein losing enteropathy, rectal bleeding and extraintestinal manifestations of the syndrome. A 2-year-old male infant was referred to the hospital due to complaints of painless rectal bleeding and rectal prolapsus of the polyp which occurred at 15 months of age. Pathological examination revealed that it was a juvenile polyp. After a short while, the patient was hospitalized due to rectal bleeding, paleness, swelling in both legs and periorbital edema. Physical examination of the patient revealed+ 3 pretibial, scrotal, periorbital edema, clubbing and pale appearance. The patient had macrocephaly, hypotonicity and neuromotor retardation. Laboratory test results revealed low immunoglobulin levels, hypoalbuminemia, anemia, and electrolyte imbalance. We diagnosed the case with JPS due to protein losing enteropathy with extraintestinal manifestations of the syndrome. Gastroscopic and colonoscopic examinations revealed multiple polyps through the antrum and colon. JPS diagnosis is based on the detection of polyps which are histopathologically defined as juvenile polyps. One of the most common causes of painless, rectal bleeding in children are colorectal polyps. We wanted to emphasize that the sporadic juvenile polyp diagnosis should be made by pathological examination of polypectomy material and clinical exclusion of …