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



rectal bleeding, Infantile Juvenile Polyposis Syndrome, Protein Lossing Enteropaty


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 JPS. In our patient, there were extraintestinal system manifestations such as macrocephaly, congenital heart disease and clubbing, accompanied with protein-losing enteropathy. Awareness of these clinical findings is necessary for the differential diagnosis of protein-losing enteropathy and polyposis syndrome. We would also like to draw attention to the importance of a multidisciplinary approach, early recognition of the syndrome and appropriate referral of the patient.


Download data is not yet available.


Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004;41(7):484–91.

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223-62.

Sachatello CR, Griffen WO Jr. Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am J Surg. 1975;129:198–03.

Dahdaleh FS1, Carr JC, Calva D, Howe JR. Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23. Clin Genet. 2012;81(2):110–6.

Schreibman IR1, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J. Gastroenterol. 2005;100:476-90.

Stojcev Z, Borun P, Hermann J, Krokowicz P, Cichy W, Kubaszewski L, et al. Hamartomatous polyposis syndromes. Hereditary Cancer in Clinical Practice. 2013 Jun 1;11(1):4.

Calva CD, Chinnathambi S, Pechman B, Bair J, Larsen HJ, Howe JR. The rate of germline mutation and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009;75:79-85.

Joy LH, James RH. Juvenile Polyposis Syndrome. Gene Reviews. 2003 May 13;1-19.

Peker A, Yarkıcı H, Akar H. Gastrointestinal bleeding secondary to use of high-dose methotrexate: A case report. J Surg Med. 2018;2(2):151-3.

Attard TM, Young RJ. Diagnosis and management of gastrointestinal polyps: pediatric considerations. Gastroenterol Nurs. 2006 Jan-Feb;29(1):16-22;quiz 23-4.

Cohen S, Hyer W, Mas E, Auth M, Attard TM, Spalinger J, et al. Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):453-62.






Case Report

How to Cite

Gülcü D, Beser F, Kepil N, Erdamar S, Cullu F, Erkan T, Kutlu T. Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy. J Surg Med [Internet]. 2020 Oct. 1 [cited 2024 Apr. 14];4(10):906-8. Available from: