A 7-months-old girl consulted for recurrent rectal prolapse (Figure 1) associated with episodes of bloody stools. She underwent esophagogastroduodenoscopy and colonoscopy with significant findings of 6 duodenal polyps and more than 50 polyps in the colon (Figure 2). Histopathology revealed juveniles polyps in all cases, without adenomatous transformation. Genetic testing and array bases comparative genomic hybridization demonstrated a de novo deletion at 10q23.21q23.31, encompassing the PTEN and BMPR1A genes.
Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juveniles polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis [1,2]. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50-60% of JPS [3,4]. These infants suffer from diarrhoea, haemorrhage, malnutrition and intussusception. Death usually occurs at an early age [5]. Management is mainly based on expert opinion. Prophylactic surgery is considered in patients with >50-100 polyps, severe gastrointestinal bleeding or diarrhoea, juvenile polyps with dysplasia or a strong family history of colorectal cancer. [1,2,5].
In our case, it is interesting the unusual presentation of the syndrome, with the combination of rectal prolapse and bloody stools in an infant. As far as we know, it has not been reported so far.