Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy

Lisa Dillon Bell, John A. Bernat, Riad Rahhal


In the following clinical case of infantile juvenile polyposis syndrome (JPS), administration of a pharmacologic agent sirolimus was associated with reduced disease burden without need for bowel resection. The positive impact included improvement in protein-losing enteropathy, decreased intestinal blood loss, and improved weight gain. In addition, the number of polyps resected per unit time and frequency of upper and lower endoscopic evaluation needed dropped after initiation of sirolimus. This case report describes a positive clinical outcome and discusses the use of sirolimus with aggressive polypectomy as a potential treatment for the rare disease entity of polygenic infantile JPS. Through this case, we aim to emphasize that while administration of this drug may mitigate many sequelae of infantile JPS, it does not appear to eliminate the need for aggressive polypectomy.

Gastroenterol Res. 2022;15(1):33-38
doi: https://doi.org/10.14740/gr1480


JPS; PTEN; BMPR1A; Hamartoma; PLE; mTOR; Rapamycin

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