Gastroenterology Research, ISSN 1918-2805 print, 1918-2813 online, Open Access
Article copyright, the authors; Journal compilation copyright, Gastroenterol Res and Elmer Press Inc
Journal website https://www.gastrores.org

Case Report

Volume 15, Number 1, February 2022, pages 33-38

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy

Figures

Figure 1.
Figure 1. Endoscopic view of colonic polyps, prior to sirolimus initiation (a, c). Endoscopic view of colonic polyps, after start of sirolimus (b, d).
Figure 2.
Figure 2. The patient’s 2.4 Mb deletion of 10q23.2q23.31 is shown in red, as represented by the UCSC Genome Browser (http://genome.ucsc.edu/index.html). RefSeq genes in the region are displayed in blue, with BMPR1A and PTEN outlined by red boxes. Red arrows indicate the gene deletions which contribute to our patient’s gastrointestinal polyposis syndrome.
Figure 3.
Figure 3. Improvement in weight gain and lab values over time with treatment. (a) Serum hemoglobin level (g/dL). (b) Serum albumin level (g/dL). (c) Body weight (kg). (d) Timeline of events (age in years). TPN: total parenteral nutrition.

Tables

Table 1. Endoscopic Procedures Before and After Sirolimus (Number of Polyps per Procedure by Location and Overall)
 
Age (months)Type of endoscopyNo. of upper GI polyps removedNo. of deep small bowel polyps removedNo. of lower GI polyps removed
aSirolimus was started. GI: gastrointestinal.
8Flexible sigmoidoscopyRegion not evaluatedRegion not evaluated0 (due to poor bowel preparation)
9ColonoscopyRegion not evaluatedRegion not evaluated20
9ColonoscopyRegion not evaluatedRegion not evaluated7
10ColonoscopyRegion not evaluatedRegion not evaluated12
12Upper endoscopy + colonoscopy15Region not evaluated10
13ColonoscopyRegion not evaluatedRegion not evaluated50
14Upper endoscopy + enteroscopy10 + (undisclosed No. of) duodenal polyps50Region not evaluated
14aStart sirolimus
19Upper endoscopy + colonoscopy9Region not evaluated26
24Upper endoscopy + colonoscopy7Region not evaluated48
33Upper endoscopy + colonoscopy10Region not evaluated84
39ColonoscopyRegion not evaluatedRegion not evaluated103
46Upper endoscopy + colonoscopy2Region not evaluated52
57ColonoscopyRegion not evaluatedRegion not evaluated52
67Upper endoscopy + colonoscopy4Region not evaluated68

 

Table 2. Reduction in Number of Polyps Resected and Frequency of Endoscopic Procedures per Year Following Initiation of Sirolimus
 
Pre-sirolimusPost-sirolimus% reduction
Months of disease course6.355.03
No. of upper polyps resected per year47.627.4184.44%
No. of lower polyps resected per year188.57101.1846.34%
No. of upper endoscopies per year1.91.0942.63%
No. of lower endoscopies per year9.521.5383.93%