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Successful treatment of juvenile polyposis of infancy with sirolimus: a case report
Pei Xiao1, Ting Zhang1, Yizhong Wang1
1Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, 355 Luding Road, Shanghai, 200062, China.
Insights
Sirolimus treatment can improve outcomes for Infantile Juvenile Polyposis (JPI) by reducing gastrointestinal bleeding and improving growth. However, it does not replace the need for ongoing endoscopic polypectomy.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Oncology
Background:
- Infantile Juvenile Polyposis (JPI) is a rare, aggressive subtype of Juvenile Polyposis Syndrome (JPS).
- JPI presents in infancy with poor prognosis due to severe gastrointestinal complications.
Observation:
- A 7-month-old girl presented with pallor, progressing to gastrointestinal bleeding and protein-losing enteropathy.
- Endoscopy revealed diffuse polyposis; genetic testing identified a 2.1 Mb deletion in 10q23.2q23.31 involving PTEN and BMPR1A genes.
- Sirolimus therapy initiated at 10 months improved growth and reduced transfusion needs, though regular polypectomy remained necessary.
Findings:
- Sirolimus treatment significantly alleviated JPI complications, including bleeding and protein loss.
- Polyp recurrence was observed within 2 months of sirolimus discontinuation.
- Genetic analysis confirmed a deletion encompassing PTEN and BMPR1A, implicating these genes in JPI pathogenesis.
Implications:
- Sirolimus offers a promising therapeutic option for managing JPI symptoms and improving quality of life.
- Aggressive endoscopic polypectomy remains crucial for JPI management, even with sirolimus therapy.
- This case underscores the importance of genetic testing for JPI diagnosis and potential targeted therapies.
Background:
Infantile Juvenile polyposis of infantile (JPI) is a rare and aggressive form of juvenile polyposis syndrome (JPS) typically diagnosed in the first year of life. It often carries a poor prognosis due to chronic gastrointestinal bleeding, protein-losing enteropathy, malnutrition and immune deficiency.
Case Presentation:
We report a case of a girl initially presented with pallor at 7 months of age, which progressed to gastrointestinal bleeding and protein-losing enteropathy. Endoscopic examination, which included both upper gastrointestinal endoscopy and enteroscopy, showed diffuse polyposis. Histopathology results indicated the presence of juvenile polyps with no dysplasia in all removed polyps. Genetic testing identified a 2.1 Mb deletion on chromosome 10q23.2q23.31 involving the phosphatase and tensin homolog (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A) genes. Treatment with sirolimus initiated at 10 months of age led to a reduction in the need for blood and albumin infusions, improved patient growth, and quality of life. While the frequency of endoscopic evaluations decreased with sirolimus, regular endoscopic polypectomy every 5 months remained necessary. However, discontinuation of sirolimus resulted in polyp recurrence after 2 months due to pneumonia.
Conclusion:
This case highlights sirolimus treatment can alleviate many complications of JPI, it does not eliminate the need for aggressive polypectomy.
