Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach

Abstract

Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy

“…Most patients have either a SMAD4 or BMPR1A loss of function variant. Case studies have also identified a correlation between chromosome 10q23 deletions including BMPR1A and PTEN with rare onset of a spectrum of phenotypically heterogenous polyposis syndromes [1][2][3][4].…”

“…Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disease associated with hamartomatous growths that can occur throughout the gastrointestinal (GI) tract of affected children [1,2]. Infantile JPS is a more aggressive form that arises during the first year of life, and is thought to be caused by deletion of the PTEN and/or BMPR1A genes [3][4][5]. Without intervention, infantile JPS is often associated with detrimental health sequelae such as protein losing enteropathy (PLE), blood loss, malabsorption, malnutrition, and intussusception.…”

“…Without intervention, infantile JPS is often associated with detrimental health sequelae such as protein losing enteropathy (PLE), blood loss, malabsorption, malnutrition, and intussusception. Extensive medical and surgical interventions are needed to mitigate the sequelae of the disease, including parenteral nutrition (PN) support, frequent transfusions of red blood cells and albumin, endoscopic polypectomies, and bowel resection [ 4 - 6 ].…”

“…Previous case reports have demonstrated some success in treating juvenile polyposis with multi-organ transplantation, colectomy with endoscopic polypectomy, and even sirolimus with subtotal colectomy and sirolimus alone [ 4 - 7 ]. Our case report characterizes the complete clinical course of one patient with this rare disease entity.…”

Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus

“…As reported by Oliveira et al, 9 patients with JPI are offered subtotal colectomy combined with intraoperative endoscopic removal of polyps as a palliative disease control. It is remarkable that despite multiple polyp resection or even subtotal colectomy, we were unable to obtain a decrease in the magnitude of protein loss.…”