Small Intestinal Polyp Burden in Pediatric Peutz-Jeghers Syndrome Assessed through Capsule Endoscopy: A Longitudinal Study.

The management of pediatric Peutz-Jeghers Syndrome (PJS) focuses on the prevention of intussusception complicating small intestinal (SI) polyposis. This hinges on the accurate appraisal of the polyp burden to tailor therapeutic interventions. Video Capsule Endoscopy (VCE) is an established tool to study SI polyps in children, but an in-depth characterization of polyp burden in this population is lacking. Methods: We performed a retrospective longitudinal cross-sectional analysis of VCE studies in pediatric PJS patients at our institution (CMKC) from 2010 to 2020. Demographic, clinical, and VCE findings reported by three reviewers in tandem were accrued. Polyp burden variables were modeled as functions of patient and study characteristics using linear mixed models adjusted for clustering. Results: The cohort included 15 patients. The total small bowel polyp count and largest polyp size clustered under 30 polyps and <20 mm in size. Luminal occlusion correlated closely with the estimated polyp size. Polyp distribution favored proximal (77%) over distal (66%) small bowel involvement. The adjusted largest polyp size was greater in males. Double Balloon Enteroscopy was associated with a decreased polyp burden. Conclusions: The polyp burden in pediatric PJS patients favors the proximal third of the small intestine, with relatively small numbers and a polyp size amenable to resection through enteroscopy. Male gender and older age were related to an increased polyp burden.

Gastric cancer in the pediatric population, a multicenter cross-sectional analysis of presentation and coexisting comorbidities.

OBJECTIVES: Solid tumors of the stomach in children are rare, adenocarcinoma being most frequently reported. Risk factors and clinical presentation are poorly understood. We undertook a nationwide database analysis to evaluate pediatric CA stomach presentation, comorbidities, and metastatic pattern. METHODS: The Cerner Health Facts Database® (CHFD) was queried for pediatric age range (1-21) patients, 2010-2017 inclusive. The pediatric gastric cancer cohort was defined by ICD9 and ICD 10 CM diagnoses attributable to primary (non-GIST, non-hematologic) solid tumors of the stomach limited to diagnosis priority < 5 and validated by filtering for supportive diagnoses. Demographic characteristics, comorbidities, before and throughout the medical record were analyzed and compared to the base population. RESULTS: The cohort included 333 patients from a base population of 9.6 million children. The M:F ratio was 1.15:1, mean age at diagnosis was 11.8 years. Stomach cancer was most prevalent in non-Hispanic whites, less in Asians and African Americans. Symptoms included abdominal pain, vomiting, anemia, diarrhea and weight loss. Reflux symptoms, esophagitis, gastritis, including H. pylori and duodenitis were reported in 10.2%. Obesity, obesity-related comorbidities, tobacco exposure and family history of colonic polyps, gastrointestinal and breast cancer were all more prevalent (P < 0.0001) in the cohort. DISCUSSION: We defined patient demographic characteristics, anatomic distribution in a large cohort of children with solid tumors of the stomach. Reported symptoms in our cohort are similar to those observed in adults. Associated comorbidities which may reflect risk factors include obesity, tobacco exposure and family history of intestinal polyps and malignancy.

PTEN Hamartoma Syndrome in a Child Presenting With Malrotation, Panintestinal Polyps, Severe Anemia, and Protein-Losing Enteropathy.

PTEN hamartoma syndrome (PTEN-HS) is a rare syndrome including neurologic, neurodevelopmental, integumentary, endocrine, and gastrointestinal manifestations. Eosinophilic disorders of the gastrointestinal system are diverse group of disorders reported to be more common in PTEN-HS. Our patient had malrotation and obstruction in infancy and subsequently developed macrocephaly and a lipoma. She presented at 4 years of age with both iron deficiency anemia and hypoalbuminemia from protein-losing enteropathy. She went on to endoscopy, colonoscopy, and video capsule endoscopy showing gastric, small intestinal, and colonic polyps but with histology including both a mixed histologic characterization of the polyps as expected with PTEN-HS, along with eosinophilic esophagitis, gastric, duodenal, colonic and polyp eosinophilia. She improved with enteral nutritional support and budesonide. Intestinal malrotation is a previously unrecognized feature of PTEN-HS, in our patient protein-losing enteropathy may have resulted from polyposis or eosinophilic gastrointestinal disorder. Albeit rare, PTEN-HS represents an elusive differential diagnosis with a broad spectrum including gastrointestinal symptomatology. Our case report illustrates the overlap of clinical, endoscopic, and histologic findings that can complicate PTEN-HS.