Intraoperative endoscopy-assisted tumor debulking in pediatric peutz-jeghers syndrome with early onset massive polyp burden phenotype

• Published in: Journal of pediatric surgery case reports Vol. 87; p. 102503
• Main Authors: Tecos, Maria E., Ballweg, Matthew, Huang-Pacheco, Andrew, Hanna, Angela, Zarroug, Abdalla, Thomas, Patrick
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.12.2022; Elsevier
• Subjects: Endoscopy; Healthcare disparities; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome; Healthcare disparities; Endoscopy
• ISSN: 2213-5766; 2213-5766
• DOI: 10.1016/j.epsc.2022.102503

Peutz-Jeghers Syndrome is an autosomal dominant disorder linked to abnormalities in STK11, and is associated with mucocutaneous pigmentation, sex cord tumors, and gastrointestinal polyps. While it is extremely rare in children under the age of 2, several cases of profound disease have been documented in this population. Here, we detail a case of Peutz-Jeghers Syndrome presenting initially as intussusception, where massive polyp burden nearly occluded the duodenum of a 15-month-old patient and required multimodal operative intervention. Further, we posit that race-based implicit bias may contribute to delays in care and the identification of patients at risk for rare diseases, particularly with atypical presentation, such as the child highlighted in this case. •Varying genetic anomalies may yield more aggressive expression of Peutz-Jeghers Syndrome.•Variance in phenotypic aggression may require alternative screening models.•Social determinants of health and disparities should be considered in screening guidelines.