TRPV6 gene mutation associated with giant pancreatic pseudocyst with mediastinal extension in a pediatric patient: Lessons learned

Abstract

Pancreatic pseudocyst is a common complication secondary to acute or chronic pancreatitis. The extension of a pseudocyst into the mediastinum is extremely rare, with notably few reported cases in the pediatric age group found in the literature. This report presents a giant pancreatic pseudocyst with mediastinal extension that developed secondary to TRPV6 gene mutation in a 12-year-old male patient with no previously known disease and normal laboratory values.

Keywords: TRPV6 gene; chronic pancreatitis; mediastinal extension; pediatric; pseudocyst.