Diagnosis of Hereditary Pancreatitis Following the Initial Acute Episode With Multiple Pseudocyst Complications

Hereditary pancreatitis (HP) is an unusual form of pancreatitis inherited as an autosomal dominant disorder. Patients typically present with recurrent acute pancreatitis-like symptoms that eventually progress to chronic pancreatitis, resulting in pancreatic exocrine insufficiency or diabetes mellitus, and a high risk of developing pancreatic cancer. As such, early diagnosis is crucial. Herein, we present the case of an 11-year-old boy with no significant medical history, but a family history of type 1 diabetes and pancreatic cancer, who presented with intermittent epigastric pain and nausea. Imaging revealed multiple pancreatic pseudocysts, pancreatic stones, and pancreatic duct dilation, resulting in the diagnosis of acute-on-chronic pancreatitis. Genetic testing confirmed the presence of a mutation in the PRSS1 gene, ultimately resulting in the diagnosis of HP. The patient remained symptom-free for five years during follow-up post-treatment. This case highlights the importance of considering HP in young patients presenting with pseudocysts and other signs of chronic pancreatitis even during the initial acute episode.