This case report highlights the clinical presentation and surgical management of a 27-year-old man with recurrent pancreatitis attributed to a homozygous SPINK1 (N34S) mutation. The patient, who experienced multiple hospital admissions, underwent extensive diagnostic evaluations, including imaging and genetic testing, confirming the hereditary nature of his condition. Despite unsuccessful endoscopic interventions, a laparoscopic Puestow procedure was performed, aiming to alleviate symptoms and improve pancreatic drainage. Postoperatively, the patient's recovery was successful, and he was discharged with supplemental pancreatic enzyme therapy. The differential diagnosis included autoimmune pancreatitis and non-hereditary chronic pancreatitis. This case underscores the challenges and considerations in the diagnosis and management of hereditary pancreatitis associated with SPINK1 mutations, emphasizing the role of surgical interventions for selected cases.
Keywords: SPINK1 mutation; chronic pancreatitis; laparoscopic Puestow pancreatectomy.
Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2024.