A Rare Case of Early-Onset Periampullary Adenocarcinoma in a Neurofibromatosis Type 1 Patient

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder primarily associated with neurocutaneous manifestations. Gastrointestinal involvement, though less recognized, can include both benign and malignant neoplasms. We describe a rare case of a 26-year-old woman with NF1 presenting with progressive obstructive jaundice. Imaging revealed a periampullary mass, and histopathology confirmed a moderately differentiated adenocarcinoma. Ultimately, the patient underwent surgical intervention. This case highlights the diagnostic challenges of rare gastrointestinal malignancies in NF1 patients, particularly in resource-limited settings. Clinicians should maintain a high index of suspicion for malignant GI lesions in NF1 patients presenting with unexplained jaundice. Early multidisciplinary evaluation is essential to improve outcomes.  J Dhaka Med Coll. 2025; 34(1) : 55-58