Abstract Neurofibromatosis type 1 is an autosomal dominant disorder associated with an increased risk of tumours, including gastrointestinal stromal tumours. These are usually asymptomatic and discovered incidentally. Small bowel obstruction due to gastrointestinal stromal tumour in neurofibromatosis 1 is rare, especially in young adults. We report a 24-year-old man with neurofibromatosis type 1 who presented with right upper quadrant pain and biochemical features of acute cholecystitis. During laparoscopic cholecystectomy, unexpected small bowel dilatation prompted conversion to laparotomy, revealing obstruction from a large multifocal jejunal gastrointestinal stromal tumour. This case highlights the rarity of such a presentation and the importance of surgical adaptability intraoperatively.
Fareed et al. (2025) studied this question.