Small bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 1: a case report

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.

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Publication Details

Journal
Journal of Surgical Case Reports
Published
2025-12-24
DOI
https://doi.org/10.1093/jscr/rjag030
Primary Topic
Gastrointestinal Tumor Research and Treatment
Type
article
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article

Small bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 1: a case report

Sanjaya Karunaratne, Ali Al-Mashat, Anaan Fareed, Jordan Barrett
Journal of Surgical Case Reports
Gastrointestinal Tumor Research and Treatment
article

Small bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 1: a case report

Sanjaya Karunaratne, Ali Al-Mashat, Anaan Fareed, Jordan Barrett
article en

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.

Journal of Surgical Case ReportsVol. 2026(1)
John Hunter Hospital (AU), University of Newcastle Australia (AU), University of New England (AU)
Good health and well-being
Openalex Percentile: Top 24%
Gastrointestinal Tumor Research and Treatment
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