Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon

BMJ Case Rep. 2022 Aug 2;15(8):e250951. doi: 10.1136/bcr-2022-250951.

Abstract

We describe the case of a woman in her 50s with abdominal pelvic masses suspected to be an ovarian lesion with metastases. At laparoscopy, it appeared as a possible abdominal location of neurofibromatosis type 1 (NF-1). A 50 cm of small bowel was resected to remove multiple nodular lesions. On histopathology, small bowel lesions (n=14) were all classified as GISTs. Clinicians should recognise and consider gastrointestinal manifestations of NF-1 in the diagnostic flow chart. Surgical treatment may resolve symptomatic cases and prevent local infiltration or malignant degeneration of abdominal neoplasms occurring in patients with NF-1.

Keywords: Cancer - see Oncology; Gastrointestinal surgery.

Publication types

  • Case Reports

MeSH terms

  • Abdomen / diagnostic imaging
  • Abdomen / pathology
  • Abdominal Neoplasms* / diagnosis
  • Abdominal Neoplasms* / surgery
  • Female
  • Gastrointestinal Stromal Tumors* / surgery
  • Humans
  • Laparoscopy*
  • Neurofibromatosis 1* / complications
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / surgery