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

Giuseppe PortaleRoberto RulliYlenia C SpolveratoPaolo Mascellino
Published in: BMJ case reports (2022)
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.
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