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Case Reports: Rare disease
Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon
  1. Giuseppe Portale1,
  2. Roberto Rulli2,
  3. Ylenia C Spolverato1 and
  4. Paolo Mascellino2
  1. 1Azienda ULSS 6 Euganea, Cittadella, Italy
  2. 2Gynecology, Azienda ULSS 6 Euganea, Cittadella, Italy
  1. Correspondence to Dr Giuseppe Portale; portale.giuseppe{at}libero.it

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.

  • Cancer - see Oncology
  • Gastrointestinal surgery

https://doi.org/10.1136/bcr-2022-250951

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    Footnotes

    • Contributors GP: concept, design, draft. RR: patient care. YCS: literature search, draft revision. PM: draft revision.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.