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Reminder for the Clinician: Abdominal Manifestations of Type 1 Neurofibromatosis Are Not So Uncommon

Overview
Journal BMJ Case Rep
Specialty General Medicine
Date 2022 Aug 2
PMID 35918081
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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.

References
1.
Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D . Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2009; 14(1):186-94. DOI: 10.1007/s11605-009-0940-5. View

2.
Levy A, Patel N, Dow N, Abbott R, Miettinen M, Sobin L . From the archives of the AFIP: abdominal neoplasms in patients with neurofibromatosis type 1: radiologic-pathologic correlation. Radiographics. 2005; 25(2):455-80. DOI: 10.1148/rg.252045176. View

3.
Gottfried O, Viskochil D, Couldwell W . Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg Focus. 2010; 28(1):E8. DOI: 10.3171/2009.11.FOCUS09221. View

4.
Garrouche N, Ben Abdallah A, Arifa N, Hasni I, Ben Cheikh Y, Ben Farhat W . Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review. Insights Imaging. 2018; 9(5):661-671. PMC: 6206377. DOI: 10.1007/s13244-018-0648-8. View

5.
Seymour-Dempsey K, Andrassy R . Neurofibromatosis: implications for the general surgeon. J Am Coll Surg. 2002; 195(4):553-63. DOI: 10.1016/s1072-7515(02)01252-8. View