Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension
This case underscores that gastrointestinal neurofibromas, though uncommon, should be considered in NF1 patients with persistent abdominal symptoms. A combination of clinical assessment, imaging, endoscopy, and genetic testing is essential for accurate diagnosis. Surgical intervention remains the definitive treatment for symptomatic lesions. The report expands the phenotypic spectrum of NF1 and highlights the importance of multidisciplinary management in rare gastrointestinal manifestations.
Authors
- Dedong Ma (ORCID: https://orcid.org/0000-0002-4269-8254)
- Leiqi Xu (ORCID: https://orcid.org/0000-0001-9737-2289)
- Yating Wang (ORCID: https://orcid.org/0000-0003-4355-2190)
- Chunwei He
Institutions
- Qilu Hospital of Shandong University (CN)
Publication Details
- Journal
- JGH Open
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/jgh3.70138
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Shandong Province