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.

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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

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article

Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension

Dedong Ma, Leiqi Xu, Yating Wang, Chunwei He
JGH Open
Neurofibromatosis and Schwannoma Cases
article

Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension

Dedong Ma, Leiqi Xu, Yating Wang, Chunwei He
article en

Abstract

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.

JGH OpenVol. 9(4)
Qilu Hospital of Shandong University (CN)
National Natural Science Foundation of China, Natural Science Foundation of Shandong Province
Good health and well-being
Openalex Percentile: Top 87%
Neurofibromatosis and Schwannoma Cases
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