Garrouche Nada, Ben Abdallah Amel, Arifa Nadia, Hasni Ibtissem, Ben Cheikh Yasser, Ben Farhat Waad, Ben Amor Sana, Jemni Hela
Radiology Department, Sahloul University Hospital, Sousse, Tunisia.
General Surgery Department, Sahloul University Hospital, Sousse, Tunisia.
Insights Imaging. 2018 Oct;9(5):661-671. doi: 10.1007/s13244-018-0648-8. Epub 2018 Sep 4.
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. TEACHING POINTS: • Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.
1型神经纤维瘤病（NF1）是最常见的遗传性疾病之一。在常规临床实践中，很少会想到NF-1的胃肠道表现，因此可能未得到充分认识。其表现形式多样，从局部微观增殖性病变到肉眼可见的肿块性神经纤维瘤、神经内分泌肿瘤和胃肠道间质瘤（GIST）。本研究的目的是探讨NF1患者腹部病变的影像学评估和特征。教学要点：•1型神经纤维瘤病（NF-1）是最常见的单基因疾病之一。•每个器官系统都可能受累，腹腔内表现被低估。•NF1腹部表现包括五类肿瘤。•包括神经纤维瘤在内的神经源性肿瘤是最常见的类型。•基于影像学表现对NF-1腹部表现进行早期诊断，对于避免与肿瘤肿块相关的严重器质性并发症的适当治疗是必要的。
