Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

Abstract

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.

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