Apport de l'imagerie dans la neurofibromatose de type 1

Neurofibromatosis type 1 (NF1) is a multisystem and neuro-cutaneous disease, predisposing to benign and malignant tumors. This is the most common genetic disease with autosomal dominant transmission. It presents 50% of de novo mutation. Localized on 17q11.2, its gene encodes neurofibromin, a protein involved in the control of cell proliferation and the differentiation pathway via inhibition of p21 ras activation. This study of cases reports four observations with CT or MRI documentation. Imaging is involved in all stages of care, from diagnosis to monitoring evolving lesions. These elements highlight the multidisciplinary aspect of this condition and the importance of genetic counseling for patient management.