Neurofibromatosis type 1

Background: Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome and is one of the most common genetic diseases. It is therefore a condition encountered by radiologists in clinical routine. Since the variability of the clinical expression is very high and several organ systems are affected, we present a standardized diagnostic approach in this article. Methods: Evaluation of the literature on neurofibromatosis type 1 in the context of radiological examination methods. Results: In addition to the frequently known changes in the central and peripheral nervous system such as optic gliomas and plexiform neurofibromas, lesions from the orthopedic spectrum and vascular changes must also be included in the radiological diagnosis. Conclusions: Due to the diversity of the clinical picture of NF1, it is reasonable to define an examination strategy which takes into account the needs of radiological routine and also reliably detects the most frequent and prognostically significant pathologies accompanying this disease. In this article, the current recommendations for diagnosis of neurofibromatosis-associated tumors and skeletal changes are summarized, and examination protocols and time intervals are suggested.