Ultrasound in children with neurofibromatosis type 1: a scoping review

Neurofibromatosis type 1 (NF1) is a multisystem tumor predisposition syndrome in which peripheral nerve sheath tumors (PNTs) represent a key clinical hallmark. Magnetic resonance imaging (MRI) is the reference standard for imaging during follow-up consultations, but in children, it is limited by the need for sedation, high costs, and risk of incidental findings. This scoping review evaluates the feasibility and clinical value of nerve ultrasound (US) in children with NF1. A systematic literature search identified 11 relevant publications, most of which provided low-level evidence. Ultrasound is mainly applied as a first-line, child-friendly modality for assessing superficial lesions and peripheral nerves. Its main advantages over MRI are accessibility, real-time dynamic imaging, and the avoidance of anesthesia, while its limitations include poor visualization of deep structures and a limited ability to distinguish benign from malignant lesions. Nerve ultrasound appears promising as a complementary screening tool alongside MRI, but high-quality studies are required to define its role in pediatric NF1 care.