Work

High resolution nerve ultrasound in neurofibromatosis type 1: a prospective and descriptive study

Year: 2025

Type: article

Abstract: Objective To explore the value of high resolution nerve ultrasound (HRUS) 3 and nerve conduction studies (NCS) 4 in screening for plexiform neurofibromas (PNs) 5 in neurofibromatosis type 1 (NF1). 6 Methods Adult patients with NF1 were eligible. Patients were divided into two groups: with peripheral nervous system related symptoms (PNS 7 group) and without PNS-related symptoms (non-PNS group). Study visit included neurological examination, NCS and HRUS. Results Sixty patients were enrolled, 37 in the PNS group and 23 in the non-PNS group. HRUS was abnormal in 52 patients (87 %), 34 in the PNS group (92 %) and 18 in the non-PNS group (78 %, p = 0.24). Patients with continuous nerve enlargements (high PN tumor load) were easily distinguished with HRUS. 85 % of patients with normal NCS have nerve enlargements on HRUS. Conclusions HRUS helps to assess PN tumor burden in NF1. NCS did not have additional value. Significance HRUS might be useful as a screening tool for PN in NF1, especially in settings with less MRI availability.

Source: Clinical Neurophysiology

DOI: 10.1016/j.clinph.2025.2110992