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Article Abstract
Objective: To explore the value of high resolution nerve ultrasound (HRUS) and nerve conduction studies (NCS) in screening for plexiform neurofibromas (PNs) in neurofibromatosis type 1 (NF1). METHODS: Adult patients with NF1 were eligible. Patients were divided into two groups: with peripheral nervous system related symptoms (PNS 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.
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| http://dx.doi.org/10.1016/j.clinph.2025.2110992 | DOI Listing |
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