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

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 (PNS7 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.