Nerve ultrasound in neurofibromatosis type 1: A follow-up study. Issue 2 (February 2018)

• Record Type: Journal Article
• Authors: Telleman, Johan A.; Stellingwerff, Menno D.; Brekelmans, Geert J.; Visser, Leo H.
• Is Part Of: Clinical neurophysiology. Volume 129:Issue 2(2018:Feb.)
• Page Start: 354
• Page End: 359
• Publication Date: 2018-02
• Subjects: CSA cross-sectional area -- HRUS high resolution ultrasonography -- MPNST malignant peripheral nerve sheath tumor -- NF1 neurofibromatosis type 1 -- PNST peripheral nerve sheath tumor; Neurofibromatosis type 1 -- Ultrasound -- Screening -- Malignant peripheral nerve sheath tumor -- Peripheral nerves; Neurophysiology -- Periodicals; Electroencephalography -- Periodicals; Electromyography -- Periodicals; Neurology -- Periodicals; 612.8
• DOI: 10.1016/j.clinph.2017.11.014
• Languages: English
• ISSNs: 1388-2457

Abstract

Highlights: Nerve high-resolution ultrasonography (HRUS) allows good qualitative assessment of peripheral nerves. Patients with minimal nerve involvement remained so after 1 year of follow-up in our pilot study. Change in plexiform neurofibromas size measured in a standardized HRUS protocol was highly variable. Abstract: Objective: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1). Methods: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Peripheral nerve involvement was graded. Results: Plexiform neurofibromas (PNFs) were found in 7 patients (43.8%) at inclusion and 10 (62.5%) at follow-up. All initially identified PNFs were also found at follow-up; additional PNFs were found by extended longitudinal assessment at follow-up. All 3 patients with minor and 7 patients with severe peripheral nerve involvement had similar involvement at follow-up. Mean nerve size change was −0.2 mm 2 (±1.6) and 0.3 mm 2 (±6.2) in patients with minor and severe involvement. Mean PNF size change was −0.1 mm 2 (±9.9). Conclusions: HRUS allows qualitative assessment of peripheral nerves, which makes it advantageous as initial imaging technique in suspected neuropathy. Patients with minimal nerve involvement remained so, and might therefore require less follow-up for malignant peripheral nerve sheath tumor (MPNSTs) development. Measured change in PNF size was highly variable. Repeating an extensive standardized HRUS protocol during follow-up thus seems less useful to screen for MPNSTs. Significance: HRUS has potential applications as diagnostic and screening tool in NF1.