Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2

Muscle Nerve. 2018 Feb;57(2):312-316. doi: 10.1002/mus.25734. Epub 2017 Jul 18.

Abstract

Introduction: Neurofibromatosis type 2 (NF2) is mainly associated with central nervous system (CNS) tumors. Peripheral nerve involvement is described in symptomatic patients, but evidence of subclinical peripheral nerve involvement is scarce.

Methods: We conducted a cross-sectional pilot study in 2 asymptomatic and 3 minimally symptomatic patients with NF2 to detect subclinical peripheral nerve involvement. Patients underwent clinical examination, nerve conduction studies (NCS), and high-resolution ultrasonography (HRUS).

Results: A total of 30 schwannomas were found, divided over 20 nerve segments (33.9% of all investigated nerve segments). All patients had at least 1 schwannoma. Schwannomas were identified with HRUS in 37% of clinically unaffected nerve segments and 50% of nerve segments with normal NCS findings.

Discussion: HRUS shows frequent subclinical peripheral nerve involvement in NF2. Clinicians should consider peripheral nerve involvement as a cause of weakness and sensory loss in the extremities in patients with this disease. Muscle Nerve 57: 312-316, 2018.

Keywords: asymptomatic; neurofibromatosis type 2; neuropathy; peripheral nerve sheath tumors; sonography; subclinical.

MeSH terms

  • Adult
  • Aged
  • Anatomy, Cross-Sectional
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neural Conduction
  • Neurilemmoma / pathology
  • Neurofibromatosis 2 / diagnostic imaging*
  • Peripheral Nerves / diagnostic imaging*
  • Peripheral Nervous System Neoplasms / pathology
  • Pilot Projects
  • Ultrasonography