The value of nerve ultrasound in patients with neurofibromatosis type 1

Recruiting

Conditions: eurofibromotosis type 1

Registration Number: NL-OMON20697

Lead Sponsor: Erasmus MC

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

Age =18 years
-Diagnosed with NF1 (see below for diagnostic criteria)
-Treatment at the outpatient clinic of the Erasmus MC Cancer Institute (Rotterdam)

Criteria for diagnosis NF1:
Two or more of the following clinical features are sufficient to establish a diagnosis of neu-rofibromatosis type 1:
• Six or more cafe-au-lait macules (>0,5 cm at largest diameter in a prepubertal child or >1,5 cm in post-pubertal individuals)
• Axillary freckling or freckling in inguinal regions
• Two or more neurofibromas of any type or one or more plexiform neurofibromas
• Two or more Lisch nodules (iris hamartomas)
• A distinctive osseous lesion (sphenoid wing dysplasia, long-bone dysplasia)
• An optic pathway glioma
• A first-degree relative with neurofibromatosis type 1 diagnosed by the above criteria

Exclusion Criteria

-comorbidity associated with (poly)neuropathy (e.g. alcoholism, diabetes mellitus)
-comorbidity mimicking neuropathic complaints (e.g. myelopathy)
-inability to give informed consent or to undergo HRUS

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
- HRUS nerve abnormalities and their characteristics (cross-sectional area, presence or absence of vascularization), measured in 6 nerves and the brachial plexus bilaterally; <br>- presence or absence neurological deficits. This will be determined with neurological examination (strength of 9 muscle groups bilaterally, sensibility in 5 nerve areas bilaterally, 5 reflexes bilaterally, and questions concerning presence or absence of pain), nerve conduction studies (nerve conduction velocity, distal latency, amplitude of action potential, F-wave latency, H-reflex latency) and on indication electromyography (presence of activity in resting condition, amplitude, duration and number of phases of motor unit potentials, pattern at maximal voluntary activation).

Secondary Outcome Measures

Name	Time	Method
- the number of newly detected nerve abnormalities with HRUS after two years of follow-up;<br>- the increase in CSA and/or vascularization of nerve abnormalities detected with HRUS after two years of follow-up.