Neurofibromatosis von Recklinghausen disease
Conditions
Interventions
None listed
Sponsors
Sint Elisabeth Ziekenhuis
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Confirmed neurofibromatosis type 1 or type 2 - Age between 18 years and 80 years
Exclusion criteria
Exclusion criteria: - Physical inability to conduct ultrasound or electrodiagnostics (eg. due to cast, recent operation, reconstructive surgery on extremities)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| High resolution ultrasonography (HRUS) of the peripheral nerves will be performed according to a HRUS protocol. A 7-18MHz transducer will be used during all examinations. Every nerve will be judged on size, echogenicity and vascularity. Images of the peripheral nerves at anatomical landmarks, or abnormalities will be saved in order to be reviewed at a later stage. Sonography data and abnormalities will be used as primary outcome measure. Follow-up 1 year: Sonography will be performed again after 1 year with use of the same protocol. primary outcome is the development of sonographic abnormalities over time. | — |
Secondary
| Measure | Time frame |
|---|---|
| Interview The interview will be focused on symptoms of the patients (e.g. subcutaneous nodules, numbness, pain and loss of strength). The family history specific to neurofibromatosis shall also be asked. Neurologic examination The neurologic examination will be performed based on the protocol. Also, there will be attention for atrophy, dysfunction of cranial nerves and deep tendon reflexes. Electrodiagnostic tests All patients will be examined according to protocol by electrodiagnostic tests. Sensory and motor conduction speed will be measured. The abovementioned data will be collected in order to determine the possible correlation between those findings and findings in sonography. Follow-up: The relationship between development of sonographic abnormalities and development of clinical symptoms will be used as a secundary outcome. | — |
Countries
Netherlands
Outcome results
None listed