Diagnosis of Von Recklinghausen’s Disease / Neurofibromatosis Type 1
The diagnosis is based on physical examination of clinical features. Two or more clinical features are mandatory to make a diagnosis of Neurofibromatosis (NF). Most patients have a history of the ailment running in the family. Imaging modalities like Magnetic Resonance Imaging (MRI) and CT Scans may be required to bolster the diagnosis. X-ray imaging can be used to monitor bone changes.
Complications like scoliosis may walk in. Since the nerves that carry auditory impulses may be affected tests like Auditory Evoked Potentials may be ordered. An Electro Encephalogram (EEG) records electrical currents in brain and it is ordered in cases where we suspect seizures. Histological testing of tissues under microscope is useful.
Advanced genetic testing can help in the early detection of Von Recklinghausen's disease. Minimally invasive test on the fetus (amniocentesis, where few cells from the foetus are taken for study) can reveal NF. Genetic counseling is effective to an extent since NF is Autosomal Dominant (inherited) in most cases.
