Diagnostic algorithm for the differentiation of leukodystrophies in early MS

Leukodystrophies are chronic progressive inherited white matter diseases frequently combined with an inborn error of metabolism. Some leukodystrophies clinically resemble chronic variants of multiple sclerosis (MS), while others exhibit multifocal MRI changes mimicking white matter changes known from MS imaging studies. The risk of misdiagnosing leukodystrophy as being MS is especially high in early disease stages comprising the possibility of initiating an inadequate therapy. Patients with clinical isolated syndromes should carefully be screened for positive family history, atypical clinical presentation or MRI pattern, symmetric involvement of long spinal tracts and peripheral nerves using evoked potentials and nerve conduction velocities and lack of oligoclonal bands in CSF all of which are "red flags" which consecutively may implicate consideration of leukodystrophy. Genetic or biochemical testing is widely available giving rise to a specific diagnosis in most patients.