Late-Onset Metachromatic Leukodystrophy
Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides in the nervous system. Patients with late infantile onset develop progressive difficulties in locomotion at around 14 months of age caused by a combination of peripheral neuropathy and progressive spasticity. Decline in cognitive function, and blindness due to optic atrophy are followed by a vegetative state and death. In juvenile and adult patients the first and predominant presentation is deterioration of mental functions, behavioural problems i and psychiatric disease accompanied by various combinations of movement disorders such as ataxia, dystonia and spasticity.. The MRI shows characteristic bilateral changes of central white matter with diffuse T2 Hyperintensity. CSF protein content is constantly elevated in the late infantile form.
