Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms

A 24-year-old man presented with a spastic and ataxic condition resembling chronic-progressive multiple sclerosis. Radiological examination revealed symmetrical diffuse paraventricular demyelination. Electrophysiological findings suggested additional involvement of the brain stem and the peripheral nervous system. The diagnosis of adult-onset metachromatic leucodystrophy was confirmed by biochemical and ultrastructural examination. In contrast to almost all adult cases reported so far, psychiatric symptoms were not present.