The authors describe a rare case of adult form of metachromatic leucodystrophy in a 35-year female patient with accumulation of epileptic seizures as the first manifestation of the disease. The disease became suspected after examination of the brain by magnetic resonance. The diagnosis was established due to biochemical analysis of urine and blood on the basis of high concentration of sulphatides in urine and a very low level aryl sulphatase in peripheral leukocytes. The diagnosis was confirmed by biopsy of sural nerve, where the demyelinization neuropathy and metachromatic inclusions in myelin were demonstrated.

        Key words: magnetic resonance – metachromatic leucodystrophy