Adult metachromatic leukodystrophy without deficiency of arylsulphatase.

ABSTRACT

An adult case of metachromatic leukodystrophy, proved by characteristic findings of the brain and superficial sural nerve biopsies, but with absence of deficiency of arylsulphatase A activity in the leucocytes, was reported. The long course of thirty years, the absence of deficiency of arylsulphatase A activity, the discrepancy between the normal conduction velocity of the peripheral nerves and the typical pathological findings of the superficial sural nerve under the light and electron microscopes and the significance of the diffuse hypodense areas and high intensity signals of the cerebral white matter on CT and MRI respectively, were discussed.