The authors described a case of the adult form of Krabbe’s leukodystrophy (A-KLS), a rare autosomal recessive disease usually manifested in early childhood and caused by a mutation of the lysozomal enzyme galactocerebrosidase. Krabbe’s leukodystrophy with a late onset in adult age is extremely rare and in the literature so far only few cases were described. The described case was manifested by the slow development of spastic paraparesis of the lower extremities and a disorder of sphincteric and sexual functions from the end of the second decade. Pathognomic for KLD was the finding of disappe- arance of galactocerebrosidase activity in leucocytes and the finding of lipid accumulation in the dermal sweat glands and cytoplasm of Schwann cells of the sural nerve. Magnetic resonance of the brain revealed a non-specific finding of diffuse affection of the central myelin. Abnormalities of somatosensory and motor evoked potentials, corespondong to diffuse affection of the central somato- sensory and motor pathways of the demyelinating type, correlated with this finding. The cerebrospinal fluid did not suggest an autoimmune inflammatory process such as multiple sclerosis.

        Key words: Krabbe’s leukodystrophy, adult form, galactocerebrosidase