Globoid cell leukodystrophy (Krabbe’s disease) is a rare demyelinating disorder affecting both the central and peripheral myelin. The nature of the disease is deficient activity of lysosomal enzyme galactocerebrosidase. Based on the age at the first clinical symptoms, there are 4 types of the disease recognized: infantile form and 3 forms with later onset (late infantile, juvenile, adult). The report aimed at the survey of Czech patients diagnosed during 26 years. A set involves 14 patients. 11 of them had infantile form, 2 patients late infant form, and 1 patients adult elemenform. By 6 months of age the patients with the infantile form manifested the following symptoms: retardation or regression of development (11/11), high irritability (11/11), problems with food intake (8/11), increased muscle tone (8/11) with simultaneous decrease (6/11) as well as increase (1/11) of tendon reflexes, spastic pyramidal signs (7/11), convulsions (6/11), fever of unclear etiology (3/11), attacks of opisthotonus (6/11), screaming without any evident cause (5/11), vomiting (2/11). The initial symptom in the patients with the late infantile form was the disturbance of vision (1/2) or of walking (1/2). Spastic paraparesis was a clinical manifestation in a patient with the adult form. The diagnosis of globoid cell leukodystrophy was established by demonstrating deficient activity of galactocerebrosidase in peripheral leukocytes, in older case by the brain biopsy or autopsy. The disease was thought of in 10/14 cases. The diagnosis of globoid cell leukodystrophy should be considered in a neurological disease with symmetrical affection of the white matter (the best documented by MRI) if any signs of visceral, clinically manifestable organ involvement are missing. The exception is the affection of the peripheral myelin evident either clinically or by means of electrophysiological examination.

        Key words: globoid cell leukodystrophy, Krabbe’s disease, galactocerebrosidase, demyelination