JUVENILE NEUROLIPIDOSIS OF BERNHEIMER-SEITELBERGER's TYPE

Abstract

Two children were reported, who became diseased at the age of 4 and 2 yr, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10, and autopsy disclosed a severe gangliolipidosis throughout the CNS, maximal in the brain stem and cerebellum, corresponding with his early and dominantly bulbar symptoms. The girl is still living, although severely disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50% lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and 1 of 2 brothers. The galactosidase activity was within or below the lower normal range limit in leukocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from the girl.