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JUVENILE NEUROLIPIDOSIS OF BERNHEIMER‐SEITELBERGER's TYPE
Author(s) -
Brandt S.,
Clausen J.,
Diemer N. H.,
FaurholtPedersen V.,
Jensen G. E.,
Lademann A.,
Melchior J. C.
Publication year - 1977
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1977.tb01464.x
Subject(s) - girl , autopsy , abnormality , pediatrics , etiology , cerebellum , juvenile , medicine , psychology , biology , psychiatry , developmental psychology , genetics
Two children are reported, who became diseased at the age of 4 and 2 years, 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 central nervous system, 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 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidase activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.