Juvenile neurolipidosis of Bernheimer-Seitelberger's type. Histopathological and biochemical findings.

Abstract:

: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 cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly 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 galactosidease 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.

journal_name

Acta Neurol Scand

authors

Brandt S,Clausen J,Diemer NH,Faurholt-Pedersen V,Jensen GE,Lademann A,Melchior JC

doi

10.1111/j.1600-0404.1977.tb01464.x

subject

Has Abstract

pub_date

1977-12-01 00:00:00

pages

587-602

issue

6

eissn

0001-6314

issn

1600-0404

journal_volume

56

pub_type

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