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[Clinical features of GM1 and GM2 gangliosidosis in own observation].
[gm1 gangliosidosis]
Lysosomal
enzyme
defects
leeds
to
intracellular
storage
and
cause
damage
in
many
organs
,
almost
always
affects
central
nervous
system
.
AIM
.
The
aim
of
the
study
was
to
reveal
the
location
and
clinical
characteristics
of
gangliosidosis
in
pediatric
neurology
.
Gangliosidoses
GM
1
and
GM
2
(
Sandhoff
type
)
was
diagnosed
in
4
children
,
aged
1
-
13
years
(
mean
4
,
5
years
)
,
2
girls
and
2
boys
.
GM
2
was
diagnosed
in
3
patients
(
early
childhood
in
2
,
juvenile
in
1
)
and
GM
1
infantile
form
in
1
,
which
was
0
.
024
%
of
hospitalized
children
in
2007
-
2008
.
The
diagnosis
was
made
on
the
basis
of
blood
leukocyte
enzyme
analyse
.
Clinical
course
of
both
type
infantile
gangliosidosis
revealed
to
be
similar
.
Psychomotor
deterioration
and
symptomatic
epilepsy
were
predominant
symptoms
as
well
as
typical
changes
of
eye
fundus
like
cherry
red
spot
.
Juvenile
type
was
less
symptomatic
,
with
tremor
,
dysarthria
and
ataxia
.
Neuroimage
changes
varied
and
were
normal
in
some
,
with
changes
in
corpus
callosum
and
with
distant
changes
in
white
matter
and
subcortical
nuclei
in
others
.
Gangliosidosis
should
be
suspected
in
adolescent
with
tremor
,
ataxia
and
dysarthria
.
Diseases
Validation
Diseases presenting
"ataxia and dysarthria"
symptom
gm1 gangliosidosis
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