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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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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